Table 2.

List of 16 candidate genes in African American cases of severe proliferative diabetic retinopathy

Gene	chr	pos	ref	alt	Nature	Transcript	Protein	dbSNP
						HGVSc	HGVSp
AKR1C3	10	5141639	C	T	stop_gained,splice_region_variant	NM_003739.5:c.568C>T	NP_003730.4:p.Gln190Ter	rs140580498
KIAA1751	1	1888057	A	G	splice_donor_variant	NM_001080484.1:c.2016+2T>C	-	rs191790164
CD96	3	111342600	G	A	splice_acceptor_variant	NM_005816.4:c.1181−1G>A	-	rs77738677,COSM4917117
CRIPAK	4	1388651	T	-CA	frameshift_variant	NM_175918.3:c.352_353delTC	NP_787114.2:p.Ser118ThrfsTer289	Novel
CRIPAK	4	1389433	C	A	stop_gained	NM_175918.3:c.1134C>A	NP_787114.2:p.Cys378Ter	rs145208075
RGMA	15	93616946	A	G	splice_donor_variant	NM_001166283.1:c.38+2T>C	-	rs3942115
ZNF77	19	2933649	G	C	stop_gained	NM_021217.2:c.1476C>G	NP_067040.1:p.Tyr492Ter	rs34789013,COSM4076533
MPZL3	11	118104210	T	-AC	frameshift_variant	NM_198275.1:c.645_646delTA	NP_938016.1:p.Met216GlyfsTer9	rs144871575
NLRP12	19	54299165	G	A	stop_gained	NM_001277126.1:c.3049C>T	NP_001264055.1:p.Arg1017Ter	rs35064500
FAM92A1	8	94740519	T	-AAGTA	frameshift_variant	NM_145269.3:c.866_870delAGTAA	NP_660312.2:p.Lys289AsnfsTer9	Novel
EFCAB3	17	60472551	T	C	splice_donor_variant	NM_173503.3:c.488+2T>C	-	rs73329490
HNRNPCL1	1	12907683	G	A	stop_gained	NM_001013631.1:c.460C>T	NP_001013653.1:p.Arg154Ter	rs142211889
HNRNPCL1	1	12907352	T	-C	frameshift_variant	NM_001013631.1:c.791delA	NP_001013653.1:p.Asp264ValfsTer6	rs545031916
SIGLEC11	19	50463539	A	-G	frameshift_variant	NM_001135163.1:c.600delT	NP_001128635.1:p.Arg201GlufsTer37	rs547387871
ATP12A	13	25266666	T	-CGGA	frameshift_variant	NM_001185085.1:c.1186_1189delTCGG	NP_001172014.1:p.Ser396ThrfsTer6	rs557563746
TMEM217	6	37182972	A	G	splice_donor_variant	NM_145316.3:c.*2T>C	-	rs116076202
FAM132A	1	1178848	G	A	stop_gained	NM_001014980.2:c.616C>T	NP_001014980.1:p.Gln206Ter	rs115005664
SLC5A9	1	48694627	G	A	splice_donor_variant	NM_001135181.1:c.339+1G>A	-	rs149485404
SLC5A9	1	48703520	G	A	splice_donor_variant	NM_001135181.1:c.1536+1G>A	-	rs775853981
SLC5A9	1	48697766	G	A	stop_gained	NM_001135181.1:c.915G>A	NP_001128653.1:p.Trp305Ter	rs61997217

Variant Frequency					Conservation scores
HGVSc	1KG	UK10K	ExAC	EVS	phastCons	GERP (range: −12.3–6.17)	Max	Samples
NM_003739.5:c.568C>T	0.002396	0.000132	0.000608	T=2/C=8598;T=29/C=4377;T=31/C=12975	1	2.67	73.2392	3
NM_001080484.1:c.2016+2T>C	0.000998	0	0.00043	G=0/A=8454;G=22/A=4134;G=22/A=12588	0.747	3.2	-	3
NM_005816.4:c.1181−1G>A	0.003594	0	0.001302	A=1/G=8597;A=61/G=4345;A=62/G=12942	0.94	4.02	-	3
NM_175918.3:c.352_353delTC	0	0	0.001209	-	0	−1.9	1.5807	2
NM_175918.3:c.1134C>A	0.003594	0	0.00075	A=0/C=8600;A=27/C=4379;A=27/C=12979	0.646	0.757	1.5807	1
NM_001166283.1:c.38+2T>C	0.004593	0	0.001184	G=0/A=3178;G=13/A=1359;G=13/A=4537	0.23	1.42	-	3
NM_021217.2:c.1476C>G	0.003994	0	0.001326	C=0/G=8600;C=62/G=4344;C=62/G=12944	0.039	−1.5	2.2823	3
NM_198275.1:c.645_646delTA	0.004593	0	0.001279	-	0.988	1.94	20.2794	3
NM_001277126.1:c.3049C>T	0.004193	0	0.001665	A=0/G=8600;A=79/G=4327;A=79/G=12927	0.117	−1.31	0.1836	3
NM_145269.3:c.866_870delAGTAA	0	0	0	-	0.13	3.04	18.0953	3
NM_173503.3:c.488+2T>C	0.003594	0	0.001634	C=0/T=8600;C=68/T=4338;C=68/T=12938	1	5.99	-	3
NM_001013631.1:c.460C>T	0.004593	0	0.001035	A=0/G=8594;A=17/G=4387;A=17/G=12981	0.926	−2.02	0.5411	1
NM_001013631.1:c.791delA	0.004393	0	0.000837	-	0.011	1.09	0.5411	2
NM_001135163.1:c.600delT	0.001997	0	0.000169	-	0	−6.23	0.5998	3
NM_001185085.1:c.1186_1189delTCGG	0.003794	0	0.000908	-	1	5.63	0.5259	3
NM_145316.3:c.*2T>C	0.003794	0	0.001279	G=0/A=8600;G=65/A=4341;G=65/A=12941	0.083	1.73	-	3
NM_001014980.2:c.616C>T	0.003195	0	0.000832	A=1/G=8423;A=56/G=4222;A=57/G=12645	1	3.8	0.2202	3
NM_001135181.1:c.339+1G>A	0.002796	0	0.000474	A=0/G=8600;A=20/G=4386;A=20/G=12986	1	5.51	0.8064	2
NM_001135181.1:c.1536+1G>A	0	0	3.16E-05	-	1	5.02	-	1
NM_001135181.1:c.915G>A	0.003395	0	0.001073	A=0/G=8600;A=55/G=4351;A=55/G=12951	1	6.04	0.6774	2

1KG, 1000 genomes; UK10K, UK10K Project; ExAC, Exome Aggregation Consortium; EVS, exome variant server