Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCNN1D_chr1_1275436_1297025	1288979	T T	TCCCGTGT others(87): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0006 a0001c0049t0006	a0001c0049t0006g0123 a0001c0049t0006g0123	1	290	0.0035	94	c.166 others(111): Show c.1662+950_1662+951insCCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289125	T T	TCCGTCCC others(87): Show TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0023 a0023	a0023c0044 a0023c0044	a0023c0044t0002 a0023c0044t0002	a0023c0044t0002g0099 a0023c0044t0002g0099	1	290	0.0035	94	c.166 others(113): Show c.1663-1116_1663-1115insTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289243	T T	TCCCCCGT others(87): Show TCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	290	0.0035	94	c.166 others(113): Show c.1663-1025_1663-1024insCCGTGTCCCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(87): Show CCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCGTGTCCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0224 a0001c0017t0005g0224	1	290	0.0035	94	c.166 others(111): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCCGTGTCTCTG CTCCGTCCCGTGTCCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCCCGTGT others(87): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0022 a0004c0006t0002g0022	1	290	0.0035	94	c.166 others(111): Show c.1663-901_1663-900insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289561	T T	TCCCGTGT others(87): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	290	0.0035	94	c.166 others(111): Show c.1663-702_1663-701insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289633	T T	TCCCCCGT others(87): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	290	0.0035	94	c.166 others(111): Show c.1663-635_1663-634insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTCTGC others(87): Show GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0288 a0005c0016t0002g0288	1	290	0.0035	94	c.166 others(111): Show c.1663-296_1663-295insCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289996	T T	TCCGTCCC others(87): Show TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	290	0.0035	94	c.166 others(111): Show c.1663-263_1663-262insTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290036	T T	TTCCCCGT others(87): Show TTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0012 a0012	a0012c0062 a0012c0062	a0012c0062t0001 a0012c0062t0001	a0012c0062t0001g0029 a0012c0062t0001g0029	1	290	0.0035	94	c.166 others(111): Show c.1663-235_1663-234insTCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290054	T T	TCCCGTGT others(87): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0101 a0002c0003t0002g0101	1	290	0.0035	94	c.166 others(111): Show c.1663-204_1663-203insCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444542	C C	CATATATT others(87): Show CATATATTCGTATGAATATATATACATATATTCGTATGAATATATATACA TATATTCGTATGAATATATATACATATATTCGTATGAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	290	0.0035	94	c.114 others(113): Show c.1140+2216_1140+2217insATATATATTCATACGAATATATGTAT ATATATTCATACGAATATATGTATATATATTCATACGAATATATGTATAT ATATTCATACGAATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444568	C C	CATATATT others(87): Show CATATATTCGTATGAATATATATACATATATTCGTATGAATATATATACA TATATTCGTATGAATATATATACATATATTCGTATGAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	94	c.114 others(113): Show c.1140+2190_1140+2191insATATATATTCATACGAATATATGTAT ATATATTCATACGAATATATGTATATATATTCATACGAATATATGTATAT ATATTCATACGAATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444594	C C	CATATATT others(87): Show CATATATTCGTATGAATATATATACATATATTCGTATGAATATATATACA TATATTCGTATGAATATATATACATATATTCGTATGAATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	290	0.0035	94	c.114 others(113): Show c.1140+2164_1140+2165insATATATATTCATACGAATATATGTAT ATATATTCATACGAATATATGTATATATATTCATACGAATATATGTATAT ATATTCATACGAATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43281442	C C	CCCTCCTG others(87): Show CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01099.hp1 HG01106.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0031 a0003c0001t0001g0032 a0003c0001t0001g0031 a0003c0001t0001g0032	2	280	0.0071	94	c.484 others(111): Show c.484+9603_484+9604insATGGCTGAGGGAGGTGACAGGATAGCTG AGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGG AGGAGGTGACAGGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339697	T T	TGCTCCAA others(87): Show TGCTCCAACCCTCCCCCACTCTCCTCACTCTATGCCCCCACAAGCATTGC TCCAACCCTCCCCCACTCTCCTCACTCTATCCCCCCACAAGCATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0056 a0002c0002t0056	a0002c0002t0056g0159 a0002c0002t0056g0159	1	280	0.0036	94	c.89- others(107): Show c.89-463_89-462insTATGCTTGTGGGGGGATAGAGTGAGGAGAGTG GGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGG GAGGGTTGGAGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACACAG others(87): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0016 a0002c0012t0016	a0002c0012t0016g0002 a0002c0012t0016g0002	1	116	0.0086	94	c.199 others(113): Show c.1994+2071_1994+2072insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(87): Show CCACGCAGACAGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0002 a0002c0043t0002	a0002c0043t0002g0105 a0002c0043t0002g0105	1	116	0.0086	94	c.199 others(113): Show c.1994+2071_1994+2072insCACGCAGACAGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0020 a0020c0028t0020	a0020c0028t0020g0087 a0020c0028t0020g0087	1	116	0.0086	94	c.199 others(113): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0066 a0021c0025t0066	a0021c0025t0066g0041 a0021c0025t0066g0041	1	116	0.0086	94	c.199 others(113): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0036 a0001c0050t0036	a0001c0050t0036g0109 a0001c0050t0036g0109	1	116	0.0086	94	c.199 others(113): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACACAG others(87): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0031 a0001c0062t0031	a0001c0062t0031g0100 a0001c0062t0031g0100	1	116	0.0086	94	c.199 others(113): Show c.1994+2130_1994+2131insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACACAG others(87): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0060 a0001c0014t0018g0060	1	116	0.0086	94	c.199 others(113): Show c.1994+2130_1994+2131insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACACAG others(87): Show CCACACAGGGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0007 a0011c0022t0072g0007	1	116	0.0086	94	c.199 others(113): Show c.1994+2130_1994+2131insCACACAGGGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(87): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGTAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0034 a0034	a0034c0076 a0034c0076	a0034c0076t0008 a0034c0076t0008	a0034c0076t0008g0016 a0034c0076t0008g0016	1	116	0.0086	94	c.199 others(113): Show c.1994+2130_1994+2131insCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGACAGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0002 a0002c0043t0002	a0002c0043t0002g0105 a0002c0043t0002g0105	1	116	0.0086	94	c.199 others(113): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACAGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02630.hp1 HG02896.hp1	a0001 a0022 a0001 a0022	a0001c0061 a0022c0064 a0001c0061 a0022c0064	a0001c0061t0041 a0022c0064t0007 a0001c0061t0041 a0022c0064t0007	a0001c0061t0041g0080 a0022c0064t0007g0106 a0001c0061t0041g0080 a0022c0064t0007g0106	2	116	0.0172	94	c.199 others(113): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCATGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGACT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0006 a0001c0094t0006	a0001c0094t0006g0053 a0001c0094t0006g0053	1	116	0.0086	94	c.199 others(113): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGACT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(87): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01123.hp2 others(8): Show HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01934.hp2 HG01978.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG03195.hp2 HG03688.hp2 NA20129.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0022 a0037	a0001c0002 a0001c0008 a0001c0010 others(8): Show a0001c0002 a0001c0008 a0001c0010 a0002c0043 a0002c0091 a0004c0048 a0005c0057 a0006c0016 a0006c0078 a0022c0064 a0037c0074	a0001c0002t0002 a0001c0008t0007 a0001c0010t0060 others(8): Show a0001c0002t0002 a0001c0008t0007 a0001c0010t0060 a0002c0043t0002 a0002c0091t0010 a0004c0048t0038 a0005c0057t0006 a0006c0016t0003 a0006c0078t0003 a0022c0064t0007 a0037c0074t0001	a0001c0002t0002g0095 a0001c0008t0007g0067 a0001c0010t0060g0017 others(8): Show a0001c0002t0002g0095 a0001c0008t0007g0067 a0001c0010t0060g0017 a0002c0043t0002g0105 a0002c0091t0010g0047 a0004c0048t0038g0082 a0005c0057t0006g0098 a0006c0016t0003g0068 a0006c0078t0003g0099 a0022c0064t0007g0106 a0037c0074t0001g0015	11	116	0.0948	94	c.199 others(113): Show c.1994+2495_1994+2496insCACGCAGAGGGCCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0024 a0024	a0024c0095 a0024c0095	a0024c0095t0025 a0024c0095t0025	a0024c0095t0025g0049 a0024c0095t0025g0049	1	116	0.0086	94	c.199 others(113): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0093 a0002c0009t0004g0093	1	116	0.0086	94	c.199 others(113): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0086 a0001c0027t0002g0086	1	116	0.0086	94	c.199 others(113): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACACAG others(87): Show CCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0033 a0001c0037t0033	a0001c0037t0033g0116 a0001c0037t0033g0116	1	116	0.0086	94	c.199 others(113): Show c.1994+2656_1994+2657insCACACAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0086 a0001c0027t0002g0086	1	116	0.0086	94	c.199 others(113): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0056 a0002c0009t0056	a0002c0009t0056g0044 a0002c0009t0056g0044	1	116	0.0086	94	c.199 others(113): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(87): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0034 a0034	a0034c0076 a0034c0076	a0034c0076t0008 a0034c0076t0008	a0034c0076t0008g0016 a0034c0076t0008g0016	1	116	0.0086	94	c.199 others(113): Show c.1994+2715_1994+2716insCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18522.hp2 HG02896.hp1 NA18522.hp2	a0001 a0033 a0001 a0033	a0001c0061 a0033c0070 a0001c0061 a0033c0070	a0001c0061t0041 a0033c0070t0069 a0001c0061t0041 a0033c0070t0069	a0001c0061t0041g0080 a0033c0070t0069g0064 a0001c0061t0041g0080 a0033c0070t0069g0064	2	116	0.0172	94	c.199 others(113): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(87): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG02559.hp2 HG02922.hp1	a0001 a0020 a0001 a0020	a0001c0027 a0020c0028 a0001c0027 a0020c0028	a0001c0027t0002 a0020c0028t0020 a0001c0027t0002 a0020c0028t0020	a0001c0027t0002g0086 a0020c0028t0020g0087 a0001c0027t0002g0086 a0020c0028t0020g0087	2	116	0.0172	94	c.199 others(113): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(87): Show AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCTAT AATAATATTATTATATATAATCTATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0011	1	454	0.0022	94	c.54 others(105): Show c.5484_*5485insAGATTATATATAATAATATTATAGATTATATATA ATAATATTATTATAGATTATATATAATAATATTATTATAGATTATATATA ATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(87): Show AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCTAT AATATTATTATATATAATCTATAATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0104 a0004c0004t0001g0104	1	454	0.0022	94	c.54 others(105): Show c.5484_*5485insAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTATAGATTATATATAATAATATTATTATAGATTATATATA ATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEC61G_chr7_54747253_54764211	54749370	C C	CTACAGGT others(87): Show CTACAGGTACTTAACAAACAGAAAATGTTTAAGAAATTCCTTCAGGTGAT TCATGCATGGTAAAGTTTAATACTGTTTCACAGTATTAGCTCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	406	0.0025	94	c.30 others(105): Show c.3040_*3041insCCAGAGCTAATACTGTGAAACAGTATTAAACTTT ACCATGCATGAATCACCTGAAGGAATTTCTTAAACATTTTCTGTTTGTTA AGTACCTGTA	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		2882		chr7	TogoVar
SEC61G_chr7_54747253_54764211	54749370	C C	CTACAGGT others(87): Show CTACAGGTACTTAACAAACAGAAAATGTTTAAGAAATTCCTTCAGGTGAT TCATGCATGGTGAAGTTTAATACTGTTTCACAGTATTAGCTCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(186): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0002t0001g0021	189	406	0.4655	94	c.30 others(105): Show c.3040_*3041insCCAGAGCTAATACTGTGAAACAGTATTAAACTTC ACCATGCATGAATCACCTGAAGGAATTTCTTAAACATTTTCTGTTTGTTA AGTACCTGTA	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		2882		chr7	TogoVar
SEC61G_chr7_54747253_54764211	54749370	C C	CTACAGGT others(87): Show CTACAGGTACTTAACAAAGAGAAAATGTTTAAGAAATTCCTTCAGGTGAT TCATGCATGGTGAAGTTTAATACTGTTTCACAGTATTAGCTCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02257.hp2 others(2): Show HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0002 a0001c0001t0001g0026	5	406	0.0123	94	c.30 others(105): Show c.3040_*3041insCCAGAGCTAATACTGTGAAACAGTATTAAACTTC ACCATGCATGAATCACCTGAAGGAATTTCTTAAACATTTTCTCTTTGTTA AGTACCTGTA	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		2882		chr7	TogoVar
SEC61G_chr7_54747253_54764211	54749441	A A	ACTGTTTC others(87): Show ACTGTTTCACAGTATTAGCTCTGGTACAGGTACTTAACAAACAGAAAATG TTTAAGAAATTCCTTCAGGTGATTCATGCATGGTGAAGTTTAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(21): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02896.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0047	24	406	0.0591	94	c.29 others(105): Show c.2969_*2970insCATTAAACTTCACCATGCATGAATCACCTGAAGG AATTTCTTAAACATTTTCTGTTTGTTAAGTACCTGTACCAGAGCTAATAC TGTGAAACAG	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		2811		chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(87): Show CATATATATATATTCCATATATATATTCCATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0135 a0001c0011t0001g0135	1	324	0.0031	94	c.115 others(111): Show c.115-2706_115-2705insATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3E_chr7_83358238_83654139	83389951	T T	TATTACAT others(87): Show TATTACATGTATACATATATACACGTATATGTGTATAGTGTATACGTATA CACATATATACGCGTATATATGTGTATACGTATACACATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp1 NA19004.hp1 others(1): Show HG01346.hp1 HG02280.hp1 NA19004.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0139 a0001c0002t0001g0091 a0001c0002t0001g0144 others(1): Show a0001c0001t0001g0139 a0001c0002t0001g0091 a0001c0002t0001g0144 a0001c0003t0001g0149	4	226	0.0177	94	c.166 others(113): Show c.1667+2603_1667+2604insGTATATATGTGTATACGTATACACAT ATATACGCGTATATATGTGTATACGTATACACTATACACATATACGTGTA TATATGTATACATGTAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55813547	C C	CTCCTTCC others(87): Show CTCCTTCCACTTGTGGGAAAGAAAAGGAAGATTAGAAGAGAACTTTATCT TACAACTTGAGTAGCAGCTCAGCCACAGTAAAACACACAAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02922.hp1 others(2): Show HG02257.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0011 a0001c0001t0011 a0002c0002t0011	a0001c0001t0011g0376 a0002c0002t0011g0005 a0002c0002t0011g0006 others(2): Show a0001c0001t0011g0376 a0002c0002t0011g0005 a0002c0002t0011g0006 a0002c0002t0011g0009 a0002c0002t0011g0010	5	390	0.0128	94	c.817 others(111): Show c.817+5486_817+5579dupCTCTCTTGTGTGTTTTACTGTGGCTGAG CTGCTACTCAAGTTGTAAGATAAAGTTCTCTTCTAATCTTCCTTTTCTTT CCCACAAGTGGAAGGA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	7/9			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241355634	G G	GCCCCGCC others(87): Show GCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCG AGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0289 a0001c0001t0004g0289	1	408	0.0025	94	c.36 others(105): Show c.3697_*3698insCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACC TAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAG CGAACCGACT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1608		chr2	TogoVar
SGIP1_chr1_66529153_66756139	66630829	A A	AAGAGAGA others(87): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0125 a0002c0002t0004g0125	1	302	0.0033	94	c.75- others(109): Show c.75-2238_75-2237insGAGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAAAGAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630849	A A	AAGAAAGA others(87): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0295 a0002c0002t0050g0295	1	302	0.0033	94	c.75- others(109): Show c.75-2214_75-2213insGAGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar

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