Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(163): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	376	0.0027	170	c.-58 others(177): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(163): Show ATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA TTGTCATATATATGTGTCATATATGTGTCATATATGTGTGTCATATATGT GTCATATATATGTGTCATATATGTGTCATATATATCTGTCATATATGTGT CATATATATCTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	202	0.0050	170	c.-25 others(181): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATATTGTCATATATATGTGTCATATATGTGTCATATAT GTGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT CTGTCATATATGTGTCATATATATCTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626361	T T	TATATGTG others(163): Show TATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATA TATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATA TATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATA TGTGTCATATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0074 a0001c0001t0067g0074	1	202	0.0050	170	c.-24 others(181): Show c.-2463_-2462insATATGTGTCATATATATGTGTCATATATGTGTCA TATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCA TATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATA TATGTGTCATATATATGTGTCATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2036		chr7	TogoVar
SAMD11_chr1_918923_949574	934455	C C	CGGGGGGG others(163): Show CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGTGGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG02109.hp1 HG02970.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0277 a0005c0007t0008g0278 a0005c0007t0008g0277 a0005c0007t0008g0278	2	434	0.0046	170	c.843 others(187): Show c.843-1312_843-1311insGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGTGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934784	A A	AGGTGGGC others(163): Show AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0294 a0001c0010t0007g0294	1	434	0.0023	170	c.843 others(185): Show c.843-981_843-980insGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GCAGGAGG others(163): Show GCAGGAGGAGGAGGAGGAGGAGAAACAGGTGTTAGGACACTGTGGGGACG TCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAGGAGGAAGA GGAAGAACAGGAGGACGAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0012 a0001c0006t0009g0012	1	203	0.0049	170	c.-12 others(189): Show c.-127+9348_-127+9349insTCCTCGTCCTCCTGTTCTTCCTCTTC CTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT CCTGTTCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCC CCACAGTGTCCTAACACCTGTTTCTCCTCCTCCTCCTCCTCCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288997	T T	TCCCGTGT others(163): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	290	0.0035	170	c.166 others(187): Show c.1662+981_1662+982insCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(163): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCAT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0035	170	c.166 others(187): Show c.1663-523_1663-522insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCATGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(163): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	290	0.0035	170	c.166 others(187): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(163): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0005 a0001c0001t0029g0005	1	370	0.0027	170	c.-30 others(189): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCTCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(163): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01258.hp1 others(9): Show HG01106.hp1 HG01167.hp2 HG01258.hp1 HG02083.hp2 HG03098.hp2 HG03516.hp1 HG03579.hp2 HG04204.hp1 NA18950.hp1 NA18987.hp1 NA19063.hp1 NA19068.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0028 a0002c0002t0002 a0002c0002t0020 a0003c0005t0044 a0004c0006t0006	a0001c0001t0001g0172 a0001c0001t0001g0221 a0001c0001t0003g0204 others(9): Show a0001c0001t0001g0172 a0001c0001t0001g0221 a0001c0001t0003g0204 a0001c0001t0003g0273 a0001c0001t0011g0292 a0001c0001t0012g0352 a0001c0001t0028g0004 a0002c0002t0002g0304 a0002c0002t0002g0369 a0002c0002t0020g0003 a0003c0005t0044g0284 a0004c0006t0006g0065	12	370	0.0324	170	c.-30 others(189): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(163): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGATCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0002 a0002c0002t0020g0002	1	370	0.0027	170	c.-30 others(189): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGATCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SETD7_chr4_139501038_139561219	139551640	G G	GAGCTGAC others(163): Show GAGCTGACCTCTCTTCCTCTTCAAATCAGTCAGACCTGTTTTCCTGGTTA AACAGTTTATAAGGAAACAAAAGGCAAGCATGGGAGGGGATAATATGTGT ATGTGCACTAAGCGTTGAAGCAGATCTCTTTGATCATCACAGAGTCCACT GAGGTGGTAGGAAACAACGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0189 a0001c0001t0011g0189	1	316	0.0032	170	c.40+ others(185): Show c.40+4457_40+4458insGCCGTTGTTTCCTACCACCTCAGTGGACTC TGTGATGATCAAAGAGATCTGCTTCAACGCTTAGTGCACATACACATATT ATCCCCTCCCATGCTTGCCTTTTGTTTCCTTATAAACTGTTTAACCAGGA AAACAGGTCTGACTGATTTGAAGAGGAAGAGAGGTCAGCT	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	1/7			chr4	TogoVar
SFTPB_chr2_85652314_85673199	85666431	G G	GTGTGTGT others(163): Show GTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGG CCGGCTTGGGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGG CTGGGGTGCTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGT GTGTCCGGCCAGCTGGGGTAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	426	0.0024	170	c.393 others(185): Show c.393+185_393+186insGTACCCCAGCTGGCCGGACACACACACACA CAGCACCCTATCCAGACACATACACACACACAGCACCCCAGCCAGCCAGA CACACACACACACACACACACACACACAGCACCCAAGCCGGCCAGACACA AACACACAGCACCCCAGCCAGCCGGACACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(163): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01081.hp1 others(35): Show HG00558.hp2 HG00639.hp1 HG01081.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp1 HG03704.hp2 HG04115.hp1 NA18953.hp1 NA18964.hp1 NA18964.hp2 NA18985.hp1 NA18990.hp1 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19057.hp1 NA19066.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0029 a0001c0001t0032 a0001c0001t0039 a0001c0001t0046 a0001c0001t0049 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0002t0054 a0001c0002t0055 a0001c0002t0058 a0001c0002t0060 a0001c0002t0061 a0004c0007t0020	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0054 others(35): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0003g0013 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0029g0024 a0001c0001t0032g0020 a0001c0001t0039g0004 a0001c0001t0046g0121 a0001c0001t0049g0149 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0080 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0092 a0001c0002t0004g0114 a0001c0002t0008g0006 a0001c0002t0008g0115 a0001c0002t0010g0005 a0001c0002t0011g0051 a0001c0002t0015g0081 a0001c0002t0023g0071 a0001c0002t0024g0063 a0001c0002t0024g0100 a0001c0002t0051g0099 a0001c0002t0054g0073 a0001c0002t0055g0091 a0001c0002t0058g0089 a0001c0002t0060g0074 a0001c0002t0061g0103 a0004c0007t0020g0012	38	150	0.2533	170	c.192 others(189): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA TTATATTATAATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(163): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATATTATATTATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01243.hp1 others(30): Show HG00639.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp1 HG03704.hp1 HG04115.hp2 NA18522.hp2 NA18959.hp1 NA18966.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0021 a0001c0001t0047 a0001c0001t0048 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0019 a0001c0002t0028 a0001c0002t0044 a0001c0002t0056 a0001c0002t0059 a0001c0006t0018 a0002c0003t0017 a0003c0005t0001	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0058 others(30): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0003g0136 a0001c0001t0005g0047 a0001c0001t0009g0049 a0001c0001t0009g0142 a0001c0001t0016g0144 a0001c0001t0021g0027 a0001c0001t0021g0046 a0001c0001t0047g0003 a0001c0001t0048g0053 a0001c0002t0002g0077 a0001c0002t0002g0109 a0001c0002t0004g0106 a0001c0002t0005g0082 a0001c0002t0005g0097 a0001c0002t0011g0090 a0001c0002t0013g0030 a0001c0002t0013g0032 a0001c0002t0015g0086 a0001c0002t0019g0031 a0001c0002t0019g0033 a0001c0002t0028g0034 a0001c0002t0044g0026 a0001c0002t0056g0096 a0001c0002t0059g0002 a0001c0006t0018g0145 a0002c0003t0017g0014 a0003c0005t0001g0148	33	150	0.2200	170	c.192 others(189): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA TTATATTATAATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(163): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTTTATTATAATATAATATTATATTTTATTATAATATAAT ATTATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAA TATATTATATTTTATTATAAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0126	1	150	0.0067	170	c.192 others(189): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTTTATTATAATATAATATTATATTTTATTATAATATAATATTATATTA TAATATAATATAATATTGTATTATATTTTATTATAATATAATATATTATA TTTTATTATAATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAGGAAAG others(163): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAAGAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAGGGAAG GAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0087 a0001c0014t0001g0087	1	302	0.0033	170	c.75- others(185): Show c.75-2163_75-2162insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAGAAA others(163): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	250	0.0040	170	c.286 others(189): Show c.286-24983_286-24982insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGSM1_chr22_24801211_24932578	24900414	T T	TCTTTCTT others(163): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT CTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0302 a0003c0003t0001g0302	1	338	0.0030	170	c.261 others(189): Show c.2611-1419_2611-1418insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTC	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24			chr22	TogoVar
SHC2_chr19_411589_466033	432403	G G	GGGCAGAT others(163): Show GGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAG AGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAG ATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGATAGAGGAGGCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0021 a0001c0014t0001g0021	1	212	0.0047	170	c.111 others(189): Show c.1111-1657_1111-1656insTGGCCTCCTCTATCTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTC ACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAAC TCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432468	T T	TAGATGGC others(163): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0063 a0006c0011t0005g0063	1	212	0.0047	170	c.111 others(189): Show c.1111-1722_1111-1721insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTC CTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432928	C C	CAGATAGA others(163): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0182 a0003c0008t0005g0182	1	212	0.0047	170	c.111 others(189): Show c.1110+1780_1110+1781insATCTGCCCGGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCT ATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(163): Show TAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	212	0.0047	170	c.111 others(189): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACTATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(163): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03688.hp1 NA18612.hp2 others(8): Show HG02132.hp2 HG03688.hp1 NA18612.hp2 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19056.hp2 NA19066.hp2 NA19080.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0002 a0001c0003t0004 a0004c0010t0002 a0001c0003t0002 a0001c0003t0004 a0004c0010t0002	a0001c0003t0002g0001 a0001c0003t0002g0060 a0001c0003t0002g0069 others(7): Show a0001c0003t0002g0001 a0001c0003t0002g0060 a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0076 a0001c0003t0004g0109 a0001c0003t0004g0110 a0004c0010t0002g0067 a0004c0010t0002g0068	11	212	0.0519	170	c.111 others(189): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(163): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG01884.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0079 a0001c0001t0013g0073 a0001c0001t0002g0079 a0001c0001t0013g0073	2	212	0.0094	170	c.111 others(189): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTATCTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433848	T T	TAGATGGC others(163): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp1 others(14): Show HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01943.hp2 HG02293.hp2 HG03098.hp2 HG03688.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA19074.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0012 a0001c0003 a0001c0006 a0002c0012	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0006t0002 a0001c0006t0006 a0002c0012t0002	a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0001g0113 others(14): Show a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0001g0113 a0001c0003t0001g0139 a0001c0003t0002g0075 a0001c0003t0002g0078 a0001c0003t0002g0100 a0001c0003t0002g0111 a0001c0003t0002g0117 a0001c0003t0002g0150 a0001c0003t0002g0181 a0001c0003t0004g0108 a0001c0003t0010g0077 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0002c0012t0002g0203	17	212	0.0802	170	c.111 others(187): Show c.1110+860_1110+861insGCCCGGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCT CTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(163): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCGCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01258.hp1 HG00639.hp2 HG01070.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022	a0001c0001t0002g0169 a0001c0001t0004g0048 a0001c0001t0022g0162 a0001c0001t0002g0169 a0001c0001t0004g0048 a0001c0001t0022g0162	3	214	0.0140	170	c.691 others(189): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCGCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(163): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCGCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0193 a0001c0001t0015g0193	1	214	0.0047	170	c.691 others(189): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCGCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(163): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	214	0.0047	170	c.691 others(189): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(163): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	214	0.0047	170	c.691 others(189): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(163): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	214	0.0047	170	c.691 others(189): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(163): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	242	0.0041	170	c.43 others(181): Show c.4343_*4344insGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(163): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCACTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	242	0.0041	170	c.43 others(181): Show c.4343_*4344insGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGTGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(163): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	242	0.0041	170	c.43 others(181): Show c.4343_*4344insGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(163): Show ATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGT GTGTGTGTGTATATATATATATATATATATATATATATTTATACACACAT ATATATACATACACATATATATATACACACACACACAGAGTTTTGGAGTA TATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02040.hp2 others(1): Show HG00621.hp2 HG00673.hp1 HG02040.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0004g0073 others(1): Show a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0192	4	266	0.0150	170	c.240 others(189): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATTTA TACACACATATATATACATACACATATATATATACACACACACACAGAGT TTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270764	A A	ATATATAC others(163): Show ATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATTTATACACACAT ATATATACATACACATATATATATACACACACACACAGAGTTTTGGAGTA TATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	266	0.0038	170	c.240 others(189): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(163): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTATATATATATATATATATATATATATATATTTATACACACAT ATATATACATACACATATATATATACACACACACACAGAGTTTTGGAGTA TATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG01975.hp1 others(19): Show HG00408.hp2 HG01175.hp1 HG01975.hp1 HG02015.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03688.hp2 HG03831.hp1 NA18950.hp2 NA18954.hp1 NA18968.hp2 NA18983.hp1 NA18985.hp2 NA18995.hp1 NA18997.hp1 NA19012.hp2 NA19054.hp1 NA19091.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0010c0012	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0010c0012t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 others(19): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0002t0001g0191 a0001c0002t0001g0197 a0001c0011t0001g0047 a0010c0012t0001g0243	22	266	0.0827	170	c.240 others(189): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270772	A A	ACTCTAAG others(163): Show ACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGTGTATAT ATATATATATATATATATATATATATATATATATATATTTATACACACAT ATATATACATACACATATATATATACACACACACACAGAGTTTTGGAGTA TATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0013 a0001c0001t0016g0013	1	266	0.0038	170	c.240 others(189): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATATTTATACACACATATATATACATACACATATATATATACA CACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1085606	T T	TGGACGGA others(163): Show TGGACGGAGCCCGCGGGGGTCAGCGCACAGGCAAGGGACGGAGCCCGCGG GGGTCAGCGCACAGGCGAGGGACGGAGCCCGCGGGGGTCAGCGCACAGGC GAGGGACGGAGCCCGCGGGGGTCAGCGCACAGGCGAGGGACGGAGCCCGC GGGGGTCAGCGCACAGGCAAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	118	0.0085	170	c.676 others(185): Show c.676-134_676-133insCTTGCCTGTGCGCTGACCCCCGCGGGCTCC GTCCCTCGCCTGTGCGCTGACCCCCGCGGGCTCCGTCCCTCGCCTGTGCG CTGACCCCCGCGGGCTCCGTCCCTCGCCTGTGCGCTGACCCCCGCGGGCT CCGTCCCTTGCCTGTGCGCTGACCCCCGCGGGCTCCGTCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	6/23			chr5	TogoVar
SLC22A31_chr16_89190761_89205537	89192808	T T	TCGCCGCT others(163): Show TCGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACCCCGCCCCTCAGTA CCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCGTAACCCCGCCCC CTCAGTACCAGCCACGCCCCTTCCTCCCCAGCTCCGCCTCCTCCCTAACC CCGCCCCCTCATTACCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	428	0.0023	170	c.31 others(181): Show c.3190_*3191insTGGCTGGTAATGAGGGGGCGGGGTTAGGGAGGAG GCGGAGCTGGGGAGGAAGGGGCGTGGCTGGTACTGAGGGGGCGGGGTTAC GGAGGAGGAGGAGCTGGGGAGGAAGCGGCGTGGCTGGTACTGAGGGGCGG GGTTAGGGAGGAGGAGGAGCTGGGGAGGAAGCGGCG	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		2952		chr16	TogoVar
SLC2A2_chr3_170991347_171031720	171013504	T T	TATAAAAG others(163): Show TATAAAAGCTCCAGTATGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	328	0.0031	170	c.371 others(185): Show c.371+964_371+965insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCATACTGGAGCTTTTAT	SLC2A2	ENSG00000163581.14	transcript	ENST00000314251.8	protein_coding	3/10			chr3	TogoVar
SLC39A12_chr10_17946918_18048285	18041719	G G	GTATATAT others(163): Show GTATATATGTGTATATATATGTATATACATATGTATATATGTGTATATAT ATGTATATACATATGTATATATGTGTATATATATGTATATACATATGTAT ATATGTGTATATATGTATATACATATGTATATACGTGTATATATATGTAT ATACATATGTATATACGTGTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0360 a0003c0002t0001g0360	1	368	0.0027	170	c.194 others(187): Show c.1948-969_1948-968insATGTATATACATATGTATATATGTGTAT ATATATGTATATACATATGTATATATGTGTATATATATGTATATACATAT GTATATATGTGTATATATGTATATACATATGTATATACGTGTATATATAT GTATATACATATGTATATACGTGTATATATATGTGTATATAT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(163): Show GGAAGAAGAAAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAGGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	170	c.42 others(181): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCTTCTTCCTCTTCTTCCTCTTCTTTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(163): Show TTATATATATATATAAATATATATATATATTTATATATATATAAATATAT ATATATATTTATATATATATATAAATATATATATATATTTATATATATAT AAATATATATATATATTTATATATATATATAAATATATATATATATTTAT ATATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0117 a0001c0001t0158g0117	1	236	0.0042	170	c.180 others(191): Show c.1809-21730_1809-21729insTATATATATTTATATATATATATA AATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATAAATATATATATATATTTATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200232	A A	ATATAAAT others(163): Show ATATAAATATATATATATATATATATATATATATAAATATATATATATTT ATATATATATATAAATATATATATATATTTATATATATATATAAATATAT ATATATATTTTTATATATATATATAAATATATATATATATTTATATATAT ATATAAATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0084 a0001c0001t0131g0084	1	236	0.0042	170	c.180 others(191): Show c.1809-21740_1809-21739insAATATATATATATATTTATATATA TATATAAATATATATATATATTTATATATATATATAAAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATATATATAAA TATATATATATTTATATATATATATATATATATATATATATTTATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLIT2_chr4_20246905_20625561	20472611	T T	TATATATA others(163): Show TATATATATAGATATATATCTAGATATATATCTATATATATATAGATATA TCTATATAGATATATCTATATAGATATATCTATATATATATATATAGATA TATCTATATATATCGATATATATAGATATATCTATATATATCGATATATA TAGATATATCTATATATATCG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0044 a0001c0001t0056g0044	1	230	0.0044	170	c.467 others(187): Show c.467+4796_467+4797insAGATATATATCTAGATATATATCTATAT ATATATAGATATATCTATATAGATATATCTATATAGATATATCTATATAT ATATATATAGATATATCTATATATATCGATATATATAGATATATCTATAT ATATCGATATATATAGATATATCTATATATATCGATATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850538	T T	TTATATAT others(163): Show TTATATATTATATATATATTATATATATTATGTATAATATATATTATATA TTATATATATTATGTATAATATATATTATATATTATATATATATTATATA TATTATGTATAATATATATTATATATTATATATATATTATATATATTATG TATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0208 a0001c0001t0017g0208	1	310	0.0032	170	c.784 others(185): Show c.784+735_784+736insTAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATAATA TATATTATACATAATATATATAATATATATATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850630	A A	ATTATGTA others(163): Show ATTATGTATAATATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATATATTATATATATTATGTATAATATATATTATATATTAT ATATATATTATATATATTATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0213 a0001c0001t0050g0213	1	310	0.0032	170	c.784 others(185): Show c.784+643_784+644insCATAATATATATAATATATATATAATATAT AATATATATTATACATAATATATATAATATATATATAATATATATTATAC ATAATATATATAATATATATATAATATATAATATATATTATACATAATAT ATATAATATATATATAATATATAATATATATTATACATAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(163): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02148.hp2 HG03492.hp2 HG02083.hp1 HG02148.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0001 a0001c0001t0001g0063	3	380	0.0079	170	c.17 others(181): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar