Table 2.
Hugo_Symbol | chromosome | Start_Position | End_Position | Strand | Variant_Classification | Tumor_Seq_Allele1 | Tumor_Seq_Allele2 | Tumor_Samle_Barcode | protein_change |
---|---|---|---|---|---|---|---|---|---|
ARID1A | 1 | 27087346 | 27087346 | + | Splice_Site | G | T | OCCC_22 | |
OBSCN | 1 | 228528833 | 228528833 | + | Missense_Mutation | G | A | OCCC_22 | p.R5912H |
MSH3 | 5 | 79950724 | 79950724 | + | Missense_Mutation | G | C | OCCC_22 | p.A60P |
MUC17 | 7 | 100683482 | 100683482 | + | Missense_Mutation | C | T | OCCC_22 | p.P2929S |
AHNAK | 11 | 62296059 | 62296059 | + | Missense_Mutation | C | A | OCCC_22 | p.V1944L |
AHNAK2 | 14 | 105413318 | 105413318 | + | Missense_Mutation | C | T | OCCC_22 | p.G2824R |
AHNAK2 | 14 | 105413471 | 105413471 | + | Missense_Mutation | T | C | OCCC_22 | p.K2773E |
TCHH | 1 | 152083777 | 152083777 | + | Missense_Mutation | T | G | OCCC_37 | p.Q639P |
FLG | 1 | 152277704 | 152277704 | + | Missense_Mutation | C | G | OCCC_37 | p.D3220H |
FLG | 1 | 152281635 | 152281635 | + | Missense_Mutation | C | A | OCCC_37 | p.R1909S |
OBSCN | 1 | 228462377 | 228462377 | + | Missense_Mutation | G | A | OCCC_37 | p.V1930M |
OBSCN | 1 | 228468087 | 228468087 | + | Missense_Mutation | C | T | OCCC_37 | p.A2624V |
DSPP | 4 | 88537412 | 88537412 | + | Missense_Mutation | G | A | OCCC_37 | p.D1200N |
PTPRN2 | 7 | 157959931 | 157959931 | + | Missense_Mutation | G | A | OCCC_37 | p.A201V |
PLEC | 8 | 144998243 | 144998243 | + | Missense_Mutation | G | A | OCCC_37 | p.R2089C |
PLEC | 8 | 145024703 | 145024703 | + | Missense_Mutation | G | A | OCCC_37 | p.R58W |
AHNAK | 11 | 62293968 | 62293968 | + | Missense_Mutation | C | T | OCCC_37 | p.V2641M |
MUC19 | 12 | 40873781 | 40873781 | + | Missense_Mutation | T | C | OCCC_37 | p.S1776P |
MUC19 | 12 | 40873989 | 40873989 | + | Missense_Mutation | C | T | OCCC_37 | p.S1845L |
AHNAK2 | 14 | 105407327 | 105407327 | + | Missense_Mutation | G | A | OCCC_37 | p.P4821S |
AHNAK2 | 14 | 105407525 | 105407525 | + | Missense_Mutation | G | A | OCCC_37 | p.P4755S |
AHNAK2 | 14 | 105413516 | 105413516 | + | Missense_Mutation | C | G | OCCC_37 | p.V2758L |
AHNAK2 | 14 | 105413517 | 105413517 | + | Missense_Mutation | G | C | OCCC_37 | p.N2757K |
AHNAK2 | 14 | 105413791 | 105413791 | + | Missense_Mutation | G | A | OCCC_37 | p.S2666F |
AHNAK2 | 14 | 105419549 | 105419549 | + | Missense_Mutation | G | T | OCCC_37 | p.P747T |
AHNAK2 | 14 | 105419610 | 105419610 | + | Missense_Mutation | C | G | OCCC_37 | p.Q726H |
CASKIN1 | 16 | 2231127 | 2231127 | + | Missense_Mutation | C | T | OCCC_37 | p.G748S |
ERBB2 | 17 | 37863287 | 37863287 | + | Missense_Mutation | G | A | OCCC_37 | p.E40K |
SPTBN4 | 19 | 41062992 | 41062992 | + | Missense_Mutation | G | A | OCCC_37 | p.A1785T |
PPP2R1A | 19 | 52715982 | 52715982 | + | Missense_Mutation | C | T | OCCC_37 | p.R183W |
LAMA5 | 20 | 60909579 | 60909579 | + | Splice_Site | C | A | OCCC_37 | p.E861* |
HRNR | 1 | 152191230 | 152191230 | + | Missense_Mutation | G | T | OCCC_50 | p.Q959K |
OBSCN | 1 | 228474615 | 228474615 | + | Missense_Mutation | G | A | OCCC_50 | p.R3140Q |
PIK3CA | 3 | 178952085 | 178952085 | + | Missense_Mutation | A | G | OCCC_50 | p.H1047R |
DSPP | 4 | 88536737 | 88536737 | + | Missense_Mutation | G | A | OCCC_50 | p.D975N |
PLEC | 8 | 145009181 | 145009181 | + | Missense_Mutation | T | A | OCCC_50 | p.N412Y |
EVPL | 17 | 74010545 | 74010545 | + | Missense_Mutation | C | A | OCCC_50 | p.G779C |
HELZ2 | 20 | 62194375 | 62194375 | + | Missense_Mutation | G | A | OCCC_50 | p.R1934W |
ARID1A | 1 | 27105565 | 27105565 | + | Nonsense_Mutation | G | T | OCCC_04 | p.E1726* |
ARID1A | 1 | 27106159 | 27106159 | + | Missense_Mutation | G | A | OCCC_04 | p.E1924K |
DST | 6 | 56357781 | 56357781 | + | Missense_Mutation | C | T | OCCC_04 | p.R6514Q |
AHNAK2 | 14 | 105413284 | 105413284 | + | Missense_Mutation | G | A | OCCC_04 | p.S2835L |
SPTA1 | 1 | 158592867 | 158592867 | + | Missense_Mutation | C | T | OCCC_47 | p.R2009H |
SPTA1 | 1 | 158617396 | 158617396 | + | Missense_Mutation | G | A | OCCC_47 | p.R1277C |
OBSCN | 1 | 228462332 | 228462332 | + | Missense_Mutation | G | A | OCCC_47 | p.E1915K |
OBSCN | 1 | 228464316 | 228464316 | + | Missense_Mutation | C | G | OCCC_47 | p.P2129R |
OBSCN | 1 | 228468069 | 228468069 | + | Missense_Mutation | G | A | OCCC_47 | p.S2618N |
OBSCN | 1 | 228475581 | 228475581 | + | Missense_Mutation | G | A | OCCC_47 | p.R3244Q |
OBSCN | 1 | 228503679 | 228503679 | + | Missense_Mutation | A | G | OCCC_47 | p.T4382A |
OBSCN | 1 | 228506756 | 228506756 | + | Missense_Mutation | C | T | OCCC_47 | p.S4768L |
OBSCN | 1 | 228509733 | 228509733 | + | Missense_Mutation | C | T | OCCC_47 | p.A5064V |
OBSCN | 1 | 228555619 | 228555619 | + | Missense_Mutation | A | T | OCCC_47 | p.Y6554F |
OBSCN | 1 | 228559933 | 228559933 | + | Missense_Mutation | A | T | OCCC_47 | p.T7152S |
OBSCN | 1 | 228562312 | 228562312 | + | Missense_Mutation | C | T | OCCC_47 | p.R7508C |
OBSCN | 1 | 228564758 | 228564758 | + | Missense_Mutation | G | A | OCCC_47 | p.R7682H |
OBSCN | 1 | 228566387 | 228566387 | + | Missense_Mutation | G | A | OCCC_47 | p.R7933Q |
PIK3CA | 3 | 178916623 | 178916623 | + | Nonsense_Mutation | C | T | OCCC_47 | p.R4* |
MUC4 | 3 | 195511070 | 195511070 | + | Missense_Mutation | C | G | OCCC_47 | p.D2461H |
MUC4 | 3 | 195511208 | 195511208 | + | Missense_Mutation | T | G | OCCC_47 | p.T2415P |
MUC4 | 3 | 195513530 | 195513530 | + | Missense_Mutation | A | C | OCCC_47 | p.L1641V |
SHROOM3 | 4 | 77662408 | 77662408 | + | Missense_Mutation | G | A | OCCC_47 | p.E1028K |
DST | 6 | 56357740 | 56357740 | + | Missense_Mutation | C | T | OCCC_47 | p.E6528K |
MUC17 | 7 | 100683993 | 100683993 | + | Missense_Mutation | C | A | OCCC_47 | p.T3099N |
AHNAK | 11 | 62299325 | 62299325 | + | Missense_Mutation | T | G | OCCC_47 | p.K855T |
SPTBN2 | 11 | 66457571 | 66457571 | + | Missense_Mutation | G | A | OCCC_47 | p.R1917W |
SPTBN2 | 11 | 66478182 | 66478182 | + | Missense_Mutation | G | A | OCCC_47 | p.S315L |
SPTBN2 | 11 | 66478411 | 66478411 | + | Missense_Mutation | C | T | OCCC_47 | p.V288M |
KRAS | 12 | 25398284 | 25398284 | + | Missense_Mutation | C | T | OCCC_47 | p.G12D |
MUC19 | 12 | 40838017 | 40838017 | + | Missense_Mutation | G | A | OCCC_47 | p.A867T |
SPTB | 14 | 65260543 | 65260543 | + | Missense_Mutation | C | A | OCCC_47 | p.S613I |
AHNAK2 | 14 | 105413318 | 105413318 | + | Missense_Mutation | C | T | OCCC_47 | p.G2824R |
AHNAK2 | 14 | 105415607 | 105415607 | + | Missense_Mutation | C | T | OCCC_47 | p.V2061M |
AHNAK2 | 14 | 105417358 | 105417358 | + | Missense_Mutation | T | C | OCCC_47 | p.E1477G |
CASKIN1 | 16 | 2231918 | 2231918 | + | Missense_Mutation | C | T | OCCC_47 | p.V548M |
XPO6 | 16 | 28167402 | 28167402 | + | Missense_Mutation | C | T | OCCC_47 | p.D364N |
SPTBN4 | 19 | 41060134 | 41060134 | + | Missense_Mutation | A | C | OCCC_47 | p.S1586R |
SPTBN4 | 19 | 41062987 | 41062987 | + | Missense_Mutation | G | A | OCCC_47 | p.R1783Q |
VASP | 19 | 46021266 | 46021266 | + | Missense_Mutation | G | A | OCCC_47 | p.R86H |
PPP2R1A | 19 | 52716323 | 52716323 | + | Missense_Mutation | C | A | OCCC_47 | p.S256Y |
LAMA5 | 20 | 60889985 | 60889985 | + | Missense_Mutation | G | A | OCCC_47 | p.T2689M |
LAMA5 | 20 | 60899525 | 60899525 | + | Missense_Mutation | C | T | OCCC_47 | p.R1872H |
HELZ2 | 20 | 62190630 | 62190630 | + | Missense_Mutation | C | T | OCCC_47 | p.R2640H |
MAPK1 | 22 | 22123579 | 22123579 | + | Missense_Mutation | T | C | OCCC_47 | p.M333V |
MAPK1 | 22 | 22153396 | 22153396 | + | Missense_Mutation | G | A | OCCC_47 | p.R172C |
ARID1A | 1 | 27057788 | 27057788 | + | Missense_Mutation | C | T | OCCC_25 | p.S499L |
ARID1A | 1 | 27106648 | 27106648 | + | Missense_Mutation | G | A | OCCC_25 | p.G2087R |
RPTN | 1 | 152128065 | 152128065 | + | Missense_Mutation | C | T | OCCC_25 | p.G504R |
HRNR | 1 | 152191050 | 152191050 | + | Missense_Mutation | C | T | OCCC_25 | p.G1019R |
FLG | 1 | 152281145 | 152281145 | + | Missense_Mutation | T | G | OCCC_25 | p.K2073Q |
FLG | 1 | 152282178 | 152282178 | + | Missense_Mutation | C | G | OCCC_25 | p.E1728D |
FLG | 1 | 152283430 | 152283430 | + | Missense_Mutation | A | G | OCCC_25 | p.F1311S |
FLG2 | 1 | 152324114 | 152324114 | + | Missense_Mutation | C | T | OCCC_25 | p.A2050T |
OBSCN | 1 | 228464337 | 228464337 | + | Missense_Mutation | C | T | OCCC_25 | p.S2136L |
LRP1B | 2 | 141625794 | 141625794 | + | Missense_Mutation | C | T | OCCC_25 | p.R1403H |
MUC4 | 3 | 195508586 | 195508586 | + | Missense_Mutation | A | C | OCCC_25 | p.S3289A |
DSP | 6 | 7584072 | 7584072 | + | Missense_Mutation | G | A | OCCC_25 | p.E2193K |
DST | 6 | 56480547 | 56480547 | + | Missense_Mutation | C | T | OCCC_25 | p.R2573Q |
MUC17 | 7 | 100679633 | 100679633 | + | Missense_Mutation | C | T | OCCC_25 | p.P1646S |
MUC17 | 7 | 100682351 | 100682351 | + | Missense_Mutation | A | G | OCCC_25 | p.I2552V |
AHNAK | 11 | 62295870 | 62295870 | + | Missense_Mutation | T | C | OCCC_25 | p.M2007V |
AHNAK | 11 | 62296335 | 62296335 | + | Missense_Mutation | C | T | OCCC_25 | p.A1852T |
SPTB | 14 | 65251050 | 65251050 | + | Missense_Mutation | C | T | OCCC_25 | p.R1306Q |
SPTB | 14 | 65260495 | 65260495 | + | Missense_Mutation | C | T | OCCC_25 | p.R629Q |
SPTB | 14 | 65263370 | 65263370 | + | Missense_Mutation | G | A | OCCC_25 | p.R416W |
AHNAK2 | 14 | 105405284 | 105405284 | + | Missense_Mutation | G | A | OCCC_25 | p.R5502W |
AHNAK2 | 14 | 105408638 | 105408638 | + | Missense_Mutation | G | C | OCCC_25 | p.L4384V |
AHNAK2 | 14 | 105410804 | 105410804 | + | Missense_Mutation | C | G | OCCC_25 | p.D3662H |
CASKIN1 | 16 | 2231447 | 2231447 | + | Missense_Mutation | G | A | OCCC_25 | p.P641L |
CASKIN1 | 16 | 2239089 | 2239089 | + | Missense_Mutation | C | T | OCCC_25 | p.D186N |
EVPL | 17 | 74018494 | 74018494 | + | Splice_Site | C | T | OCCC_25 | p.P202P |
PPP2R1A | 19 | 52715982 | 52715982 | + | Missense_Mutation | C | T | OCCC_25 | p.R183W |
ARID1A | 1 | 27099947 | 27099947 | + | Nonsense_Mutation | C | T | OCCC_01 | p.R1276* |
HRNR | 1 | 152191019 | 152191019 | + | Missense_Mutation | G | T | OCCC_01 | p.S1029Y |
HRNR | 1 | 152191565 | 152191565 | + | Missense_Mutation | G | A | OCCC_01 | p.T847M |
SPTA1 | 1 | 158581062 | 158581062 | + | Missense_Mutation | C | A | OCCC_01 | p.G2418C |
OBSCN | 1 | 228520965 | 228520965 | + | Missense_Mutation | T | A | OCCC_01 | p.L5266Q |
MUC4 | 3 | 195515435 | 195515435 | + | Missense_Mutation | C | T | OCCC_01 | p.A1006T |
SHROOM3 | 4 | 77631404 | 77631404 | + | Missense_Mutation | C | T | OCCC_01 | p.A140V |
SHROOM3 | 4 | 77676219 | 77676219 | + | Missense_Mutation | C | A | OCCC_01 | p.P1528Q |
SHROOM3 | 4 | 77700047 | 77700047 | + | Missense_Mutation | G | A | OCCC_01 | p.R1903Q |
ANK3 | 10 | 61965552 | 61965552 | + | Missense_Mutation | C | T | OCCC_01 | p.E431K |
AHNAK | 11 | 62292816 | 62292816 | + | Missense_Mutation | C | T | OCCC_01 | p.V3025M |
AHNAK2 | 14 | 105407965 | 105407965 | + | Missense_Mutation | G | A | OCCC_01 | p.A4608V |
CASKIN1 | 16 | 2237236 | 2237236 | + | Missense_Mutation | T | A | OCCC_01 | p.T256S |
EVPL | 17 | 74005072 | 74005072 | + | Missense_Mutation | A | C | OCCC_01 | p.L1405R |
EVPL | 17 | 74005073 | 74005073 | + | Missense_Mutation | G | T | OCCC_01 | p.L1405I |
EYA2 | 20 | 45801465 | 45801465 | + | Missense_Mutation | G | A | OCCC_01 | p.R383H |
ARID1A | 1 | 27056349 | 27056349 | + | Nonsense_Mutation | C | T | OCCC_32 | p.Q449* |
PIK3CA | 3 | 178936091 | 178936091 | + | Missense_Mutation | G | A | OCCC_32 | p.E545K |
AHNAK2 | 14 | 105415160 | 105415160 | + | Missense_Mutation | C | G | OCCC_32 | p.V2210L |
KRT10 | 17 | 38978372 | 38978372 | + | Missense_Mutation | G | A | OCCC_32 | p.R156C |
AKT2 | 19 | 40745962 | 40745962 | + | Missense_Mutation | G | A | OCCC_32 | p.P210L |
ARID1A | 1 | 27106558 | 27106558 | + | Missense_Mutation | C | T | OCCC_34 | p.R2057W |
MUC17 | 7 | 100680354 | 100680354 | + | Missense_Mutation | C | G | OCCC_34 | p.T1886S |
TCHH | 1 | 152081230 | 152081230 | + | Missense_Mutation | A | C | OCCC_35 | p.L1488R |
FLG | 1 | 152280731 | 152280731 | + | Missense_Mutation | G | C | OCCC_35 | p.H2211D |
PIK3CA | 3 | 178936082 | 178936082 | + | Missense_Mutation | G | A | OCCC_35 | p.E542K |
MUC4 | 3 | 195489015 | 195489015 | + | Missense_Mutation | G | A | OCCC_35 | p.L583F |
DST | 6 | 56417211 | 56417211 | + | Missense_Mutation | A | T | OCCC_35 | p.V5249D |
SPTB | 14 | 65289745 | 65289745 | + | Missense_Mutation | C | A | OCCC_35 | p.W23L |
DST | 6 | 56505405 | 56505405 | + | Splice_Site | T | - | OCCC_35 | |
HRNR | 1 | 152188862 | 152188862 | + | Missense_Mutation | G | A | OCCC_61 | p.S1748L |
FLG | 1 | 152276886 | 152276886 | + | Missense_Mutation | G | C | OCCC_61 | p.D3492E |
FLG | 1 | 152279527 | 152279527 | + | Missense_Mutation | T | C | OCCC_61 | p.D2612G |
FLG | 1 | 152280002 | 152280002 | + | Missense_Mutation | T | C | OCCC_61 | p.T2454A |
FLG2 | 1 | 152325817 | 152325817 | + | Missense_Mutation | T | C | OCCC_61 | p.H1482R |
FLG2 | 1 | 152325818 | 152325818 | + | Missense_Mutation | G | C | OCCC_61 | p.H1482D |
FLG2 | 1 | 152325820 | 152325820 | + | Missense_Mutation | T | G | OCCC_61 | p.Y1481S |
MUC4 | 3 | 195510896 | 195510896 | + | Missense_Mutation | G | A | OCCC_61 | p.P2519S |
MUC17 | 7 | 100680017 | 100680017 | + | Missense_Mutation | A | G | OCCC_61 | p.I1774V |
MUC17 | 7 | 100682427 | 100682427 | + | Missense_Mutation | G | C | OCCC_61 | p.R2577T |
MUC17 | 7 | 100682967 | 100682967 | + | Missense_Mutation | T | C | OCCC_61 | p.L2757P |
PLEC | 8 | 145003304 | 145003304 | + | Missense_Mutation | T | C | OCCC_61 | p.Q1213R |
AHNAK2 | 14 | 105407327 | 105407327 | + | Missense_Mutation | G | A | OCCC_61 | p.P4821S |
AHNAK2 | 14 | 105413791 | 105413791 | + | Missense_Mutation | G | A | OCCC_61 | p.S2666F |
AHNAK2 | 14 | 105414923 | 105414923 | + | Missense_Mutation | T | C | OCCC_61 | p.K2289E |
PPP2R1A | 19 | 52722956 | 52722956 | + | Missense_Mutation | C | T | OCCC_61 | p.R381W |
LAMA5 | 20 | 60909671 | 60909671 | + | Missense_Mutation | C | T | OCCC_61 | p.R830Q |
DST | 6 | 56515830 | 56515831 | + | Splice_Site | TC | - | OCCC_61 | p.G232fs |
FLG | 1 | 152276490 | 152276490 | + | Missense_Mutation | C | G | OCCC_03 | p.E3624D |
FLG | 1 | 152282852 | 152282852 | + | Missense_Mutation | A | G | OCCC_03 | p.Y1504H |
FLG | 1 | 152283256 | 152283256 | + | Missense_Mutation | C | G | OCCC_03 | p.R1369T |
ZNF717 | 3 | 75788028 | 75788028 | + | Missense_Mutation | G | A | OCCC_03 | p.S199L |
MUC17 | 7 | 100678724 | 100678724 | + | Missense_Mutation | C | A | OCCC_03 | p.P1343T |
MUC17 | 7 | 100682922 | 100682922 | + | Missense_Mutation | G | C | OCCC_03 | p.R2742P |
KRAS | 12 | 25398284 | 25398284 | + | Missense_Mutation | C | G | OCCC_03 | p.G12A |
MUC19 | 12 | 40820396 | 40820396 | + | Missense_Mutation | G | A | OCCC_03 | p.R125Q |
AHNAK2 | 14 | 105410804 | 105410804 | + | Missense_Mutation | C | G | OCCC_03 | p.D3662H |
ARID1A | 1 | 27106915 | 27106915 | + | Nonsense_Mutation | C | T | OCCC_30 | p.Q2176* |
PIK3CA | 3 | 178952077 | 178952077 | + | Missense_Mutation | T | G | OCCC_30 | p.N1044K |
FLG | 1 | 152277137 | 152277137 | + | Missense_Mutation | G | C | OCCC_69 | p.R3409G |
FLG | 1 | 152281635 | 152281635 | + | Missense_Mutation | C | A | OCCC_69 | p.R1909S |
CELSR3 | 3 | 48689423 | 48689423 | + | Missense_Mutation | C | A | OCCC_69 | p.R1937L |
MUC4 | 3 | 195513010 | 195513010 | + | Missense_Mutation | G | A | OCCC_69 | p.P1814L |
MUC17 | 7 | 100679169 | 100679169 | + | Missense_Mutation | C | A | OCCC_69 | p.A1491E |
MUC17 | 7 | 100679388 | 100679388 | + | Missense_Mutation | A | C | OCCC_69 | p.Q1564P |
MUC17 | 7 | 100682261 | 100682261 | + | Missense_Mutation | G | C | OCCC_69 | p.V2522L |
PLEC | 8 | 144995266 | 144995266 | + | Missense_Mutation | G | T | OCCC_69 | p.A3045D |
PLEC | 8 | 144998339 | 144998339 | + | Missense_Mutation | G | A | OCCC_69 | p.R2057W |
AHNAK | 11 | 62295071 | 62295071 | + | Missense_Mutation | T | A | OCCC_69 | p.D2273V |
SPTBN4 | 19 | 40993723 | 40993723 | + | Missense_Mutation | C | T | OCCC_69 | p.R97W |
UNC13B | 9 | 35397632 | 35397632 | + | Splice_Site | - | CCATCGGGAAGGTGCTGATGATGTCTGCATACTGCATCAGCACCTT | OCCC_69 | p.T1144fs |
ARID1A | 1 | 27106559 | 27106559 | + | Missense_Mutation | G | A | OCCC_63 | p.R2057Q |
OBSCN | 1 | 228456294 | 228456294 | + | Missense_Mutation | C | T | OCCC_63 | p.A1642V |
SHROOM3 | 4 | 77662468 | 77662468 | + | Missense_Mutation | C | T | OCCC_63 | p.R1048C |
DST | 6 | 56485366 | 56485366 | + | Nonsense_Mutation | G | A | OCCC_63 | p.R1156* |
AHNAK2 | 14 | 105412913 | 105412913 | + | Missense_Mutation | G | A | OCCC_63 | p.R2959W |
SPTBN4 | 19 | 41019388 | 41019388 | + | Missense_Mutation | G | A | OCCC_63 | p.G898S |
MAPK1 | 22 | 22153395 | 22153395 | + | Missense_Mutation | C | T | OCCC_63 | p.R172H |
KRT5 | 12 | 52913524 | 52913524 | + | Splice_Site | A | - | OCCC_63 | |
HELZ2 | 20 | 62197545 | 62197545 | + | Missense_Mutation | G | T | OCCC_67 | p.T877N |
MAPK8IP2 | 22 | 51042980 | 51042980 | + | Missense_Mutation | C | T | OCCC_67 | p.P152L |
OBSCN | 1 | 228412271 | 228412271 | + | Missense_Mutation | C | T | OCCC_41 | p.T922M |
SHROOM3 | 4 | 77678005 | 77678005 | + | Nonsense_Mutation | C | T | OCCC_41 | p.R1705* |
DST | 6 | 56417706 | 56417706 | + | Missense_Mutation | T | C | OCCC_41 | p.Q5084R |
PLEC | 8 | 144992259 | 144992259 | + | Missense_Mutation | C | A | OCCC_41 | p.Q4047H |
PLEC | 8 | 145003701 | 145003701 | + | Missense_Mutation | C | T | OCCC_41 | p.E1125K |
AHNAK | 11 | 62285364 | 62285364 | + | Missense_Mutation | C | T | OCCC_41 | p.V5509M |
KRT5 | 12 | 52911474 | 52911474 | + | Missense_Mutation | C | T | OCCC_41 | p.R331H |
AHNAK2 | 14 | 105412598 | 105412598 | + | Missense_Mutation | A | C | OCCC_41 | p.L3064V |
AHNAK2 | 14 | 105412633 | 105412633 | + | Missense_Mutation | G | A | OCCC_41 | p.P3052L |
MAGEE1 | X | 75650211 | 75650211 | + | Missense_Mutation | G | A | OCCC_41 | p.V630M |
ARID1A | 1 | 27100961 | 27100961 | + | Nonsense_Mutation | C | T | OCCC_17 | p.Q1415* |
FLG | 1 | 152280568 | 152280568 | + | Missense_Mutation | C | A | OCCC_17 | p.R2265I |
CTNNB1 | 3 | 41275648 | 41275648 | + | Nonsense_Mutation | C | T | OCCC_17 | p.R515* |
ZNF717 | 3 | 75788088 | 75788088 | + | Missense_Mutation | C | T | OCCC_17 | p.R179K |
ZNF717 | 3 | 75790800 | 75790800 | + | Missense_Mutation | C | T | OCCC_17 | p.D49N |
PIK3CA | 3 | 178936095 | 178936095 | + | Missense_Mutation | A | T | OCCC_17 | p.Q546L |
MUC4 | 3 | 195508955 | 195508955 | + | Missense_Mutation | C | T | OCCC_17 | p.A3166T |
SHROOM3 | 4 | 77675528 | 77675528 | + | Missense_Mutation | C | T | OCCC_17 | p.R1298C |
SHROOM3 | 4 | 77677730 | 77677730 | + | Missense_Mutation | C | T | OCCC_17 | p.T1613I |
KRT5 | 12 | 52912805 | 52912805 | + | Missense_Mutation | C | T | OCCC_17 | p.S232N |
AHNAK2 | 14 | 105408107 | 105408107 | + | Missense_Mutation | G | T | OCCC_17 | p.L4561I |
AHNAK2 | 14 | 105412871 | 105412871 | + | Missense_Mutation | C | T | OCCC_17 | p.A2973T |
ARID1A | 1 | 27023818 | 27023818 | + | Nonsense_Mutation | C | G | OCCC_18 | p.Y308* |
HRNR | 1 | 152186877 | 152186877 | + | Missense_Mutation | C | G | OCCC_18 | p.G2410R |
FLG | 1 | 152281113 | 152281113 | + | Missense_Mutation | G | C | OCCC_18 | p.S2083R |
FLG | 1 | 152283589 | 152283589 | + | Nonsense_Mutation | G | T | OCCC_18 | p.S1258* |
FLG | 1 | 152283590 | 152283590 | + | Missense_Mutation | A | C | OCCC_18 | p.S1258A |
FLG | 1 | 152284318 | 152284318 | + | Missense_Mutation | C | T | OCCC_18 | p.G1015D |
FLG | 1 | 152284319 | 152284319 | + | Missense_Mutation | C | G | OCCC_18 | p.G1015R |
FLG2 | 1 | 152328326 | 152328326 | + | Missense_Mutation | C | T | OCCC_18 | p.G646R |
ZNF717 | 3 | 75788260 | 75788260 | + | Missense_Mutation | C | A | OCCC_18 | p.G122W |
MUC17 | 7 | 100677793 | 100677793 | + | Missense_Mutation | G | A | OCCC_18 | p.M1032I |
MUC17 | 7 | 100680228 | 100680228 | + | Missense_Mutation | C | A | OCCC_18 | p.A1844E |
MUC17 | 7 | 100682045 | 100682045 | + | Missense_Mutation | C | A | OCCC_18 | p.P2450T |
MUC17 | 7 | 100682552 | 100682552 | + | Missense_Mutation | A | G | OCCC_18 | p.K2619E |
MUC17 | 7 | 100682556 | 100682556 | + | Missense_Mutation | A | G | OCCC_18 | p.D2620G |
UNC13B | 9 | 35398227 | 35398227 | + | Missense_Mutation | A | T | OCCC_18 | p.N1176I |
AHNAK | 11 | 62298074 | 62298074 | + | Missense_Mutation | C | G | OCCC_18 | p.R1272P |
AHNAK2 | 14 | 105413471 | 105413471 | + | Missense_Mutation | T | C | OCCC_18 | p.K2773E |
SPTB | 14 | 65258436 | 65258452 | + | Splice_Site | CCTGGTGTTCAGATGGT | - | OCCC_18 | p.DHLNTR930fs |
FLG | 1 | 152276045 | 152276045 | + | Missense_Mutation | A | G | OCCC_48 | p.Y3773H |
FLG | 1 | 152284263 | 152284263 | + | Missense_Mutation | G | C | OCCC_48 | p.H1033Q |
FLG | 1 | 152284673 | 152284673 | + | Missense_Mutation | G | A | OCCC_48 | p.R897C |
FLG | 1 | 152284791 | 152284791 | + | Missense_Mutation | G | T | OCCC_48 | p.H857Q |
FLG2 | 1 | 152329942 | 152329942 | + | Missense_Mutation | C | T | OCCC_48 | p.R107Q |
OBSCN | 1 | 228476577 | 228476577 | + | Missense_Mutation | C | G | OCCC_48 | p.L3443V |
ZNF717 | 3 | 75786921 | 75786921 | + | Missense_Mutation | G | A | OCCC_48 | p.P568L |
MUC4 | 3 | 195477841 | 195477841 | + | Missense_Mutation | C | T | OCCC_48 | p.V1028I |
MUC4 | 3 | 195513605 | 195513605 | + | Missense_Mutation | G | A | OCCC_48 | p.P1616S |
MUC17 | 7 | 100681211 | 100681211 | + | Missense_Mutation | G | C | OCCC_48 | p.V2172L |
MUC17 | 7 | 100681533 | 100681533 | + | Missense_Mutation | C | A | OCCC_48 | p.T2279N |
MUC17 | 7 | 100681985 | 100681985 | + | Missense_Mutation | A | T | OCCC_48 | p.T2430S |
PLEC | 8 | 144991243 | 144991243 | + | Missense_Mutation | G | A | OCCC_48 | p.S4386L |
PLEC | 8 | 144998614 | 144998614 | + | Missense_Mutation | C | T | OCCC_48 | p.R1965Q |
ANK3 | 10 | 61829483 | 61829483 | + | Missense_Mutation | C | T | OCCC_48 | p.R3719H |
ANK3 | 10 | 61831651 | 61831651 | + | Missense_Mutation | C | G | OCCC_48 | p.Q2996H |
AHNAK | 11 | 62295656 | 62295656 | + | Missense_Mutation | A | T | OCCC_48 | p.V2078D |
MUC19 | 12 | 40878695 | 40878695 | + | Missense_Mutation | A | G | OCCC_48 | p.I3414V |
MUC19 | 12 | 40878697 | 40878697 | + | Missense_Mutation | A | G | OCCC_48 | p.I3414M |
MUC19 | 12 | 40924074 | 40924074 | + | Splice_Site | G | T | OCCC_48 | |
KRT5 | 12 | 52908794 | 52908794 | + | Missense_Mutation | C | T | OCCC_48 | p.G569R |
AHNAK2 | 14 | 105409546 | 105409546 | + | Missense_Mutation | T | G | OCCC_48 | p.K4081T |
AHNAK2 | 14 | 105413266 | 105413266 | + | Missense_Mutation | A | G | OCCC_48 | p.L2841P |
AHNAK2 | 14 | 105416046 | 105416046 | + | Missense_Mutation | G | C | OCCC_48 | p.F1914L |
AHNAK2 | 14 | 105419446 | 105419446 | + | Missense_Mutation | T | G | OCCC_48 | p.K781T |
CASKIN1 | 16 | 2236759 | 2236759 | + | Missense_Mutation | G | A | OCCC_48 | p.R333W |
CDC27 | 17 | 45219364 | 45219364 | + | Missense_Mutation | A | T | OCCC_48 | p.M469K |
ARID1A | 1 | 27106142 | 27106142 | + | Missense_Mutation | G | A | OCCC_66 | p.R1918Q |
HRNR | 1 | 152191206 | 152191206 | + | Missense_Mutation | A | G | OCCC_66 | p.S967P |
OBSCN | 1 | 228432236 | 228432236 | + | Missense_Mutation | G | A | OCCC_66 | p.G1149R |
PIK3CA | 3 | 178952085 | 178952085 | + | Missense_Mutation | A | G | OCCC_66 | p.H1047R |
MUC4 | 3 | 195506411 | 195506411 | + | Missense_Mutation | C | T | OCCC_66 | p.A4014T |
MUC4 | 3 | 195508937 | 195508937 | + | Missense_Mutation | T | A | OCCC_66 | p.T3172S |
SHROOM3 | 4 | 77661446 | 77661446 | + | Missense_Mutation | A | G | OCCC_66 | p.K707R |
MSH3 | 5 | 80088643 | 80088643 | + | Missense_Mutation | C | A | OCCC_66 | p.P879T |
MSH3 | 5 | 80088644 | 80088644 | + | Missense_Mutation | C | A | OCCC_66 | p.P879Q |
ANK3 | 10 | 61829936 | 61829936 | + | Missense_Mutation | C | T | OCCC_66 | p.G3568E |
KRAS | 12 | 25398284 | 25398284 | + | Missense_Mutation | C | A | OCCC_66 | p.G12V |
AHNAK2 | 14 | 105413284 | 105413284 | + | Missense_Mutation | G | A | OCCC_66 | p.S2835L |
CASKIN1 | 16 | 2230814 | 2230814 | + | Missense_Mutation | G | A | OCCC_66 | p.A852V |
CDC27 | 17 | 45235598 | 45235598 | + | Missense_Mutation | G | T | OCCC_66 | p.S150Y |
OBSCN | 1 | 228522798 | 228522798 | + | Missense_Mutation | G | T | OCCC_19 | p.V5402L |
LRP1B | 2 | 141625780 | 141625780 | + | Missense_Mutation | A | T | OCCC_19 | p.S1408T |
LRP1B | 2 | 141625782 | 141625782 | + | Missense_Mutation | G | T | OCCC_19 | p.A1407D |
MUC4 | 3 | 195477909 | 195477909 | + | Missense_Mutation | C | T | OCCC_19 | p.R1005Q |
MUC17 | 7 | 100683723 | 100683723 | + | Missense_Mutation | G | C | OCCC_19 | p.R3009T |
AHNAK | 11 | 62295549 | 62295549 | + | Missense_Mutation | C | T | OCCC_19 | p.A2114T |
EVPL | 17 | 74003794 | 74003794 | + | Missense_Mutation | T | C | OCCC_19 | p.Y1831C |
VASP | 19 | 46021012 | 46021012 | + | Missense_Mutation | T | A | OCCC_19 | p.F33I |
VASP | 19 | 46021013 | 46021013 | + | Missense_Mutation | T | G | OCCC_19 | p.F33C |
LAMA5 | 20 | 60905992 | 60905992 | + | Missense_Mutation | C | A | OCCC_19 | p.C1220F |
FLG | 1 | 152280430 | 152280430 | + | Missense_Mutation | G | C | OCCC_51 | p.S2311C |
FLG2 | 1 | 152324093 | 152324093 | + | Missense_Mutation | G | C | OCCC_51 | p.Q2057E |
FLG2 | 1 | 152324146 | 152324146 | + | Missense_Mutation | T | G | OCCC_51 | p.H2039P |
FLG2 | 1 | 152328192 | 152328192 | + | Missense_Mutation | A | C | OCCC_51 | p.H690Q |
SPTA1 | 1 | 158604407 | 158604407 | + | Missense_Mutation | C | G | OCCC_51 | p.E1831Q |
OBSCN | 1 | 228463635 | 228463635 | + | Missense_Mutation | G | A | OCCC_51 | p.R2043H |
OBSCN | 1 | 228475464 | 228475464 | + | Missense_Mutation | G | A | OCCC_51 | p.R3205H |
CELSR3 | 3 | 48689456 | 48689456 | + | Missense_Mutation | G | C | OCCC_51 | p.S1926C |
MUC4 | 3 | 195512117 | 195512117 | + | Missense_Mutation | C | G | OCCC_51 | p.A2112P |
DSP | 6 | 7585846 | 7585846 | + | Missense_Mutation | C | T | OCCC_51 | p.S2784F |
PLEC | 8 | 144999110 | 144999110 | + | Missense_Mutation | C | G | OCCC_51 | p.E1800Q |
AHNAK | 11 | 62284251 | 62284251 | + | Missense_Mutation | C | T | OCCC_51 | p.E5880K |
MUC19 | 12 | 40876710 | 40876710 | + | Missense_Mutation | C | T | OCCC_51 | p.P2752L |
AHNAK2 | 14 | 105412801 | 105412801 | + | Missense_Mutation | G | C | OCCC_51 | p.S2996C |
CASKIN1 | 16 | 2230236 | 2230236 | + | Missense_Mutation | C | G | OCCC_51 | p.A1045P |
KRT10 | 17 | 38975232 | 38975232 | + | Missense_Mutation | T | C | OCCC_51 | p.S519G |
EVPL | 17 | 74010545 | 74010545 | + | Missense_Mutation | C | A | OCCC_51 | p.G779C |
ARID3A | 19 | 932572 | 932572 | + | Nonsense_Mutation | C | T | OCCC_51 | p.R175* |
LAMA5 | 20 | 60889911 | 60889911 | + | Missense_Mutation | C | T | OCCC_51 | p.A2714T |
FLG2 | 1 | 152324440 | 152324440 | + | Missense_Mutation | A | G | OCCC_33 | p.I1941T |
AHNAK2 | 14 | 105412100 | 105412100 | + | Missense_Mutation | G | C | OCCC_33 | p.Q3230E |
LAMA5 | 20 | 60909672 | 60909672 | + | Missense_Mutation | G | A | OCCC_33 | p.R830W |
SPTBN2 | 11 | 66460644 | 66460666 | + | Splice_Site | TCCTGGCCCTCACCTTGGCCTTC | - | OCCC_33 | p.EKAKV1615fs |
PIK3CA | 3 | 178952085 | 178952085 | + | Missense_Mutation | A | G | OCCC_06 | p.H1047R |
DMRTB1 | 1 | 53925412 | 53925412 | + | Missense_Mutation | C | T | OCCC_59 | p.R96C |
TCHH | 1 | 152084066 | 152084066 | + | Missense_Mutation | C | T | OCCC_59 | p.E543K |
HRNR | 1 | 152189067 | 152189067 | + | Missense_Mutation | C | T | OCCC_59 | p.G1680R |
FLG | 1 | 152282178 | 152282178 | + | Missense_Mutation | C | G | OCCC_59 | p.E1728D |
CELSR3 | 3 | 48685349 | 48685349 | + | Nonsense_Mutation | G | A | OCCC_59 | p.R2352* |
MUC4 | 3 | 195515449 | 195515449 | + | Missense_Mutation | A | G | OCCC_59 | p.V1001A |
DSP | 6 | 7579931 | 7579931 | + | Missense_Mutation | G | A | OCCC_59 | p.E1170K |
MUC17 | 7 | 100683644 | 100683644 | + | Missense_Mutation | G | A | OCCC_59 | p.G2983S |
PLEC | 8 | 144995227 | 144995227 | + | Missense_Mutation | G | A | OCCC_59 | p.T3058M |
SPTBN2 | 11 | 66461627 | 66461627 | + | Missense_Mutation | C | T | OCCC_59 | p.D1496N |
KRT5 | 12 | 52912805 | 52912805 | + | Missense_Mutation | C | T | OCCC_59 | p.S232N |
AHNAK2 | 14 | 105408172 | 105408172 | + | Missense_Mutation | A | C | OCCC_59 | p.V4539G |
AHNAK2 | 14 | 105412720 | 105412720 | + | Missense_Mutation | G | T | OCCC_59 | p.T3023N |
AHNAK2 | 14 | 105419313 | 105419313 | + | Missense_Mutation | C | G | OCCC_59 | p.E825D |
XPO6 | 16 | 28128712 | 28128712 | + | Missense_Mutation | C | T | OCCC_59 | p.R644Q |
EVPL | 17 | 74005742 | 74005742 | + | Missense_Mutation | C | T | OCCC_59 | p.V1182M |
DST | 6 | 56457157 | 56457158 | + | Splice_Site | CT | - | OCCC_59 | |
MUC19 | 12 | 40858220 | 40858228 | + | Splice_Site | CAGGAAGTA | - | OCCC_59 | p.QEV1199del |
HRNR | 1 | 152186844 | 152186844 | + | Missense_Mutation | G | A | OCCC_44 | p.R2421C |
HRNR | 1 | 152187048 | 152187048 | + | Missense_Mutation | C | T | OCCC_44 | p.G2353S |
HRNR | 1 | 152187194 | 152187194 | + | Missense_Mutation | C | A | OCCC_44 | p.R2304L |
HRNR | 1 | 152192259 | 152192259 | + | Missense_Mutation | T | C | OCCC_44 | p.T616A |
OBSCN | 1 | 228432198 | 228432198 | + | Missense_Mutation | C | T | OCCC_44 | p.A1136V |
ZNF717 | 3 | 75786036 | 75786036 | + | Missense_Mutation | A | G | OCCC_44 | p.F863S |
ZNF717 | 3 | 75788217 | 75788217 | + | Missense_Mutation | G | A | OCCC_44 | p.T136I |
MSH3 | 5 | 79950724 | 79950724 | + | Missense_Mutation | G | C | OCCC_44 | p.A60P |
MUC17 | 7 | 100679782 | 100679782 | + | Missense_Mutation | A | G | OCCC_44 | p.I1695M |
MUC17 | 7 | 100679783 | 100679783 | + | Missense_Mutation | A | C | OCCC_44 | p.T1696P |
MUC17 | 7 | 100683099 | 100683099 | + | Missense_Mutation | C | G | OCCC_44 | p.P2801R |
AHNAK2 | 14 | 105413588 | 105413588 | + | Missense_Mutation | G | C | OCCC_44 | p.L2734V |
EVPL | 17 | 74019680 | 74019680 | + | Missense_Mutation | C | T | OCCC_44 | p.R85H |
ARID1A | 1 | 27099122 | 27099122 | + | Splice_Site | - | G | OCCC_44 | p.S1180fs |
HRNR | 1 | 152185695 | 152185695 | + | Missense_Mutation | C | A | OCCC_08 | p.G2804C |
HRNR | 1 | 152187879 | 152187879 | + | Missense_Mutation | T | C | OCCC_08 | p.R2076G |
OBSCN | 1 | 228400030 | 228400030 | + | Nonsense_Mutation | C | A | OCCC_08 | p.Y182* |
OBSCN | 1 | 228505767 | 228505767 | + | Missense_Mutation | G | T | OCCC_08 | p.G4675V |
MUC17 | 7 | 100680579 | 100680579 | + | Missense_Mutation | C | A | OCCC_08 | p.S1961Y |
HELZ2 | 20 | 62195277 | 62195277 | + | Missense_Mutation | G | A | OCCC_08 | p.P1633L |
LRP1B | 2 | 141267574 | 141267574 | + | Missense_Mutation | C | A | OCCC_15 | p.C2774F |
EYA2 | 20 | 45801437 | 45801437 | + | Missense_Mutation | G | A | OCCC_15 | p.V374M |
OBSCN | 1 | 228463548 | 228463548 | + | Missense_Mutation | C | A | OCCC_49 | p.P2014Q |
FLG | 1 | 152286344 | 152286344 | + | Missense_Mutation | C | G | OCCC_39 | p.D340H |
ANK3 | 10 | 61832367 | 61832367 | + | Missense_Mutation | C | T | OCCC_39 | p.V2758I |
SPTBN2 | 11 | 66481105 | 66481105 | + | Missense_Mutation | C | T | OCCC_39 | p.E257K |
MUC19 | 12 | 40876494 | 40876494 | + | Missense_Mutation | T | C | OCCC_39 | p.I2680T |
EYA2 | 20 | 45812004 | 45812004 | + | Missense_Mutation | G | A | OCCC_39 | p.G501S |
MAPK1 | 22 | 22160188 | 22160188 | + | Missense_Mutation | C | T | OCCC_39 | p.R148H |
PIK3CA | 3 | 178952007 | 178952007 | + | Missense_Mutation | A | G | OCCC_62 | p.Y1021C |
UNC13B | 9 | 35376074 | 35376074 | + | Missense_Mutation | C | T | OCCC_62 | p.S473L |
KRT1 | 12 | 53071200 | 53071200 | + | Missense_Mutation | C | T | OCCC_62 | p.R343H |
AHNAK2 | 14 | 105418508 | 105418508 | + | Missense_Mutation | C | A | OCCC_62 | p.V1094L |
LAMA5 | 20 | 60908258 | 60908258 | + | Missense_Mutation | G | A | OCCC_62 | p.S1057L |
PIK3CA | 3 | 178936067 | 178936067 | + | Nonsense_Mutation | C | T | OCCC_31 | p.R537* |
MUC4 | 3 | 195515006 | 195515006 | + | Missense_Mutation | G | C | OCCC_31 | p.H1149D |
MUC17 | 7 | 100683472 | 100683472 | + | Missense_Mutation | A | T | OCCC_31 | p.E2925D |
MUC17 | 7 | 100683474 | 100683474 | + | Missense_Mutation | T | G | OCCC_31 | p.V2926G |
UNC13B | 9 | 35382464 | 35382464 | + | Missense_Mutation | A | C | OCCC_31 | p.N840T |
AHNAK | 11 | 62289981 | 62289981 | + | Missense_Mutation | C | T | OCCC_31 | p.V3970I |
OBSCN | 1 | 228566387 | 228566387 | + | Missense_Mutation | G | A | OCCC_11 | p.R7933Q |
CTNNB1 | 3 | 41266097 | 41266097 | + | Missense_Mutation | G | T | OCCC_11 | p.D32Y |
PLEC | 8 | 144997792 | 144997792 | + | Missense_Mutation | C | T | OCCC_11 | p.R2239H |
AHNAK2 | 14 | 105412466 | 105412466 | + | Missense_Mutation | C | T | OCCC_11 | p.G3108S |
CDC27 | 17 | 45249432 | 45249432 | + | Splice_Site | T | A | OCCC_11 | |
CDC27 | 17 | 45249431 | 45249431 | + | Splice_Site | C | - | OCCC_11 | |
EVPL | 17 | 74019372 | 74019372 | + | Splice_Site | - | CTGTTTCTGCTCCAGCACGCGTGCCCAGAAACAGGTCAGGAA | OCCC_11 | |
ARID1A | 1 | 27100070 | 27100070 | + | Splice_Site | G | A | OCCC_07 | |
FLG2 | 1 | 152331330 | 152331330 | + | Missense_Mutation | C | T | OCCC_07 | p.V11I |
PIK3CA | 3 | 178952085 | 178952085 | + | Missense_Mutation | A | G | OCCC_07 | p.H1047R |
PPP2R1A | 19 | 52715970 | 52715970 | + | Missense_Mutation | C | A | OCCC_07 | p.P179T |
PLEC | 8 | 145004373 | 145004373 | + | Missense_Mutation | C | T | OCCC_20 | p.V988M |
PLEC | 8 | 145005812 | 145005812 | + | Missense_Mutation | G | A | OCCC_20 | p.R869W |
KRT10 | 17 | 38975261 | 38975261 | + | Missense_Mutation | G | A | OCCC_20 | p.S509F |
LAMA5 | 20 | 60910229 | 60910295 | + | Splice_Site | CCAGTGTGCCCCCAAATCCCCCACACCTTGGTCCTCAGACTCACCGGCTGGCACTCAGCAACTCCAC | - | OCCC_20 | p.GGVAECQP785fs |
PIK3CA | 3 | 178919287 | 178919287 | + | Missense_Mutation | G | T | OCCC_14 | p.D258Y |
MUC4 | 3 | 195489009 | 195489009 | + | Missense_Mutation | C | G | OCCC_14 | p.A585P |
MUC19 | 12 | 40878078 | 40878078 | + | Missense_Mutation | C | T | OCCC_14 | p.T3208I |
AHNAK2 | 14 | 105420865 | 105420865 | + | Missense_Mutation | C | T | OCCC_14 | p.R308H |
TCHH | 1 | 152083846 | 152083846 | + | Missense_Mutation | C | A | OCCC_43 | p.R616L |
FLG | 1 | 152284450 | 152284450 | + | Missense_Mutation | C | T | OCCC_43 | p.R971H |
OBSCN | 1 | 228399923 | 228399923 | + | Missense_Mutation | G | A | OCCC_43 | p.G147R |
CELSR3 | 3 | 48696988 | 48696988 | + | Missense_Mutation | C | T | OCCC_43 | p.R1027Q |
DST | 6 | 56346870 | 56346870 | + | Missense_Mutation | C | T | OCCC_43 | p.R6850Q |
PLEC | 8 | 144999694 | 144999694 | + | Missense_Mutation | C | T | OCCC_43 | p.R1605H |
PLEC | 8 | 145001886 | 145001886 | + | Missense_Mutation | G | A | OCCC_43 | p.R1287W |
UNC13B | 9 | 35403941 | 35403941 | + | Missense_Mutation | C | T | OCCC_43 | p.R1563W |
ANK3 | 10 | 61834631 | 61834631 | + | Missense_Mutation | T | A | OCCC_43 | p.Q2003L |
SPTB | 14 | 65240080 | 65240080 | + | Missense_Mutation | G | A | OCCC_43 | p.A1679V |
AHNAK2 | 14 | 105418067 | 105418067 | + | Missense_Mutation | C | T | OCCC_43 | p.G1241S |
EYA2 | 20 | 45725802 | 45725802 | + | Missense_Mutation | G | A | OCCC_43 | p.G295R |
LAMA5 | 20 | 60885861 | 60885861 | + | Missense_Mutation | G | A | OCCC_43 | p.R3436W |
MAPK8IP2 | 22 | 51042592 | 51042592 | + | Missense_Mutation | C | T | OCCC_43 | p.R23C |
MAGEE1 | X | 75648374 | 75648374 | + | Missense_Mutation | G | T | OCCC_43 | p.K17N |
RPTN | 1 | 152128196 | 152128196 | + | Missense_Mutation | C | T | OCCC_46 | p.S460N |
DSPP | 4 | 88536980 | 88536980 | + | Missense_Mutation | A | G | OCCC_46 | p.N1056D |
MUC17 | 7 | 100683179 | 100683179 | + | Missense_Mutation | G | A | OCCC_46 | p.G2828S |
PLEC | 8 | 144991180 | 144991180 | + | Nonsense_Mutation | C | T | OCCC_46 | p.W4407* |
AHNAK2 | 14 | 105413066 | 105413066 | + | Missense_Mutation | T | C | OCCC_46 | p.K2908E |
AHNAK2 | 14 | 105418918 | 105418918 | + | Missense_Mutation | C | A | OCCC_46 | p.G957V |
ARID1A | 1 | 27101099 | 27101099 | + | Nonsense_Mutation | C | T | OCCC_21 | p.R1461* |
FLG | 1 | 152282672 | 152282672 | + | Missense_Mutation | G | C | OCCC_21 | p.P1564A |
LRP1B | 2 | 141459361 | 141459361 | + | Missense_Mutation | G | A | OCCC_21 | p.T2119M |
CELSR3 | 3 | 48681704 | 48681704 | + | Missense_Mutation | C | T | OCCC_21 | p.A2704T |
CELSR3 | 3 | 48697838 | 48697838 | + | Missense_Mutation | C | T | OCCC_21 | p.V744M |
PIK3CA | 3 | 178936083 | 178936083 | + | Missense_Mutation | A | G | OCCC_21 | p.E542G |
PIK3CA | 3 | 178952013 | 178952013 | + | Missense_Mutation | G | A | OCCC_21 | p.R1023Q |
MUC17 | 7 | 100685327 | 100685327 | + | Missense_Mutation | T | A | OCCC_21 | p.S3544T |
MUC19 | 12 | 40873956 | 40873956 | + | Missense_Mutation | G | T | OCCC_21 | p.G1834V |
MAPK8IP2 | 22 | 51044262 | 51044262 | + | Missense_Mutation | G | A | OCCC_21 | p.R409Q |
HRNR | 1 | 152187606 | 152187606 | + | Missense_Mutation | G | A | OCCC_53 | p.R2167C |
LOR | 1 | 153233513 | 153233513 | + | Missense_Mutation | G | A | OCCC_53 | p.G30S |
LRP1B | 2 | 141660736 | 141660736 | + | Splice_Site | T | A | OCCC_53 | |
PIK3CA | 3 | 178936082 | 178936082 | + | Missense_Mutation | G | C | OCCC_53 | p.E542Q |
PLEC | 8 | 144990707 | 144990707 | + | Missense_Mutation | C | T | OCCC_53 | p.V4565M |
ANK3 | 10 | 61956385 | 61956385 | + | Splice_Site | T | A | OCCC_53 | |
AHNAK2 | 14 | 105411020 | 105411020 | + | Missense_Mutation | C | T | OCCC_53 | p.A3590T |
AHNAK2 | 14 | 105418481 | 105418481 | + | Missense_Mutation | C | T | OCCC_53 | p.V1103I |
AKT2 | 19 | 40741948 | 40741948 | + | Missense_Mutation | C | T | OCCC_53 | p.E342K |
MAPK1 | 22 | 22153396 | 22153396 | + | Missense_Mutation | G | A | OCCC_53 | p.R172C |
OBSCN | 1 | 228494303 | 228494342 | + | Splice_Site | GGCTCCCAGGCCACCAGTGCCACCCTCACTGTCACAGGTG | - | OCCC_53 | p.GSQATSATLTVTG3964fs |
CASKIN1 | 16 | 2239567 | 2239567 | + | Splice_Site | - | G | OCCC_53 | |
PIK3CA | 3 | 178936082 | 178936082 | + | Missense_Mutation | G | A | OCCC_26 | p.E542K |
UNC13B | 9 | 35403873 | 35403873 | + | Missense_Mutation | G | A | OCCC_26 | p.G1540D |
CDK12 | 17 | 37646866 | 37646866 | + | Missense_Mutation | G | A | OCCC_26 | p.R663H |
ARID1A | 1 | 27058029 | 27058029 | + | Nonsense_Mutation | T | G | OCCC_27 | p.Y579* |
ARID1A | 1 | 27106621 | 27106621 | + | Nonsense_Mutation | G | T | OCCC_27 | p.E2078* |
FLG | 1 | 152285252 | 152285252 | + | Missense_Mutation | C | G | OCCC_27 | p.A704P |
OBSCN | 1 | 228564757 | 228564757 | + | Missense_Mutation | C | T | OCCC_27 | p.R7682C |
CTNNB1 | 3 | 41266097 | 41266097 | + | Missense_Mutation | G | T | OCCC_27 | p.D32Y |
CTNNB1 | 3 | 41275239 | 41275239 | + | Missense_Mutation | C | T | OCCC_27 | p.R469C |
PIK3CA | 3 | 178951955 | 178951955 | + | Missense_Mutation | A | G | OCCC_27 | p.M1004V |
PLEC | 8 | 145007424 | 145007424 | + | Missense_Mutation | G | T | OCCC_27 | p.F590L |
KRT1 | 12 | 53070208 | 53070208 | + | Missense_Mutation | G | C | OCCC_27 | p.N442K |
AHNAK2 | 14 | 105412500 | 105412500 | + | Missense_Mutation | G | C | OCCC_27 | p.D3096E |
AHNAK2 | 14 | 105413588 | 105413588 | + | Missense_Mutation | G | C | OCCC_27 | p.L2734V |
AHNAK2 | 14 | 105416455 | 105416455 | + | Missense_Mutation | A | G | OCCC_27 | p.M1778T |
PPP2R1A | 19 | 52715983 | 52715983 | + | Missense_Mutation | G | A | OCCC_27 | p.R183Q |
MAPK8IP2 | 22 | 51041925 | 51041925 | + | Nonsense_Mutation | C | T | OCCC_27 | p.Q149* |
ARID1A | 1 | 27023904 | 27023904 | + | Nonsense_Mutation | G | A | OCCC_05 | p.W337* |
FLG2 | 1 | 152328546 | 152328546 | + | Missense_Mutation | C | A | OCCC_05 | p.L572F |
FLG2 | 1 | 152328547 | 152328547 | + | Missense_Mutation | A | G | OCCC_05 | p.L572S |
PIK3CA | 3 | 178928226 | 178928226 | + | Missense_Mutation | C | T | OCCC_05 | p.P471L |
UNC13B | 9 | 35403903 | 35403903 | + | Missense_Mutation | G | A | OCCC_05 | p.R1550Q |
ANK3 | 10 | 61829919 | 61829919 | + | Missense_Mutation | G | A | OCCC_05 | p.R3574C |
AHNAK | 11 | 62288810 | 62288810 | + | Missense_Mutation | C | T | OCCC_05 | p.S4360N |
HRNR | 1 | 152190900 | 152190900 | + | Missense_Mutation | T | A | OCCC_29 | p.S1069C |
HRNR | 1 | 152191862 | 152191862 | + | Missense_Mutation | A | G | OCCC_29 | p.L748S |
HRNR | 1 | 152191964 | 152191964 | + | Missense_Mutation | C | G | OCCC_29 | p.S714T |
HRNR | 1 | 152193378 | 152193378 | + | Missense_Mutation | C | T | OCCC_29 | p.G243S |
FLG | 1 | 152277315 | 152277315 | + | Missense_Mutation | C | G | OCCC_29 | p.E3349D |
OBSCN | 1 | 228494989 | 228494989 | + | Missense_Mutation | C | A | OCCC_29 | p.Q4075K |
MUC17 | 7 | 100679059 | 100679059 | + | Missense_Mutation | G | C | OCCC_29 | p.K1454N |
MUC17 | 7 | 100679919 | 100679919 | + | Missense_Mutation | A | C | OCCC_29 | p.N1741T |
AHNAK | 11 | 62290470 | 62290470 | + | Missense_Mutation | C | T | OCCC_29 | p.V3807M |
CASKIN1 | 16 | 2228904 | 2228904 | + | Splice_Site | G | A | OCCC_29 | p.R1400C |
OBSCN | 1 | 228504548 | 228504548 | + | Missense_Mutation | C | T | OCCC_64 | p.P4475L |
OBSCN | 1 | 228526694 | 228526694 | + | Missense_Mutation | G | A | OCCC_64 | p.R5742H |
LRP1B | 2 | 141457870 | 141457870 | + | Missense_Mutation | T | C | OCCC_64 | p.N2250D |
PIK3CA | 3 | 178952085 | 178952085 | + | Missense_Mutation | A | G | OCCC_64 | p.H1047R |
PLEC | 8 | 145008841 | 145008841 | + | Missense_Mutation | C | T | OCCC_64 | p.D472N |
CDK12 | 17 | 37687306 | 37687306 | + | Missense_Mutation | C | T | OCCC_64 | p.R1404C |
LAMA5 | 20 | 60892464 | 60892464 | + | Missense_Mutation | C | T | OCCC_64 | p.R2483H |
HELZ2 | 20 | 62191879 | 62191879 | + | Missense_Mutation | C | T | OCCC_64 | p.E2485K |
TCHH | 1 | 152083325 | 152083325 | + | Missense_Mutation | A | T | OCCC_60 | p.L790M |
OBSCN | 1 | 228559450 | 228559450 | + | Missense_Mutation | G | A | OCCC_60 | p.G6991R |
PIK3CA | 3 | 178936094 | 178936094 | + | Missense_Mutation | C | G | OCCC_60 | p.Q546E |
PLEC | 8 | 144999935 | 144999935 | + | Missense_Mutation | G | A | OCCC_60 | p.R1525W |
AHNAK | 11 | 62291300 | 62291300 | + | Missense_Mutation | T | C | OCCC_60 | p.K3530R |
KRAS | 12 | 25398284 | 25398284 | + | Missense_Mutation | C | T | OCCC_60 | p.G12D |
CASKIN1 | 16 | 2239305 | 2239305 | + | Missense_Mutation | G | T | OCCC_60 | p.N140K |
MINK1 | 17 | 4794986 | 4794986 | + | Missense_Mutation | G | A | OCCC_60 | p.R659H |
SPTBN4 | 19 | 40978640 | 40978640 | + | Missense_Mutation | G | A | OCCC_60 | p.A38T |
PPP2R1A | 19 | 52715983 | 52715983 | + | Missense_Mutation | G | T | OCCC_60 | p.R183L |
HELZ2 | 20 | 62191410 | 62191410 | + | Missense_Mutation | T | C | OCCC_60 | p.T2566A |
HELZ2 | 20 | 62194713 | 62194713 | + | Missense_Mutation | A | T | OCCC_60 | p.L1821Q |
FLG | 1 | 152278643 | 152278643 | + | Missense_Mutation | A | G | OCCC_57 | p.W2907R |
FLG | 1 | 152282506 | 152282506 | + | Missense_Mutation | T | A | OCCC_57 | p.Y1619F |
FLG | 1 | 152282507 | 152282507 | + | Missense_Mutation | A | G | OCCC_57 | p.Y1619H |
FLG | 1 | 152284081 | 152284081 | + | Missense_Mutation | G | T | OCCC_57 | p.P1094H |
FLG2 | 1 | 152326837 | 152326837 | + | Missense_Mutation | G | C | OCCC_57 | p.A1142G |
MUC4 | 3 | 195506887 | 195506887 | + | Missense_Mutation | A | G | OCCC_57 | p.M3855T |
MSH3 | 5 | 80064770 | 80064770 | + | Missense_Mutation | G | A | OCCC_57 | p.R734Q |
AHNAK | 11 | 62292801 | 62292801 | + | Missense_Mutation | A | T | OCCC_57 | p.F3030I |
AHNAK | 11 | 62295216 | 62295216 | + | Missense_Mutation | C | T | OCCC_57 | p.V2225M |
KRAS | 12 | 25398281 | 25398281 | + | Missense_Mutation | C | T | OCCC_57 | p.G13D |
AHNAK2 | 14 | 105411448 | 105411448 | + | Missense_Mutation | C | T | OCCC_57 | p.R3447K |
AHNAK2 | 14 | 105413093 | 105413093 | + | Missense_Mutation | C | A | OCCC_57 | p.V2899L |
CDC27 | 17 | 45214689 | 45214689 | + | Missense_Mutation | C | T | OCCC_57 | p.R581Q |
HRNR | 1 | 152191577 | 152191577 | + | Missense_Mutation | C | T | OCCC_13 | p.R843Q |
FLG2 | 1 | 152326978 | 152326978 | + | Missense_Mutation | T | C | OCCC_13 | p.N1095S |
PIK3CA | 3 | 178936091 | 178936091 | + | Missense_Mutation | G | A | OCCC_13 | p.E545K |
DST | 6 | 56480838 | 56480838 | + | Missense_Mutation | G | A | OCCC_13 | p.A2476V |
MUC17 | 7 | 100681363 | 100681363 | + | Missense_Mutation | C | A | OCCC_13 | p.F2222L |
AHNAK | 11 | 62296059 | 62296059 | + | Missense_Mutation | C | A | OCCC_13 | p.V1944L |
KRAS | 12 | 25398281 | 25398281 | + | Missense_Mutation | C | T | OCCC_13 | p.G13D |
MUC19 | 12 | 40835768 | 40835768 | + | Nonsense_Mutation | A | T | OCCC_13 | p.K706* |
MUC19 | 12 | 40878843 | 40878843 | + | Missense_Mutation | A | G | OCCC_13 | p.E3463G |
AHNAK2 | 14 | 105412294 | 105412294 | + | Missense_Mutation | A | G | OCCC_13 | p.L3165S |
PPP2R1A | 19 | 52716326 | 52716326 | + | Missense_Mutation | G | T | OCCC_13 | p.W257L |
EVPL | 17 | 74006625 | 74006625 | + | Splice_Site | - | CTGACTTCTGGGCCCTTCCTTCCTTTTTTTTTTTTTTTTTTTT | OCCC_13 | |
ARID1A | 1 | 27100369 | 27100369 | + | Missense_Mutation | A | G | OCCC_56 | p.M1361V |
FLG | 1 | 152286281 | 152286281 | + | Missense_Mutation | C | T | OCCC_56 | p.A361T |
PIK3CA | 3 | 178952085 | 178952085 | + | Missense_Mutation | A | G | OCCC_56 | p.H1047R |
PTPRN2 | 7 | 157449185 | 157449185 | + | Missense_Mutation | G | A | OCCC_56 | p.T687M |
MUC19 | 12 | 40878258 | 40878258 | + | Missense_Mutation | C | T | OCCC_56 | p.T3268I |
MUC19 | 12 | 40878260 | 40878260 | + | Missense_Mutation | A | G | OCCC_56 | p.T3269A |
KRT10 | 17 | 38975298 | 38975298 | + | Missense_Mutation | C | A | OCCC_56 | p.G497C |
TCHH | 1 | 152084549 | 152084549 | + | Missense_Mutation | G | C | OCCC_09 | p.Q382E |
HRNR | 1 | 152191783 | 152191783 | + | Missense_Mutation | G | C | OCCC_09 | p.H774Q |
FLG | 1 | 152277106 | 152277106 | + | Missense_Mutation | C | T | OCCC_09 | p.R3419Q |
FLG | 1 | 152279642 | 152279642 | + | Missense_Mutation | G | C | OCCC_09 | p.Q2574E |
FLG | 1 | 152279952 | 152279952 | + | Missense_Mutation | A | T | OCCC_09 | p.S2470R |
OBSCN | 1 | 228432152 | 228432152 | + | Missense_Mutation | G | C | OCCC_09 | p.G1121R |
OBSCN | 1 | 228467542 | 228467542 | + | Missense_Mutation | C | T | OCCC_09 | p.R2473W |
OBSCN | 1 | 228476583 | 228476583 | + | Missense_Mutation | G | A | OCCC_09 | p.V3445M |
OBSCN | 1 | 228509289 | 228509289 | + | Missense_Mutation | G | A | OCCC_09 | p.R4916Q |
CELSR3 | 3 | 48679349 | 48679349 | + | Missense_Mutation | C | T | OCCC_09 | p.R2920Q |
SHROOM3 | 4 | 77662516 | 77662516 | + | Missense_Mutation | G | A | OCCC_09 | p.D1064N |
SHROOM3 | 4 | 77662664 | 77662664 | + | Missense_Mutation | G | A | OCCC_09 | p.R1113H |
MUC17 | 7 | 100683102 | 100683102 | + | Missense_Mutation | C | T | OCCC_09 | p.T2802I |
MUC17 | 7 | 100683800 | 100683800 | + | Missense_Mutation | G | A | OCCC_09 | p.G3035S |
MUC17 | 7 | 100684875 | 100684875 | + | Missense_Mutation | G | C | OCCC_09 | p.S3393T |
PTPRN2 | 7 | 157370768 | 157370768 | + | Missense_Mutation | C | T | OCCC_09 | p.R854Q |
UNC13B | 9 | 35396918 | 35396918 | + | Missense_Mutation | G | A | OCCC_09 | p.R1090Q |
UNC13B | 9 | 35403978 | 35403978 | + | Missense_Mutation | G | A | OCCC_09 | p.R1575Q |
AHNAK | 11 | 62303477 | 62303477 | + | Missense_Mutation | C | T | OCCC_09 | p.V32I |
AHNAK2 | 14 | 105410716 | 105410716 | + | Missense_Mutation | G | T | OCCC_09 | p.P3691H |
AHNAK2 | 14 | 105414686 | 105414686 | + | Missense_Mutation | C | T | OCCC_09 | p.V2368I |
AHNAK2 | 14 | 105414938 | 105414938 | + | Missense_Mutation | C | T | OCCC_09 | p.V2284M |
VASP | 19 | 46021211 | 46021211 | + | Missense_Mutation | C | T | OCCC_09 | p.R68W |
HELZ2 | 20 | 62195085 | 62195085 | + | Missense_Mutation | G | A | OCCC_09 | p.A1697V |
MAPK8IP2 | 22 | 51042637 | 51042637 | + | Missense_Mutation | G | A | OCCC_09 | p.A38T |
MAPK8IP2 | 22 | 51045156 | 51045156 | + | Missense_Mutation | G | A | OCCC_09 | p.R466Q |
SPTA1 | 1 | 158637741 | 158637741 | + | Nonsense_Mutation | C | A | OCCC_36 | p.E649* |
PIK3CA | 3 | 178916876 | 178916876 | + | Missense_Mutation | G | A | OCCC_36 | p.R88Q |
PIK3CA | 3 | 178952072 | 178952072 | + | Missense_Mutation | A | G | OCCC_36 | p.M1043V |
MUC17 | 7 | 100683008 | 100683008 | + | Missense_Mutation | G | C | OCCC_36 | p.V2771L |
KRT5 | 12 | 52910517 | 52910517 | + | Missense_Mutation | C | T | OCCC_36 | p.R448Q |
HRNR | 1 | 152187900 | 152187900 | + | Missense_Mutation | C | T | OCCC_02 | p.G2069S |
HRNR | 1 | 152191425 | 152191425 | + | Missense_Mutation | C | T | OCCC_02 | p.G894S |
FLG | 1 | 152282147 | 152282147 | + | Missense_Mutation | G | T | OCCC_02 | p.Q1739K |
FLG | 1 | 152282753 | 152282753 | + | Missense_Mutation | G | A | OCCC_02 | p.P1537S |
FLG | 1 | 152283598 | 152283598 | + | Missense_Mutation | T | C | OCCC_02 | p.E1255G |
FLG | 1 | 152285686 | 152285686 | + | Missense_Mutation | T | C | OCCC_02 | p.H559R |
PIK3CA | 3 | 178936082 | 178936082 | + | Missense_Mutation | G | A | OCCC_02 | p.E542K |
MUC4 | 3 | 195506438 | 195506438 | + | Missense_Mutation | T | C | OCCC_02 | p.S4005G |
AHNAK2 | 14 | 105416839 | 105416839 | + | Missense_Mutation | G | T | OCCC_02 | p.A1650E |
CASKIN1 | 16 | 2229188 | 2229188 | + | Missense_Mutation | C | T | OCCC_02 | p.R1305Q |
MINK1 | 17 | 4788808 | 4788808 | + | Missense_Mutation | G | A | OCCC_02 | p.R180H |
HELZ2 | 20 | 62203578 | 62203578 | + | Missense_Mutation | G | C | OCCC_02 | p.A54G |
FLG2 | 1 | 152327408 | 152327408 | + | Missense_Mutation | T | C | OCCC_24 | p.R952G |
FLG2 | 1 | 152328778 | 152328778 | + | Missense_Mutation | C | T | OCCC_24 | p.C495Y |
SPTA1 | 1 | 158605725 | 158605725 | + | Missense_Mutation | G | A | OCCC_24 | p.L1804F |
OBSCN | 1 | 228469825 | 228469825 | + | Missense_Mutation | C | T | OCCC_24 | p.R2797W |
SHROOM3 | 4 | 77677618 | 77677618 | + | Missense_Mutation | A | G | OCCC_24 | p.K1576E |
MUC17 | 7 | 100675451 | 100675451 | + | Missense_Mutation | C | G | OCCC_24 | p.Q252E |
MUC17 | 7 | 100676667 | 100676667 | + | Missense_Mutation | A | G | OCCC_24 | p.N657S |
MUC17 | 7 | 100677995 | 100677995 | + | Missense_Mutation | A | G | OCCC_24 | p.S1100G |
MUC17 | 7 | 100678029 | 100678029 | + | Missense_Mutation | G | C | OCCC_24 | p.R1111T |
PTPRN2 | 7 | 157929370 | 157929370 | + | Missense_Mutation | C | T | OCCC_24 | p.D384N |
KRT5 | 12 | 52912805 | 52912805 | + | Missense_Mutation | C | T | OCCC_24 | p.S232N |
PPP2R1A | 19 | 52716323 | 52716323 | + | Missense_Mutation | C | T | OCCC_24 | p.S256F |
CDC27 | 17 | 45232154 | 45232154 | + | Splice_Site | - | TGGGGTTAATG | OCCC_24 | |
DSP | 6 | 7580658 | 7580658 | + | Missense_Mutation | T | A | OCCC_28 | p.L1412Q |
DSP | 6 | 7585432 | 7585432 | + | Missense_Mutation | C | T | OCCC_28 | p.T2646M |
LAMA5 | 20 | 60909062 | 60909062 | + | Missense_Mutation | G | A | OCCC_28 | p.P925S |
MUC4 | 3 | 195506386 | 195506386 | + | Missense_Mutation | G | A | OCCC_65 | p.P4022L |
AHNAK | 11 | 62298252 | 62298252 | + | Missense_Mutation | C | T | OCCC_65 | p.V1213M |
KRAS | 12 | 25398285 | 25398285 | + | Missense_Mutation | C | A | OCCC_65 | p.G12C |
DST | 6 | 56417688 | 56417688 | + | Missense_Mutation | G | A | OCCC_10 | p.S5090L |
MUC17 | 7 | 100677582 | 100677582 | + | Missense_Mutation | C | G | OCCC_10 | p.T962S |
FLG2 | 1 | 152327579 | 152327579 | + | Missense_Mutation | T | A | OCCC_58 | p.S895C |
SPTA1 | 1 | 158592886 | 158592886 | + | Missense_Mutation | A | T | OCCC_58 | p.S2003T |
OBSCN | 1 | 228433270 | 228433270 | + | Missense_Mutation | G | A | OCCC_58 | p.R1213H |
OBSCN | 1 | 228506756 | 228506756 | + | Missense_Mutation | C | T | OCCC_58 | p.S4768L |
PIK3CA | 3 | 178936082 | 178936082 | + | Missense_Mutation | G | A | OCCC_58 | p.E542K |
MUC4 | 3 | 195506555 | 195506555 | + | Missense_Mutation | C | T | OCCC_58 | p.A3966T |
SHROOM3 | 4 | 77676308 | 77676308 | + | Missense_Mutation | C | G | OCCC_58 | p.Q1558E |
MUC17 | 7 | 100680105 | 100680105 | + | Missense_Mutation | T | C | OCCC_58 | p.L1803P |
AHNAK | 11 | 62295576 | 62295576 | + | Missense_Mutation | G | A | OCCC_58 | p.L2105F |
AHNAK2 | 14 | 105414686 | 105414686 | + | Missense_Mutation | C | T | OCCC_58 | p.V2368I |
AHNAK2 | 14 | 105419180 | 105419180 | + | Missense_Mutation | A | G | OCCC_58 | p.S870P |
HELZ2 | 20 | 62191383 | 62191383 | + | Missense_Mutation | G | A | OCCC_58 | p.R2575W |
NEURL1B | 5 | 172113300 | 172113301 | + | Splice_Site | GT | - | OCCC_58 | |
FLG | 1 | 152278594 | 152278594 | + | Missense_Mutation | A | T | OCCC_54 | p.L2923Q |
FLG2 | 1 | 152323277 | 152323277 | + | Nonsense_Mutation | G | A | OCCC_54 | p.Q2329* |
MUC19 | 12 | 40876126 | 40876126 | + | Missense_Mutation | T | G | OCCC_54 | p.H2557Q |
CDC27 | 17 | 45235598 | 45235598 | + | Missense_Mutation | G | T | OCCC_54 | p.S150Y |
DSP | 6 | 7570774 | 7570804 | + | Splice_Site | TCAGGGCCATGACAATCGCCAAGGTATGTCC | - | OCCC_54 | p.IRAMTIAK560fs |
FLG2 | 1 | 152326057 | 152326057 | + | Missense_Mutation | C | G | OCCC_12 | p.G1402A |
FLG2 | 1 | 152326058 | 152326058 | + | Missense_Mutation | C | A | OCCC_12 | p.G1402C |
SPTA1 | 1 | 158606445 | 158606445 | + | Missense_Mutation | C | T | OCCC_12 | p.E1766K |
MUC19 | 12 | 40878306 | 40878306 | + | Missense_Mutation | G | A | OCCC_12 | p.G3284E |
ARID1A | 1 | 27099958 | 27099958 | + | Nonsense_Mutation | T | A | OCCC_40 | p.Y1279* |
FLG | 1 | 152280083 | 152280083 | + | Missense_Mutation | C | T | OCCC_40 | p.A2427T |
FLG2 | 1 | 152325292 | 152325292 | + | Missense_Mutation | C | G | OCCC_40 | p.S1657T |
FLG2 | 1 | 152328192 | 152328192 | + | Missense_Mutation | A | C | OCCC_40 | p.H690Q |
CELSR3 | 3 | 48698864 | 48698864 | + | Missense_Mutation | G | A | OCCC_40 | p.R402C |
PIK3CA | 3 | 178936082 | 178936082 | + | Missense_Mutation | G | A | OCCC_40 | p.E542K |
PIK3CA | 3 | 178938935 | 178938935 | + | Missense_Mutation | A | C | OCCC_40 | p.E726A |
MSH3 | 5 | 79950724 | 79950724 | + | Missense_Mutation | G | C | OCCC_40 | p.A60P |
DSP | 6 | 7558461 | 7558461 | + | Missense_Mutation | G | A | OCCC_40 | p.R129Q |
DST | 6 | 56485116 | 56485116 | + | Missense_Mutation | C | T | OCCC_40 | p.R1239H |
MUC17 | 7 | 100676360 | 100676360 | + | Missense_Mutation | C | G | OCCC_40 | p.P555A |
PLEC | 8 | 144997144 | 144997144 | + | Missense_Mutation | G | A | OCCC_40 | p.A2455V |
AHNAK2 | 14 | 105411236 | 105411236 | + | Missense_Mutation | C | T | OCCC_40 | p.A3518T |
AHNAK2 | 14 | 105413372 | 105413372 | + | Missense_Mutation | T | C | OCCC_40 | p.M2806V |
AHNAK2 | 14 | 105414134 | 105414134 | + | Missense_Mutation | G | A | OCCC_40 | p.P2552S |
AHNAK2 | 14 | 105414343 | 105414343 | + | Missense_Mutation | C | T | OCCC_40 | p.R2482K |
AHNAK2 | 14 | 105418818 | 105418818 | + | Missense_Mutation | G | C | OCCC_40 | p.D990E |
XPO6 | 16 | 28167850 | 28167850 | + | Splice_Site | T | A | OCCC_40 | |
EVPL | 17 | 74005187 | 74005187 | + | Missense_Mutation | C | T | OCCC_40 | p.E1367K |
EYA2 | 20 | 45801390 | 45801390 | + | Missense_Mutation | C | T | OCCC_40 | p.S358L |
HELZ2 | 20 | 62191321 | 62191321 | + | Missense_Mutation | A | T | OCCC_40 | p.N2595K |
MAGEE1 | X | 75648993 | 75648993 | + | Missense_Mutation | G | A | OCCC_40 | p.V224M |
MAGEE1 | X | 75650068 | 75650068 | + | Missense_Mutation | G | T | OCCC_40 | p.G582V |
RPTN | 1 | 152129136 | 152129136 | + | Missense_Mutation | C | T | OCCC_23 | p.G147S |
FLG | 1 | 152282120 | 152282120 | + | Missense_Mutation | G | T | OCCC_23 | p.Q1748K |
FLG2 | 1 | 152327858 | 152327858 | + | Missense_Mutation | T | C | OCCC_23 | p.S802G |
MUC17 | 7 | 100676109 | 100676109 | + | Missense_Mutation | A | C | OCCC_23 | p.N471T |
AHNAK | 11 | 62295801 | 62295801 | + | Missense_Mutation | T | C | OCCC_23 | p.M2030V |
AHNAK2 | 14 | 105410322 | 105410322 | + | Missense_Mutation | A | C | OCCC_23 | p.I3822M |
AHNAK2 | 14 | 105419653 | 105419653 | + | Missense_Mutation | A | G | OCCC_23 | p.L712P |
AHNAK2 | 14 | 105419654 | 105419654 | + | Missense_Mutation | G | A | OCCC_23 | p.L712F |
CDC27 | 17 | 45235670 | 45235670 | + | Splice_Site | - | AATATACA | OCCC_23 | |
FLG | 1 | 152284655 | 152284655 | + | Missense_Mutation | T | C | OCCC_38 | p.R903G |
OBSCN | 1 | 228464942 | 228464942 | + | Missense_Mutation | G | A | OCCC_38 | p.E2228K |
SHROOM3 | 4 | 77661952 | 77661952 | + | Missense_Mutation | C | T | OCCC_38 | p.R876C |
DST | 6 | 56329528 | 56329528 | + | Missense_Mutation | G | A | OCCC_38 | p.R7252C |
DST | 6 | 56481864 | 56481864 | + | Missense_Mutation | G | A | OCCC_38 | p.T2134M |
PLEC | 8 | 144996830 | 144996830 | + | Missense_Mutation | C | T | OCCC_38 | p.A2560T |
AHNAK | 11 | 62292766 | 62292766 | + | Missense_Mutation | A | T | OCCC_38 | p.D3041E |
AHNAK | 11 | 62294381 | 62294381 | + | Missense_Mutation | G | C | OCCC_38 | p.A2503G |
SPTBN2 | 11 | 66461717 | 66461717 | + | Missense_Mutation | C | T | OCCC_38 | p.V1466M |
XPO6 | 16 | 28187305 | 28187305 | + | Missense_Mutation | G | A | OCCC_38 | p.R107W |
PPP2R1A | 19 | 52716301 | 52716301 | + | Missense_Mutation | C | T | OCCC_38 | p.R249C |
Hugo_Symbol | chromosome | Start_Position | End_Position | Strand | Variant_Classification | Tumor_Seq_Allele1 | Tumor_Seq_Allele2 | Tumor_Samle_Barcode | protein_change |
---|---|---|---|---|---|---|---|---|---|
ARID1A | 1 | 27099889 | 27099889 | + | Frame_Shift_Del | G | - | OCCC_22 | p.M1256fs |
DMRTB1 | 1 | 53925429 | 53925441 | + | Frame_Shift_Del | GACTCCCTCCGGA | - | OCCC_22 | p.GTPSG101fs |
DSPP | 4 | 88535833 | 88535850 | + | In_Frame_Del | TAGCAGTGACAGCAGCAG | - | OCCC_22 | p.SSDSSS674del |
MUC19 | 12 | 40876443 | 40876475 | + | In_Frame_Del | CAGCTGGAGTGACAGGTACAAATGGACCATCAT | - | OCCC_22 | p.AGVTGTNGPSS2664del |
MAPK8IP2 | 22 | 51042073 | 51042073 | + | Frame_Shift_Ins | - | GAGGCTTTGACCTGGTGCGTCCGGCCTAAGCCTCCGTTGTT | OCCC_22 | p.G156fs |
ARID1A | 1 | 27023145 | 27023162 | + | In_Frame_Del | GCGGCGGCGGAGCCGGCA | - | OCCC_37 | p.GGGAGS85del |
LOR | 1 | 153233487 | 153233510 | + | In_Frame_Del | GCGGCGGTGGCGGTGGCGGCGGCA | - | OCCC_37 | p.GGGGGGGS22del |
ZNF717 | 3 | 75787230 | 75787313 | + | In_Frame_Del | GTTTTCCCACATTCATTGCATTCGTAGGGTTTTTCCCCTGTGTGAGTCCATTGATGGATAGTGAGGAATGACTTACGGTGAAAC | - | OCCC_37 | p.437_465TFHRKSFLTIHQWTHTGEKPYECNECGKT>T |
DST | 6 | 56470589 | 56470589 | + | In_Frame_Ins | - | TAT | OCCC_37 | p.2734_2735insN |
PLEC | 8 | 145003635 | 145003679 | + | In_Frame_Del | GCAGCCGCAGGCGGTGCACGGTGCGCGTCTCACAGGCCTCCAGCT | - | OCCC_37 | p.QLEACETRTVHRLRL1132del |
ANK3 | 10 | 61828704 | 61828745 | + | In_Frame_Del | TGGTGGTGGTGGTAGTGGTGGTAGTGGTGGTGGTGGTGGCAG | - | OCCC_37 | p.TATTTTTTTTTTTT3965del |
KRTAP5-2 | 11 | 1618958 | 1619017 | + | In_Frame_Del | ACTGGCAGCACACAGGGACACAACAGTTGGACTGGCAGCAACAGGGCTTGCAGCAGCTGG | - | OCCC_37 | p.SSCCKPCCCQSNCCVPVCCQ155del |
MUC19 | 12 | 40878865 | 40878924 | + | In_Frame_Del | ATCACCTGGGGTGACAGGGACAACTGGATCATCAACTGGGGTGACAGGGATAACTGGATT | - | OCCC_37 | p.SPGVTGTTGSSTGVTGITGL3471del |
KRT5 | 12 | 52913704 | 52913781 | + | In_Frame_Del | CCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCA | - | OCCC_37 | p.100_126GAGSGFGFGGGAGGGFGLGGGAGFGGG>G |
SPTB | 14 | 65216035 | 65216035 | + | Frame_Shift_Ins | - | G | OCCC_37 | p.K2326fs |
CDK12 | 17 | 37687471 | 37687471 | + | Frame_Shift_Ins | - | G | OCCC_37 | p.W1459fs |
MAGEE1 | X | 75648505 | 75648540 | + | In_Frame_Del | CTGAGGGCCCAAGCACCTCCGTTCTGCCCACCTCCG | - | OCCC_37 | p.EGPSTSVLPTSA62del |
ARID1A | 1 | 27099418 | 27099418 | + | Frame_Shift_Ins | - | A | OCCC_50 | p.D1219fs |
ARID1A | 1 | 27106877 | 27106877 | + | Frame_Shift_Ins | - | C | OCCC_50 | p.C2163fs |
TCHH | 1 | 152080845 | 152080868 | + | In_Frame_Del | CTCCTGGCGCAGCTGTTGTTGGCC | - | OCCC_50 | p.GQQQLRQE1609del |
FLG | 1 | 152282104 | 152282104 | + | Frame_Shift_Ins | - | CACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCACCAAGAGTCCACACGTGGCCAGTCAGGGGAAAGGTCTGGA | OCCC_50 | p.G1753fs |
FLG2 | 1 | 152323402 | 152323402 | + | Frame_Shift_Ins | - | CTGGCTGTCTTTGTTGAGATCCAGCTTGGCCCTGAATGTGTCCTGAATGTGTGTGTGAG | OCCC_50 | p.G2287fs |
SPTA1 | 1 | 158641210 | 158641210 | + | Frame_Shift_Ins | - | GAAGAGAAGA | OCCC_50 | p.L508fs |
CELSR3 | 3 | 48677161 | 48677206 | + | Frame_Shift_Del | GAGGGCCCAAGCACAGAGGCTGTGGCAGAAGGTGTGGCAGTGGTGT | - | OCCC_50 | p.HTTATPSATASVLGPS3271fs |
SHROOM3 | 4 | 77677654 | 77677655 | + | Frame_Shift_Del | GC | - | OCCC_50 | p.A1589fs |
DSPP | 4 | 88535832 | 88535832 | + | In_Frame_Ins | - | CAGTAGTGACAGCAGCAG | OCCC_50 | p.672_673insAVVTAA |
DSPP | 4 | 88536263 | 88536277 | + | In_Frame_Del | GATAGCGACAGCAGC | - | OCCC_50 | p.DSDSS817del |
PLEC | 8 | 144997994 | 144998029 | + | In_Frame_Del | GCCGCGCCGACTCCTGCTCCGCTCGCTCCCGCAGGC | - | OCCC_50 | p.RLRERAEQESAR2160del |
MUC19 | 12 | 40873358 | 40873387 | + | In_Frame_Del | ACAACTGGACCATCAGCTGACGGGTCAGGA | - | OCCC_50 | p.TTGPSADGSG1635del |
MUC19 | 12 | 40878199 | 40878228 | + | In_Frame_Del | AACTGGACTATCAGCTGAAGCAACAGAGAT | - | OCCC_50 | p.TGLSAEATEI3249del |
MINK1 | 17 | 4789807 | 4789848 | + | In_Frame_Del | CCCACGGAGCAGCTACTGAAGTTTCCCTTCATCCGGGACCAG | - | OCCC_50 | p.PTEQLLKFPFIRDQ279del |
KRT10 | 17 | 38975120 | 38975137 | + | In_Frame_Del | CCGCCGCCGGAGCTGCTG | - | OCCC_50 | p.550_556GSSSGGG>G |
EVPL | 17 | 74010547 | 74010551 | + | Frame_Shift_Del | TCGCT | - | OCCC_50 | p.SD777fs |
EVPL | 17 | 74023206 | 74023232 | + | In_Frame_Del | TTGGGGGACCCCTTGGCGGGGGAGCCC | - | OCCC_50 | p.16_25KGSPAKGSPK>K |
SPTBN4 | 19 | 41062156 | 41062156 | + | Frame_Shift_Ins | - | A | OCCC_50 | p.G1751fs |
MAPK1 | 22 | 22221709 | 22221714 | + | In_Frame_Del | CCGCCG | - | OCCC_50 | p.AA6del |
TCHH | 1 | 152081063 | 152081063 | + | In_Frame_Ins | - | CTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTG | OCCC_04 | p.1543_1544insQRQRKFLQEEQQLRRQ |
FLG2 | 1 | 152327352 | 152327352 | + | In_Frame_Ins | - | TGACCTGAGCCTGATCCATGTTGGCCAAAGCCAGAGGAT | OCCC_04 | p.970_970Q>QSSGFGQHGSGSGQ |
FLG2 | 1 | 152328234 | 152328234 | + | In_Frame_Ins | - | CCTGAGCCAGAAACATGTTGTCCAAAGCCAGAGGACTGA | OCCC_04 | p.676_676G>GQSSGFGQHVSGSG |
MUC4 | 3 | 195512933 | 195512933 | + | In_Frame_Ins | - | GGTGGTGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGG | OCCC_04 | p.1839_1840insPLPVTDASSASTGDTTSLPVTIPSSASSGHTT |
DSPP | 4 | 88535719 | 88535719 | + | In_Frame_Ins | - | AGTGACAGTAAGTCAGACAGCAGTGACAGCAACAGC | OCCC_04 | p.636_636S>RVTVSQTAVTATA |
DSPP | 4 | 88536388 | 88536388 | + | In_Frame_Ins | - | AGTGACAGTAGTAATAGTAGTGACAGCAGCGATAGCAGTGACAGCAGCAACAGC | OCCC_04 | p.859_859S>RVTVVIVVTAAIAVTAATA |
MUC19 | 12 | 40876933 | 40876933 | + | In_Frame_Ins | - | ACAGGGACAACTGGACCATCACCTGGAGTAACAGGTACAACTGGAACACCAGCTGGGGTT | OCCC_04 | p.2827_2828insQGQLDHHLE*QVQLEHQLGL |
MUC19 | 12 | 40877751 | 40877751 | + | In_Frame_Ins | - | TGGATCATCAGCTGGGGTGACAGGGAAAAC | OCCC_04 | p.3099_3099I>MDHQLG*QGKL |
ARID1A | 1 | 27100182 | 27100182 | + | Frame_Shift_Del | G | - | OCCC_47 | p.P1326fs |
LRP1B | 2 | 141093297 | 141093297 | + | Frame_Shift_Ins | - | CAGTGAGTAGTGTAGTAACTGAACCAATGCATTCTAGAATGCATTGGTT | OCCC_47 | p.W4001fs |
MUC17 | 7 | 100678287 | 100678287 | + | In_Frame_Ins | - | CAGTTCACCTCCTCCAACTGCTGAAGTTACCAG | OCCC_47 | p.1197_1197A>AVHLLQLLKLPA |
MUC19 | 12 | 40877705 | 40877764 | + | In_Frame_Del | GGGGTGACAGGGACAACTGGACTATCAGCTGGGGAGACAGGGAAAATTGGATCATCAGCT | - | OCCC_47 | p.GVTGTTGLSAGETGKIGSSA3084del |
KRT1 | 12 | 53073801 | 53073830 | + | In_Frame_Del | CCACCAAAGCCACCACCACCAAAGCCACCA | - | OCCC_47 | p.101_111GGGFGGGGFGG>G |
AHNAK2 | 14 | 105419178 | 105419178 | + | Frame_Shift_Del | G | - | OCCC_47 | p.S871fs |
MINK1 | 17 | 4793912 | 4793932 | + | In_Frame_Del | AACAGCAGCAGCAGCTTCAGA | - | OCCC_47 | p.QQQQLQK484del |
HELZ2 | 20 | 62196884 | 62196884 | + | In_Frame_Ins | - | ACG | OCCC_47 | p.1098_1099insV |
FLG | 1 | 152280877 | 152280878 | + | Frame_Shift_Del | CC | - | OCCC_25 | p.G2162fs |
MUC4 | 3 | 195506651 | 195506652 | + | Frame_Shift_Del | CA | - | OCCC_25 | p.A3934fs |
TCHH | 1 | 152083757 | 152083795 | + | In_Frame_Del | GCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCA | - | OCCC_01 | p.LLKSEEQEERRQQ633del |
FLG2 | 1 | 152324557 | 152324557 | + | Frame_Shift_Ins | - | TG | OCCC_01 | p.S1902fs |
FLG2 | 1 | 152326888 | 152326926 | + | In_Frame_Del | GACTGACCTGAGCCCGATCCATATTGGCCAAAGCCAGAG | - | OCCC_01 | p.1112_1125SSGFGQYGSGSGQS>S |
LOR | 1 | 153233584 | 153233628 | + | In_Frame_Del | CTCCGGCGGCGGTGGCTACTCTGGCGGCGGCTGCGGCGGGGGCTC | - | OCCC_01 | p.SGGGGYSGGGCGGGS54del |
SPTA1 | 1 | 158581061 | 158581061 | + | Frame_Shift_Del | C | - | OCCC_01 | p.G2418fs |
OBSCN | 1 | 228520964 | 228520964 | + | Frame_Shift_Del | C | - | OCCC_01 | p.L5266fs |
OBSCN | 1 | 228523964 | 228523964 | + | In_Frame_Ins | - | AGGAAAGGTACAGTCAGGGTGGGTGCATGCTTGACTGTACCTTTCCTCTGCCCACCA | OCCC_01 | p.5511_5512insGKVQSGWVHA*LYLSSAHQ |
DSPP | 4 | 88536974 | 88536982 | + | In_Frame_Del | AGCAGCAAT | - | OCCC_01 | p.SSN1054del |
DST | 6 | 56437786 | 56437786 | + | In_Frame_Ins | - | CTTTTTGACTTTTTTTTTTTT | OCCC_01 | p.4227_4227T>KKKKSQKA |
MUC19 | 12 | 40876900 | 40876900 | + | Frame_Shift_Ins | - | GTGACAGGGACAACTAGACTATCAGCTGGAGTGACAGTCT | OCCC_01 | p.-2816fs |
MUC19 | 12 | 40877413 | 40877442 | + | In_Frame_Del | GACAGGGACAACTGGACCATCAGCTGGGGC | - | OCCC_01 | p.TGTTGPSAGA2987del |
WWP2 | 16 | 69967951 | 69967951 | + | In_Frame_Ins | - | TGCCTGCAGATCAACCCCGCCTCCTCCATCAACCCGGGT | OCCC_01 | p.588_589insACRSTPPPPSTRV |
WWP2 | 16 | 69972971 | 69972971 | + | Frame_Shift_Ins | - | CAGTTTGTCACCGGTACCTGCCGCCTGCCCGGTGACAAACTGCAGCAGCCGGATC | OCCC_01 | p.Q796fs |
CDK12 | 17 | 37687209 | 37687209 | + | Frame_Shift_Ins | - | AAGAACAGGACCTTCTCAGGCTCTCTGAGCCACCTTGGAAGGTCCTGTTCTTCACCAGGGTC | OCCC_01 | p.-1372fs |
HELZ2 | 20 | 62197069 | 62197069 | + | Frame_Shift_Ins | - | CACCACGTCTTCCTTCACTGCGTCTCCTGCTGGTGAAGGAAGACGTGGTGCCCGGGGCACCACGT | OCCC_01 | p.P1036fs |
DSPP | 4 | 88536515 | 88536520 | + | In_Frame_Del | AGTGAT | - | OCCC_32 | p.SD903del |
MUC19 | 12 | 40877650 | 40877679 | + | In_Frame_Del | GACAGGGACAACTGAACCATTAGCTGGAGG | - | OCCC_32 | p.TGTTEPLAGG3066del |
ARID3A | 19 | 971949 | 971949 | + | In_Frame_Ins | - | GCA | OCCC_32 | p.555_556insA |
RPTN | 1 | 152128233 | 152128268 | + | In_Frame_Del | TCTGGCCTTGTCTGTCTGGCTGACCATAGTGGGAAC | - | OCCC_34 | p.SSHYGQPDRQGQ436del |
ARID1A | 1 | 27105826 | 27105826 | + | Frame_Shift_Del | C | - | OCCC_35 | p.P1813fs |
TCHH | 1 | 152083743 | 152083781 | + | In_Frame_Del | CTCGCGCCTTAGTTGCTGCTGGCGCCTCTCCTCCTGCTC | - | OCCC_35 | p.EQEERRQQQLRRE638del |
RPTN | 1 | 152127670 | 152127675 | + | In_Frame_Del | TCCCTG | - | OCCC_35 | p.QG634del |
OBSCN | 1 | 228560130 | 228560171 | + | In_Frame_Del | GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA | - | OCCC_35 | p.SQSEEEEQEEARAE7218del |
DSPP | 4 | 88537521 | 88537556 | + | In_Frame_Del | ACAGCAGTGACAGCAGCGATAGCAGTGACAGCAGCA | - | OCCC_35 | p.SSDSSDSSDSSN1237del |
DSP | 6 | 7542206 | 7542206 | + | In_Frame_Ins | - | CCGAGTCTGGCCCGGACCTGCGCTACGAGGTGACCAGGT | OCCC_35 | p.19_20insPSLARTCATR*PG |
DST | 6 | 56417210 | 56417210 | + | Frame_Shift_Del | A | - | OCCC_35 | p.V5249fs |
AHNAK | 11 | 62291447 | 62291461 | + | In_Frame_Del | TTGGGCATTTTCATC | - | OCCC_35 | p.3476_3481KMKMPK>K |
MUC19 | 12 | 40875869 | 40875898 | + | In_Frame_Del | CAATCAGCTGGAGTCACAATGACATCTATC | - | OCCC_35 | p.QSAGVTMTSI2472del |
MUC19 | 12 | 40877650 | 40877679 | + | In_Frame_Del | GACAGGGACAACTGAACCATTAGCTGGAGG | - | OCCC_35 | p.TGTTEPLAGG3066del |
MUC19 | 12 | 40878242 | 40878271 | + | In_Frame_Del | GCTGGGGTGACAGGGACAACTGGACTATCT | - | OCCC_35 | p.AGVTGTTGLS3263del |
KRT5 | 12 | 52908926 | 52908949 | + | In_Frame_Del | CAAGACCTCCACCGAGGCCGCCGC | - | OCCC_35 | p.GGGLGGGL517del |
SPTB | 14 | 65236348 | 65236348 | + | Frame_Shift_Ins | - | CAAGCTCCAGGCAGGCACTGAAGTTCTTGCTACGGAGCTTGGCGAGT | OCCC_35 | p.G1966fs |
AHNAK2 | 14 | 105408153 | 105408182 | + | In_Frame_Del | GTGCCCTTTGAGGCCGGCTACCTCGGGCAT | - | OCCC_35 | p.MPEVAGLKGH4536del |
WWP2 | 16 | 69965477 | 69965478 | + | Frame_Shift_Del | CC | - | OCCC_35 | p.FQ529fs |
MINK1 | 17 | 4797305 | 4797337 | + | In_Frame_Del | GTCAGCACCATGGTGGTCCACGACGTCGAGGAG | - | OCCC_35 | p.VSTMVVHDVEE863del |
MINK1 | 17 | 4797342 | 4797368 | + | In_Frame_Del | CCGGGACCCAGCCCCCATACGGGGGCG | - | OCCC_35 | p.875_884TGTQPPYGGG>S |
ARID3A | 19 | 968463 | 968465 | + | In_Frame_Del | CAT | - | OCCC_35 | p.I519del |
SPTBN4 | 19 | 41009746 | 41009747 | + | Frame_Shift_Del | GG | - | OCCC_35 | p.G458fs |
SPTBN4 | 19 | 41009747 | 41009747 | + | In_Frame_Ins | - | TTT | OCCC_35 | p.458_458G>VW |
VASP | 19 | 46025639 | 46025674 | + | In_Frame_Del | CCAGGACCTCCCCCTCCTCCAGGTCCCCCCCCACCC | - | OCCC_35 | p.PGPPPPPGPPPP174del |
MAGEE1 | X | 75648778 | 75648813 | + | In_Frame_Del | TGCCGCCCACCGCCTCTGAGGTACCGAGCACCTCCC | - | OCCC_35 | p.PPTASEVPSTSL153del |
RPTN | 1 | 152129116 | 152129151 | + | In_Frame_Del | GTCTTGTCTCTCAGGCTGACCATGGTGGGAATCTCC | - | OCCC_03 | p.GDSHHGQPERQD142del |
SPTA1 | 1 | 158641157 | 158641157 | + | Frame_Shift_Ins | - | AAGGCTTCCTCAAAGTCTTCATGCTTTGTCTTCATGCTTCTGAAGCCCTTCTTCAGAAGCATGAAGACTTT | OCCC_03 | p.F525fs |
HRNR | 1 | 152191631 | 152191669 | + | In_Frame_Del | CCTGAGCCAGACTCGTGTTGCCCAAAACCAGAAGCCTGG | - | OCCC_69 | p.812_825GQASGFGQHESGSG>G |
HRNR | 1 | 152192822 | 152192860 | + | In_Frame_Del | TGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCTGTGT | - | OCCC_69 | p.415_428QHSSGSGQSPGHGQ>Q |
HRNR | 1 | 152193038 | 152193076 | + | In_Frame_Del | CCTGAGCCAGACTCATGTTGCCCAAAGCCAGAAGTCTGG | - | OCCC_69 | p.343_356GQTSGFGQHESGSG>G |
FLG | 1 | 152281747 | 152281749 | + | In_Frame_Del | TTC | - | OCCC_69 | p.K1872del |
LRP1B | 2 | 141771184 | 141771184 | + | Frame_Shift_Ins | - | GCAATGTCACCTCACTTGTTATCAAATCTAGTTGAGGTGACATTGCTGAGGCATGAAAGACCACCCCTATTTGG | OCCC_69 | p.L774fs |
DST | 6 | 56469384 | 56469384 | + | Frame_Shift_Ins | - | CAATTCAGGAATCTGAACCTCCGCCTTGTCTCCAAGATCCCAAGAAAAGGAGGTTCAGATCCCAAGAAAAGGAGGTT | OCCC_69 | p.S3137fs |
MUC17 | 7 | 100677572 | 100677572 | + | In_Frame_Ins | - | CTGAAGCCACTTCATCTCCTACAACTGCTGAAGGTACCAGCAGTT | OCCC_69 | p.958_959insLKPLHLLQLLKVPAV |
PLEC | 8 | 144992791 | 144992791 | + | In_Frame_Ins | - | GGAAGCCTGTGGCTGCCTGTGCCACAGGCTTCCTGCTGGACCCGGTGAAGGGGGAGC | OCCC_69 | p.3869_3870insRSPFTGSSRKPVAQAATGF |
PLEC | 8 | 144993014 | 144993014 | + | Frame_Shift_Ins | - | GATGATCCGAGCCTCGAACAGGTCCTCAGCCGTGAGGCGGCGGCGCACCT | OCCC_69 | p.-3795fs |
AHNAK | 11 | 62293497 | 62293497 | + | In_Frame_Ins | - | GACATCAATGTCAGCCTTGGGCAGGTTCACATTGATGTCTCAGGACCGAAAGTGGATGTTGAATGTCCCGAT | OCCC_69 | p.2797_2798insIGTFNIHFRS*DINVNLPKADIDV |
SPTBN2 | 11 | 66459096 | 66459096 | + | In_Frame_Ins | - | CCGGGAGAACTCTCGGAATTTGTCTCGGAGCATCTGCTTCCTCTACCAGATGCTCCGAGACAAATT | OCCC_69 | p.1741_1742insNLSRSIW*RKQMLRDKFREFSR |
SPTBN2 | 11 | 66481836 | 66481836 | + | In_Frame_Ins | - | CTTCTCCTTGTTGTCTTCTGTCTCCACACTGATGACAACAAGGAGAAGAAGTCAGCCAAGGATGCCCTG | OCCC_69 | p.175_176insQGILG*LLLLVVISVETEDNKEK |
MUC19 | 12 | 40876495 | 40876524 | + | In_Frame_Del | AACTGGATCATCACCTGGAGTGACAGGGAC | - | OCCC_69 | p.TGSSPGVTGT2691del |
MUC19 | 12 | 40877680 | 40877709 | + | In_Frame_Del | GACAGGGACAACTGGAATATTAGCCGGGGT | - | OCCC_69 | p.TGTTGILAGV3076del |
EVPL | 17 | 74004643 | 74004643 | + | In_Frame_Ins | - | TGCGCTCCCTGTTGAGCATCTCCCACACGCGGGCCC | OCCC_69 | p.1547_1548insRARVWEMLNRER |
SPTBN4 | 19 | 41066181 | 41066181 | + | Frame_Shift_Ins | - | GCCTGTGAGGATGCCCGCCTGCATGTCAGCTCCACAGCCGACAT | OCCC_69 | p.-1930fs |
TCHH | 1 | 152084176 | 152084193 | + | In_Frame_Del | TGCTGCTCGCGCCTCTCC | - | OCCC_63 | p.500_506QERREQQ>Q |
RPTN | 1 | 152127299 | 152127340 | + | In_Frame_Del | CTGTCTCGTCTCTGATGGCTCTGCTCATGTTCATGGGTTTGT | - | OCCC_63 | p.745_759RQTHEHEQSHQRRDR>R |
RPTN | 1 | 152129036 | 152129107 | + | In_Frame_Del | GAATCTCTGTCTTGTCTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGG | - | OCCC_63 | p.156_180SHHGQSEKQDRDSHHSQPERQDRDS>S |
OBSCN | 1 | 228560156 | 228560191 | + | In_Frame_Del | AGGAGGCCAGGGCTGAGTCCCAGTCGGAGGAGCAGC | - | OCCC_63 | p.EARAESQSEEQQ7227del |
CELSR3 | 3 | 48677161 | 48677206 | + | Frame_Shift_Del | GAGGGCCCAAGCACAGAGGCTGTGGCAGAAGGTGTGGCAGTGGTGT | - | OCCC_63 | p.HTTATPSATASVLGPS3271fs |
SHROOM3 | 4 | 77662005 | 77662005 | + | In_Frame_Ins | - | CTCTCCAGCGAGCCGGGCCTGTCCCGCCACTCGGGCTCC | OCCC_63 | p.894_895insSPASRACPATRAP |
SPTBN2 | 11 | 66463902 | 66463903 | + | Frame_Shift_Del | TT | - | OCCC_63 | p.K1375fs |
MUC19 | 12 | 40878780 | 40878869 | + | In_Frame_Del | CTGGGGTGACAGGGAAAACTGGACTATCTGCTGGAGTGACAGAGACAATTGGACTATCAGCTGAAGCGACAGGGACAATTGGATCATCAC | - | OCCC_63 | p.GVTGKTGLSAGVTETIGLSAEATGTIGSSP3443del |
KRT5 | 12 | 52908926 | 52908949 | + | In_Frame_Del | CAAGACCTCCACCGAGGCCGCCGC | - | OCCC_63 | p.GGGLGGGL517del |
KRT1 | 12 | 53073827 | 53073853 | + | In_Frame_Del | ACCACCACCAAAGCCACCACCACCATA | - | OCCC_63 | p.YGGGGFGGG94del |
ERBB2 | 17 | 37866709 | 37866709 | + | Frame_Shift_Ins | - | GCCAGCTGTGTGACTGCCTGTCCCTGTGAGT | OCCC_63 | p.-293fs |
MAPK1 | 22 | 22123530 | 22123530 | + | Frame_Shift_Ins | - | CAAAAATTAGTTCTTTGAGCTAATTTTTGAAGAGACTG | OCCC_63 | p.E349fs |
AHNAK | 11 | 62296259 | 62296259 | + | Frame_Shift_Del | A | - | OCCC_67 | p.V1877fs |
AHNAK2 | 14 | 105405032 | 105405032 | + | Frame_Shift_Ins | - | ACAGC | OCCC_67 | p.Q5586fs |
AHNAK2 | 14 | 105419006 | 105419020 | + | In_Frame_Del | TGGGCATCTTGAAAC | - | OCCC_67 | p.SFKMP923del |
SPTBN4 | 19 | 41074024 | 41074101 | + | In_Frame_Del | GCGGCGGCCGGAGCGGCAGGAGTCAGCGGAGCACGAGGCGGCACACAGCCTTACCCTGGGCCGCTATGAGCAGATGGA | - | OCCC_67 | p.RRPERQESAEHEAAHSLTLGRYEQME2265del |
KRT10 | 17 | 38975164 | 38975166 | + | In_Frame_Del | GCC | - | OCCC_41 | p.G541del |
HRNR | 1 | 152187804 | 152187842 | + | In_Frame_Del | AGCCAGGCCCATGTTGGCCACTGCTGGAAGACCGACCGG | - | OCCC_17 | p.SGRSSSSGQHGPG2088del |
LOR | 1 | 153233825 | 153233923 | + | In_Frame_Del | GGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCGGCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGC | - | OCCC_17 | p.GGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSS134del |
LRP1B | 2 | 141055447 | 141055447 | + | Frame_Shift_Ins | - | CAGGTTCCTCCATTTTGACAAAAATGGAGGAACCTGCATTGTGA | OCCC_17 | p.-4299fs |
MUC4 | 3 | 195510219 | 195510266 | + | In_Frame_Del | TGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGA | - | OCCC_17 | p.SSTGDTTPLLVTETSS2729del |
DSPP | 4 | 88535504 | 88535518 | + | In_Frame_Del | AGTGACAGCAGTGAC | - | OCCC_17 | p.SDSSD569del |
NEURL1B | 5 | 172113743 | 172113743 | + | Frame_Shift_Ins | - | TCAG | OCCC_17 | p.P495fs |
DST | 6 | 56481871 | 56481871 | + | Frame_Shift_Ins | - | CTTGTTAAGAGTTTTCTGAACTTCTTCAACT | OCCC_17 | p.F2132fs |
PLEC | 8 | 144997814 | 144997843 | + | In_Frame_Del | CCTCCGCCTCCTCAGCCGCCCGCCGGGCCG | - | OCCC_17 | p.AARRAAEEAE2222del |
KRT1 | 12 | 53069244 | 53069303 | + | In_Frame_Del | ACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACC | - | OCCC_17 | p.GSYGSGGGGGGGRGSYGSGG537del |
MINK1 | 17 | 4797309 | 4797368 | + | In_Frame_Del | GCACCATGGTGGTCCACGACGTCGAGGAGATCACCGGGACCCAGCCCCCATACGGGGGCG | - | OCCC_17 | p.TMVVHDVEEITGTQPPYGGG865del |
SPTBN4 | 19 | 41018722 | 41018730 | + | In_Frame_Del | GCGGGCGCA | - | OCCC_17 | p.AGA679del |
SPTBN4 | 19 | 41018936 | 41018982 | + | Frame_Shift_Del | GCGCGGCGAGCGCCCGGCGCCGCTGGCAGAGGCTGGAAGAGGCGGCG | - | OCCC_17 | p.RAASARRRWQRLEEAA747fs |
LAMA5 | 20 | 60904886 | 60904886 | + | In_Frame_Ins | - | ACCGTGCGT | OCCC_17 | p.1355_1356insTHG |
RPTN | 1 | 152129044 | 152129151 | + | In_Frame_Del | GTCTTGTCTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAATCTCTGTCTTGTCTCTCAGGCTGACCATGGTGGGAATCTCC | - | OCCC_18 | p.GDSHHGQPERQDRDSHHGQSEKQDRDSHHSQPERQD142del |
LRP1B | 2 | 141986949 | 141986949 | + | Frame_Shift_Ins | - | AACAATA | OCCC_18 | p.Y218fs |
LRP1B | 2 | 141986951 | 141986951 | + | Frame_Shift_Ins | - | TGGTGCA | OCCC_18 | p.-217fs |
SHROOM3 | 4 | 77680731 | 77680731 | + | Frame_Shift_Ins | - | A | OCCC_18 | p.N1745fs |
DSPP | 4 | 88535567 | 88535626 | + | In_Frame_Del | AGTGACAGCAGTGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGACAGT | - | OCCC_18 | p.SDSSDSSDSDSSDSSNSSDS585del |
PLEC | 8 | 144996883 | 144996883 | + | Frame_Shift_Ins | - | AG | OCCC_18 | p.R2542fs |
AHNAK2 | 14 | 105416683 | 105416683 | + | Frame_Shift_Ins | - | TGAGG | OCCC_18 | p.K1702fs |
HRNR | 1 | 152187854 | 152187931 | + | In_Frame_Del | TGTCGGCCATAGCTGGGAGACTGCCTTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC | - | OCCC_48 | p.QGSGSGQSPGHGQRGSGSRQSPSYGR2058del |
MUC4 | 3 | 195508174 | 195508174 | + | In_Frame_Ins | - | GAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT | OCCC_48 | p.3425_3426insHVTSPSSASTGHATPL |
UNC13B | 9 | 35236530 | 35236530 | + | Frame_Shift_Ins | - | CCATGGTGGGGACTGTGTGGATTGCGCTGAAGACTATTCTGACGAATAGTCTTCAGCGCAAT | OCCC_48 | p.T73fs |
SPTBN2 | 11 | 66472923 | 66472923 | + | In_Frame_Ins | - | TCGCAAGGTCTATACTCTGAGAAAGTCCCTCTCCTGTGACTT | OCCC_48 | p.607_608insESHRRGTFSEYRPC |
MAPK8IP2 | 22 | 51041768 | 51041768 | + | In_Frame_Ins | - | GAG | OCCC_48 | p.97_98insR |
RPTN | 1 | 152127563 | 152127563 | + | Frame_Shift_Ins | - | AGAGACTGGCAATCATGCAGTA | OCCC_66 | p.P671fs |
CELSR3 | 3 | 48686212 | 48686223 | + | In_Frame_Del | GGCCAGCAGGTG | - | OCCC_66 | p.HLLA2236del |
ANK3 | 10 | 61828704 | 61828706 | + | In_Frame_Del | TGG | - | OCCC_66 | p.T3978del |
MUC19 | 12 | 40873080 | 40873109 | + | In_Frame_Del | TATCAGGGACAACTGGACCATTAGCTGAAA | - | OCCC_66 | p.SGTTGPLAEI1543del |
MUC19 | 12 | 40873358 | 40873387 | + | In_Frame_Del | ACAACTGGACCATCAGCTGACGGGTCAGGA | - | OCCC_66 | p.TTGPSADGSG1635del |
CTNNB1 | 3 | 41266973 | 41266973 | + | Frame_Shift_Ins | - | TGGGACCTTGCATAACCTTTCCCATCATCGTGATGGCCAGTAAGCCCTCACGATGA | OCCC_19 | p.A215fs |
MUC4 | 3 | 195514433 | 195514433 | + | Frame_Shift_Ins | - | GACGCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCA | OCCC_19 | p.G1340fs |
DSPP | 4 | 88536764 | 88536781 | + | In_Frame_Del | GATAGCAGTGACAGCAGT | - | OCCC_19 | p.DSSDSS996del |
AHNAK | 11 | 62287913 | 62287927 | + | In_Frame_Del | TTGGGCATTTTCACT | - | OCCC_19 | p.4654_4659KVKMPK>K |
KRT10 | 17 | 38978482 | 38978550 | + | In_Frame_Del | CCACCAAAGCTGCCCCCACCAAAGCTGCCACCTCCGAAACTGCCCCCTCCAAAGATGCCTCCATAACTC | - | OCCC_19 | p.96_119GSYGGIFGGGSFGGGSFGGGSFGG>G |
SPTBN4 | 19 | 41040166 | 41040166 | + | In_Frame_Ins | - | CTCCTTCACATGGAGAGCCAGCTGCAAGACGTGGTCTCCTCCAGGGTCCACGTCTTGCAGCTGGCT | OCCC_19 | p.1426_1426L>LSFTWRASCKTWSPPGSTSCSWL |
MAGEE1 | X | 75649425 | 75649460 | + | In_Frame_Del | GTGCCGCCCACCGCCTCTGATGGATCGGACACCTCC | - | OCCC_19 | p.VPPTASDGSDTS368del |
OBSCN | 1 | 228560130 | 228560171 | + | In_Frame_Del | GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA | - | OCCC_51 | p.SQSEEEEQEEARAE7218del |
LRP1B | 2 | 141457914 | 141457914 | + | Frame_Shift_Del | C | - | OCCC_51 | p.R2235fs |
MUC4 | 3 | 195489005 | 195489067 | + | In_Frame_Del | GAGGCGTGGAGGATGTTGGAGAGCGCGATCACCGAGACGGTGGCCCAGCCGTCGAAGCTGGCC | - | OCCC_51 | p.565_586SASFDGWATVSVIALSNILHAS>S |
MSH3 | 5 | 79950724 | 79950724 | + | In_Frame_Ins | - | CAGCGC | OCCC_51 | p.59_60insQR |
MUC17 | 7 | 100681304 | 100681304 | + | Frame_Shift_Ins | - | CAACTTCTGAAGGTACCAGCATGCCAACCTT | OCCC_51 | p.T2203fs |
AHNAK | 11 | 62286529 | 62286529 | + | Frame_Shift_Ins | - | GGTGCCTGGAGTTCACCCTCCAGTTTGGGGCTAGGGAGAG | OCCC_51 | p.-5120fs |
MUC19 | 12 | 40873080 | 40873109 | + | In_Frame_Del | TATCAGGGACAACTGGACCATTAGCTGAAA | - | OCCC_51 | p.SGTTGPLAEI1543del |
MUC19 | 12 | 40878944 | 40878973 | + | In_Frame_Del | ACAACTGGATTGTCAACTGAAGTGACAGGA | - | OCCC_51 | p.TTGLSTEVTG3497del |
AHNAK2 | 14 | 105415500 | 105415520 | + | In_Frame_Del | GGGGCCCTTGATGTCCACCTG | - | OCCC_51 | p.QVDIKGP2090del |
CDK12 | 17 | 37627658 | 37627711 | + | In_Frame_Del | ACCCCTCCACCTCTTCCCACAATTGCTTCTCCCCCACCCCCTCTACCAACTACT | - | OCCC_51 | p.TPPPLPTIASPPPPLPTT525del |
ERBB2 | 17 | 37881624 | 37881624 | + | Frame_Shift_Ins | - | AGAA | OCCC_51 | p.F899fs |
EVPL | 17 | 74010547 | 74010551 | + | Frame_Shift_Del | TCGCT | - | OCCC_51 | p.SD777fs |
SPTBN4 | 19 | 41018722 | 41018730 | + | In_Frame_Del | GCGGGCGCA | - | OCCC_51 | p.AGA679del |
MAGEE1 | X | 75648566 | 75648601 | + | In_Frame_Del | GCCCACCATCTCTGAGGCCTCAAGCGCCTCCGGGCA | - | OCCC_51 | p.PTISEASSASGQ82del |
TCHH | 1 | 152080326 | 152080397 | + | In_Frame_Del | GCGCAGCTGCTGTTCCTCCCTCTCCTGGCGGAGCTGTTCCTCCTCGCGGAATTTTCTGTCGCGCTCCTGGCG | - | OCCC_33 | p.RQERDRKFREEEQLRQEREEQQLR1766del |
HRNR | 1 | 152192096 | 152192096 | + | Frame_Shift_Ins | - | TGGAA | OCCC_33 | p.G670fs |
FLG | 1 | 152276467 | 152276467 | + | In_Frame_Ins | - | GGA | OCCC_33 | p.3631_3632insL |
OBSCN | 1 | 228521376 | 228521376 | + | Frame_Shift_Ins | - | CCCTGGAGATCATCTCCGTCACCCGGGAGGACTCTGGCCAGAGTCCT | OCCC_33 | p.T5317fs |
CELSR3 | 3 | 48681045 | 48681060 | + | Frame_Shift_Del | GCCAGGAGCCCAAAGA | - | OCCC_33 | p.LFGLLA2739fs |
CELSR3 | 3 | 48685368 | 48685369 | + | Frame_Shift_Del | GC | - | OCCC_33 | p.R2345fs |
DSPP | 4 | 88535504 | 88535518 | + | In_Frame_Del | AGTGACAGCAGTGAC | - | OCCC_33 | p.SDSSD569del |
PLEC | 8 | 144997814 | 144997843 | + | In_Frame_Del | CCTCCGCCTCCTCAGCCGCCCGCCGGGCCG | - | OCCC_33 | p.AARRAAEEAE2222del |
KRT10 | 17 | 38978482 | 38978496 | + | In_Frame_Del | CCACCAAAGCTGCCC | - | OCCC_33 | p.114_119GGSFGG>G |
EVPL | 17 | 74005040 | 74005080 | + | Frame_Shift_Del | CGCCGGCCCGCAGCTGCTGCACCTCAAGCTCTAGCTGGCGC | - | OCCC_33 | p.RQLELEVQQLRAGV1403fs |
HELZ2 | 20 | 62195541 | 62195541 | + | In_Frame_Ins | - | ACTCGCTGCCCACCAGGAACTCAGCGAGTGCACGCGGAGTTCCTGGTGGGCAGCGAGTGCACGCGG | OCCC_33 | p.1544_1545insSACTRCPPGTPRALAEFLVGSE |
ARID1A | 1 | 27087533 | 27087533 | + | Frame_Shift_Del | C | - | OCCC_06 | p.P703fs |
TCHH | 1 | 152080564 | 152080564 | + | In_Frame_Ins | - | GGAATTTTCTCTCTCGTTCCTGACGGCGGAGCTGCTGTTCCTCTTCGC | OCCC_06 | p.1709_1710insREEEQQLRRQERERKF |
DSPP | 4 | 88536046 | 88536046 | + | In_Frame_Ins | - | GATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGC | OCCC_06 | p.745_745D>EIAVTAATAVTVA |
PLEC | 8 | 144997640 | 144997696 | + | In_Frame_Del | CCGCCTGTGCCCGCCGCGCCGCCTCTTGCTCGGCCTCCTTGCGCAGCTTCTCTGCAG | - | OCCC_06 | p.AAEKLRKEAEQEAARRAQA2271del |
MUC19 | 12 | 40877181 | 40877181 | + | In_Frame_Ins | - | AACTAGACCATCAGCTGGGGTAACAGGGACAACAGGACTATCAGCTGAAGTGACAGAGAT | OCCC_06 | p.2909_2909T>KLDHQLG*QGQQDYQLK*QRS |
MUC19 | 12 | 40878586 | 40878586 | + | In_Frame_Ins | - | ACTGGACTATCAGCTGAGGTGACAGGGACA | OCCC_06 | p.3378_3379insLDYQLR*QGH |
KRT1 | 12 | 53073844 | 53073844 | + | In_Frame_Ins | - | ACCACCATAACCACCACCAAAGCCACT | OCCC_06 | p.96_97insSGFGGGYGG |
ARID1A | 1 | 27087544 | 27087544 | + | Frame_Shift_Ins | - | A | OCCC_59 | p.A707fs |
SPTA1 | 1 | 158617450 | 158617450 | + | In_Frame_Ins | - | CTCAGTGGCATCTGGATGGGACTCACTGAGCCG | OCCC_59 | p.1258_1259insRLSESHPDATE |
NEURL1B | 5 | 172110551 | 172110551 | + | Frame_Shift_Ins | - | CCAGCTTGGCCACCACCTGGTTGTT | OCCC_59 | p.-236fs |
DSP | 6 | 7576632 | 7576633 | + | Frame_Shift_Del | AG | - | OCCC_59 | p.E913fs |
PLEC | 8 | 144999765 | 144999765 | + | Frame_Shift_Ins | - | ATCGAGGAGGAGA | OCCC_59 | p.E1581fs |
XPO6 | 16 | 28167475 | 28167475 | + | Frame_Shift_Ins | - | ACCAAGGATAACAA | OCCC_59 | p.Q339fs |
ARID1A | 1 | 27100182 | 27100187 | + | In_Frame_Del | GCAGCA | - | OCCC_44 | p.QQ1333del |
ARID1A | 1 | 27101132 | 27101132 | + | Frame_Shift_Del | G | - | OCCC_44 | p.A1472fs |
OBSCN | 1 | 228403319 | 228403319 | + | Frame_Shift_Ins | - | GAGGTCACTTTCTCCGTGGACCTCCCGCTGAGGCCACCGTGAGGTCCACCGT | OCCC_44 | p.-629fs |
OBSCN | 1 | 228404312 | 228404312 | + | Frame_Shift_Ins | - | CTCCTTGTGCGAGATGTGTCCCGGGCCACAT | OCCC_44 | p.-763fs |
OBSCN | 1 | 228505627 | 228505627 | + | Frame_Shift_Ins | - | GCCCCTGAGAGCCGGCAGGTGGCAGCTGGTGACATCTTCACCAGCT | OCCC_44 | p.A4629fs |
SHROOM3 | 4 | 77675891 | 77675891 | + | Frame_Shift_Ins | - | GGGTCTCGCTGCCTCAGTGGCCACCTCCTTCTCGAGCAAAGTGGGT | OCCC_44 | p.R1419fs |
MUC17 | 7 | 100678734 | 100678735 | + | Frame_Shift_Del | CC | - | OCCC_44 | p.T1347fs |
SPTBN2 | 11 | 66463844 | 66463844 | + | Frame_Shift_Ins | - | GCACAGCAGCTCTGAGCTGTTTGCCCAGAGCTGCTGTGCCCTGGAGA | OCCC_44 | p.-1394fs |
PPP2R1A | 19 | 52719102 | 52719102 | + | Frame_Shift_Ins | - | CTGTGAGGCCGAGGTGAGGGCCGCAGCCTCCCACAAGGAGG | OCCC_44 | p.D293fs |
DSPP | 4 | 88535833 | 88535850 | + | In_Frame_Del | TAGCAGTGACAGCAGCAG | - | OCCC_15 | p.SSDSSS674del |
DMRTB1 | 1 | 53925474 | 53925474 | + | Frame_Shift_Ins | - | CTCG | OCCC_49 | p.-117fs |
DSPP | 4 | 88536774 | 88536818 | + | In_Frame_Del | ACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGTGATAGCAGCA | - | OCCC_49 | p.SSDSSDSSDSSDSSN1003del |
UNC13B | 9 | 35397682 | 35397682 | + | Frame_Shift_Ins | - | CCAGCCTATTGCACAAAGGAGAAACTGGTAGGTTCAGGCCCTGGGACTA | OCCC_49 | p.-1161fs |
AHNAK | 11 | 62290020 | 62290020 | + | In_Frame_Ins | - | CAGGTTCACATCCACTTCTGGACCTTCTCCTTAAGTGGATGTGAACCTGCCCAAGGCTGACCTTGACGT | OCCC_49 | p.3956_3957insTSRSALGRFTST*GEGPEVDVNL |
LAMA5 | 20 | 60922041 | 60922052 | + | In_Frame_Del | CGCAGGTGCCCC | - | OCCC_49 | p.GGTC330del |
ARID1A | 1 | 27105726 | 27105726 | + | Frame_Shift_Del | G | - | OCCC_39 | p.E1780fs |
SPTA1 | 1 | 158654960 | 158654960 | + | In_Frame_Ins | - | CTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGCTTGAGGATTCCTATCACTTACAAGTTTT | OCCC_39 | p.67_68insKTCK**ESSSYHLQVFKRDADDLGK |
RPTN | 1 | 152127835 | 152127835 | + | In_Frame_Ins | - | CTCTGGCCTTGTCTGTCTGTCTGACCATAATGATAG | OCCC_62 | p.580_580S>SYHYGQTDRQGQS |
DSPP | 4 | 88535772 | 88535772 | + | In_Frame_Ins | - | CAGTGATAGCAGCGACAGCAGCAATAGCAGTAACAGCAGTGATAGTAGTGACAG | OCCC_62 | p.653_653N>TVIAATAAIAVTAVIVVTD |
ANK3 | 10 | 61828704 | 61828706 | + | In_Frame_Del | TGG | - | OCCC_62 | p.T3978del |
ANK3 | 10 | 61829748 | 61829748 | + | Frame_Shift_Ins | - | TTGGAGCCTCTCTTCAACAAAATCCCTCTTG | OCCC_62 | p.F3631fs |
MINK1 | 17 | 4795793 | 4795793 | + | Frame_Shift_Ins | - | CCCAACGCCTCTAGGTAATAGAGTTGTCC | OCCC_62 | p.-729fs |
EVPL | 17 | 74005156 | 74005170 | + | In_Frame_Del | ACCACCACCTCCTGC | - | OCCC_62 | p.1372_1377VQEVVV>V |
MUC4 | 3 | 195513398 | 195513398 | + | In_Frame_Ins | - | GGTGACAGGAAGAGGGGTGGCGTGAGCTGTGGATGCTGAGGAAGTGCT | OCCC_31 | p.1684_1685insSTSSASTAHATPLPVT |
DSPP | 4 | 88534443 | 88534444 | + | Frame_Shift_Del | GG | - | OCCC_31 | p.G369fs |
DST | 6 | 56434706 | 56434706 | + | Frame_Shift_Ins | - | CAATGGGAACTTTTTTTGTTGTTTCTTTTATCCATGACTT | OCCC_31 | p.V4398fs |
KRT5 | 12 | 52908978 | 52908983 | + | In_Frame_Del | GCCACT | - | OCCC_31 | p.SG506del |
ARID1A | 1 | 27106336 | 27106337 | + | Frame_Shift_Del | TG | - | OCCC_11 | p.C1983fs |
FLG2 | 1 | 152326379 | 152326379 | + | Frame_Shift_Ins | - | TGTGTGAATGTGTTCTGAATGTC | OCCC_11 | p.Q1295fs |
OBSCN | 1 | 228528930 | 228528930 | + | Frame_Shift_Ins | - | TACGTGTTCCGGAACATGATGAAGGTCTGCAGGCTCTGGAACACGTAGCTGACGG | OCCC_11 | p.-5945fs |
MUC4 | 3 | 195475790 | 195475791 | + | Frame_Shift_Del | GG | - | OCCC_11 | p.P1103fs |
SHROOM3 | 4 | 77476849 | 77476849 | + | In_Frame_Ins | - | GCTCCAGAAAGGAGGCAGTTTCCCTGGGTCTTGTAGGATCCTTTCACCAGGGAAACT | OCCC_11 | p.85_86insAPERRQFPWVL*DPFTRET |
DST | 6 | 56496075 | 56496075 | + | Frame_Shift_Del | G | - | OCCC_11 | p.S1148fs |
AHNAK | 11 | 62293469 | 62293469 | + | Frame_Shift_Ins | - | GACATTCAACATCCACTTTCGGTCCTGAGACATCAATGTCAGCCTTGAACCTGCCCAAGGCT | OCCC_11 | p.P2807fs |
MUC19 | 12 | 40852569 | 40852569 | + | In_Frame_Ins | - | AGGTCAGTATATTAATTCCTGGTTTTACATGTTAAATAAAAACCAGGAATTAATATACTGACCTGTAGAAAA | OCCC_11 | p.1114_1115insKVSILIPGFTC*IKTRN*YTDL*K |
SPTB | 14 | 65270403 | 65270403 | + | Frame_Shift_Ins | - | ACATTGTAGA | OCCC_11 | p.-132fs |
AHNAK2 | 14 | 105407516 | 105407517 | + | Frame_Shift_Del | GC | - | OCCC_11 | p.MQ4757fs |
MINK1 | 17 | 4800542 | 4800542 | + | Frame_Shift_Ins | - | CTTCATGACTCTGGGGGCAGCAGCCAAGTTTT | OCCC_11 | p.Y1320fs |
ERBB2 | 17 | 37866644 | 37866644 | + | Frame_Shift_Ins | - | CAGTTGCTACCCCTCTGGATCTAACATGACTTTTTTTTTTTTTT | OCCC_11 | p.L271fs |
ARID1A | 1 | 27101161 | 27101161 | + | Frame_Shift_Del | G | - | OCCC_07 | p.M1481fs |
TCHH | 1 | 152084549 | 152084549 | + | In_Frame_Ins | - | CTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTC | OCCC_07 | p.381_382insEEERREQQLRREQ |
DSPP | 4 | 88536521 | 88536526 | + | In_Frame_Del | AGTGAC | - | OCCC_07 | p.SD903del |
ARID1A | 1 | 27106630 | 27106630 | + | Frame_Shift_Ins | - | G | OCCC_20 | p.C2081fs |
TCHH | 1 | 152084210 | 152084210 | + | In_Frame_Ins | - | CTGCTGCTCGCGCCT | OCCC_20 | p.494_495insRREQQ |
FLG2 | 1 | 152326888 | 152326926 | + | In_Frame_Del | GACTGACCTGAGCCCGATCCATATTGGCCAAAGCCAGAG | - | OCCC_20 | p.1112_1125SSGFGQYGSGSGQS>S |
FLG2 | 1 | 152331310 | 152331313 | + | Frame_Shift_Del | TTTG | - | OCCC_20 | p.YK16fs |
OBSCN | 1 | 228479814 | 228479814 | + | Frame_Shift_Ins | - | TG | OCCC_20 | p.L3519fs |
CTNNB1 | 3 | 41280738 | 41280776 | + | In_Frame_Del | GATGGGCTGCCAGATCTGGGGCATGCCCAGGACCTCATG | - | OCCC_20 | p.DGLPDLGHAQDLM751del |
SHROOM3 | 4 | 77677692 | 77677698 | + | Frame_Shift_Del | ACTCCAA | - | OCCC_20 | p.RLQ1600fs |
PLEC | 8 | 144999805 | 144999805 | + | In_Frame_Ins | - | CCTCCGAGCTCTGCCGCAGCTGCTGCAGCT | OCCC_20 | p.1567_1568insELQQLRQSSE |
MUC19 | 12 | 40877380 | 40877409 | + | In_Frame_Del | AGTGACAGGGACAACTGGACTGTCAACTGA | - | OCCC_20 | p.VTGTTGLSTE2976del |
MUC19 | 12 | 40877680 | 40877709 | + | In_Frame_Del | GACAGGGACAACTGGAATATTAGCCGGGGT | - | OCCC_20 | p.TGTTGILAGV3076del |
MUC19 | 12 | 40877853 | 40877882 | + | In_Frame_Del | CTGGAGTGACGGGGACAACTGGACTATCAC | - | OCCC_20 | p.GVTGTTGLSP3134del |
MUC19 | 12 | 40878604 | 40878633 | + | In_Frame_Del | GGTGACAGGGACAACTGGACTATCAGTTGG | - | OCCC_20 | p.VTGTTGLSVG3384del |
AHNAK2 | 14 | 105411949 | 105411949 | + | Frame_Shift_Ins | - | A | OCCC_20 | p.A3280fs |
MINK1 | 17 | 4792947 | 4793018 | + | In_Frame_Del | GCGGCGGGAGCGGGAGCAGCGGAAGCTGCAGGAGAAGGAGCAGCAGCGGCGGCTGGAGGACATGCAGGCTCT | - | OCCC_20 | p.RREREQRKLQEKEQQRRLEDMQAL413del |
KRT10 | 17 | 38975137 | 38975137 | + | In_Frame_Ins | - | CCGCCGCCGTAT | OCCC_20 | p.550_550G>GYGGG |
RPTN | 1 | 152128355 | 152128390 | + | In_Frame_Del | TCTGTCTGACCATAGTGAGAACTTTGGTCTTGTCTG | - | OCCC_14 | p.DRQDQSSHYGQT395del |
DSPP | 4 | 88535459 | 88535509 | + | In_Frame_Del | AGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGATAGTAGTGAC | - | OCCC_14 | p.SSDSDSSDSSNSSDSSD549del |
DSPP | 4 | 88536515 | 88536520 | + | In_Frame_Del | AGTGAT | - | OCCC_14 | p.SD903del |
UNC13B | 9 | 35310668 | 35310668 | + | In_Frame_Ins | - | GCAGAGAAGGAGGCAGCATGTGAACCCAAGGAGATGAAAGCT | OCCC_14 | p.323_324insQRRRQHVNPRR*KL |
TCHH | 1 | 152084406 | 152084477 | + | In_Frame_Del | CTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTG | - | OCCC_43 | p.QLRREQQLRREQQLRREQQLRREQ406del |
SPTA1 | 1 | 158639269 | 158639270 | + | Frame_Shift_Del | AC | - | OCCC_43 | p.Y588fs |
OBSCN | 1 | 228505740 | 228505740 | + | Frame_Shift_Ins | - | TGGGAATGGAGCGCATCCAGCCCGT | OCCC_43 | p.G4666fs |
CELSR3 | 3 | 48694195 | 48694196 | + | Frame_Shift_Del | GC | - | OCCC_43 | p.R1445fs |
DSP | 6 | 7581743 | 7581743 | + | Frame_Shift_Ins | - | AG | OCCC_43 | p.Q1774fs |
PLEC | 8 | 144998456 | 144998488 | + | In_Frame_Del | CCAGCCGCCGCCGCTGGAAGGCCTCGTCCTCCG | - | OCCC_43 | p.AEDEAFQRRRL2007del |
PLEC | 8 | 145003857 | 145003857 | + | In_Frame_Ins | - | GAGCCGTACTCGCGCTCAGCCATCAGCCGGTCCTCGGCT | OCCC_43 | p.1097_1097S>SAEDRLMAEREYGS |
UNC13B | 9 | 35375191 | 35375191 | + | Frame_Shift_Del | A | - | OCCC_43 | p.E455fs |
AHNAK | 11 | 62291447 | 62291461 | + | In_Frame_Del | TTGGGCATTTTCATC | - | OCCC_43 | p.3476_3481KMKMPK>K |
AHNAK2 | 14 | 105408570 | 105408571 | + | Frame_Shift_Del | GG | - | OCCC_43 | p.P4406fs |
EVPL | 17 | 74023206 | 74023232 | + | In_Frame_Del | TTGGGGGACCCCTTGGCGGGGGAGCCC | - | OCCC_43 | p.16_25KGSPAKGSPK>K |
HELZ2 | 20 | 62196712 | 62196712 | + | Frame_Shift_Ins | - | GGGGCCCGAGGAGGCATCGTCCAGCGGGATGGCTGACGCCTCCTCGGGCCCCATCCAGGTCA | OCCC_43 | p.I1155fs |
HELZ2 | 20 | 62196752 | 62196752 | + | Frame_Shift_Ins | - | TCCT | OCCC_43 | p.-1141fs |
MAGEE1 | X | 75649528 | 75649528 | + | In_Frame_Ins | - | CTCCGTGCTGCCTAACCCTGGTGAGGGCCCTCAATGTGCTCGGGCCCT | OCCC_43 | p.402_402S>TPCCLTLVRALNVLGPC |
TCHH | 1 | 152080254 | 152080325 | + | In_Frame_Del | GCGCAGCTGCTGTTCTTCCCTCTCCTGGCGTAGCTGTTCCTCCTCGCGGAATTTTCTGTCAGACTCTTGGCT | - | OCCC_46 | p.SQESDRKFREEEQLRQEREEQQLR1790del |
TCHH | 1 | 152082863 | 152082883 | + | In_Frame_Del | GCAGCTGCTCTTCCTCCTGCT | - | OCCC_46 | p.QQEEEQL937del |
HRNR | 1 | 152191328 | 152191366 | + | In_Frame_Del | GAGCCAGACCCATGTCGGCCACTGCTGGAAGACCGACCG | - | OCCC_46 | p.913_926SGRSSSSGRHGSGS>S |
FLG2 | 1 | 152326621 | 152326659 | + | In_Frame_Del | TGACCTGAGCCTGAACCATATTGGCCAAATCCAGTGGAC | - | OCCC_46 | p.1201_1214QSTGFGQYGSGSGQ>Q |
FLG2 | 1 | 152327758 | 152327796 | + | In_Frame_Del | TGTCCAAAGCCAGAGGATTGTCCTGAGCCAGACCCATGT | - | OCCC_46 | p.822_835QHGSGSGQSSGFGQ>Q |
FLG2 | 1 | 152327846 | 152327848 | + | In_Frame_Del | CAG | - | OCCC_46 | p.805_806TG>S |
PIK3CA | 3 | 178922313 | 178922315 | + | In_Frame_Del | ACC | - | OCCC_46 | p.H362del |
MUC4 | 3 | 195538627 | 195538638 | + | In_Frame_Del | AGGCAGAGACAC | - | OCCC_46 | p.17_21LCLCL>L |
DST | 6 | 56357771 | 56357781 | + | Frame_Shift_Del | GAGACTTGGCC | - | OCCC_46 | p.RPSL6514fs |
AHNAK | 11 | 62289760 | 62289760 | + | In_Frame_Ins | - | TCCACTTTGGGGCCCTTGATGTCAACTTCAGGGGCCTTTAGATCACCT | OCCC_46 | p.4042_4043insEGDLKAPEVDIKGPKV |
MUC19 | 12 | 40877680 | 40877709 | + | In_Frame_Del | GACAGGGACAACTGGAATATTAGCCGGGGT | - | OCCC_46 | p.TGTTGILAGV3076del |
KRT5 | 12 | 52908926 | 52908949 | + | In_Frame_Del | CAAGACCTCCACCGAGGCCGCCGC | - | OCCC_46 | p.GGGLGGGL517del |
SPTB | 14 | 65216761 | 65216796 | + | In_Frame_Del | CAGGGCCAGGGGTTCCTCCCCATGGTAGGGCATCCC | - | OCCC_46 | p.GMPYHGEEPLAL2227del |
WWP2 | 16 | 69874149 | 69874149 | + | In_Frame_Ins | - | CAGTGCCCTGACAGATGGTGAGTGCCGCCCTGCTCCTCAGTCCTGAGGAGCAGGGCGGCACTCACCATCTGT | OCCC_46 | p.154_154G>AVP*QMVSAALLLSPEEQGGTHHLC |
ERBB2 | 17 | 37884039 | 37884040 | + | Frame_Shift_Del | CA | - | OCCC_46 | p.K1171fs |
LAMA5 | 20 | 60898688 | 60898689 | + | Frame_Shift_Del | CC | - | OCCC_46 | p.G1963fs |
LAMA5 | 20 | 60902992 | 60902995 | + | Frame_Shift_Del | GGGC | - | OCCC_46 | p.RP1575fs |
MAGEE1 | X | 75649234 | 75649341 | + | In_Frame_Del | TGAGCACCTCCGTGCAGCCCACTGCTGGTGAGGGATCGAGCACCTCCGTGCCGCCCACCCCTGGTGGGGGACTGAGCACCTCCGTGCCGCCCACCGCCACTGAGGAGT | - | OCCC_46 | p.304_340LSTSVQPTAGEGSSTSVPPTPGGGLSTSVPPTATEEL>L |
TCHH | 1 | 152084549 | 152084549 | + | In_Frame_Ins | - | CTGCTCGCGCCTCTCCTCCTC | OCCC_21 | p.381_382insEEERREQ |
OBSCN | 1 | 228560130 | 228560171 | + | In_Frame_Del | GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA | - | OCCC_21 | p.SQSEEEEQEEARAE7218del |
EVPL | 17 | 74004871 | 74004871 | + | Frame_Shift_Ins | - | GGTCCTTCTCCAGCTTGACCACTTCCTCCATGATGATCTTCTCCCACGGTGCAGGAGAAGATCATCATGGAGGAAGT | OCCC_21 | p.P1472fs |
ARID1A | 1 | 27106589 | 27106589 | + | Frame_Shift_Ins | - | C | OCCC_53 | p.I2067fs |
TCHH | 1 | 152080606 | 152080606 | + | In_Frame_Ins | - | CCC | OCCC_53 | p.1695_1696insG |
TCHH | 1 | 152084176 | 152084193 | + | In_Frame_Del | TGCTGCTCGCGCCTCTCC | - | OCCC_53 | p.500_506QERREQQ>Q |
HRNR | 1 | 152188530 | 152188530 | + | In_Frame_Ins | - | GCG | OCCC_53 | p.1858_1859insR |
FLG2 | 1 | 152328664 | 152328702 | + | In_Frame_Del | TGTCCAAAACCAGAGGATTGTCCTGAGACAGACCCATGC | - | OCCC_53 | p.520_533QHGSVSGQSSGFGQ>Q |
OBSCN | 1 | 228444399 | 228444443 | + | In_Frame_Del | CAGGCCCAGGCGGGGGCCAGCACCACACTCAGCTGCGAGGTGGCT | - | OCCC_53 | p.QAQAGASTTLSCEVA1453del |
OBSCN | 1 | 228562291 | 228562291 | + | Frame_Shift_Ins | - | C | OCCC_53 | p.A7501fs |
DSP | 6 | 7542183 | 7542183 | + | Frame_Shift_Ins | - | CACTCTGGGCCGCATGATCCGCGCCGAGTCTGGCCCGGAT | OCCC_53 | p.N12fs |
ANK3 | 10 | 62023687 | 62023687 | + | Frame_Shift_Ins | - | GCACTTTTCCTTTGGTGTCATTCAAAGGAAAAGTGCGTCTCCCA | OCCC_53 | p.R202fs |
AHNAK | 11 | 62293578 | 62293578 | + | Frame_Shift_Del | T | - | OCCC_53 | p.M2771fs |
MUC19 | 12 | 40876788 | 40876817 | + | In_Frame_Del | GGACAACTGGACTATCACCTGGAGTGACAA | - | OCCC_53 | p.TTGLSPGVTR2779del |
MUC19 | 12 | 40877680 | 40877709 | + | In_Frame_Del | GACAGGGACAACTGGAATATTAGCCGGGGT | - | OCCC_53 | p.TGTTGILAGV3076del |
MUC19 | 12 | 40878635 | 40878664 | + | In_Frame_Del | GTGACAGGGATAGCTGGACTCTCAGCTGGC | - | OCCC_53 | p.VTGIAGLSAG3394del |
AHNAK2 | 14 | 105411019 | 105411019 | + | Frame_Shift_Del | G | - | OCCC_53 | p.A3590fs |
MINK1 | 17 | 4789807 | 4789848 | + | In_Frame_Del | CCCACGGAGCAGCTACTGAAGTTTCCCTTCATCCGGGACCAG | - | OCCC_53 | p.PTEQLLKFPFIRDQ279del |
EVPL | 17 | 74023206 | 74023232 | + | In_Frame_Del | TTGGGGGACCCCTTGGCGGGGGAGCCC | - | OCCC_53 | p.16_25KGSPAKGSPK>K |
LAMA5 | 20 | 60897166 | 60897166 | + | Frame_Shift_Ins | - | G | OCCC_53 | p.P2135fs |
ARID1A | 1 | 27023116 | 27023116 | + | Frame_Shift_Del | G | - | OCCC_26 | p.Q74fs |
HRNR | 1 | 152192595 | 152192595 | + | Frame_Shift_Ins | - | CCTAGATGACTGAACAAACCTGAGCTAGATCCGTGTTGTTCACT | OCCC_26 | p.-503fs |
FLG2 | 1 | 152324722 | 152324722 | + | Frame_Shift_Ins | - | TAGTTCCATGTCTCTCGTCAACTATGGATTCTGACTCTCCAGGCTGGATCTCAACATGGAGAGTCAGAATCCA | OCCC_26 | p.T1847fs |
DSPP | 4 | 88536737 | 88536772 | + | In_Frame_Del | GACAGCAGTGACAGCAGCAACAGCAGCGATAGCAGT | - | OCCC_26 | p.DSSDSSNSSDSS975del |
CDK12 | 17 | 37627658 | 37627711 | + | In_Frame_Del | ACCCCTCCACCTCTTCCCACAATTGCTTCTCCCCCACCCCCTCTACCAACTACT | - | OCCC_26 | p.TPPPLPTIASPPPPLPTT525del |
HELZ2 | 20 | 62196806 | 62196806 | + | In_Frame_Ins | - | CGCAGCAGC | OCCC_26 | p.1123_1123H>QLLR |
HRNR | 1 | 152193038 | 152193076 | + | In_Frame_Del | CCTGAGCCAGACTCATGTTGCCCAAAGCCAGAAGTCTGG | - | OCCC_27 | p.343_356GQTSGFGQHESGSG>G |
CELSR3 | 3 | 48693701 | 48693701 | + | Frame_Shift_Ins | - | GCGGCGCCTT | OCCC_27 | p.R1499fs |
MAPK8IP2 | 22 | 51042892 | 51042892 | + | Frame_Shift_Ins | - | ACAC | OCCC_27 | p.G123fs |
MAGEE1 | X | 75648768 | 75648803 | + | In_Frame_Del | AGCACCTCCGTGCCGCCCACCGCCTCTGAGGTACCG | - | OCCC_27 | p.STSVPPTASEVP149del |
MSH3 | 5 | 79950724 | 79950724 | + | In_Frame_Ins | - | CAGCGC | OCCC_05 | p.59_60insQR |
AHNAK | 11 | 62300860 | 62300860 | + | Frame_Shift_Ins | - | ACTAT | OCCC_05 | p.-343fs |
AHNAK | 11 | 62300862 | 62300862 | + | Frame_Shift_Ins | - | AA | OCCC_05 | p.G343fs |
MAPK8IP2 | 22 | 51042919 | 51042937 | + | Frame_Shift_Del | GAGGCGGCCGCGGGGCCCG | - | OCCC_05 | p.EAAAGPG132fs |
TCHH | 1 | 152082863 | 152082883 | + | In_Frame_Del | GCAGCTGCTCTTCCTCCTGCT | - | OCCC_29 | p.QQEEEQL937del |
TCHH | 1 | 152083645 | 152083665 | + | In_Frame_Del | TGCTCGCGCCTCTCTTCCTCA | - | OCCC_29 | p.HEEERRE676del |
HRNR | 1 | 152190899 | 152190899 | + | Frame_Shift_Del | C | - | OCCC_29 | p.S1070fs |
SPTBN2 | 11 | 66463850 | 66463850 | + | Frame_Shift_Ins | - | CAGCTCTGGGCAAACAGCT | OCCC_29 | p.C1392fs |
WWP2 | 16 | 69965462 | 69965462 | + | In_Frame_Ins | - | ATC | OCCC_29 | p.525_525F>LS |
MINK1 | 17 | 4797305 | 4797337 | + | In_Frame_Del | GTCAGCACCATGGTGGTCCACGACGTCGAGGAG | - | OCCC_29 | p.VSTMVVHDVEE863del |
MINK1 | 17 | 4797342 | 4797368 | + | In_Frame_Del | CCGGGACCCAGCCCCCATACGGGGGCG | - | OCCC_29 | p.875_884TGTQPPYGGG>S |
EVPL | 17 | 74005040 | 74005080 | + | Frame_Shift_Del | CGCCGGCCCGCAGCTGCTGCACCTCAAGCTCTAGCTGGCGC | - | OCCC_29 | p.RQLELEVQQLRAGV1403fs |
EYA2 | 20 | 45717929 | 45717929 | + | In_Frame_Ins | - | CATCTCAAAAAAAAAAAAAAA | OCCC_29 | p.238_238T>TSQKKKKT |
TCHH | 1 | 152080546 | 152080593 | + | In_Frame_Del | AGCTGCTGTTCCTCCTGGAGGAATTTTCTCTCTCGTTCCTGACGGCGG | - | OCCC_64 | p.1700_1716LRRQERERKFLQEEQQL>L |
TCHH | 1 | 152082863 | 152082883 | + | In_Frame_Del | GCAGCTGCTCTTCCTCCTGCT | - | OCCC_64 | p.QQEEEQL937del |
TCHH | 1 | 152083757 | 152083795 | + | In_Frame_Del | GCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCA | - | OCCC_64 | p.LLKSEEQEERRQQ633del |
FLG2 | 1 | 152328434 | 152328472 | + | In_Frame_Del | CATGTTGTCCAAAGCCAGAGGATTGTCCTGAGCCAGACC | - | OCCC_64 | p.GSGSGQSSGFGQH597del |
AHNAK2 | 14 | 105408026 | 105408027 | + | Frame_Shift_Del | CC | - | OCCC_64 | p.E4588fs |
RPTN | 1 | 152127299 | 152127340 | + | In_Frame_Del | CTGTCTCGTCTCTGATGGCTCTGCTCATGTTCATGGGTTTGT | - | OCCC_60 | p.745_759RQTHEHEQSHQRRDR>R |
RPTN | 1 | 152129095 | 152129130 | + | In_Frame_Del | CTGACCATGGTGGGAATCTCTGTCTTGTCTCTCAGG | - | OCCC_60 | p.PERQDRDSHHGQ149del |
MSH3 | 5 | 79950700 | 79950717 | + | In_Frame_Del | GCAGCGGCTGCAGCGGCC | - | OCCC_60 | p.AAAAAA52del |
DST | 6 | 56485271 | 56485287 | + | Frame_Shift_Del | TATCTTCTGCAGAGAGA | - | OCCC_60 | p.ISLQKI1182fs |
AHNAK | 11 | 62298941 | 62298941 | + | Frame_Shift_Ins | - | CTCCAGGTGTGTGTGTGTG | OCCC_60 | p.S983fs |
KRT5 | 12 | 52908926 | 52908949 | + | In_Frame_Del | CAAGACCTCCACCGAGGCCGCCGC | - | OCCC_60 | p.GGGLGGGL517del |
CASKIN1 | 16 | 2239304 | 2239304 | + | In_Frame_Ins | - | CTAATTTTAATTTTT | OCCC_60 | p.140_141insKN*N* |
KRT10 | 17 | 38975103 | 38975103 | + | In_Frame_Ins | - | GCT | OCCC_60 | p.562_562S>SS |
PPP2R1A | 19 | 52724342 | 52724342 | + | Frame_Shift_Ins | - | ACCCCAACTACCTGCACCGCATGACT | OCCC_60 | p.D492fs |
FLG | 1 | 152281412 | 152281413 | + | Frame_Shift_Del | AC | - | OCCC_57 | p.ES1983fs |
LOR | 1 | 153233699 | 153233701 | + | In_Frame_Del | GGA | - | OCCC_57 | p.G95del |
SPTA1 | 1 | 158632528 | 158632528 | + | Frame_Shift_Ins | - | GATCCAGGCCTCCTCATCCTCTGTGTCTCTACAAATCAGAGGATGAGGAGGCCTGGATCCAAGAGACTGAACCCTCA | OCCC_57 | p.Q810fs |
MUC4 | 3 | 195507226 | 195507226 | + | Frame_Shift_Ins | - | CCTGTGGATACTGAGGAAG | OCCC_57 | p.V3742fs |
AHNAK | 11 | 62288844 | 62288844 | + | Frame_Shift_Ins | - | TG | OCCC_57 | p.G4349fs |
ERBB2 | 17 | 37881624 | 37881624 | + | Frame_Shift_Ins | - | AGAA | OCCC_57 | p.F899fs |
ARID1A | 1 | 27094341 | 27094341 | + | Frame_Shift_Ins | - | A | OCCC_13 | p.E1017fs |
TCHH | 1 | 152081378 | 152081378 | + | In_Frame_Ins | - | CTGCTGTTCCTCTTCACGGAATTTTCTGTCACGCTCTTGGCGGCTCAG | OCCC_13 | p.1438_1439insLSRQERDRKFREEEQQ |
TCHH | 1 | 152081530 | 152081530 | + | In_Frame_Ins | - | GTTCCTGGCGGCGCAGCCGCTGTTCCTCCTCGAGGAATTTTCTCCCTT | OCCC_13 | p.1387_1388insQGRKFLEEEQRLRRQE |
MUC4 | 3 | 195507241 | 195507241 | + | In_Frame_Ins | - | CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATA | OCCC_13 | p.3736_3737insVSTGHVTPLHVTSPSS |
MUC19 | 12 | 40877361 | 40877361 | + | In_Frame_Ins | - | AACTGGACTATCAGCTGGAGTGACAGGGACAACTGGACTGTCAACTGAAGTGACAGGGAC | OCCC_13 | p.2969_2969I>KLDYQLE*QGQLDCQLK*QGL |
MUC19 | 12 | 40878531 | 40878531 | + | In_Frame_Ins | - | TGGACTATCAGCTGGAGTGACAGGGACAAA | OCCC_13 | p.3358_3359insMDYQLE*QGQ |
XPO6 | 16 | 28118877 | 28118877 | + | Frame_Shift_Ins | - | CTTCGGGTGGGGTGGTGTGTGTGTGTGTGTGTGT | OCCC_13 | p.-821fs |
ARID1A | 1 | 27107135 | 27107136 | + | Frame_Shift_Del | CA | - | OCCC_56 | p.S2249fs |
HRNR | 1 | 152185812 | 152185812 | + | Frame_Shift_Ins | - | AG | OCCC_56 | p.G2765fs |
MAPK8IP2 | 22 | 51042308 | 51042308 | + | In_Frame_Ins | - | GCGGGGCGCAGTCGCCAGTGCGCCCGGGTTGCGACT | OCCC_56 | p.193_194insAGRSRQCARVAT |
HRNR | 1 | 152187559 | 152187559 | + | In_Frame_Ins | - | CTAGGA | OCCC_09 | p.2182_2182S>SPS |
MUC4 | 3 | 195515915 | 195515915 | + | Frame_Shift_Ins | - | AT | OCCC_09 | p.E846fs |
TCHH | 1 | 152083803 | 152083844 | + | In_Frame_Del | GCGCCTCTCTTCCTCCGGCTCCTCGCGCTTCAGCCGCTGCTC | - | OCCC_36 | p.EQRLKREEPEEERR617del |
TCHH | 1 | 152083909 | 152083977 | + | In_Frame_Del | TCCTGCTCGCGCTTCAGCCGCTGCTGGCGCCTCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCC | - | OCCC_36 | p.572_595EERRDQLLKREEERRQQRLKREQE>E |
RPTN | 1 | 152127241 | 152127282 | + | In_Frame_Del | GTCTTCATGGGTTTGCCTGTCTCGTCTCTGACGGTTCTGCTT | - | OCCC_36 | p.KQNRQRRDRQTHED765del |
OBSCN | 1 | 228444409 | 228444453 | + | In_Frame_Del | CGGGGGCCAGCACCACACTCAGCTGCGAGGTGGCTCAGGCCCAGA | - | OCCC_36 | p.GASTTLSCEVAQAQT1457del |
CELSR3 | 3 | 48677161 | 48677206 | + | Frame_Shift_Del | GAGGGCCCAAGCACAGAGGCTGTGGCAGAAGGTGTGGCAGTGGTGT | - | OCCC_36 | p.HTTATPSATASVLGPS3271fs |
SHROOM3 | 4 | 77675655 | 77675655 | + | Frame_Shift_Ins | - | AGGGCTGGTCACAGACACC | OCCC_36 | p.-1340fs |
DSPP | 4 | 88536230 | 88536238 | + | In_Frame_Del | AGCAGTGAT | - | OCCC_36 | p.SSD815del |
DST | 6 | 56510688 | 56510688 | + | Frame_Shift_Ins | - | TC | OCCC_36 | p.K374fs |
DST | 6 | 56765382 | 56765382 | + | In_Frame_Ins | - | CTCGTCTTCTAAGATGCCGAGGGCTTGCTCAGGGATTCAGAGCAAGCC | OCCC_36 | p.84_85insGLALNP*ASPRHLRRR |
PTPRN2 | 7 | 157449106 | 157449159 | + | In_Frame_Del | GGATGAGGCGCTGCTGCGTGCGGAGGGGCTGGGGATCGGCCCGTCGCTGAACTG | - | OCCC_36 | p.QFSDGPIPSPSARSSASS696del |
KRTAP5-2 | 11 | 1619347 | 1619388 | + | In_Frame_Del | CAGCCCCCACAGCCAGAGCCACAGCCCCCACGGCCGGAGCCA | - | OCCC_36 | p.31_45CGSGRGGCGSGCGGC>C |
MAGEE1 | X | 75648505 | 75648540 | + | In_Frame_Del | CTGAGGGCCCAAGCACCTCCGTTCTGCCCACCTCCG | - | OCCC_36 | p.EGPSTSVLPTSA62del |
ARID1A | 1 | 27106335 | 27106335 | + | Frame_Shift_Ins | - | TG | OCCC_02 | p.C1983fs |
RPTN | 1 | 152129036 | 152129107 | + | In_Frame_Del | GAATCTCTGTCTTGTCTCTCAGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGG | - | OCCC_02 | p.156_180SHHGQSEKQDRDSHHSQPERQDRDS>S |
KRTAP5-2 | 11 | 1619173 | 1619232 | + | In_Frame_Del | CCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGAG | - | OCCC_02 | p.83_103GSKGGCGSCGGSKGGCGSCGG>G |
KRT10 | 17 | 38975103 | 38975103 | + | In_Frame_Ins | - | GCTGCCGCCGCCGTATCCGCCGCCGCCGCT | OCCC_02 | p.562_562S>SGGGGYGGGSS |
HRNR | 1 | 152188893 | 152188893 | + | Frame_Shift_Ins | - | CC | OCCC_24 | p.S1738fs |
FLG2 | 1 | 152326334 | 152326334 | + | Frame_Shift_Ins | - | GTCA | OCCC_24 | p.R1310fs |
LOR | 1 | 153233702 | 153233776 | + | In_Frame_Del | GGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTCCAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGT | - | OCCC_24 | p.GGGSSGGGSGCFSSGGGGSGCFSSG93del |
DSPP | 4 | 88535567 | 88535626 | + | In_Frame_Del | AGTGACAGCAGTGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGACAGT | - | OCCC_24 | p.SDSSDSSDSDSSDSSNSSDS585del |
ARID1A | 1 | 27057730 | 27057792 | + | In_Frame_Del | CAGCAGCAGCCACCCTACTCCCAGCAACCACCGTCCCAGACCCCTCATGCCCAACCTTCGTAT | - | OCCC_28 | p.QQQPPYSQQPPSQTPHAQPSY480del |
OBSCN | 1 | 228560156 | 228560191 | + | In_Frame_Del | AGGAGGCCAGGGCTGAGTCCCAGTCGGAGGAGCAGC | - | OCCC_28 | p.EARAESQSEEQQ7227del |
DSPP | 4 | 88535624 | 88535659 | + | In_Frame_Del | AGTAGTGACAGCAGTGATAGCAGTGACAGTAGTGAT | - | OCCC_28 | p.SSDSSDSSDSSD604del |
DSP | 6 | 7580657 | 7580657 | + | Frame_Shift_Ins | - | A | OCCC_28 | p.L1412fs |
SPTBN4 | 19 | 41078059 | 41078060 | + | Frame_Shift_Del | CT | - | OCCC_28 | p.A2485fs |
OBSCN | 1 | 228528946 | 228528946 | + | In_Frame_Ins | - | CGTAGC | OCCC_65 | p.5949_5950insRS |
DSPP | 4 | 88536488 | 88536520 | + | In_Frame_Del | AGTGACAGCAGTGATAGCAGCAACAGCAGTGAT | - | OCCC_65 | p.SDSSDSSNSSD903del |
ARID1A | 1 | 27094400 | 27094400 | + | Frame_Shift_Del | G | - | OCCC_10 | p.M1036fs |
TCHH | 1 | 152080326 | 152080397 | + | In_Frame_Del | GCGCAGCTGCTGTTCCTCCCTCTCCTGGCGGAGCTGTTCCTCCTCGCGGAATTTTCTGTCGCGCTCCTGGCG | - | OCCC_10 | p.RQERDRKFREEEQLRQEREEQQLR1766del |
TCHH | 1 | 152081350 | 152081350 | + | Frame_Shift_Ins | - | GCGTC | OCCC_10 | p.F1448fs |
SPTBN4 | 19 | 40998889 | 40998889 | + | Frame_Shift_Ins | - | GACTGAGGACAACAGAGAGACACGCTCAGCCAAGGATGCAGAGCATCCTT | OCCC_10 | p.E172fs |
ARID1A | 1 | 27087894 | 27087897 | + | Frame_Shift_Del | GCCA | - | OCCC_58 | p.RP727fs |
ARID1A | 1 | 27107135 | 27107135 | + | Frame_Shift_Ins | - | A | OCCC_58 | p.S2249fs |
TCHH | 1 | 152080594 | 152080641 | + | In_Frame_Del | AGCTGCTGTTCCTCTTCGCGGAATTTTCTGTCACGCTCTTGGCGGCGC | - | OCCC_58 | p.1684_1700LRRQERDRKFREEEQQL>L |
FLG2 | 1 | 152328527 | 152328529 | + | In_Frame_Del | CAG | - | OCCC_58 | p.578_579TG>S |
OBSCN | 1 | 228560130 | 228560171 | + | In_Frame_Del | GTCCCAGTCAGAGGAGGAGGAGCAGGAGGAGGCCAGGGCTGA | - | OCCC_58 | p.SQSEEEEQEEARAE7218del |
SHROOM3 | 4 | 77676310 | 77676310 | + | Frame_Shift_Ins | - | GGAAGTCATCCATGCTATACAACGGGGTTTC | OCCC_58 | p.-1559fs |
DSPP | 4 | 88535624 | 88535659 | + | In_Frame_Del | AGTAGTGACAGCAGTGATAGCAGTGACAGTAGTGAT | - | OCCC_58 | p.SSDSSDSSDSSD604del |
DSPP | 4 | 88536635 | 88536652 | + | In_Frame_Del | AGCAGTGACAGCAGTGAT | - | OCCC_58 | p.SSDSSD941del |
AHNAK | 11 | 62291344 | 62291364 | + | In_Frame_Del | TGGGCCCTCAATGTTCATACT | - | OCCC_58 | p.SMNIEGP3509del |
AHNAK | 11 | 62291447 | 62291461 | + | In_Frame_Del | TTGGGCATTTTCATC | - | OCCC_58 | p.3476_3481KMKMPK>K |
AHNAK | 11 | 62297524 | 62297524 | + | In_Frame_Ins | - | TCTGGTGTGGATATCTTCTGAGGCTTTATACTCATT | OCCC_58 | p.1454_1455insEMSIKPQKISTP |
AHNAK | 11 | 62299078 | 62299078 | + | Frame_Shift_Ins | - | GGCATCTTGAACTTGG | OCCC_58 | p.-937fs |
MUC19 | 12 | 40877967 | 40878026 | + | In_Frame_Del | TATCAGCTGGGGTGACAGGGACAACTGGATCACTAGCTGGAGGGACAGGGACAATTGGAC | - | OCCC_58 | p.SAGVTGTTGSLAGGTGTIGL3172del |
KRT1 | 12 | 53073970 | 53073970 | + | In_Frame_Ins | - | ACC | OCCC_58 | p.54_55insG |
MINK1 | 17 | 4793912 | 4793932 | + | In_Frame_Del | AACAGCAGCAGCAGCTTCAGA | - | OCCC_58 | p.QQQQLQK484del |
LAMA5 | 20 | 60903371 | 60903371 | + | Frame_Shift_Ins | - | TCACAGCCGACCAGGGGGTGGCAGCCAAAGGTCTGGGACTGCCTTCTGTGCCAGCCCCAGACCTT | OCCC_58 | p.-1526fs |
MAGEE1 | X | 75648522 | 75648522 | + | Frame_Shift_Ins | - | TTGTG | OCCC_58 | p.S67fs |
FLG | 1 | 152279728 | 152279728 | + | In_Frame_Ins | - | AAT | OCCC_54 | p.2545_2545G>D* |
FLG2 | 1 | 152323276 | 152323276 | + | Frame_Shift_Del | T | - | OCCC_54 | p.Q2329fs |
OBSCN | 1 | 228509582 | 228509583 | + | Frame_Shift_Del | CT | - | OCCC_54 | p.L5014fs |
OBSCN | 1 | 228509583 | 228509583 | + | In_Frame_Ins | - | AAG | OCCC_54 | p.5014_5014L>QV |
OBSCN | 1 | 228524709 | 228524709 | + | Frame_Shift_Ins | - | CCTCTGGCTGCCAAGGAGGCCTCCGAGGGCCT | OCCC_54 | p.-5515fs |
DSPP | 4 | 88535714 | 88535719 | + | In_Frame_Del | AGTGAT | - | OCCC_54 | p.SD636del |
AHNAK | 11 | 62291447 | 62291461 | + | In_Frame_Del | TTGGGCATTTTCATC | - | OCCC_54 | p.3476_3481KMKMPK>K |
MUC19 | 12 | 40876299 | 40876328 | + | In_Frame_Del | CAGTATCAGGGACAACTGTACAATCTCTTA | - | OCCC_54 | p.VSGTTVQSLT2616del |
MUC19 | 12 | 40879293 | 40879322 | + | In_Frame_Del | ACAGGGACAACTGGACTATCAGCTGGAGTC | - | OCCC_54 | p.RDNWTISWSH3614del |
AHNAK2 | 14 | 105411021 | 105411041 | + | In_Frame_Del | CTTGGGGCCTTTCAGGTCCAG | - | OCCC_54 | p.LDLKGPK3583del |
MINK1 | 17 | 4793920 | 4793934 | + | In_Frame_Del | CAGCAGCTTCAGAAA | - | OCCC_54 | p.QQLQK486del |
LAMA5 | 20 | 60892819 | 60892819 | + | Frame_Shift_Ins | - | CCACC | OCCC_54 | p.L2419fs |
HELZ2 | 20 | 62196229 | 62196229 | + | In_Frame_Ins | - | GGTGGCCTGGTCCGACGGGGGCACCCTCAAGCTGAG | OCCC_54 | p.1315_1316insLSLRVPPSDQAT |
HRNR | 1 | 152191626 | 152191626 | + | In_Frame_Ins | - | AGAGGA | OCCC_12 | p.826_827insSS |
ARID1A | 1 | 27057983 | 27057983 | + | Frame_Shift_Ins | - | AC | OCCC_40 | p.Q564fs |
DST | 6 | 56357778 | 56357778 | + | In_Frame_Ins | - | ACGAACACAAGGTATGTA | OCCC_40 | p.6515_6515P>LHTLCSS |
AHNAK | 11 | 62297907 | 62297907 | + | Frame_Shift_Ins | - | ATCAGGCATGGAGATCTTGGGGGCCTTGAAGTGCAAGATCTCCATGCCTGATGTGGACCTGA | OCCC_40 | p.V1328fs |
AHNAK | 11 | 62298807 | 62298807 | + | In_Frame_Ins | - | CACATTCGCTTTGGACAGGTT | OCCC_40 | p.1027_1028insNLSKANV |
MUC19 | 12 | 40877680 | 40877709 | + | In_Frame_Del | GACAGGGACAACTGGAATATTAGCCGGGGT | - | OCCC_40 | p.TGTTGILAGV3076del |
SPTB | 14 | 65241890 | 65241890 | + | In_Frame_Ins | - | GGCCTCAGCCTCGTCTGCATCCAGGTAGTACTACGAGGCACAGCAGTACTACCT | OCCC_40 | p.1598_1599insR*YCCAS*YYLDADEAEA |
AHNAK2 | 14 | 105412190 | 105412193 | + | Frame_Shift_Del | GTTG | - | OCCC_40 | p.QL3199fs |
MINK1 | 17 | 4796340 | 4796340 | + | Frame_Shift_Ins | - | CTCACGGCCAGGCCGGCCCGCAGTGAGTCACCTGGTGA | OCCC_40 | p.R793fs |
SPTBN4 | 19 | 41025967 | 41025978 | + | In_Frame_Del | GGGAGGCGCGCA | - | OCCC_40 | p.EARR1189del |
OBSCN | 1 | 228560156 | 228560191 | + | In_Frame_Del | AGGAGGCCAGGGCTGAGTCCCAGTCGGAGGAGCAGC | - | OCCC_23 | p.EARAESQSEEQQ7227del |
DSPP | 4 | 88536089 | 88536142 | + | In_Frame_Del | AGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGT | - | OCCC_23 | p.SDSSNSSDSSDSSDSSDS759del |
DST | 6 | 56480945 | 56480946 | + | Frame_Shift_Del | GG | - | OCCC_23 | p.P2440fs |
EVPL | 17 | 74005307 | 74005333 | + | In_Frame_Del | CCAGCACCGGGTCCTTCTCGTGGCGCA | - | OCCC_23 | p.VRHEKDPVL1318del |
EVPL | 17 | 74017566 | 74017566 | + | Frame_Shift_Del | C | - | OCCC_23 | p.V332fs |
MAPK1 | 22 | 22221709 | 22221714 | + | In_Frame_Del | CCGCCG | - | OCCC_23 | p.AA6del |
MAPK8IP2 | 22 | 51044027 | 51044027 | + | Frame_Shift_Ins | - | AACCTGCCGT | OCCC_23 | p.V361fs |
FLG | 1 | 152280802 | 152280802 | + | Frame_Shift_Ins | - | TGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGA | OCCC_38 | p.R2187fs |
LOR | 1 | 153233780 | 153233824 | + | In_Frame_Del | GGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGTGGG | - | OCCC_38 | p.GGSSGGGSGCFSSGG134del |
MSH3 | 5 | 79950709 | 79950717 | + | In_Frame_Del | GCAGCGGCC | - | OCCC_38 | p.AAA58del |