Abstract
Biliary tract cancer (BTC) is a rare cancer and is associated with a poor prognosis. To understand the genetic characteristics of BTC, we analyzed whole-exome sequencing data and identified somatic mutations in patients with BTC. Tumors and matched blood or normal samples were obtained from seven patients with cholangiocarcinoma who underwent surgical resection. We discovered inactivating mutations of tumor suppressor genes, including APC, TP53, and ARID1A, in three patients. Activating mutations of KRAS and NRAS were also identified. Our analyses identified somatic mutations in Korean patients with BTC.
Keywords: biliary tract neoplasms, cholangiocarcinoma, somatic mutations, whole-exome sequencing
Introduction
Biliary tract cancer (BTC) is a heterogeneous group of cancers, including gallbladder cancer and extrahepatic and intrahepatic cholangiocarcinoma. BTC has been known as a disease with a poor prognosis, with few treatment options, regardless of its low incidence. In Korea, in 2014, the crude incidence rate of BTC was 11.2 per 100,000 men, and the crude mortality rate was 7.7 per 100,000 in both men and women [1]. Most patients have been diagnosed at an advanced stage. Although surgical resection is a curative treatment, recurrence of disease has been a clinical issue for patients after surgery [2]. Combination treatment with cisplatin plus gemcitabine has been reported as an appropriate treatment for patients with advanced BTC [3].
The genomic characteristics of BTC have been revealed through several studies using high-throughput next-generation sequencing technologies [4–6]. Jiao et al. [5] reported exome sequencing results of 32 patients with intrahepatic cholangiocarcinoma. Inactivating mutations in chromatin remodeling genes, including BAP1, ARID1A, and PBRM1, were identified with frequent mutations in IDH1 and IDH2. The oncogenes KRAS, PIK3CA, NRAS, GNAS, and ERBB2 were also significantly mutated in BTC [6]. Genomic analyses need to be performed in more BTCs to understand their biology and develop therapeutic strategies.
Here, we reported the whole-exome sequencing (WES) data of seven patients with BTC and analyzed their somatic mutations to compare the genetic features between patients.
Methods
Patients and ppub of clinical data
All patients had been enrolled in a phase II clinical trial at the National Cancer Center of Korea, as approved by the institutional review board (IRB No. NCCCTC-09-411). Enrolled patients had undergone surgical resection for BTC and were then treated with gemcitabine (1,000 mg/m2) as an adjuvant chemotherapy. The participants voluntarily agreed to donate the materials by signing an informed consent form. Tumor samples were obtained from surgical specimens and blood from seven patients with BTC.
Whole-exome sequencing and data analysis
We extracted genomic DNA from tissue specimens and blood samples using the QIAamp DNA mini kit according to the manufacturer’s protocol (Qiagen, Valencia, CA, USA). The concentration and quality of DNA were assessed using a NanoDrop spectrophotometer (Thermo Fisher Scientific, Waltham, MA, USA). WES was performed using the SureSelect Human All Exon V5 Target Enrichment kit (Agilent Technologies, Santa Clara, CA, USA) and processed on the HiSeq 2500 platform (Illumina, San Diego, CA, USA). The size and quantity of the libraries were checked using a 2100 Bioanalyzer (Agilent Technologies).
Sequence reads were aligned to the human reference genome hg19 using the Burrows-Wheeler Aligner–MEM algorithm [7]. The alignments were refined using the Genome Analysis Tool Kit (Broad Institute), and duplicate or low-quality reads were excluded [8]. Somatic mutations were called using Mutect and Strelka with default settings by comparing the sequences of tumor samples with those of matched normal samples [9, 10]. Only mutations showing a total read depth of greater than 30 in normal samples were considered for further analysis.
Results and Discussion
The demographic and clinical characteristics of the patients with BTC, including age, sex, cancer stage, recurrence, and survival, are summarized in Table 1.
Table 1.
Demographic information for patients with BTC
| Patient ID | Sex | Age (y) | Histologic type | RFS duration (mo) | OS duration (mo) | Total No. of somatic mutations |
|---|---|---|---|---|---|---|
| BTC-1 | Male | 57 | Cholangiocarcinoma | 58.2 | 58.6 | 59 |
| BTC-2 | Female | 70 | Cholangiocarcinoma | 4.1 | 50.1 | 32 |
| BTC-4 | Male | 51 | Cholangiocarcinoma | 1.9 | 6.1 | 36 |
| BTC-5 | Female | 68 | Cholangiocarcinoma | 39.8 | 39.8 | 53 |
| BTC-6 | Female | 69 | Cholangiocarcinoma | 18 | 38.5 | 25 |
| BTC-7 | Male | 55 | Cholangiocarcinoma | 8.4 | 23.3 | 31 |
| BTC-8 | Male | 55 | Cholangiocarcinoma | 8.9 | 15.8 | 38 |
BTC, biliary tract cancer; RFS, recurrence-free survival; OS, overall survival.
The patients included three females and four males with an average age of 60 years. Among the seven patients, five patients were defined as experiencing recurrence of disease after surgery.
We analyzed whole-exome sequencing data of matched tumor and normal DNA from the patients. The mean coverage depth for all samples is demonstrated in Supplementary Table 1. In total, 274 somatic mutations in protein-coding regions were called by both callers, Strelka and Mutect. The average number of somatic mutations per case was 34, showing a range of 25 to 59 (Fig. 1). We found two patients harboring activating mutations in KRAS, such as G12V and G13D (Table 2). Missense mutations in codon 61 of the NRAS gene and codon 766 of the NTRK1 gene were also detected in two patients. A nonsense mutation in TP53 was found in a patient, and APC was inactivated by frameshift mutations in two patients. A patient harbored a frameshift mutation that was caused by a deletion of G in the ARID1A gene. Detailed information on the somatic mutations is provided in Supplementary Table 2.
Fig. 1.
Somatic mutation count for patients with biliary tract cancer.
Table 2.
Somatic mutations that were annotated with cancer gene census
| Hugo_Symbol | Sample ID | Variant classification | cDNA change | Protein change |
|---|---|---|---|---|
| APC | BTC-1 | Nonsense | c.4660G>T | p.E1554* |
| APC | BTC-8 | Frameshift | c.4661delA | p.E1554fs |
| ARID1A | BTC-4 | Frameshift | c.937delG | p.G314fs |
| DNMT3A | BTC-7 | Missense | c.946A>G | p.I316V |
| ELN | BTC-4 | Missense | c.593C>T | p.P198L |
| HIP1 | BTC-4 | Missense | c.1300C>T | p.R434W |
| KDM5A | BTC-6 | Missense | c.2791G>A | p.G931R |
| KIAA1549 | BTC-2 | Missense | c.508C>T | p.R170W |
| KRAS | BTC-7 | Missense | c.35G>T | p.G12V |
| KRAS | BTC-8 | Missense | c.38G>A | p.G13D |
| LPP | BTC-7 | Missense | c.457C>T | p.P153S |
| NRAS | BTC-5 | Missense | c.182A>G | p.Q61R |
| NTRK1 | BTC-7 | Missense | c.2297G>A | p.R766Q |
| RB1 | BTC-6 | Missense | c.2402G>C | p.G801A |
| RBM15 | BTC-1 | Missense | c.1519T>G | p.W507G |
| TP53 | BTC-8 | Nonsense | c.1024C>T | p.R342* |
This study analyzed somatic mutations using WES in a limited number of patients with BTC. To understand the genetic features of BTC, more data need to be analyzed from more patients.
SUPPLEMENTARY INFORMATION
Supplementary data including two tables can be found with this article online at https://doi.org/10.5808/GI.2018.16.4.e35.
Supplementary Table 1.
Coverage Information
| Sample | X1 | X5 | X10 | X15 | X20 | X25 | X30 | X50 | Total bases aligned(bases) | Mean coverage depth |
|---|---|---|---|---|---|---|---|---|---|---|
| BTC_1N | 99.96% | 99.77% | 99.22% | 98.14% | 96.33% | 93.69% | 90.19% | 69.94% | 6,034,974,927 | 80.99 |
| BTC_1T | 99.97% | 99.90% | 99.71% | 99.38% | 98.84% | 98.03% | 96.92% | 89.02% | 9,863,779,665 | 132.38 |
| BTC_2N | 99.86% | 99.66% | 99.15% | 98.17% | 96.48% | 93.95% | 90.45% | 69.62% | 5,978,637,815 | 80.24 |
| BTC_2T | 99.88% | 99.79% | 99.63% | 99.38% | 99.00% | 98.46% | 97.71% | 92.10% | 11,086,728,430 | 148.79 |
| BTC_4N | 99.97% | 99.80% | 99.30% | 98.32% | 96.67% | 94.26% | 91.07% | 72.14% | 6,345,622,329 | 85.16 |
| BTC_4T | 99.98% | 99.90% | 99.72% | 99.43% | 98.98% | 98.33% | 97.44% | 91.14% | 10,760,737,151 | 144.41 |
| BTC_5N | 99.86% | 99.62% | 98.95% | 97.66% | 95.53% | 92.44% | 88.40% | 66.57% | 5,823,253,443 | 78.15 |
| BTC_5T | 99.87% | 99.78% | 99.57% | 99.21% | 98.65% | 97.88% | 96.83% | 89.50% | 10,599,020,827 | 142.24 |
| BTC_6N | 99.87% | 99.67% | 99.16% | 98.14% | 96.43% | 93.80% | 90.22% | 69.15% | 5,968,127,744 | 80.09 |
| BTC_6T | 99.88% | 99.79% | 99.63% | 99.37% | 98.99% | 98.43% | 97.66% | 91.94% | 10,923,830,027 | 146.60 |
| BTC_7N | 99.97% | 99.78% | 99.25% | 98.21% | 96.48% | 93.96% | 90.63% | 71.11% | 6,186,543,991 | 83.03 |
| BTC_7T | 99.98% | 99.88% | 99.66% | 99.27% | 98.66% | 97.75% | 96.48% | 87.79% | 9,956,458,889 | 133.62 |
| BTC_8N | 99.97% | 99.76% | 99.17% | 97.97% | 95.96% | 93.09% | 89.35% | 68.81% | 5,998,051,912 | 80.50 |
| BTC_8T | 99.98% | 99.89% | 99.68% | 99.34% | 98.82% | 98.06% | 97.01% | 89.49% | 10,131,605,777 | 135.97 |
Supplementary Table 2.
Detailed information on total somatic mutations
| Patient ID | Hugo_Sym | Entrez_Gen | Chromoso | Start_position | End_position | Variant_Classification | Reference_ | Tumor_Seq | cDNA_Change | Codon_ChaProtein_Ch | Description |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BTC-1 | APC | 324 | 5 | 112174759 | 112174760 | Frame_Shift_Del | AG | - | c.3468_3469delAG | c.(3466-34p.EE1156fs | adenomatous polyposis coli |
| BTC-1 | KRTAP19-6 | 337973 | 21 | 31914024 | 31914024 | Nonsense_Mutation | G | T | c.129C>A | c.(127-129)p.C43* | keratin associated protein 19-6 |
| BTC-1 | PABPC4L | 132430 | 4 | 135121319 | 135121319 | Nonsense_Mutation | G | A | c.856C>T | c.(856-858)p.R286* | poly(A) binding protein, cytoplasmic 4-like |
| BTC-1 | APC | 324 | 5 | 112175951 | 112175951 | Nonsense_Mutation | G | T | c.4660G>T | c.(4660-46p.E1554* | adenomatous polyposis coli |
| BTC-1 | C6orf222 | 389384 | 6 | 36290159 | 36290159 | Nonsense_Mutation | G | C | c.1532C>G | c.(1531-15p.S511* | chromosome 6 open reading frame 222 |
| BTC-1 | ABCA1 | 19 | 9 | 107553269 | 107553269 | Nonsense_Mutation | G | C | c.5861C>G | c.(5860-58p.S1954* | ATP-binding cassette, sub-family A (ABC1), member 1 |
| BTC-1 | AMER1 | 139285X | 63412530 | 63412530 | Nonsense_Mutation | G | A | c.637C>T | c.(637-639)p.Q213* | APC membrane recruitment protein 1 | |
| BTC-1 | MFAP2 | 4237 | 1 | 17302995 | 17302995 | Splice_Site | C | A | c.e5+1 | microfibrillar-associated protein 2 | |
| BTC-1 | HIF3A | 64344 | 19 | 46825222 | 46825222 | Splice_Site | C | T | c.1334C>T | c.(1333-13p.S445L | hypoxia inducible factor 3, alpha subunit |
| BTC-1 | MAP3K13 | 9175 | 3 | 185155234 | 185155234 | Splice_Site | G | C | c.e3-1 | mitogen-activated protein kinase kinase kinase 13 | |
| BTC-1 | DAB2IP | 153090 | 9 | 124329507 | 124329507 | Splice_Site | G | A | c.40G>A | c.(40-42)Gap.E14K | DAB2 interacting protein |
| BTC-1 | ABCC2 | 1244 | 10 | 101591752 | 101591752 | Missense_Mutation | C | T | c.3122C>T | c.(3121-31p.A1041V | ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |
| BTC-1 | ACE | 1636 | 17 | 61570945 | 61570945 | Missense_Mutation | G | A | c.1339G>A | c.(1339-134p.V447M | angiotensin I converting enzyme |
| BTC-1 | ACTN2 | 88 | 1 | 236899007 | 236899007 | Missense_Mutation | C | T | c.770C>T | c.(769-771)p.A257V | actinin, alpha 2 |
| BTC-1 | ACTN4 | 81 | 19 | 39207832 | 39207832 | Missense_Mutation | G | A | c.1019G>A | c.(1018-10p.R340H | actinin, alpha 4 |
| BTC-1 | ACVR1B | 91 | 12 | 52379016 | 52379016 | Missense_Mutation | C | A | c.864C>A | c.(862-864)p.N288K | activin A receptor, type IB |
| BTC-1 | ADCY5 | 111 | 3 | 123166420 | 123166420 | Missense_Mutation | C | T | c.973G>A | c.(973-975)p.A325T | adenylate cyclase 5 |
| BTC-1 | ADCY8 | 114 | 8 | 131949376 | 131949376 | Missense_Mutation | C | T | c.1424G>A | c.(1423-14p.R475H | adenylate cyclase 8 (brain) |
| BTC-1 | ANO3 | 63982 | 11 | 26463533 | 26463533 | Missense_Mutation | T | C | c.115T>C | c.(115-117)p.C39R | anoctamin 3 |
| BTC-1 | APC2 | 10297 | 19 | 1457029 | 1457029 | Missense_Mutation | G | A | c.994G>A | c.(994-996)p.A332T | adenomatosis polyposis coli 2 |
| BTC-1 | AQPEP | 0 | 5 | 115298621 | 115298621 | Missense_Mutation | G | A | c.307G>A | c.(307-309)p.V103M | |
| BTC-1 | AUTS2 | 26053 | 7 | 69364311 | 69364311 | Missense_Mutation | C | T | c.349C>T | c.(349-351)p.R117C | autism susceptibility candidate 2 |
| BTC-1 | C11orf63 | 79864 | 11 | 122775018 | 122775018 | Missense_Mutation | C | T | c.730C>T | c.(730-732)p.R244C | chromosome 11 open reading frame 63 |
| BTC-1 | C5orf42 | 65250 | 5 | 37153858 | 37153858 | Missense_Mutation | T | A | c.8195A>T | c.(8194-81p.D2732V | chromosome 5 open reading frame 42 |
| BTC-1 | CDH2 | 1000 | 18 | 25572711 | 25572711 | Missense_Mutation | C | T | c.1159G>A | c.(1159-11p.A387T | cadherin 2, type 1, N-cadherin (neuronal) |
| BTC-1 | CHST9 | 83539 | 18 | 24628462 | 24628462 | Missense_Mutation | C | T | c.127G>A | c.(127-129)p.V43M | carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 |
| BTC-1 | CYP11B1 | 1584 | 8 | 143956558 | 143956558 | Missense_Mutation | C | T | c.1426G>A | c.(1426-14p.V476M | cytochrome P450, family 11, subfamily B, polypeptide 1 |
| BTC-1 | DNAH10 | 196385 | 12 | 124341718 | 124341718 | Missense_Mutation | G | A | c.6200G>A | c.(6199-62p.R2067H | dynein, axonemal, heavy chain 10 |
| BTC-1 | DSCAM | 1826 | 21 | 41559851 | 41559851 | Missense_Mutation | C | T | c.2617G>A | c.(2617-26p.E873K | Down syndrome cell adhesion molecule |
| BTC-1 | ELF3 | 1999 | 1 | 201983140 | 201983140 | Missense_Mutation | G | A | c.989G>A | c.(988-990)p.S330N | E74-like factor 3 (ets domain transcription factor, epithelial-specific ) |
| BTC-1 | FGD3 | 89846 | 9 | 95738639 | 95738639 | Missense_Mutation | C | T | c.101C>T | c.(100-102)p.A34V | FYVE, RhoGEF and PH domain containing 3 |
| BTC-1 | FUBP3 | 8939 | 9 | 133493210 | 133493210 | Missense_Mutation | G | A | c.594G>A | c.(592-594)p.M198I | far upstream element (FUSE) binding protein 3 |
| BTC-1 | HAND1 | 9421 | 5 | 153855452 | 153855452 | Missense_Mutation | G | T | c.562C>A | c.(562-564)p.P188T | heart and neural crest derivatives expressed 1 |
| BTC-1 | KCNS2 | 3788 | 8 | 99440299 | 99440299 | Missense_Mutation | G | A | c.92G>A | c.(91-93)cGp.R31H | potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 |
| BTC-1 | KIAA1429 | 25962 | 8 | 95503865 | 95503865 | Missense_Mutation | C | G | c.5081G>C | c.(5080-50p.R1694T | KIAA1429 |
| BTC-1 | KRTAP19-1 | 337882 | 21 | 31852374 | 31852374 | Missense_Mutation | C | T | c.263G>A | c.(262-264)p.G88D | keratin associated protein 19-1 |
| BTC-1 | LRP1B | 53353 | 2 | 141004693 | 141004693 | Missense_Mutation | G | T | c.13286C>A | c.(13285-1p.P4429Q | low density lipoprotein receptor-related protein 1B |
| BTC-1 | LRRK2 | 120892 | 12 | 40689336 | 40689336 | Missense_Mutation | G | T | c.2986G>T | c.(2986-29p.D996Y | leucine-rich repeat kinase 2 |
| BTC-1 | MAP2K1 | 5604 | 15 | 66727455 | 66727455 | Missense_Mutation | G | C | c.171G>C | c.(169-171)p.K57N | mitogen-activated protein kinase kinase 1 |
| BTC-1 | MBTD1 | 54799 | 17 | 49296318 | 49296318 | Missense_Mutation | A | C | c.376T>G | c.(376-378)p.L126V | mbt domain containing 1 |
| BTC-1 | MUC19 | 283463 | 12 | 40820354 | 40820354 | Missense_Mutation | G | A | c.332G>A | c.(331-333)p.R111H | mucin 19, oligomeric |
| BTC-1 | MYLK2 | 85366 | 20 | 30419645 | 30419645 | Missense_Mutation | G | A | c.1564G>A | c.(1564-15p.V522I | myosin light chain kinase 2 |
| BTC-1 | PCDH17 | 27253 | 13 | 58207860 | 58207860 | Missense_Mutation | G | A | c.1180G>A | c.(1180-11p.G394R | protocadherin 17 |
| BTC-1 | PLIN4 | 729359 | 19 | 4510530 | 4510530 | Missense_Mutation | G | A | c.3400C>T | c.(3400-34p.R1134C | perilipin 4 |
| BTC-1 | PRRC2B | 84726 | 9 | 134322013 | 134322013 | Missense_Mutation | A | G | c.839A>G | c.(838-840)p.D280G | proline-rich coiled-coil 2B |
| BTC-1 | RBM15 | 64783 | 1 | 110883546 | 110883546 | Missense_Mutation | T | G | c.1519T>G | c.(1519-15p.W507G | RNA binding motif protein 15 |
| BTC-1 | RP1-139D8 | 0 | 6 | 42123292 | 42123292 | Missense_Mutation | G | T | c.14G>T | c.(13-15)aGp.S5I | |
| BTC-1 | SDK1 | 221935 | 7 | 4273010 | 4273010 | Missense_Mutation | C | T | c.5891C>T | c.(5890-58p.A1964V | sidekick cell adhesion molecule 1 |
| BTC-1 | SPRY2 | 10253 | 13 | 80911584 | 80911584 | Missense_Mutation | G | C | c.257C>G | c.(256-258)p.P86R | sprouty homolog 2 (Drosophila) |
| BTC-1 | ST6GALNA | 81849 | 1 | 77509964 | 77509964 | Missense_Mutation | C | A | c.337C>A | c.(337-339)p.Q113K | ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
| BTC-1 | SYT3 | 84258 | 19 | 51135883 | 51135883 | Missense_Mutation | C | T | c.334G>A | c.(334-336)p.G112R | synaptotagmin III |
| BTC-1 | TADA2A | 6871 | 17 | 35837062 | 35837062 | Missense_Mutation | G | C | c.1307G>C | c.(1306-13p.R436T | transcriptional adaptor 2A |
| BTC-1 | TGM2 | 7052 | 20 | 36793594 | 36793594 | Missense_Mutation | C | T | c.7G>A | c.(7-9)Gagp.E3K | transglutaminase 2 |
| BTC-1 | TMEM184B | 25829 | 22 | 38643871 | 38643871 | Missense_Mutation | T | C | c.97A>G | c.(97-99)Acp.T33A | transmembrane protein 184B |
| BTC-1 | TRPC1 | 7220 | 3 | 142499703 | 142499703 | Missense_Mutation | A | T | c.792A>T | c.(790-792)p.Q264H | transient receptor potential cation channel, subfamily C, member 1 |
| BTC-1 | TSHZ3 | 57616 | 19 | 31770589 | 31770589 | Missense_Mutation | G | C | c.110C>G | c.(109-111)p.A37G | teashirt zinc finger homeobox 3 |
| BTC-1 | TSPAN14 | 81619 | 10 | 82271948 | 82271948 | Missense_Mutation | T | G | c.499T>G | c.(499-501)p.Y167D | tetraspanin 14 |
| BTC-1 | ZFR | 51663 | 5 | 32395347 | 32395347 | Missense_Mutation | C | T | c.1897G>A | c.(1897-18p.E633K | zinc finger RNA binding protein |
| BTC-1 | ZFYVE26 | 23503 | 14 | 68264958 | 68264958 | Missense_Mutation | C | A | c.2021G>T | c.(2020-20p.G674V | zinc finger, FYVE domain containing 26 |
| BTC-2 | EPHA2 | 1969 | 1 | 16464447 | 16464447 | Frame_Shift_Del | G | - | c.1213delC | c.(1213-12p.H405fs | EPH receptor A2 |
| BTC-2 | LGI4 | 163175 | 19 | 35617610 | 35617610 | Nonsense_Mutation | C | T | c.863G>A | c.(862-864)p.W288* | leucine-rich repeat LGI family, member 4 |
| BTC-2 | EPHA2 | 1969 | 1 | 16456720 | 16456720 | Splice_Site | C | T | c.e15+1 | EPH receptor A2 | |
| BTC-2 | C17orf97 | 400566 | 17 | 260315 | 260315 | Missense_Mutation | G | T | c.182G>T | c.(181-183)p.G61V | chromosome 17 open reading frame 97 |
| BTC-2 | CAMK2N1 | 55450 | 1 | 20810156 | 20810156 | Missense_Mutation | G | A | c.223C>T | c.(223-225)p.P75S | calcium/calmodulin-dependent protein kinase II inhibitor 1 |
| BTC-2 | CNBD1 | 168975 | 8 | 88249206 | 88249206 | Missense_Mutation | G | A | c.637G>A | c.(637-639)p.V213M | cyclic nucleotide binding domain containing 1 |
| BTC-2 | COL14A1 | 7373 | 8 | 121292323 | 121292323 | Missense_Mutation | G | A | c.3631G>A | c.(3631-36p.E1211K | collagen, type XIV, alpha 1 |
| BTC-2 | FBN3 | 84467 | 19 | 8201283 | 8201283 | Missense_Mutation | C | T | c.1334G>A | c.(1333-13p.G445D | fibrillin 3 |
| BTC-2 | FIGN | 55137 | 2 | 164467285 | 164467285 | Missense_Mutation | C | A | c.1057G>T | c.(1057-10p.D353Y | fidgetin |
| BTC-2 | FLNB | 2317 | 3 | 58118580 | 58118580 | Missense_Mutation | A | G | c.4529A>G | c.(4528-45p.H1510R | filamin B, beta |
| BTC-2 | INO80D | 54891 | 2 | 206884534 | 206884534 | Missense_Mutation | G | A | c.1334C>T | c.(1333-13p.A445V | INO80 complex subunit D |
| BTC-2 | INTS1 | 26173 | 7 | 1544069 | 1544069 | Missense_Mutation | C | G | c.233G>C | c.(232-234)p.C78S | integrator complex subunit 1 |
| BTC-2 | KCNIP1 | 30820 | 5 | 170145809 | 170145809 | Missense_Mutation | G | A | c.109G>A | c.(109-111)p.E37K | Kv channel interacting protein 1 |
| BTC-2 | KIAA1549 | 57670 | 7 | 138603864 | 138603864 | Missense_Mutation | G | A | c.508C>T | c.(508-510)p.R170W | KIAA1549 |
| BTC-2 | LGALS9 | 3965 | 17 | 25975970 | 25975970 | Missense_Mutation | G | A | c.934G>A | c.(934-936)p.V312M | lectin, galactoside-binding, soluble, 9 |
| BTC-2 | PLEKHG1 | 57480 | 6 | 151152904 | 151152904 | Missense_Mutation | G | A | c.2657G>A | c.(2656-26p.R886H | pleckstrin homology domain containing, family G (with RhoGef domain) member 1 |
| BTC-2 | PNCK | 139728X | 152937421 | 152937421 | Missense_Mutation | C | G | c.328G>C | c.(328-330)p.E110Q | pregnancy up-regulated nonubiquitous CaM kinase | |
| BTC-2 | PPDPF | 79144 | 20 | 62152924 | 62152924 | Missense_Mutation | G | A | c.115G>A | c.(115-117)p.A39T | pancreatic progenitor cell differentiation and proliferation factor |
| BTC-2 | PROKR2 | 128674 | 20 | 5282783 | 5282783 | Missense_Mutation | C | T | c.1058G>A | c.(1057-10p.R353H | prokineticin receptor 2 |
| BTC-2 | RP11-429E | 0 | 20 | 60294088 | 60294088 | Missense_Mutation | G | A | c.139C>T | c.(139-141)p.L47F | |
| BTC-2 | SCN5A | 6331 | 3 | 38645514 | 38645514 | Missense_Mutation | C | T | c.1579G>A | c.(1579-15p.G527R | sodium channel, voltage-gated, type V, alpha subunit |
| BTC-2 | SLC35F1 | 222553 | 6 | 118556702 | 118556702 | Missense_Mutation | G | A | c.380G>A | c.(379-381)p.R127Q | solute carrier family 35, member F1 |
| BTC-2 | SLC9A6 | 10479X | 135067950 | 135067950 | Missense_Mutation | C | T | c.289C>T | c.(289-291)p.R97C | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | |
| BTC-2 | SPARC | 6678 | 5 | 151047056 | 151047056 | Missense_Mutation | T | C | c.557A>G | c.(556-558)p.N186S | secreted protein, acidic, cysteine-rich (osteonectin) |
| BTC-2 | TLL2 | 7093 | 10 | 98144434 | 98144434 | Missense_Mutation | C | G | c.2104G>C | c.(2104-21p.V702L | tolloid-like 2 |
| BTC-2 | TRIM58 | 25893 | 1 | 248028097 | 248028097 | Missense_Mutation | C | T | c.607C>T | c.(607-609)p.R203W | tripartite motif containing 58 |
| BTC-2 | TSPAN16 | 26526 | 19 | 11408947 | 11408947 | Missense_Mutation | A | G | c.199A>G | c.(199-201)p.I67V | tetraspanin 16 |
| BTC-2 | TSSK2 | 23617 | 22 | 19119034 | 19119034 | Missense_Mutation | A | C | c.122A>C | c.(121-123)p.K41T | testis-specific serine kinase 2 |
| BTC-2 | VAV2 | 7410 | 9 | 136635595 | 136635595 | Missense_Mutation | G | A | c.2222C>T | c.(2221-22p.S741L | vav 2 guanine nucleotide exchange factor |
| BTC-2 | ZC2HC1B | 153918 | 6 | 144224199 | 144224199 | Missense_Mutation | C | T | c.508C>T | c.(508-510)p.P170S | zinc finger, C2HC-type containing 1B |
| BTC-2 | ZFP69B | 65243 | 1 | 40928270 | 40928270 | Missense_Mutation | G | A | c.614G>A | c.(613-615)p.G205D | ZFP69 zinc finger protein B |
| BTC-2 | ZNF423 | 23090 | 16 | 49669726 | 49669726 | Missense_Mutation | C | T | c.3337G>A | c.(3337-33p.A1113T | zinc finger protein 423 |
| BTC-4 | ARID1A | 8289 | 1 | 27023831 | 27023831 | Frame_Shift_Del | G | - | c.937delG | c.(937-939)p.G314fs | AT rich interactive domain 1A (SWI-like) |
| BTC-4 | TULP1 | 7287 | 6 | 35480415 | 35480415 | Splice_Site | C | G | c.e2+1 | tubby like protein 1 | |
| BTC-4 | ACOXL | 55289 | 2 | 111850501 | 111850501 | Missense_Mutation | T | A | c.1590T>A | c.(1588-15p.H530Q | acyl-CoA oxidase-like |
| BTC-4 | CACNA1H | 8912 | 16 | 1270626 | 1270626 | Missense_Mutation | C | A | c.6676C>A | c.(6676-66p.L2226M | calcium channel, voltage-dependent, T type, alpha 1H subunit |
| BTC-4 | CATSPERB | 79820 | 14 | 92174496 | 92174496 | Missense_Mutation | T | A | c.455A>T | c.(454-456)p.D152V | catsper channel auxiliary subunit beta |
| BTC-4 | CDKN2A | 1029 | 9 | 21971035 | 21971035 | Missense_Mutation | T | C | c.170A>G | c.(169-171)p.D57G | cyclin-dependent kinase inhibitor 2A |
| BTC-4 | CES3 | 23491 | 16 | 67006620 | 67006620 | Missense_Mutation | G | A | c.408G>A | c.(406-408)p.M136I | carboxylesterase 3 |
| BTC-4 | CLCNKA | 1187 | 1 | 16349137 | 16349137 | Missense_Mutation | G | A | c.23G>A | c.(22-24)cGp.R8H | chloride channel, voltage-sensitive Ka |
| BTC-4 | COL22A1 | 169044 | 8 | 139890232 | 139890232 | Missense_Mutation | C | T | c.419G>A | c.(418-420)p.R140H | collagen, type XXII, alpha 1 |
| BTC-4 | CRISPLD1 | 83690 | 8 | 75941665 | 75941665 | Missense_Mutation | G | A | c.1364G>A | c.(1363-13p.R455Q | cysteine-rich secretory protein LCCL domain containing 1 |
| BTC-4 | DAW1 | 164781 | 2 | 228767727 | 228767727 | Missense_Mutation | T | C | c.550T>C | c.(550-552)p.S184P | dynein assembly factor with WDR repeat domains 1 |
| BTC-4 | DYSF | 8291 | 2 | 71797023 | 71797023 | Missense_Mutation | G | A | c.2938G>A | c.(2938-294p.G980R | dysferlin |
| BTC-4 | ELN | 2006 | 7 | 73461047 | 73461047 | Missense_Mutation | C | T | c.593C>T | c.(592-594)p.P198L | elastin |
| BTC-4 | FAM135B | 51059 | 8 | 139165339 | 139165339 | Missense_Mutation | A | G | c.1379T>C | c.(1378-13p.L460P | family with sequence similarity 135, member B |
| BTC-4 | FAM208B | 54906 | 10 | 5803432 | 5803432 | Missense_Mutation | C | A | c.7172C>A | c.(7171-71p.T2391K | family with sequence similarity 208, member B |
| BTC-4 | GPR65 | 8477 | 14 | 88478153 | 88478153 | Missense_Mutation | G | A | c.962G>A | c.(961-963)p.R321H | G protein-coupled receptor 65 |
| BTC-4 | GUCY1A3 | 2982 | 4 | 156643206 | 156643206 | Missense_Mutation | A | T | c.1733A>T | c.(1732-17p.H578L | guanylate cyclase 1, soluble, alpha 3 |
| BTC-4 | HID1 | 283987 | 17 | 72959068 | 72959068 | Missense_Mutation | T | A | c.496A>T | c.(496-498)p.S166C | HID1 domain containing |
| BTC-4 | HIP1 | 3092 | 7 | 75189111 | 75189111 | Missense_Mutation | G | A | c.1300C>T | c.(1300-13p.R434W | huntingtin interacting protein 1 |
| BTC-4 | IRF3 | 3661 | 19 | 50167939 | 50167939 | Missense_Mutation | T | C | c.157A>G | c.(157-159)p.I53V | interferon regulatory factor 3 |
| BTC-4 | KCNB1 | 3745 | 20 | 48098906 | 48098906 | Missense_Mutation | C | T | c.112G>A | c.(112-114)p.G38R | potassium voltage-gated channel, Shab-related subfamily, member 1 |
| BTC-4 | KCNT1 | 57582 | 9 | 138664603 | 138664603 | Missense_Mutation | C | T | c.2051C>T | c.(2050-20p.T684M | potassium channel, subfamily T, member 1 |
| BTC-4 | LLGL1 | 3996 | 17 | 18143990 | 18143990 | Missense_Mutation | C | T | c.2305C>T | c.(2305-23p.R769W | lethal giant larvae homolog 1 (Drosophila) |
| BTC-4 | LPHN1 | 22859 | 19 | 14294398 | 14294398 | Missense_Mutation | G | A | c.17C>T | c.(16-18)gCp.A6V | latrophilin 1 |
| BTC-4 | MARS | 4141 | 12 | 57906626 | 57906626 | Missense_Mutation | A | T | c.1846A>T | c.(1846-184p.I616F | methionyl-tRNA synthetase |
| BTC-4 | MBTPS1 | 8720 | 16 | 84093019 | 84093019 | Missense_Mutation | G | A | c.2719C>T | c.(2719-27p.R907W | membrane-bound transcription factor peptidase, site 1 |
| BTC-4 | PDC | 5132 | 1 | 186413572 | 186413572 | Missense_Mutation | G | A | c.280C>T | c.(280-282)p.R94C | phosducin |
| BTC-4 | PTTG1IP | 754 | 21 | 46285352 | 46285352 | Missense_Mutation | C | G | c.126G>C | c.(124-126)p.Q42H | pituitary tumor-transforming 1 interacting protein |
| BTC-4 | RBBP6 | 5930 | 16 | 24581304 | 24581304 | Missense_Mutation | A | T | c.3293A>T | c.(3292-32p.E1098V | retinoblastoma binding protein 6 |
| BTC-4 | RBBP7 | 5931X | 16871823 | 16871823 | Missense_Mutation | T | A | c.872A>T | c.(871-873)p.D291V | retinoblastoma binding protein 7 | |
| BTC-4 | RDH10 | 157506 | 8 | 74234976 | 74234976 | Missense_Mutation | A | G | c.833A>G | c.(832-834)p.K278R | retinol dehydrogenase 10 (all-trans) |
| BTC-4 | RFX8 | 731220 | 2 | 102018971 | 102018971 | Missense_Mutation | C | T | c.1172G>A | c.(1171-11p.R391Q | RFX family member 8, lacking RFX DNA binding domain |
| BTC-4 | SEMA6D | 80031 | 15 | 48058143 | 48058143 | Missense_Mutation | C | T | c.1505C>T | c.(1504-15p.A502V | sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D |
| BTC-4 | SLC6A17 | 388662 | 1 | 110734682 | 110734682 | Missense_Mutation | C | A | c.953C>A | c.(952-954)p.A318D | solute carrier family 6 (neutral amino acid transporter), member 17 |
| BTC-4 | TMEM205 | 374882 | 19 | 11455971 | 11455971 | Missense_Mutation | G | A | c.221C>T | c.(220-222)p.S74L | transmembrane protein 205 |
| BTC-4 | TRIM4 | 89122 | 7 | 99506284 | 99506284 | Missense_Mutation | T | C | c.719A>G | c.(718-720)p.N240S | tripartite motif containing 4 |
| BTC-5 | HMCN1 | 83872 | 1 | 186057081 | 186057084 | Frame_Shift_Del | GTAT | - | c.9381_9384delGT | c.(9379-93p.QY3127fs | hemicentin 1 |
| BTC-5 | UPP2 | 151531 | 2 | 158977957 | 158977958 | Frame_Shift_Ins | - | T | c.491_492insT | c.(490-495)p.V165fs | uridine phosphorylase 2 |
| BTC-5 | FNTB | 2342 | 14 | 65511053 | 65511053 | Nonsense_Mutation | C | T | c.847C>T | c.(847-849)p.R283* | farnesyltransferase, CAAX box, beta |
| BTC-5 | ACSM2A | 123876 | 16 | 20482871 | 20482871 | Nonsense_Mutation | C | T | c.754C>T | c.(754-756)p.Q252* | acyl-CoA synthetase medium-chain family member 2A |
| BTC-5 | PSD3 | 23362 | 8 | 18430175 | 18430175 | Nonsense_Mutation | C | A | c.2647G>T | c.(2647-264p.E883* | pleckstrin and Sec7 domain containing 3 |
| BTC-5 | COL11A1 | 1301 | 1 | 103467527 | 103467527 | Splice_Site | T | C | c.e24-2 | collagen, type XI, alpha 1 | |
| BTC-5 | AC007405. | 0 | 2 | 171570595 | 171570595 | Missense_Mutation | G | C | c.359C>G | c.(358-360)p.A120G | |
| BTC-5 | AC009365. | 0 | 7 | 132412557 | 132412557 | Missense_Mutation | G | A | c.409G>A | c.(409-411)p.V137I | |
| BTC-5 | ADAM21 | 8747 | 14 | 70924614 | 70924614 | Missense_Mutation | G | T | c.398G>T | c.(397-399)p.R133L | ADAM metallopeptidase domain 21 |
| BTC-5 | APOOL | 139322X | 84329077 | 84329077 | Missense_Mutation | G | C | c.560G>C | c.(559-561)p.S187T | apolipoprotein O-like | |
| BTC-5 | ASPM | 259266 | 1 | 197074062 | 197074062 | Missense_Mutation | T | C | c.4319A>G | c.(4318-43p.Q1440R | asp (abnormal spindle) homolog, microcephaly associated (Drosophila) |
| BTC-5 | ATP7A | 538X | 77301051 | 77301051 | Missense_Mutation | C | A | c.4208C>A | c.(4207-42p.S1403Y | ATPase, Cu++ transporting, alpha polypeptide | |
| BTC-5 | ATP8B4 | 79895 | 15 | 50288883 | 50288883 | Missense_Mutation | C | G | c.580G>C | c.(580-582)p.G194R | ATPase, class I, type 8B, member 4 |
| BTC-5 | CACNA1A | 773 | 19 | 13616812 | 13616812 | Missense_Mutation | C | A | c.227G>T | c.(226-228)p.R76L | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| BTC-5 | CCDC175 | 729665 | 14 | 60031860 | 60031860 | Missense_Mutation | T | C | c.625A>G | c.(625-627)p.I209V | coiled-coil domain containing 175 |
| BTC-5 | CCL18 | 6362 | 17 | 34398340 | 34398340 | Missense_Mutation | G | A | c.209G>A | c.(208-210)p.C70Y | chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) |
| BTC-5 | CD163 | 9332 | 12 | 7651580 | 7651580 | Missense_Mutation | A | G | c.662T>C | c.(661-663)p.I221T | CD163 molecule |
| BTC-5 | COL21A1 | 81578 | 6 | 55922544 | 55922544 | Missense_Mutation | G | T | c.2785C>A | c.(2785-27p.Q929K | collagen, type XXI, alpha 1 |
| BTC-5 | CSMD3 | 114788 | 8 | 113697935 | 113697935 | Missense_Mutation | G | C | c.2182C>G | c.(2182-21p.P728A | CUB and Sushi multiple domains 3 |
| BTC-5 | CXorf28 | 1E+08X | 3189922 | 3189922 | Missense_Mutation | C | T | c.49C>T | c.(49-51)Ccp.P17S | chromosome X open reading frame 28 | |
| BTC-5 | DMXL2 | 23312 | 15 | 51791693 | 51791693 | Missense_Mutation | T | A | c.3728A>T | c.(3727-37p.D1243V | Dmx-like 2 |
| BTC-5 | GAS2 | 2620 | 11 | 22747946 | 22747946 | Missense_Mutation | G | A | c.376G>A | c.(376-378)p.D126N | growth arrest-specific 2 |
| BTC-5 | GPR98 | 84059 | 5 | 89939702 | 89939702 | Missense_Mutation | C | T | c.2636C>T | c.(2635-26p.T879M | G protein-coupled receptor 98 |
| BTC-5 | HOXA4 | 3201 | 7 | 27170310 | 27170310 | Missense_Mutation | G | T | c.43C>A | c.(43-45)Ccp.P15T | homeobox A4 |
| BTC-5 | HP | 3240 | 16 | 72090131 | 72090131 | Missense_Mutation | C | T | c.77C>T | c.(76-78)aCp.T26M | haptoglobin |
| BTC-5 | ICAM5 | 7087 | 19 | 10405259 | 10405259 | Missense_Mutation | T | C | c.2173T>C | c.(2173-21p.C725R | intercellular adhesion molecule 5, telencephalin |
| BTC-5 | KIAA1244 | 57221 | 6 | 138576619 | 138576619 | Missense_Mutation | C | T | c.817C>T | c.(817-819)p.H273Y | KIAA1244 |
| BTC-5 | KIF21B | 23046 | 1 | 200948693 | 200948693 | Missense_Mutation | C | T | c.4130G>A | c.(4129-41p.R1377Q | kinesin family member 21B |
| BTC-5 | KRTAP21-1 | 337977 | 21 | 32127554 | 32127554 | Missense_Mutation | C | A | c.143G>T | c.(142-144)p.C48F | keratin associated protein 21-1 |
| BTC-5 | LCA10 | 0X | 153152431 | 153152431 | Missense_Mutation | G | T | c.311G>T | c.(310-312)p.R104L | ||
| BTC-5 | MAP1B | 4131 | 5 | 71490888 | 71490888 | Missense_Mutation | C | G | c.1706C>G | c.(1705-17p.T569R | microtubule-associated protein 1B |
| BTC-5 | MLK4 | 0 | 1 | 233518335 | 233518335 | Missense_Mutation | C | T | c.2989C>T | c.(2989-29p.P997S | |
| BTC-5 | NBEAL2 | 23218 | 3 | 47041430 | 47041430 | Missense_Mutation | C | A | c.3841C>A | c.(3841-384p.Q1281K | neurobeachin-like 2 |
| BTC-5 | NFATC2 | 4773 | 20 | 50140482 | 50140482 | Missense_Mutation | C | T | c.298G>A | c.(298-300)p.A100T | nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 |
| BTC-5 | NRAS | 4893 | 1 | 115256529 | 115256529 | Missense_Mutation | T | C | c.182A>G | c.(181-183)p.Q61R | neuroblastoma RAS viral (v-ras) oncogene homolog |
| BTC-5 | OLFML2B | 25903 | 1 | 161967939 | 161967939 | Missense_Mutation | T | A | c.1153A>T | c.(1153-11p.S385C | olfactomedin-like 2B |
| BTC-5 | OSBPL5 | 114879 | 11 | 3143583 | 3143583 | Missense_Mutation | G | A | c.295C>T | c.(295-297)p.L99F | oxysterol binding protein-like 5 |
| BTC-5 | PCDHB1 | 29930 | 5 | 140432385 | 140432385 | Missense_Mutation | G | A | c.1330G>A | c.(1330-13p.D444N | protocadherin beta 1 |
| BTC-5 | PCSK5 | 5125 | 9 | 78936474 | 78936474 | Missense_Mutation | G | A | c.3940G>A | c.(3940-394p.E1314K | proprotein convertase subtilisin/kexin type 5 |
| BTC-5 | PGR | 5241 | 11 | 100998706 | 100998706 | Missense_Mutation | C | T | c.1096G>A | c.(1096-10p.D366N | progesterone receptor |
| BTC-5 | PHIP | 55023 | 6 | 79695085 | 79695085 | Missense_Mutation | T | G | c.2521A>C | c.(2521-25p.S841R | pleckstrin homology domain interacting protein |
| BTC-5 | PIK3C2G | 5288 | 12 | 18435656 | 18435656 | Missense_Mutation | C | A | c.641C>A | c.(640-642)p.P214H | phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma |
| BTC-5 | PRKCD | 5580 | 3 | 53219710 | 53219710 | Missense_Mutation | A | T | c.979A>T | c.(979-981)p.M327L | protein kinase C, delta |
| BTC-5 | SEC14L2 | 23541 | 22 | 30802345 | 30802345 | Missense_Mutation | C | G | c.145C>G | c.(145-147)p.L49V | SEC14-like 2 (S. cerevisiae) |
| BTC-5 | SEMA6A | 57556 | 5 | 115782872 | 115782872 | Missense_Mutation | C | T | c.2530G>A | c.(2530-25p.E844K | sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A |
| BTC-5 | SKIV2L2 | 23517 | 5 | 54635888 | 54635888 | Missense_Mutation | G | T | c.566G>T | c.(565-567)p.S189I | superkiller viralicidic activity 2-like 2 (S. cerevisiae) |
| BTC-5 | TAF1L | 138474 | 9 | 32631848 | 32631848 | Missense_Mutation | G | A | c.3730C>T | c.(3730-37p.R1244W | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like |
| BTC-5 | TEX15 | 56154 | 8 | 30702546 | 30702546 | Missense_Mutation | T | G | c.3988A>C | c.(3988-39p.K1330Q | testis expressed 15 |
| BTC-5 | TLR8 | 51311X | 12939230 | 12939230 | Missense_Mutation | G | C | c.2125G>C | c.(2125-21p.E709Q | toll-like receptor 8 | |
| BTC-5 | TMEM200A | 114801 | 6 | 130762039 | 130762039 | Missense_Mutation | A | G | c.472A>G | c.(472-474)p.I158V | transmembrane protein 200A |
| BTC-5 | TMEM80 | 283232 | 11 | 703112 | 703112 | Missense_Mutation | G | T | c.469G>T | c.(469-471)p.V157F | transmembrane protein 80 |
| BTC-5 | TRPM6 | 140803 | 9 | 77377993 | 77377993 | Missense_Mutation | C | A | c.3594G>T | c.(3592-35p.K1198N | transient receptor potential cation channel, subfamily M, member 6 |
| BTC-5 | TSPYL5 | 85453 | 8 | 98290039 | 98290039 | Missense_Mutation | G | A | c.34C>T | c.(34-36)Cgp.R12C | TSPY-like 5 |
| BTC-6 | AMIGO2 | 347902 | 12 | 47471598 | 47471598 | Missense_Mutation | A | C | c.1188T>G | c.(1186-11p.F396L | adhesion molecule with Ig-like domain 2 |
| BTC-6 | BIRC6 | 57448 | 2 | 32712788 | 32712788 | Missense_Mutation | A | T | c.7888A>T | c.(7888-78p.I2630F | baculoviral IAP repeat containing 6 |
| BTC-6 | BZW1 | 9689 | 2 | 201680210 | 201680210 | Missense_Mutation | T | G | c.211T>G | c.(211-213)p.F71V | basic leucine zipper and W2 domains 1 |
| BTC-6 | CD200R1 | 131450 | 3 | 112648303 | 112648303 | Missense_Mutation | G | A | c.185C>T | c.(184-186)p.P62L | CD200 receptor 1 |
| BTC-6 | CRYBG3 | 131544 | 3 | 97593426 | 97593426 | Missense_Mutation | G | T | c.3388G>T | c.(3388-33p.G1130W | beta-gamma crystallin domain containing 3 |
| BTC-6 | DEAF1 | 10522 | 11 | 694992 | 694992 | Missense_Mutation | A | G | c.56T>C | c.(55-57)gTp.V19A | DEAF1 transcription factor |
| BTC-6 | EFCAB5 | 374786 | 17 | 28295933 | 28295933 | Missense_Mutation | A | T | c.315A>T | c.(313-315)p.E105D | EF-hand calcium binding domain 5 |
| BTC-6 | FSIP2 | 401024 | 2 | 186671383 | 186671383 | Missense_Mutation | G | A | c.17350G>A | c.(17350-1p.A5784T | fibrous sheath interacting protein 2 |
| BTC-6 | GAPVD1 | 26130 | 9 | 128064438 | 128064438 | Missense_Mutation | A | T | c.362A>T | c.(361-363)p.N121I | GTPase activating protein and VPS9 domains 1 |
| BTC-6 | IQSEC2 | 23096X | 53349985 | 53349985 | Missense_Mutation | C | T | c.337G>A | c.(337-339)p.D113N | IQ motif and Sec7 domain 2 | |
| BTC-6 | KDM5A | 5927 | 12 | 427378 | 427378 | Missense_Mutation | C | T | c.2791G>A | c.(2791-27p.G931R | lysine (K)-specific demethylase 5A |
| BTC-6 | LPAR3 | 23566 | 1 | 85279695 | 85279695 | Missense_Mutation | T | C | c.896A>G | c.(895-897)p.D299G | lysophosphatidic acid receptor 3 |
| BTC-6 | NLRP1 | 22861 | 17 | 5462767 | 5462767 | Missense_Mutation | A | G | c.1249T>C | c.(1249-12p.W417R | NLR family, pyrin domain containing 1 |
| BTC-6 | OR6B3 | 150681 | 2 | 240984973 | 240984973 | Missense_Mutation | C | A | c.517G>T | c.(517-519)p.V173F | olfactory receptor, family 6, subfamily B, member 3 |
| BTC-6 | OTUD6A | 139562X | 69282627 | 69282627 | Missense_Mutation | G | C | c.253G>C | c.(253-255)p.E85Q | OTU deubiquitinase 6A | |
| BTC-6 | PTPRH | 5794 | 19 | 55715264 | 55715264 | Missense_Mutation | T | C | c.772A>G | c.(772-774)p.T258A | protein tyrosine phosphatase, receptor type, H |
| BTC-6 | RAD50 | 10111 | 5 | 131927660 | 131927660 | Missense_Mutation | T | G | c.1727T>G | c.(1726-17p.L576R | RAD50 homolog (S. cerevisiae) |
| BTC-6 | RB1 | 5925 | 13 | 49039417 | 49039417 | Missense_Mutation | G | C | c.2402G>C | c.(2401-24p.G801A | retinoblastoma 1 |
| BTC-6 | SAMD9L | 219285 | 7 | 92763376 | 92763376 | Missense_Mutation | C | T | c.1909G>A | c.(1909-19p.A637T | sterile alpha motif domain containing 9-like |
| BTC-6 | SERINC5 | 256987 | 5 | 79454696 | 79454696 | Missense_Mutation | C | G | c.949G>C | c.(949-951)p.G317R | serine incorporator 5 |
| BTC-6 | ST6GALNA | 81849 | 1 | 77515950 | 77515950 | Missense_Mutation | T | A | c.679T>A | c.(679-681)p.S227T | ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
| BTC-6 | TMEM47 | 83604X | 34657486 | 34657486 | Missense_Mutation | A | G | c.245T>C | c.(244-246)p.L82P | transmembrane protein 47 | |
| BTC-6 | TRIM41 | 90933 | 5 | 180651595 | 180651595 | Missense_Mutation | T | C | c.596T>C | c.(595-597)p.L199P | tripartite motif containing 41 |
| BTC-6 | WDSUB1 | 151525 | 2 | 160139525 | 160139525 | Missense_Mutation | G | A | c.56C>T | c.(55-57)gCp.A19V | WD repeat, sterile alpha motif and U-box domain containing 1 |
| BTC-6 | ZC3H13 | 23091 | 13 | 46616352 | 46616352 | Missense_Mutation | C | T | c.286G>A | c.(286-288)p.V96M | zinc finger CCCH-type containing 13 |
| BTC-7 | CCDC18 | 343099 | 1 | 93705341 | 93705341 | Nonsense_Mutation | G | T | c.2866G>T | c.(2866-28p.E956* | coiled-coil domain containing 18 |
| BTC-7 | KANSL1 | 284058 | 17 | 44115975 | 44115975 | Nonsense_Mutation | G | A | c.2281C>T | c.(2281-22p.R761* | KAT8 regulatory NSL complex subunit 1 |
| BTC-7 | PLEKHG2 | 64857 | 19 | 39912773 | 39912773 | Nonsense_Mutation | G | T | c.1522G>T | c.(1522-15p.E508* | pleckstrin homology domain containing, family G (with RhoGef domain) member 2 |
| BTC-7 | ZNF546 | 339327 | 19 | 40520465 | 40520465 | Nonsense_Mutation | C | T | c.1288C>T | c.(1288-12p.R430* | zinc finger protein 546 |
| BTC-7 | SI | 6476 | 3 | 164760855 | 164760855 | Nonsense_Mutation | C | A | c.1996G>T | c.(1996-19p.G666* | sucrase-isomaltase (alpha-glucosidase) |
| BTC-7 | SLITRK2 | 84631X | 144904042 | 144904042 | Nonsense_Mutation | T | A | c.99T>A | c.(97-99)tgp.C33* | SLIT and NTRK-like family, member 2 | |
| BTC-7 | CNTNAP5 | 129684 | 2 | 125367471 | 125367471 | Missense_Mutation | C | T | c.1847C>T | c.(1846-184p.P616L | contactin associated protein-like 5 |
| BTC-7 | DNMT3A | 1788 | 2 | 25467461 | 25467461 | Missense_Mutation | T | C | c.946A>G | c.(946-948)p.I316V | DNA (cytosine-5-)-methyltransferase 3 alpha |
| BTC-7 | DSG4 | 147409 | 18 | 28971077 | 28971077 | Missense_Mutation | G | A | c.721G>A | c.(721-723)p.D241N | desmoglein 4 |
| BTC-7 | EPC1 | 80314 | 10 | 32560813 | 32560813 | Missense_Mutation | T | C | c.2038A>G | c.(2038-204p.T680A | enhancer of polycomb homolog 1 (Drosophila) |
| BTC-7 | ESM1 | 11082 | 5 | 54277867 | 54277867 | Missense_Mutation | A | T | c.409T>A | c.(409-411)p.Y137N | endothelial cell-specific molecule 1 |
| BTC-7 | F13A1 | 2162 | 6 | 6266956 | 6266956 | Missense_Mutation | C | A | c.406G>T | c.(406-408)p.V136F | coagulation factor XIII, A1 polypeptide |
| BTC-7 | FCRL3 | 115352 | 1 | 157665154 | 157665154 | Missense_Mutation | G | A | c.1376C>T | c.(1375-13p.A459V | Fc receptor-like 3 |
| BTC-7 | FUT1 | 2523 | 19 | 49254093 | 49254093 | Missense_Mutation | C | A | c.446G>T | c.(445-447)p.W149L | fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) |
| BTC-7 | GLI3 | 2737 | 7 | 42005951 | 42005951 | Missense_Mutation | C | A | c.2720G>T | c.(2719-27p.S907I | GLI family zinc finger 3 |
| BTC-7 | HEATR1 | 55127 | 1 | 236721708 | 236721708 | Missense_Mutation | C | T | c.5033G>A | c.(5032-50p.C1678Y | HEAT repeat containing 1 |
| BTC-7 | KLHL24 | 54800 | 3 | 183368493 | 183368493 | Missense_Mutation | A | G | c.349A>G | c.(349-351)p.M117V | kelch-like family member 24 |
| BTC-7 | KLHL9 | 55958 | 9 | 21333179 | 21333179 | Missense_Mutation | C | G | c.1680G>C | c.(1678-16p.M560I | kelch-like family member 9 |
| BTC-7 | KMT2A | 4297 | 11 | 118392628 | 118392628 | Missense_Mutation | T | A | c.11660T>A | c.(11659-1p.M3887K | lysine (K)-specific methyltransferase 2A |
| BTC-7 | KRAS | 3845 | 12 | 25398284 | 25398284 | Missense_Mutation | C | A | c.35G>T | c.(34-36)gGp.G12V | Kirsten rat sarcoma viral oncogene homolog |
| BTC-7 | LPP | 4026 | 3 | 188326976 | 188326976 | Missense_Mutation | C | T | c.457C>T | c.(457-459)p.P153S | LIM domain containing preferred translocation partner in lipoma |
| BTC-7 | LRP1B | 53353 | 2 | 141707920 | 141707920 | Missense_Mutation | A | G | c.3020T>C | c.(3019-30p.F1007S | low density lipoprotein receptor-related protein 1B |
| BTC-7 | MSH3 | 4437 | 5 | 79950739 | 79950739 | Missense_Mutation | G | A | c.193G>A | c.(193-195)p.A65T | mutS homolog 3 |
| BTC-7 | NCOR1 | 9611 | 17 | 16049747 | 16049747 | Missense_Mutation | T | C | c.1025A>G | c.(1024-10p.Y342C | nuclear receptor corepressor 1 |
| BTC-7 | NIPBL | 25836 | 5 | 37064917 | 37064917 | Missense_Mutation | A | G | c.8338A>G | c.(8338-834p.S2780G | Nipped-B homolog (Drosophila) |
| BTC-7 | NTRK1 | 4914 | 1 | 156851340 | 156851340 | Missense_Mutation | G | A | c.2297G>A | c.(2296-22p.R766Q | neurotrophic tyrosine kinase, receptor, type 1 |
| BTC-7 | PELP1 | 27043 | 17 | 4575146 | 4575146 | Missense_Mutation | C | T | c.3140G>A | c.(3139-314p.G1047E | proline, glutamate and leucine rich protein 1 |
| BTC-7 | RELN | 5649 | 7 | 103183183 | 103183183 | Missense_Mutation | A | T | c.6666T>A | c.(6664-66p.H2222Q | reelin |
| BTC-7 | SPTBN1 | 6711 | 2 | 54871578 | 54871578 | Missense_Mutation | G | A | c.4124G>A | c.(4123-41p.R1375Q | spectrin, beta, non-erythrocytic 1 |
| BTC-7 | SUSD2 | 56241 | 22 | 24583685 | 24583685 | Missense_Mutation | G | T | c.2038G>T | c.(2038-204p.A680S | sushi domain containing 2 |
| BTC-7 | ZNF14 | 7561 | 19 | 19822422 | 19822422 | Missense_Mutation | C | A | c.1668G>T | c.(1666-16p.E556D | zinc finger protein 14 |
| BTC-8 | APC | 324 | 5 | 112175952 | 112175952 | Frame_Shift_Del | A | - | c.4661delA | c.(4660-46p.E1554fs | adenomatous polyposis coli |
| BTC-8 | LMO7 | 4008 | 13 | 76408475 | 76408475 | Nonsense_Mutation | C | T | c.2479C>T | c.(2479-24p.Q827* | LIM domain 7 |
| BTC-8 | TP53 | 7157 | 17 | 7574003 | 7574003 | Nonsense_Mutation | G | A | c.1024C>T | c.(1024-10p.R342* | tumor protein p53 |
| BTC-8 | DUXA | 503835 | 19 | 57670637 | 57670637 | Nonsense_Mutation | G | A | c.190C>T | c.(190-192)p.Q64* | double homeobox A |
| BTC-8 | MMS22L | 253714 | 6 | 97676947 | 97676947 | Nonsense_Mutation | C | T | c.1862G>A | c.(1861-18p.W621* | MMS22-like, DNA repair protein |
| BTC-8 | KIF15 | 56992 | 3 | 44843467 | 44843467 | Splice_Site | G | C | c.e13+1 | kinesin family member 15 | |
| BTC-8 | ABCA9 | 10350 | 17 | 67025361 | 67025361 | Missense_Mutation | T | G | c.1453A>C | c.(1453-14p.N485H | ATP-binding cassette, sub-family A (ABC1), member 9 |
| BTC-8 | ACSS1 | 84532 | 20 | 25004233 | 25004233 | Missense_Mutation | C | T | c.676G>A | c.(676-678)p.G226R | acyl-CoA synthetase short-chain family member 1 |
| BTC-8 | ADAMTS6 | 11174 | 5 | 64595872 | 64595872 | Missense_Mutation | G | A | c.1310C>T | c.(1309-13p.A437V | ADAM metallopeptidase with thrombospondin type 1 motif, 6 |
| BTC-8 | ADORA1 | 134 | 1 | 203098180 | 203098180 | Missense_Mutation | A | G | c.211A>G | c.(211-213)p.I71V | adenosine A1 receptor |
| BTC-8 | AOC3 | 8639 | 17 | 41006705 | 41006705 | Missense_Mutation | C | T | c.1841C>T | c.(1840-184p.P614L | amine oxidase, copper containing 3 |
| BTC-8 | CPZ | 8532 | 4 | 8603105 | 8603105 | Missense_Mutation | G | A | c.344G>A | c.(343-345)p.R115Q | carboxypeptidase Z |
| BTC-8 | DACT3 | 147906 | 19 | 47151783 | 47151783 | Missense_Mutation | G | C | c.1846C>G | c.(1846-184p.L616V | dishevelled-binding antagonist of beta-catenin 3 |
| BTC-8 | ENPP2 | 5168 | 8 | 120577135 | 120577135 | Missense_Mutation | A | C | c.1097T>G | c.(1096-10p.V366G | ectonucleotide pyrophosphatase/phosphodiesterase 2 |
| BTC-8 | INO80D | 54891 | 2 | 206870153 | 206870153 | Missense_Mutation | C | A | c.2023G>T | c.(2023-20p.A675S | INO80 complex subunit D |
| BTC-8 | IRX3 | 79191 | 16 | 54319378 | 54319378 | Missense_Mutation | T | C | c.415A>G | c.(415-417)p.T139A | iroquois homeobox 3 |
| BTC-8 | KRAS | 3845 | 12 | 25398281 | 25398281 | Missense_Mutation | C | T | c.38G>A | c.(37-39)gGp.G13D | Kirsten rat sarcoma viral oncogene homolog |
| BTC-8 | KRT73 | 319101 | 12 | 53004589 | 53004589 | Missense_Mutation | C | T | c.1141G>A | c.(1141-114p.A381T | keratin 73 |
| BTC-8 | LAX1 | 54900 | 1 | 203743063 | 203743063 | Missense_Mutation | G | A | c.451G>A | c.(451-453)p.A151T | lymphocyte transmembrane adaptor 1 |
| BTC-8 | MATN4 | 8785 | 20 | 43927089 | 43927089 | Missense_Mutation | G | A | c.1147C>T | c.(1147-114p.R383W | matrilin 4 |
| BTC-8 | NAB1 | 4664 | 2 | 191524551 | 191524551 | Missense_Mutation | G | A | c.649G>A | c.(649-651)p.E217K | NGFI-A binding protein 1 (EGR1 binding protein 1) |
| BTC-8 | NPR3 | 4883 | 5 | 32712527 | 32712527 | Missense_Mutation | C | A | c.645C>A | c.(643-645)p.F215L | natriuretic peptide receptor 3 |
| BTC-8 | OTOG | 340990 | 11 | 17655819 | 17655819 | Missense_Mutation | A | G | c.7288A>G | c.(7288-72p.T2430A | otogelin |
| BTC-8 | PCDHGB6 | 56100 | 5 | 140788665 | 140788665 | Missense_Mutation | G | A | c.896G>A | c.(895-897)p.G299D | protocadherin gamma subfamily B, 6 |
| BTC-8 | POLA1 | 5422X | 24906154 | 24906154 | Missense_Mutation | G | A | c.4061G>A | c.(4060-40p.R1354H | polymerase (DNA directed), alpha 1, catalytic subunit | |
| BTC-8 | RALGAPA1 | 253959 | 14 | 36096402 | 36096402 | Missense_Mutation | T | A | c.5272A>T | c.(5272-52p.M1758L | Ral GTPase activating protein, alpha subunit 1 (catalytic) |
| BTC-8 | RIPK2 | 8767 | 8 | 90792331 | 90792331 | Missense_Mutation | G | C | c.882G>C | c.(880-882)p.L294F | receptor-interacting serine-threonine kinase 2 |
| BTC-8 | ROBO1 | 6091 | 3 | 78710287 | 78710287 | Missense_Mutation | A | G | c.2213T>C | c.(2212-22p.I738T | roundabout, axon guidance receptor, homolog 1 (Drosophila) |
| BTC-8 | ROBO2 | 6092 | 3 | 77657029 | 77657029 | Missense_Mutation | C | A | c.3217C>A | c.(3217-32p.P1073T | roundabout, axon guidance receptor, homolog 2 (Drosophila) |
| BTC-8 | SHISA8 | 440829 | 22 | 42310285 | 42310285 | Missense_Mutation | C | A | c.286G>T | c.(286-288)p.A96S | shisa family member 8 |
| BTC-8 | SMARCA2 | 6595 | 9 | 2104152 | 2104152 | Missense_Mutation | T | C | c.3275T>C | c.(3274-32p.L1092P | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
| BTC-8 | SSTR1 | 6751 | 14 | 38678956 | 38678956 | Missense_Mutation | G | A | c.362G>A | c.(361-363)p.R121H | somatostatin receptor 1 |
| BTC-8 | SYN3 | 8224 | 22 | 33265027 | 33265027 | Missense_Mutation | C | T | c.547G>A | c.(547-549)p.G183S | synapsin III |
| BTC-8 | TROVE2 | 6738 | 1 | 193046115 | 193046115 | Missense_Mutation | C | G | c.1021C>G | c.(1021-10p.L341V | TROVE domain family, member 2 |
| BTC-8 | USH2A | 7399 | 1 | 215844423 | 215844423 | Missense_Mutation | C | T | c.14024G>A | c.(14023-14p.R4675K | Usher syndrome 2A (autosomal recessive, mild) |
| BTC-8 | USH2A | 7399 | 1 | 216062042 | 216062042 | Missense_Mutation | G | C | c.7949C>G | c.(7948-79p.P2650R | Usher syndrome 2A (autosomal recessive, mild) |
| BTC-8 | XCR1 | 2829 | 3 | 46062623 | 46062623 | Missense_Mutation | G | A | c.817C>T | c.(817-819)p.R273C | chemokine (C motif) receptor 1 |
| BTC-8 | ZSCAN20 | 7579 | 1 | 33960845 | 33960845 | Missense_Mutation | C | A | c.2901C>A | c.(2899-29p.F967L | zinc finger and SCAN domain containing 20 |
Acknowledgments
This work was supported by a National Cancer Center Research Grant 1510690 to W.G. Lee.
Footnotes
Conflicts of Interest
No potential conflicts of interest relevant to this article was reported.
Authors’ contribution
Conceptualization: KAY, SMW, WJL
Data curation: KAY, SMW
Formal analysis: KAY, SMW, YHK, SYK, WJL
Funding acquisition: SMW, WJL
Investigation: KAY, SMW, SSH, SJP, WJL
Methodology: KAY, SMW, YHK, SYK
Project administration: KAY, SMW, WJL
Software: KAY
Supervision: KAY, SMW, SSH, SJP, WJL
Validation: KAY, SMW, YHK, SYK, WJL
Visualization: K.-A,Y., S.M.W.
Writing – original draft: K.-A,Y., S.M.W
Writing – review and editing: KAY, SMW, YHK, SYK, SSH, SJP, WJL
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
Supplementary Table 1.
Coverage Information
| Sample | X1 | X5 | X10 | X15 | X20 | X25 | X30 | X50 | Total bases aligned(bases) | Mean coverage depth |
|---|---|---|---|---|---|---|---|---|---|---|
| BTC_1N | 99.96% | 99.77% | 99.22% | 98.14% | 96.33% | 93.69% | 90.19% | 69.94% | 6,034,974,927 | 80.99 |
| BTC_1T | 99.97% | 99.90% | 99.71% | 99.38% | 98.84% | 98.03% | 96.92% | 89.02% | 9,863,779,665 | 132.38 |
| BTC_2N | 99.86% | 99.66% | 99.15% | 98.17% | 96.48% | 93.95% | 90.45% | 69.62% | 5,978,637,815 | 80.24 |
| BTC_2T | 99.88% | 99.79% | 99.63% | 99.38% | 99.00% | 98.46% | 97.71% | 92.10% | 11,086,728,430 | 148.79 |
| BTC_4N | 99.97% | 99.80% | 99.30% | 98.32% | 96.67% | 94.26% | 91.07% | 72.14% | 6,345,622,329 | 85.16 |
| BTC_4T | 99.98% | 99.90% | 99.72% | 99.43% | 98.98% | 98.33% | 97.44% | 91.14% | 10,760,737,151 | 144.41 |
| BTC_5N | 99.86% | 99.62% | 98.95% | 97.66% | 95.53% | 92.44% | 88.40% | 66.57% | 5,823,253,443 | 78.15 |
| BTC_5T | 99.87% | 99.78% | 99.57% | 99.21% | 98.65% | 97.88% | 96.83% | 89.50% | 10,599,020,827 | 142.24 |
| BTC_6N | 99.87% | 99.67% | 99.16% | 98.14% | 96.43% | 93.80% | 90.22% | 69.15% | 5,968,127,744 | 80.09 |
| BTC_6T | 99.88% | 99.79% | 99.63% | 99.37% | 98.99% | 98.43% | 97.66% | 91.94% | 10,923,830,027 | 146.60 |
| BTC_7N | 99.97% | 99.78% | 99.25% | 98.21% | 96.48% | 93.96% | 90.63% | 71.11% | 6,186,543,991 | 83.03 |
| BTC_7T | 99.98% | 99.88% | 99.66% | 99.27% | 98.66% | 97.75% | 96.48% | 87.79% | 9,956,458,889 | 133.62 |
| BTC_8N | 99.97% | 99.76% | 99.17% | 97.97% | 95.96% | 93.09% | 89.35% | 68.81% | 5,998,051,912 | 80.50 |
| BTC_8T | 99.98% | 99.89% | 99.68% | 99.34% | 98.82% | 98.06% | 97.01% | 89.49% | 10,131,605,777 | 135.97 |
Supplementary Table 2.
Detailed information on total somatic mutations
| Patient ID | Hugo_Sym | Entrez_Gen | Chromoso | Start_position | End_position | Variant_Classification | Reference_ | Tumor_Seq | cDNA_Change | Codon_ChaProtein_Ch | Description |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BTC-1 | APC | 324 | 5 | 112174759 | 112174760 | Frame_Shift_Del | AG | - | c.3468_3469delAG | c.(3466-34p.EE1156fs | adenomatous polyposis coli |
| BTC-1 | KRTAP19-6 | 337973 | 21 | 31914024 | 31914024 | Nonsense_Mutation | G | T | c.129C>A | c.(127-129)p.C43* | keratin associated protein 19-6 |
| BTC-1 | PABPC4L | 132430 | 4 | 135121319 | 135121319 | Nonsense_Mutation | G | A | c.856C>T | c.(856-858)p.R286* | poly(A) binding protein, cytoplasmic 4-like |
| BTC-1 | APC | 324 | 5 | 112175951 | 112175951 | Nonsense_Mutation | G | T | c.4660G>T | c.(4660-46p.E1554* | adenomatous polyposis coli |
| BTC-1 | C6orf222 | 389384 | 6 | 36290159 | 36290159 | Nonsense_Mutation | G | C | c.1532C>G | c.(1531-15p.S511* | chromosome 6 open reading frame 222 |
| BTC-1 | ABCA1 | 19 | 9 | 107553269 | 107553269 | Nonsense_Mutation | G | C | c.5861C>G | c.(5860-58p.S1954* | ATP-binding cassette, sub-family A (ABC1), member 1 |
| BTC-1 | AMER1 | 139285X | 63412530 | 63412530 | Nonsense_Mutation | G | A | c.637C>T | c.(637-639)p.Q213* | APC membrane recruitment protein 1 | |
| BTC-1 | MFAP2 | 4237 | 1 | 17302995 | 17302995 | Splice_Site | C | A | c.e5+1 | microfibrillar-associated protein 2 | |
| BTC-1 | HIF3A | 64344 | 19 | 46825222 | 46825222 | Splice_Site | C | T | c.1334C>T | c.(1333-13p.S445L | hypoxia inducible factor 3, alpha subunit |
| BTC-1 | MAP3K13 | 9175 | 3 | 185155234 | 185155234 | Splice_Site | G | C | c.e3-1 | mitogen-activated protein kinase kinase kinase 13 | |
| BTC-1 | DAB2IP | 153090 | 9 | 124329507 | 124329507 | Splice_Site | G | A | c.40G>A | c.(40-42)Gap.E14K | DAB2 interacting protein |
| BTC-1 | ABCC2 | 1244 | 10 | 101591752 | 101591752 | Missense_Mutation | C | T | c.3122C>T | c.(3121-31p.A1041V | ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |
| BTC-1 | ACE | 1636 | 17 | 61570945 | 61570945 | Missense_Mutation | G | A | c.1339G>A | c.(1339-134p.V447M | angiotensin I converting enzyme |
| BTC-1 | ACTN2 | 88 | 1 | 236899007 | 236899007 | Missense_Mutation | C | T | c.770C>T | c.(769-771)p.A257V | actinin, alpha 2 |
| BTC-1 | ACTN4 | 81 | 19 | 39207832 | 39207832 | Missense_Mutation | G | A | c.1019G>A | c.(1018-10p.R340H | actinin, alpha 4 |
| BTC-1 | ACVR1B | 91 | 12 | 52379016 | 52379016 | Missense_Mutation | C | A | c.864C>A | c.(862-864)p.N288K | activin A receptor, type IB |
| BTC-1 | ADCY5 | 111 | 3 | 123166420 | 123166420 | Missense_Mutation | C | T | c.973G>A | c.(973-975)p.A325T | adenylate cyclase 5 |
| BTC-1 | ADCY8 | 114 | 8 | 131949376 | 131949376 | Missense_Mutation | C | T | c.1424G>A | c.(1423-14p.R475H | adenylate cyclase 8 (brain) |
| BTC-1 | ANO3 | 63982 | 11 | 26463533 | 26463533 | Missense_Mutation | T | C | c.115T>C | c.(115-117)p.C39R | anoctamin 3 |
| BTC-1 | APC2 | 10297 | 19 | 1457029 | 1457029 | Missense_Mutation | G | A | c.994G>A | c.(994-996)p.A332T | adenomatosis polyposis coli 2 |
| BTC-1 | AQPEP | 0 | 5 | 115298621 | 115298621 | Missense_Mutation | G | A | c.307G>A | c.(307-309)p.V103M | |
| BTC-1 | AUTS2 | 26053 | 7 | 69364311 | 69364311 | Missense_Mutation | C | T | c.349C>T | c.(349-351)p.R117C | autism susceptibility candidate 2 |
| BTC-1 | C11orf63 | 79864 | 11 | 122775018 | 122775018 | Missense_Mutation | C | T | c.730C>T | c.(730-732)p.R244C | chromosome 11 open reading frame 63 |
| BTC-1 | C5orf42 | 65250 | 5 | 37153858 | 37153858 | Missense_Mutation | T | A | c.8195A>T | c.(8194-81p.D2732V | chromosome 5 open reading frame 42 |
| BTC-1 | CDH2 | 1000 | 18 | 25572711 | 25572711 | Missense_Mutation | C | T | c.1159G>A | c.(1159-11p.A387T | cadherin 2, type 1, N-cadherin (neuronal) |
| BTC-1 | CHST9 | 83539 | 18 | 24628462 | 24628462 | Missense_Mutation | C | T | c.127G>A | c.(127-129)p.V43M | carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 |
| BTC-1 | CYP11B1 | 1584 | 8 | 143956558 | 143956558 | Missense_Mutation | C | T | c.1426G>A | c.(1426-14p.V476M | cytochrome P450, family 11, subfamily B, polypeptide 1 |
| BTC-1 | DNAH10 | 196385 | 12 | 124341718 | 124341718 | Missense_Mutation | G | A | c.6200G>A | c.(6199-62p.R2067H | dynein, axonemal, heavy chain 10 |
| BTC-1 | DSCAM | 1826 | 21 | 41559851 | 41559851 | Missense_Mutation | C | T | c.2617G>A | c.(2617-26p.E873K | Down syndrome cell adhesion molecule |
| BTC-1 | ELF3 | 1999 | 1 | 201983140 | 201983140 | Missense_Mutation | G | A | c.989G>A | c.(988-990)p.S330N | E74-like factor 3 (ets domain transcription factor, epithelial-specific ) |
| BTC-1 | FGD3 | 89846 | 9 | 95738639 | 95738639 | Missense_Mutation | C | T | c.101C>T | c.(100-102)p.A34V | FYVE, RhoGEF and PH domain containing 3 |
| BTC-1 | FUBP3 | 8939 | 9 | 133493210 | 133493210 | Missense_Mutation | G | A | c.594G>A | c.(592-594)p.M198I | far upstream element (FUSE) binding protein 3 |
| BTC-1 | HAND1 | 9421 | 5 | 153855452 | 153855452 | Missense_Mutation | G | T | c.562C>A | c.(562-564)p.P188T | heart and neural crest derivatives expressed 1 |
| BTC-1 | KCNS2 | 3788 | 8 | 99440299 | 99440299 | Missense_Mutation | G | A | c.92G>A | c.(91-93)cGp.R31H | potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 |
| BTC-1 | KIAA1429 | 25962 | 8 | 95503865 | 95503865 | Missense_Mutation | C | G | c.5081G>C | c.(5080-50p.R1694T | KIAA1429 |
| BTC-1 | KRTAP19-1 | 337882 | 21 | 31852374 | 31852374 | Missense_Mutation | C | T | c.263G>A | c.(262-264)p.G88D | keratin associated protein 19-1 |
| BTC-1 | LRP1B | 53353 | 2 | 141004693 | 141004693 | Missense_Mutation | G | T | c.13286C>A | c.(13285-1p.P4429Q | low density lipoprotein receptor-related protein 1B |
| BTC-1 | LRRK2 | 120892 | 12 | 40689336 | 40689336 | Missense_Mutation | G | T | c.2986G>T | c.(2986-29p.D996Y | leucine-rich repeat kinase 2 |
| BTC-1 | MAP2K1 | 5604 | 15 | 66727455 | 66727455 | Missense_Mutation | G | C | c.171G>C | c.(169-171)p.K57N | mitogen-activated protein kinase kinase 1 |
| BTC-1 | MBTD1 | 54799 | 17 | 49296318 | 49296318 | Missense_Mutation | A | C | c.376T>G | c.(376-378)p.L126V | mbt domain containing 1 |
| BTC-1 | MUC19 | 283463 | 12 | 40820354 | 40820354 | Missense_Mutation | G | A | c.332G>A | c.(331-333)p.R111H | mucin 19, oligomeric |
| BTC-1 | MYLK2 | 85366 | 20 | 30419645 | 30419645 | Missense_Mutation | G | A | c.1564G>A | c.(1564-15p.V522I | myosin light chain kinase 2 |
| BTC-1 | PCDH17 | 27253 | 13 | 58207860 | 58207860 | Missense_Mutation | G | A | c.1180G>A | c.(1180-11p.G394R | protocadherin 17 |
| BTC-1 | PLIN4 | 729359 | 19 | 4510530 | 4510530 | Missense_Mutation | G | A | c.3400C>T | c.(3400-34p.R1134C | perilipin 4 |
| BTC-1 | PRRC2B | 84726 | 9 | 134322013 | 134322013 | Missense_Mutation | A | G | c.839A>G | c.(838-840)p.D280G | proline-rich coiled-coil 2B |
| BTC-1 | RBM15 | 64783 | 1 | 110883546 | 110883546 | Missense_Mutation | T | G | c.1519T>G | c.(1519-15p.W507G | RNA binding motif protein 15 |
| BTC-1 | RP1-139D8 | 0 | 6 | 42123292 | 42123292 | Missense_Mutation | G | T | c.14G>T | c.(13-15)aGp.S5I | |
| BTC-1 | SDK1 | 221935 | 7 | 4273010 | 4273010 | Missense_Mutation | C | T | c.5891C>T | c.(5890-58p.A1964V | sidekick cell adhesion molecule 1 |
| BTC-1 | SPRY2 | 10253 | 13 | 80911584 | 80911584 | Missense_Mutation | G | C | c.257C>G | c.(256-258)p.P86R | sprouty homolog 2 (Drosophila) |
| BTC-1 | ST6GALNA | 81849 | 1 | 77509964 | 77509964 | Missense_Mutation | C | A | c.337C>A | c.(337-339)p.Q113K | ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
| BTC-1 | SYT3 | 84258 | 19 | 51135883 | 51135883 | Missense_Mutation | C | T | c.334G>A | c.(334-336)p.G112R | synaptotagmin III |
| BTC-1 | TADA2A | 6871 | 17 | 35837062 | 35837062 | Missense_Mutation | G | C | c.1307G>C | c.(1306-13p.R436T | transcriptional adaptor 2A |
| BTC-1 | TGM2 | 7052 | 20 | 36793594 | 36793594 | Missense_Mutation | C | T | c.7G>A | c.(7-9)Gagp.E3K | transglutaminase 2 |
| BTC-1 | TMEM184B | 25829 | 22 | 38643871 | 38643871 | Missense_Mutation | T | C | c.97A>G | c.(97-99)Acp.T33A | transmembrane protein 184B |
| BTC-1 | TRPC1 | 7220 | 3 | 142499703 | 142499703 | Missense_Mutation | A | T | c.792A>T | c.(790-792)p.Q264H | transient receptor potential cation channel, subfamily C, member 1 |
| BTC-1 | TSHZ3 | 57616 | 19 | 31770589 | 31770589 | Missense_Mutation | G | C | c.110C>G | c.(109-111)p.A37G | teashirt zinc finger homeobox 3 |
| BTC-1 | TSPAN14 | 81619 | 10 | 82271948 | 82271948 | Missense_Mutation | T | G | c.499T>G | c.(499-501)p.Y167D | tetraspanin 14 |
| BTC-1 | ZFR | 51663 | 5 | 32395347 | 32395347 | Missense_Mutation | C | T | c.1897G>A | c.(1897-18p.E633K | zinc finger RNA binding protein |
| BTC-1 | ZFYVE26 | 23503 | 14 | 68264958 | 68264958 | Missense_Mutation | C | A | c.2021G>T | c.(2020-20p.G674V | zinc finger, FYVE domain containing 26 |
| BTC-2 | EPHA2 | 1969 | 1 | 16464447 | 16464447 | Frame_Shift_Del | G | - | c.1213delC | c.(1213-12p.H405fs | EPH receptor A2 |
| BTC-2 | LGI4 | 163175 | 19 | 35617610 | 35617610 | Nonsense_Mutation | C | T | c.863G>A | c.(862-864)p.W288* | leucine-rich repeat LGI family, member 4 |
| BTC-2 | EPHA2 | 1969 | 1 | 16456720 | 16456720 | Splice_Site | C | T | c.e15+1 | EPH receptor A2 | |
| BTC-2 | C17orf97 | 400566 | 17 | 260315 | 260315 | Missense_Mutation | G | T | c.182G>T | c.(181-183)p.G61V | chromosome 17 open reading frame 97 |
| BTC-2 | CAMK2N1 | 55450 | 1 | 20810156 | 20810156 | Missense_Mutation | G | A | c.223C>T | c.(223-225)p.P75S | calcium/calmodulin-dependent protein kinase II inhibitor 1 |
| BTC-2 | CNBD1 | 168975 | 8 | 88249206 | 88249206 | Missense_Mutation | G | A | c.637G>A | c.(637-639)p.V213M | cyclic nucleotide binding domain containing 1 |
| BTC-2 | COL14A1 | 7373 | 8 | 121292323 | 121292323 | Missense_Mutation | G | A | c.3631G>A | c.(3631-36p.E1211K | collagen, type XIV, alpha 1 |
| BTC-2 | FBN3 | 84467 | 19 | 8201283 | 8201283 | Missense_Mutation | C | T | c.1334G>A | c.(1333-13p.G445D | fibrillin 3 |
| BTC-2 | FIGN | 55137 | 2 | 164467285 | 164467285 | Missense_Mutation | C | A | c.1057G>T | c.(1057-10p.D353Y | fidgetin |
| BTC-2 | FLNB | 2317 | 3 | 58118580 | 58118580 | Missense_Mutation | A | G | c.4529A>G | c.(4528-45p.H1510R | filamin B, beta |
| BTC-2 | INO80D | 54891 | 2 | 206884534 | 206884534 | Missense_Mutation | G | A | c.1334C>T | c.(1333-13p.A445V | INO80 complex subunit D |
| BTC-2 | INTS1 | 26173 | 7 | 1544069 | 1544069 | Missense_Mutation | C | G | c.233G>C | c.(232-234)p.C78S | integrator complex subunit 1 |
| BTC-2 | KCNIP1 | 30820 | 5 | 170145809 | 170145809 | Missense_Mutation | G | A | c.109G>A | c.(109-111)p.E37K | Kv channel interacting protein 1 |
| BTC-2 | KIAA1549 | 57670 | 7 | 138603864 | 138603864 | Missense_Mutation | G | A | c.508C>T | c.(508-510)p.R170W | KIAA1549 |
| BTC-2 | LGALS9 | 3965 | 17 | 25975970 | 25975970 | Missense_Mutation | G | A | c.934G>A | c.(934-936)p.V312M | lectin, galactoside-binding, soluble, 9 |
| BTC-2 | PLEKHG1 | 57480 | 6 | 151152904 | 151152904 | Missense_Mutation | G | A | c.2657G>A | c.(2656-26p.R886H | pleckstrin homology domain containing, family G (with RhoGef domain) member 1 |
| BTC-2 | PNCK | 139728X | 152937421 | 152937421 | Missense_Mutation | C | G | c.328G>C | c.(328-330)p.E110Q | pregnancy up-regulated nonubiquitous CaM kinase | |
| BTC-2 | PPDPF | 79144 | 20 | 62152924 | 62152924 | Missense_Mutation | G | A | c.115G>A | c.(115-117)p.A39T | pancreatic progenitor cell differentiation and proliferation factor |
| BTC-2 | PROKR2 | 128674 | 20 | 5282783 | 5282783 | Missense_Mutation | C | T | c.1058G>A | c.(1057-10p.R353H | prokineticin receptor 2 |
| BTC-2 | RP11-429E | 0 | 20 | 60294088 | 60294088 | Missense_Mutation | G | A | c.139C>T | c.(139-141)p.L47F | |
| BTC-2 | SCN5A | 6331 | 3 | 38645514 | 38645514 | Missense_Mutation | C | T | c.1579G>A | c.(1579-15p.G527R | sodium channel, voltage-gated, type V, alpha subunit |
| BTC-2 | SLC35F1 | 222553 | 6 | 118556702 | 118556702 | Missense_Mutation | G | A | c.380G>A | c.(379-381)p.R127Q | solute carrier family 35, member F1 |
| BTC-2 | SLC9A6 | 10479X | 135067950 | 135067950 | Missense_Mutation | C | T | c.289C>T | c.(289-291)p.R97C | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | |
| BTC-2 | SPARC | 6678 | 5 | 151047056 | 151047056 | Missense_Mutation | T | C | c.557A>G | c.(556-558)p.N186S | secreted protein, acidic, cysteine-rich (osteonectin) |
| BTC-2 | TLL2 | 7093 | 10 | 98144434 | 98144434 | Missense_Mutation | C | G | c.2104G>C | c.(2104-21p.V702L | tolloid-like 2 |
| BTC-2 | TRIM58 | 25893 | 1 | 248028097 | 248028097 | Missense_Mutation | C | T | c.607C>T | c.(607-609)p.R203W | tripartite motif containing 58 |
| BTC-2 | TSPAN16 | 26526 | 19 | 11408947 | 11408947 | Missense_Mutation | A | G | c.199A>G | c.(199-201)p.I67V | tetraspanin 16 |
| BTC-2 | TSSK2 | 23617 | 22 | 19119034 | 19119034 | Missense_Mutation | A | C | c.122A>C | c.(121-123)p.K41T | testis-specific serine kinase 2 |
| BTC-2 | VAV2 | 7410 | 9 | 136635595 | 136635595 | Missense_Mutation | G | A | c.2222C>T | c.(2221-22p.S741L | vav 2 guanine nucleotide exchange factor |
| BTC-2 | ZC2HC1B | 153918 | 6 | 144224199 | 144224199 | Missense_Mutation | C | T | c.508C>T | c.(508-510)p.P170S | zinc finger, C2HC-type containing 1B |
| BTC-2 | ZFP69B | 65243 | 1 | 40928270 | 40928270 | Missense_Mutation | G | A | c.614G>A | c.(613-615)p.G205D | ZFP69 zinc finger protein B |
| BTC-2 | ZNF423 | 23090 | 16 | 49669726 | 49669726 | Missense_Mutation | C | T | c.3337G>A | c.(3337-33p.A1113T | zinc finger protein 423 |
| BTC-4 | ARID1A | 8289 | 1 | 27023831 | 27023831 | Frame_Shift_Del | G | - | c.937delG | c.(937-939)p.G314fs | AT rich interactive domain 1A (SWI-like) |
| BTC-4 | TULP1 | 7287 | 6 | 35480415 | 35480415 | Splice_Site | C | G | c.e2+1 | tubby like protein 1 | |
| BTC-4 | ACOXL | 55289 | 2 | 111850501 | 111850501 | Missense_Mutation | T | A | c.1590T>A | c.(1588-15p.H530Q | acyl-CoA oxidase-like |
| BTC-4 | CACNA1H | 8912 | 16 | 1270626 | 1270626 | Missense_Mutation | C | A | c.6676C>A | c.(6676-66p.L2226M | calcium channel, voltage-dependent, T type, alpha 1H subunit |
| BTC-4 | CATSPERB | 79820 | 14 | 92174496 | 92174496 | Missense_Mutation | T | A | c.455A>T | c.(454-456)p.D152V | catsper channel auxiliary subunit beta |
| BTC-4 | CDKN2A | 1029 | 9 | 21971035 | 21971035 | Missense_Mutation | T | C | c.170A>G | c.(169-171)p.D57G | cyclin-dependent kinase inhibitor 2A |
| BTC-4 | CES3 | 23491 | 16 | 67006620 | 67006620 | Missense_Mutation | G | A | c.408G>A | c.(406-408)p.M136I | carboxylesterase 3 |
| BTC-4 | CLCNKA | 1187 | 1 | 16349137 | 16349137 | Missense_Mutation | G | A | c.23G>A | c.(22-24)cGp.R8H | chloride channel, voltage-sensitive Ka |
| BTC-4 | COL22A1 | 169044 | 8 | 139890232 | 139890232 | Missense_Mutation | C | T | c.419G>A | c.(418-420)p.R140H | collagen, type XXII, alpha 1 |
| BTC-4 | CRISPLD1 | 83690 | 8 | 75941665 | 75941665 | Missense_Mutation | G | A | c.1364G>A | c.(1363-13p.R455Q | cysteine-rich secretory protein LCCL domain containing 1 |
| BTC-4 | DAW1 | 164781 | 2 | 228767727 | 228767727 | Missense_Mutation | T | C | c.550T>C | c.(550-552)p.S184P | dynein assembly factor with WDR repeat domains 1 |
| BTC-4 | DYSF | 8291 | 2 | 71797023 | 71797023 | Missense_Mutation | G | A | c.2938G>A | c.(2938-294p.G980R | dysferlin |
| BTC-4 | ELN | 2006 | 7 | 73461047 | 73461047 | Missense_Mutation | C | T | c.593C>T | c.(592-594)p.P198L | elastin |
| BTC-4 | FAM135B | 51059 | 8 | 139165339 | 139165339 | Missense_Mutation | A | G | c.1379T>C | c.(1378-13p.L460P | family with sequence similarity 135, member B |
| BTC-4 | FAM208B | 54906 | 10 | 5803432 | 5803432 | Missense_Mutation | C | A | c.7172C>A | c.(7171-71p.T2391K | family with sequence similarity 208, member B |
| BTC-4 | GPR65 | 8477 | 14 | 88478153 | 88478153 | Missense_Mutation | G | A | c.962G>A | c.(961-963)p.R321H | G protein-coupled receptor 65 |
| BTC-4 | GUCY1A3 | 2982 | 4 | 156643206 | 156643206 | Missense_Mutation | A | T | c.1733A>T | c.(1732-17p.H578L | guanylate cyclase 1, soluble, alpha 3 |
| BTC-4 | HID1 | 283987 | 17 | 72959068 | 72959068 | Missense_Mutation | T | A | c.496A>T | c.(496-498)p.S166C | HID1 domain containing |
| BTC-4 | HIP1 | 3092 | 7 | 75189111 | 75189111 | Missense_Mutation | G | A | c.1300C>T | c.(1300-13p.R434W | huntingtin interacting protein 1 |
| BTC-4 | IRF3 | 3661 | 19 | 50167939 | 50167939 | Missense_Mutation | T | C | c.157A>G | c.(157-159)p.I53V | interferon regulatory factor 3 |
| BTC-4 | KCNB1 | 3745 | 20 | 48098906 | 48098906 | Missense_Mutation | C | T | c.112G>A | c.(112-114)p.G38R | potassium voltage-gated channel, Shab-related subfamily, member 1 |
| BTC-4 | KCNT1 | 57582 | 9 | 138664603 | 138664603 | Missense_Mutation | C | T | c.2051C>T | c.(2050-20p.T684M | potassium channel, subfamily T, member 1 |
| BTC-4 | LLGL1 | 3996 | 17 | 18143990 | 18143990 | Missense_Mutation | C | T | c.2305C>T | c.(2305-23p.R769W | lethal giant larvae homolog 1 (Drosophila) |
| BTC-4 | LPHN1 | 22859 | 19 | 14294398 | 14294398 | Missense_Mutation | G | A | c.17C>T | c.(16-18)gCp.A6V | latrophilin 1 |
| BTC-4 | MARS | 4141 | 12 | 57906626 | 57906626 | Missense_Mutation | A | T | c.1846A>T | c.(1846-184p.I616F | methionyl-tRNA synthetase |
| BTC-4 | MBTPS1 | 8720 | 16 | 84093019 | 84093019 | Missense_Mutation | G | A | c.2719C>T | c.(2719-27p.R907W | membrane-bound transcription factor peptidase, site 1 |
| BTC-4 | PDC | 5132 | 1 | 186413572 | 186413572 | Missense_Mutation | G | A | c.280C>T | c.(280-282)p.R94C | phosducin |
| BTC-4 | PTTG1IP | 754 | 21 | 46285352 | 46285352 | Missense_Mutation | C | G | c.126G>C | c.(124-126)p.Q42H | pituitary tumor-transforming 1 interacting protein |
| BTC-4 | RBBP6 | 5930 | 16 | 24581304 | 24581304 | Missense_Mutation | A | T | c.3293A>T | c.(3292-32p.E1098V | retinoblastoma binding protein 6 |
| BTC-4 | RBBP7 | 5931X | 16871823 | 16871823 | Missense_Mutation | T | A | c.872A>T | c.(871-873)p.D291V | retinoblastoma binding protein 7 | |
| BTC-4 | RDH10 | 157506 | 8 | 74234976 | 74234976 | Missense_Mutation | A | G | c.833A>G | c.(832-834)p.K278R | retinol dehydrogenase 10 (all-trans) |
| BTC-4 | RFX8 | 731220 | 2 | 102018971 | 102018971 | Missense_Mutation | C | T | c.1172G>A | c.(1171-11p.R391Q | RFX family member 8, lacking RFX DNA binding domain |
| BTC-4 | SEMA6D | 80031 | 15 | 48058143 | 48058143 | Missense_Mutation | C | T | c.1505C>T | c.(1504-15p.A502V | sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D |
| BTC-4 | SLC6A17 | 388662 | 1 | 110734682 | 110734682 | Missense_Mutation | C | A | c.953C>A | c.(952-954)p.A318D | solute carrier family 6 (neutral amino acid transporter), member 17 |
| BTC-4 | TMEM205 | 374882 | 19 | 11455971 | 11455971 | Missense_Mutation | G | A | c.221C>T | c.(220-222)p.S74L | transmembrane protein 205 |
| BTC-4 | TRIM4 | 89122 | 7 | 99506284 | 99506284 | Missense_Mutation | T | C | c.719A>G | c.(718-720)p.N240S | tripartite motif containing 4 |
| BTC-5 | HMCN1 | 83872 | 1 | 186057081 | 186057084 | Frame_Shift_Del | GTAT | - | c.9381_9384delGT | c.(9379-93p.QY3127fs | hemicentin 1 |
| BTC-5 | UPP2 | 151531 | 2 | 158977957 | 158977958 | Frame_Shift_Ins | - | T | c.491_492insT | c.(490-495)p.V165fs | uridine phosphorylase 2 |
| BTC-5 | FNTB | 2342 | 14 | 65511053 | 65511053 | Nonsense_Mutation | C | T | c.847C>T | c.(847-849)p.R283* | farnesyltransferase, CAAX box, beta |
| BTC-5 | ACSM2A | 123876 | 16 | 20482871 | 20482871 | Nonsense_Mutation | C | T | c.754C>T | c.(754-756)p.Q252* | acyl-CoA synthetase medium-chain family member 2A |
| BTC-5 | PSD3 | 23362 | 8 | 18430175 | 18430175 | Nonsense_Mutation | C | A | c.2647G>T | c.(2647-264p.E883* | pleckstrin and Sec7 domain containing 3 |
| BTC-5 | COL11A1 | 1301 | 1 | 103467527 | 103467527 | Splice_Site | T | C | c.e24-2 | collagen, type XI, alpha 1 | |
| BTC-5 | AC007405. | 0 | 2 | 171570595 | 171570595 | Missense_Mutation | G | C | c.359C>G | c.(358-360)p.A120G | |
| BTC-5 | AC009365. | 0 | 7 | 132412557 | 132412557 | Missense_Mutation | G | A | c.409G>A | c.(409-411)p.V137I | |
| BTC-5 | ADAM21 | 8747 | 14 | 70924614 | 70924614 | Missense_Mutation | G | T | c.398G>T | c.(397-399)p.R133L | ADAM metallopeptidase domain 21 |
| BTC-5 | APOOL | 139322X | 84329077 | 84329077 | Missense_Mutation | G | C | c.560G>C | c.(559-561)p.S187T | apolipoprotein O-like | |
| BTC-5 | ASPM | 259266 | 1 | 197074062 | 197074062 | Missense_Mutation | T | C | c.4319A>G | c.(4318-43p.Q1440R | asp (abnormal spindle) homolog, microcephaly associated (Drosophila) |
| BTC-5 | ATP7A | 538X | 77301051 | 77301051 | Missense_Mutation | C | A | c.4208C>A | c.(4207-42p.S1403Y | ATPase, Cu++ transporting, alpha polypeptide | |
| BTC-5 | ATP8B4 | 79895 | 15 | 50288883 | 50288883 | Missense_Mutation | C | G | c.580G>C | c.(580-582)p.G194R | ATPase, class I, type 8B, member 4 |
| BTC-5 | CACNA1A | 773 | 19 | 13616812 | 13616812 | Missense_Mutation | C | A | c.227G>T | c.(226-228)p.R76L | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| BTC-5 | CCDC175 | 729665 | 14 | 60031860 | 60031860 | Missense_Mutation | T | C | c.625A>G | c.(625-627)p.I209V | coiled-coil domain containing 175 |
| BTC-5 | CCL18 | 6362 | 17 | 34398340 | 34398340 | Missense_Mutation | G | A | c.209G>A | c.(208-210)p.C70Y | chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) |
| BTC-5 | CD163 | 9332 | 12 | 7651580 | 7651580 | Missense_Mutation | A | G | c.662T>C | c.(661-663)p.I221T | CD163 molecule |
| BTC-5 | COL21A1 | 81578 | 6 | 55922544 | 55922544 | Missense_Mutation | G | T | c.2785C>A | c.(2785-27p.Q929K | collagen, type XXI, alpha 1 |
| BTC-5 | CSMD3 | 114788 | 8 | 113697935 | 113697935 | Missense_Mutation | G | C | c.2182C>G | c.(2182-21p.P728A | CUB and Sushi multiple domains 3 |
| BTC-5 | CXorf28 | 1E+08X | 3189922 | 3189922 | Missense_Mutation | C | T | c.49C>T | c.(49-51)Ccp.P17S | chromosome X open reading frame 28 | |
| BTC-5 | DMXL2 | 23312 | 15 | 51791693 | 51791693 | Missense_Mutation | T | A | c.3728A>T | c.(3727-37p.D1243V | Dmx-like 2 |
| BTC-5 | GAS2 | 2620 | 11 | 22747946 | 22747946 | Missense_Mutation | G | A | c.376G>A | c.(376-378)p.D126N | growth arrest-specific 2 |
| BTC-5 | GPR98 | 84059 | 5 | 89939702 | 89939702 | Missense_Mutation | C | T | c.2636C>T | c.(2635-26p.T879M | G protein-coupled receptor 98 |
| BTC-5 | HOXA4 | 3201 | 7 | 27170310 | 27170310 | Missense_Mutation | G | T | c.43C>A | c.(43-45)Ccp.P15T | homeobox A4 |
| BTC-5 | HP | 3240 | 16 | 72090131 | 72090131 | Missense_Mutation | C | T | c.77C>T | c.(76-78)aCp.T26M | haptoglobin |
| BTC-5 | ICAM5 | 7087 | 19 | 10405259 | 10405259 | Missense_Mutation | T | C | c.2173T>C | c.(2173-21p.C725R | intercellular adhesion molecule 5, telencephalin |
| BTC-5 | KIAA1244 | 57221 | 6 | 138576619 | 138576619 | Missense_Mutation | C | T | c.817C>T | c.(817-819)p.H273Y | KIAA1244 |
| BTC-5 | KIF21B | 23046 | 1 | 200948693 | 200948693 | Missense_Mutation | C | T | c.4130G>A | c.(4129-41p.R1377Q | kinesin family member 21B |
| BTC-5 | KRTAP21-1 | 337977 | 21 | 32127554 | 32127554 | Missense_Mutation | C | A | c.143G>T | c.(142-144)p.C48F | keratin associated protein 21-1 |
| BTC-5 | LCA10 | 0X | 153152431 | 153152431 | Missense_Mutation | G | T | c.311G>T | c.(310-312)p.R104L | ||
| BTC-5 | MAP1B | 4131 | 5 | 71490888 | 71490888 | Missense_Mutation | C | G | c.1706C>G | c.(1705-17p.T569R | microtubule-associated protein 1B |
| BTC-5 | MLK4 | 0 | 1 | 233518335 | 233518335 | Missense_Mutation | C | T | c.2989C>T | c.(2989-29p.P997S | |
| BTC-5 | NBEAL2 | 23218 | 3 | 47041430 | 47041430 | Missense_Mutation | C | A | c.3841C>A | c.(3841-384p.Q1281K | neurobeachin-like 2 |
| BTC-5 | NFATC2 | 4773 | 20 | 50140482 | 50140482 | Missense_Mutation | C | T | c.298G>A | c.(298-300)p.A100T | nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 |
| BTC-5 | NRAS | 4893 | 1 | 115256529 | 115256529 | Missense_Mutation | T | C | c.182A>G | c.(181-183)p.Q61R | neuroblastoma RAS viral (v-ras) oncogene homolog |
| BTC-5 | OLFML2B | 25903 | 1 | 161967939 | 161967939 | Missense_Mutation | T | A | c.1153A>T | c.(1153-11p.S385C | olfactomedin-like 2B |
| BTC-5 | OSBPL5 | 114879 | 11 | 3143583 | 3143583 | Missense_Mutation | G | A | c.295C>T | c.(295-297)p.L99F | oxysterol binding protein-like 5 |
| BTC-5 | PCDHB1 | 29930 | 5 | 140432385 | 140432385 | Missense_Mutation | G | A | c.1330G>A | c.(1330-13p.D444N | protocadherin beta 1 |
| BTC-5 | PCSK5 | 5125 | 9 | 78936474 | 78936474 | Missense_Mutation | G | A | c.3940G>A | c.(3940-394p.E1314K | proprotein convertase subtilisin/kexin type 5 |
| BTC-5 | PGR | 5241 | 11 | 100998706 | 100998706 | Missense_Mutation | C | T | c.1096G>A | c.(1096-10p.D366N | progesterone receptor |
| BTC-5 | PHIP | 55023 | 6 | 79695085 | 79695085 | Missense_Mutation | T | G | c.2521A>C | c.(2521-25p.S841R | pleckstrin homology domain interacting protein |
| BTC-5 | PIK3C2G | 5288 | 12 | 18435656 | 18435656 | Missense_Mutation | C | A | c.641C>A | c.(640-642)p.P214H | phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma |
| BTC-5 | PRKCD | 5580 | 3 | 53219710 | 53219710 | Missense_Mutation | A | T | c.979A>T | c.(979-981)p.M327L | protein kinase C, delta |
| BTC-5 | SEC14L2 | 23541 | 22 | 30802345 | 30802345 | Missense_Mutation | C | G | c.145C>G | c.(145-147)p.L49V | SEC14-like 2 (S. cerevisiae) |
| BTC-5 | SEMA6A | 57556 | 5 | 115782872 | 115782872 | Missense_Mutation | C | T | c.2530G>A | c.(2530-25p.E844K | sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A |
| BTC-5 | SKIV2L2 | 23517 | 5 | 54635888 | 54635888 | Missense_Mutation | G | T | c.566G>T | c.(565-567)p.S189I | superkiller viralicidic activity 2-like 2 (S. cerevisiae) |
| BTC-5 | TAF1L | 138474 | 9 | 32631848 | 32631848 | Missense_Mutation | G | A | c.3730C>T | c.(3730-37p.R1244W | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like |
| BTC-5 | TEX15 | 56154 | 8 | 30702546 | 30702546 | Missense_Mutation | T | G | c.3988A>C | c.(3988-39p.K1330Q | testis expressed 15 |
| BTC-5 | TLR8 | 51311X | 12939230 | 12939230 | Missense_Mutation | G | C | c.2125G>C | c.(2125-21p.E709Q | toll-like receptor 8 | |
| BTC-5 | TMEM200A | 114801 | 6 | 130762039 | 130762039 | Missense_Mutation | A | G | c.472A>G | c.(472-474)p.I158V | transmembrane protein 200A |
| BTC-5 | TMEM80 | 283232 | 11 | 703112 | 703112 | Missense_Mutation | G | T | c.469G>T | c.(469-471)p.V157F | transmembrane protein 80 |
| BTC-5 | TRPM6 | 140803 | 9 | 77377993 | 77377993 | Missense_Mutation | C | A | c.3594G>T | c.(3592-35p.K1198N | transient receptor potential cation channel, subfamily M, member 6 |
| BTC-5 | TSPYL5 | 85453 | 8 | 98290039 | 98290039 | Missense_Mutation | G | A | c.34C>T | c.(34-36)Cgp.R12C | TSPY-like 5 |
| BTC-6 | AMIGO2 | 347902 | 12 | 47471598 | 47471598 | Missense_Mutation | A | C | c.1188T>G | c.(1186-11p.F396L | adhesion molecule with Ig-like domain 2 |
| BTC-6 | BIRC6 | 57448 | 2 | 32712788 | 32712788 | Missense_Mutation | A | T | c.7888A>T | c.(7888-78p.I2630F | baculoviral IAP repeat containing 6 |
| BTC-6 | BZW1 | 9689 | 2 | 201680210 | 201680210 | Missense_Mutation | T | G | c.211T>G | c.(211-213)p.F71V | basic leucine zipper and W2 domains 1 |
| BTC-6 | CD200R1 | 131450 | 3 | 112648303 | 112648303 | Missense_Mutation | G | A | c.185C>T | c.(184-186)p.P62L | CD200 receptor 1 |
| BTC-6 | CRYBG3 | 131544 | 3 | 97593426 | 97593426 | Missense_Mutation | G | T | c.3388G>T | c.(3388-33p.G1130W | beta-gamma crystallin domain containing 3 |
| BTC-6 | DEAF1 | 10522 | 11 | 694992 | 694992 | Missense_Mutation | A | G | c.56T>C | c.(55-57)gTp.V19A | DEAF1 transcription factor |
| BTC-6 | EFCAB5 | 374786 | 17 | 28295933 | 28295933 | Missense_Mutation | A | T | c.315A>T | c.(313-315)p.E105D | EF-hand calcium binding domain 5 |
| BTC-6 | FSIP2 | 401024 | 2 | 186671383 | 186671383 | Missense_Mutation | G | A | c.17350G>A | c.(17350-1p.A5784T | fibrous sheath interacting protein 2 |
| BTC-6 | GAPVD1 | 26130 | 9 | 128064438 | 128064438 | Missense_Mutation | A | T | c.362A>T | c.(361-363)p.N121I | GTPase activating protein and VPS9 domains 1 |
| BTC-6 | IQSEC2 | 23096X | 53349985 | 53349985 | Missense_Mutation | C | T | c.337G>A | c.(337-339)p.D113N | IQ motif and Sec7 domain 2 | |
| BTC-6 | KDM5A | 5927 | 12 | 427378 | 427378 | Missense_Mutation | C | T | c.2791G>A | c.(2791-27p.G931R | lysine (K)-specific demethylase 5A |
| BTC-6 | LPAR3 | 23566 | 1 | 85279695 | 85279695 | Missense_Mutation | T | C | c.896A>G | c.(895-897)p.D299G | lysophosphatidic acid receptor 3 |
| BTC-6 | NLRP1 | 22861 | 17 | 5462767 | 5462767 | Missense_Mutation | A | G | c.1249T>C | c.(1249-12p.W417R | NLR family, pyrin domain containing 1 |
| BTC-6 | OR6B3 | 150681 | 2 | 240984973 | 240984973 | Missense_Mutation | C | A | c.517G>T | c.(517-519)p.V173F | olfactory receptor, family 6, subfamily B, member 3 |
| BTC-6 | OTUD6A | 139562X | 69282627 | 69282627 | Missense_Mutation | G | C | c.253G>C | c.(253-255)p.E85Q | OTU deubiquitinase 6A | |
| BTC-6 | PTPRH | 5794 | 19 | 55715264 | 55715264 | Missense_Mutation | T | C | c.772A>G | c.(772-774)p.T258A | protein tyrosine phosphatase, receptor type, H |
| BTC-6 | RAD50 | 10111 | 5 | 131927660 | 131927660 | Missense_Mutation | T | G | c.1727T>G | c.(1726-17p.L576R | RAD50 homolog (S. cerevisiae) |
| BTC-6 | RB1 | 5925 | 13 | 49039417 | 49039417 | Missense_Mutation | G | C | c.2402G>C | c.(2401-24p.G801A | retinoblastoma 1 |
| BTC-6 | SAMD9L | 219285 | 7 | 92763376 | 92763376 | Missense_Mutation | C | T | c.1909G>A | c.(1909-19p.A637T | sterile alpha motif domain containing 9-like |
| BTC-6 | SERINC5 | 256987 | 5 | 79454696 | 79454696 | Missense_Mutation | C | G | c.949G>C | c.(949-951)p.G317R | serine incorporator 5 |
| BTC-6 | ST6GALNA | 81849 | 1 | 77515950 | 77515950 | Missense_Mutation | T | A | c.679T>A | c.(679-681)p.S227T | ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
| BTC-6 | TMEM47 | 83604X | 34657486 | 34657486 | Missense_Mutation | A | G | c.245T>C | c.(244-246)p.L82P | transmembrane protein 47 | |
| BTC-6 | TRIM41 | 90933 | 5 | 180651595 | 180651595 | Missense_Mutation | T | C | c.596T>C | c.(595-597)p.L199P | tripartite motif containing 41 |
| BTC-6 | WDSUB1 | 151525 | 2 | 160139525 | 160139525 | Missense_Mutation | G | A | c.56C>T | c.(55-57)gCp.A19V | WD repeat, sterile alpha motif and U-box domain containing 1 |
| BTC-6 | ZC3H13 | 23091 | 13 | 46616352 | 46616352 | Missense_Mutation | C | T | c.286G>A | c.(286-288)p.V96M | zinc finger CCCH-type containing 13 |
| BTC-7 | CCDC18 | 343099 | 1 | 93705341 | 93705341 | Nonsense_Mutation | G | T | c.2866G>T | c.(2866-28p.E956* | coiled-coil domain containing 18 |
| BTC-7 | KANSL1 | 284058 | 17 | 44115975 | 44115975 | Nonsense_Mutation | G | A | c.2281C>T | c.(2281-22p.R761* | KAT8 regulatory NSL complex subunit 1 |
| BTC-7 | PLEKHG2 | 64857 | 19 | 39912773 | 39912773 | Nonsense_Mutation | G | T | c.1522G>T | c.(1522-15p.E508* | pleckstrin homology domain containing, family G (with RhoGef domain) member 2 |
| BTC-7 | ZNF546 | 339327 | 19 | 40520465 | 40520465 | Nonsense_Mutation | C | T | c.1288C>T | c.(1288-12p.R430* | zinc finger protein 546 |
| BTC-7 | SI | 6476 | 3 | 164760855 | 164760855 | Nonsense_Mutation | C | A | c.1996G>T | c.(1996-19p.G666* | sucrase-isomaltase (alpha-glucosidase) |
| BTC-7 | SLITRK2 | 84631X | 144904042 | 144904042 | Nonsense_Mutation | T | A | c.99T>A | c.(97-99)tgp.C33* | SLIT and NTRK-like family, member 2 | |
| BTC-7 | CNTNAP5 | 129684 | 2 | 125367471 | 125367471 | Missense_Mutation | C | T | c.1847C>T | c.(1846-184p.P616L | contactin associated protein-like 5 |
| BTC-7 | DNMT3A | 1788 | 2 | 25467461 | 25467461 | Missense_Mutation | T | C | c.946A>G | c.(946-948)p.I316V | DNA (cytosine-5-)-methyltransferase 3 alpha |
| BTC-7 | DSG4 | 147409 | 18 | 28971077 | 28971077 | Missense_Mutation | G | A | c.721G>A | c.(721-723)p.D241N | desmoglein 4 |
| BTC-7 | EPC1 | 80314 | 10 | 32560813 | 32560813 | Missense_Mutation | T | C | c.2038A>G | c.(2038-204p.T680A | enhancer of polycomb homolog 1 (Drosophila) |
| BTC-7 | ESM1 | 11082 | 5 | 54277867 | 54277867 | Missense_Mutation | A | T | c.409T>A | c.(409-411)p.Y137N | endothelial cell-specific molecule 1 |
| BTC-7 | F13A1 | 2162 | 6 | 6266956 | 6266956 | Missense_Mutation | C | A | c.406G>T | c.(406-408)p.V136F | coagulation factor XIII, A1 polypeptide |
| BTC-7 | FCRL3 | 115352 | 1 | 157665154 | 157665154 | Missense_Mutation | G | A | c.1376C>T | c.(1375-13p.A459V | Fc receptor-like 3 |
| BTC-7 | FUT1 | 2523 | 19 | 49254093 | 49254093 | Missense_Mutation | C | A | c.446G>T | c.(445-447)p.W149L | fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) |
| BTC-7 | GLI3 | 2737 | 7 | 42005951 | 42005951 | Missense_Mutation | C | A | c.2720G>T | c.(2719-27p.S907I | GLI family zinc finger 3 |
| BTC-7 | HEATR1 | 55127 | 1 | 236721708 | 236721708 | Missense_Mutation | C | T | c.5033G>A | c.(5032-50p.C1678Y | HEAT repeat containing 1 |
| BTC-7 | KLHL24 | 54800 | 3 | 183368493 | 183368493 | Missense_Mutation | A | G | c.349A>G | c.(349-351)p.M117V | kelch-like family member 24 |
| BTC-7 | KLHL9 | 55958 | 9 | 21333179 | 21333179 | Missense_Mutation | C | G | c.1680G>C | c.(1678-16p.M560I | kelch-like family member 9 |
| BTC-7 | KMT2A | 4297 | 11 | 118392628 | 118392628 | Missense_Mutation | T | A | c.11660T>A | c.(11659-1p.M3887K | lysine (K)-specific methyltransferase 2A |
| BTC-7 | KRAS | 3845 | 12 | 25398284 | 25398284 | Missense_Mutation | C | A | c.35G>T | c.(34-36)gGp.G12V | Kirsten rat sarcoma viral oncogene homolog |
| BTC-7 | LPP | 4026 | 3 | 188326976 | 188326976 | Missense_Mutation | C | T | c.457C>T | c.(457-459)p.P153S | LIM domain containing preferred translocation partner in lipoma |
| BTC-7 | LRP1B | 53353 | 2 | 141707920 | 141707920 | Missense_Mutation | A | G | c.3020T>C | c.(3019-30p.F1007S | low density lipoprotein receptor-related protein 1B |
| BTC-7 | MSH3 | 4437 | 5 | 79950739 | 79950739 | Missense_Mutation | G | A | c.193G>A | c.(193-195)p.A65T | mutS homolog 3 |
| BTC-7 | NCOR1 | 9611 | 17 | 16049747 | 16049747 | Missense_Mutation | T | C | c.1025A>G | c.(1024-10p.Y342C | nuclear receptor corepressor 1 |
| BTC-7 | NIPBL | 25836 | 5 | 37064917 | 37064917 | Missense_Mutation | A | G | c.8338A>G | c.(8338-834p.S2780G | Nipped-B homolog (Drosophila) |
| BTC-7 | NTRK1 | 4914 | 1 | 156851340 | 156851340 | Missense_Mutation | G | A | c.2297G>A | c.(2296-22p.R766Q | neurotrophic tyrosine kinase, receptor, type 1 |
| BTC-7 | PELP1 | 27043 | 17 | 4575146 | 4575146 | Missense_Mutation | C | T | c.3140G>A | c.(3139-314p.G1047E | proline, glutamate and leucine rich protein 1 |
| BTC-7 | RELN | 5649 | 7 | 103183183 | 103183183 | Missense_Mutation | A | T | c.6666T>A | c.(6664-66p.H2222Q | reelin |
| BTC-7 | SPTBN1 | 6711 | 2 | 54871578 | 54871578 | Missense_Mutation | G | A | c.4124G>A | c.(4123-41p.R1375Q | spectrin, beta, non-erythrocytic 1 |
| BTC-7 | SUSD2 | 56241 | 22 | 24583685 | 24583685 | Missense_Mutation | G | T | c.2038G>T | c.(2038-204p.A680S | sushi domain containing 2 |
| BTC-7 | ZNF14 | 7561 | 19 | 19822422 | 19822422 | Missense_Mutation | C | A | c.1668G>T | c.(1666-16p.E556D | zinc finger protein 14 |
| BTC-8 | APC | 324 | 5 | 112175952 | 112175952 | Frame_Shift_Del | A | - | c.4661delA | c.(4660-46p.E1554fs | adenomatous polyposis coli |
| BTC-8 | LMO7 | 4008 | 13 | 76408475 | 76408475 | Nonsense_Mutation | C | T | c.2479C>T | c.(2479-24p.Q827* | LIM domain 7 |
| BTC-8 | TP53 | 7157 | 17 | 7574003 | 7574003 | Nonsense_Mutation | G | A | c.1024C>T | c.(1024-10p.R342* | tumor protein p53 |
| BTC-8 | DUXA | 503835 | 19 | 57670637 | 57670637 | Nonsense_Mutation | G | A | c.190C>T | c.(190-192)p.Q64* | double homeobox A |
| BTC-8 | MMS22L | 253714 | 6 | 97676947 | 97676947 | Nonsense_Mutation | C | T | c.1862G>A | c.(1861-18p.W621* | MMS22-like, DNA repair protein |
| BTC-8 | KIF15 | 56992 | 3 | 44843467 | 44843467 | Splice_Site | G | C | c.e13+1 | kinesin family member 15 | |
| BTC-8 | ABCA9 | 10350 | 17 | 67025361 | 67025361 | Missense_Mutation | T | G | c.1453A>C | c.(1453-14p.N485H | ATP-binding cassette, sub-family A (ABC1), member 9 |
| BTC-8 | ACSS1 | 84532 | 20 | 25004233 | 25004233 | Missense_Mutation | C | T | c.676G>A | c.(676-678)p.G226R | acyl-CoA synthetase short-chain family member 1 |
| BTC-8 | ADAMTS6 | 11174 | 5 | 64595872 | 64595872 | Missense_Mutation | G | A | c.1310C>T | c.(1309-13p.A437V | ADAM metallopeptidase with thrombospondin type 1 motif, 6 |
| BTC-8 | ADORA1 | 134 | 1 | 203098180 | 203098180 | Missense_Mutation | A | G | c.211A>G | c.(211-213)p.I71V | adenosine A1 receptor |
| BTC-8 | AOC3 | 8639 | 17 | 41006705 | 41006705 | Missense_Mutation | C | T | c.1841C>T | c.(1840-184p.P614L | amine oxidase, copper containing 3 |
| BTC-8 | CPZ | 8532 | 4 | 8603105 | 8603105 | Missense_Mutation | G | A | c.344G>A | c.(343-345)p.R115Q | carboxypeptidase Z |
| BTC-8 | DACT3 | 147906 | 19 | 47151783 | 47151783 | Missense_Mutation | G | C | c.1846C>G | c.(1846-184p.L616V | dishevelled-binding antagonist of beta-catenin 3 |
| BTC-8 | ENPP2 | 5168 | 8 | 120577135 | 120577135 | Missense_Mutation | A | C | c.1097T>G | c.(1096-10p.V366G | ectonucleotide pyrophosphatase/phosphodiesterase 2 |
| BTC-8 | INO80D | 54891 | 2 | 206870153 | 206870153 | Missense_Mutation | C | A | c.2023G>T | c.(2023-20p.A675S | INO80 complex subunit D |
| BTC-8 | IRX3 | 79191 | 16 | 54319378 | 54319378 | Missense_Mutation | T | C | c.415A>G | c.(415-417)p.T139A | iroquois homeobox 3 |
| BTC-8 | KRAS | 3845 | 12 | 25398281 | 25398281 | Missense_Mutation | C | T | c.38G>A | c.(37-39)gGp.G13D | Kirsten rat sarcoma viral oncogene homolog |
| BTC-8 | KRT73 | 319101 | 12 | 53004589 | 53004589 | Missense_Mutation | C | T | c.1141G>A | c.(1141-114p.A381T | keratin 73 |
| BTC-8 | LAX1 | 54900 | 1 | 203743063 | 203743063 | Missense_Mutation | G | A | c.451G>A | c.(451-453)p.A151T | lymphocyte transmembrane adaptor 1 |
| BTC-8 | MATN4 | 8785 | 20 | 43927089 | 43927089 | Missense_Mutation | G | A | c.1147C>T | c.(1147-114p.R383W | matrilin 4 |
| BTC-8 | NAB1 | 4664 | 2 | 191524551 | 191524551 | Missense_Mutation | G | A | c.649G>A | c.(649-651)p.E217K | NGFI-A binding protein 1 (EGR1 binding protein 1) |
| BTC-8 | NPR3 | 4883 | 5 | 32712527 | 32712527 | Missense_Mutation | C | A | c.645C>A | c.(643-645)p.F215L | natriuretic peptide receptor 3 |
| BTC-8 | OTOG | 340990 | 11 | 17655819 | 17655819 | Missense_Mutation | A | G | c.7288A>G | c.(7288-72p.T2430A | otogelin |
| BTC-8 | PCDHGB6 | 56100 | 5 | 140788665 | 140788665 | Missense_Mutation | G | A | c.896G>A | c.(895-897)p.G299D | protocadherin gamma subfamily B, 6 |
| BTC-8 | POLA1 | 5422X | 24906154 | 24906154 | Missense_Mutation | G | A | c.4061G>A | c.(4060-40p.R1354H | polymerase (DNA directed), alpha 1, catalytic subunit | |
| BTC-8 | RALGAPA1 | 253959 | 14 | 36096402 | 36096402 | Missense_Mutation | T | A | c.5272A>T | c.(5272-52p.M1758L | Ral GTPase activating protein, alpha subunit 1 (catalytic) |
| BTC-8 | RIPK2 | 8767 | 8 | 90792331 | 90792331 | Missense_Mutation | G | C | c.882G>C | c.(880-882)p.L294F | receptor-interacting serine-threonine kinase 2 |
| BTC-8 | ROBO1 | 6091 | 3 | 78710287 | 78710287 | Missense_Mutation | A | G | c.2213T>C | c.(2212-22p.I738T | roundabout, axon guidance receptor, homolog 1 (Drosophila) |
| BTC-8 | ROBO2 | 6092 | 3 | 77657029 | 77657029 | Missense_Mutation | C | A | c.3217C>A | c.(3217-32p.P1073T | roundabout, axon guidance receptor, homolog 2 (Drosophila) |
| BTC-8 | SHISA8 | 440829 | 22 | 42310285 | 42310285 | Missense_Mutation | C | A | c.286G>T | c.(286-288)p.A96S | shisa family member 8 |
| BTC-8 | SMARCA2 | 6595 | 9 | 2104152 | 2104152 | Missense_Mutation | T | C | c.3275T>C | c.(3274-32p.L1092P | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
| BTC-8 | SSTR1 | 6751 | 14 | 38678956 | 38678956 | Missense_Mutation | G | A | c.362G>A | c.(361-363)p.R121H | somatostatin receptor 1 |
| BTC-8 | SYN3 | 8224 | 22 | 33265027 | 33265027 | Missense_Mutation | C | T | c.547G>A | c.(547-549)p.G183S | synapsin III |
| BTC-8 | TROVE2 | 6738 | 1 | 193046115 | 193046115 | Missense_Mutation | C | G | c.1021C>G | c.(1021-10p.L341V | TROVE domain family, member 2 |
| BTC-8 | USH2A | 7399 | 1 | 215844423 | 215844423 | Missense_Mutation | C | T | c.14024G>A | c.(14023-14p.R4675K | Usher syndrome 2A (autosomal recessive, mild) |
| BTC-8 | USH2A | 7399 | 1 | 216062042 | 216062042 | Missense_Mutation | G | C | c.7949C>G | c.(7948-79p.P2650R | Usher syndrome 2A (autosomal recessive, mild) |
| BTC-8 | XCR1 | 2829 | 3 | 46062623 | 46062623 | Missense_Mutation | G | A | c.817C>T | c.(817-819)p.R273C | chemokine (C motif) receptor 1 |
| BTC-8 | ZSCAN20 | 7579 | 1 | 33960845 | 33960845 | Missense_Mutation | C | A | c.2901C>A | c.(2899-29p.F967L | zinc finger and SCAN domain containing 20 |