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
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(173): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02040.hp2 HG02165.hp2 others(5): Show HG01978.hp1 HG02040.hp2 HG02165.hp2 HG02602.hp1 HG03239.hp2 HG03831.hp1 NA18948.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0006t0003	a0001c0001t0001g0062 a0001c0001t0002g0087 a0001c0001t0002g0126 others(5): Show a0001c0001t0001g0062 a0001c0001t0002g0087 a0001c0001t0002g0126 a0001c0001t0003g0008 a0001c0001t0003g0091 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0006t0003g0078	8	164	0.0488	180	c.203 others(197): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36810888	T T	TGGGGGAA others(173): Show TGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATT CAGCATATGATAGAGAAAAGAGCGGGGGAAATAATTCAGCATATGATAGA GAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGG AAATAATTCAGCATATGATAGAGAAAAGAGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0008 a0001c0001t0002 a0002c0003t0008	a0001c0001t0002g0041 a0002c0003t0008g0017 a0001c0001t0002g0041 a0002c0003t0008g0017	2	164	0.0122	180	c.203 others(197): Show c.203+3029_203+3030insGCTCTTTTCTCTATCATATGCTGAATTA TTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTT TTCTCTATCATATGCTGAATTATTTCCCCCGCTCTTTTCTCTATCATATG CTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCC CC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(173): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp2 HG02135.hp2 others(11): Show HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG03139.hp2 HG03710.hp1 NA18956.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0015 a0001c0002t0027 a0006c0009t0003	a0001c0002t0002g0029 a0001c0002t0003g0019 a0001c0002t0003g0024 others(8): Show a0001c0002t0002g0029 a0001c0002t0003g0019 a0001c0002t0003g0024 a0001c0002t0003g0041 a0001c0002t0003g0075 a0001c0002t0003g0082 a0001c0002t0012g0019 a0001c0002t0015g0029 a0001c0002t0015g0051 a0001c0002t0027g0081 a0006c0009t0003g0024	14	386	0.0363	180	c.563 others(197): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGG TC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(173): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03486.hp1 HG03579.hp1 HG02897.hp2 HG03486.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0014 a0002c0003t0023 a0002c0003t0006 a0002c0003t0014 a0002c0003t0023	a0002c0003t0006g0060 a0002c0003t0014g0146 a0002c0003t0023g0147 a0002c0003t0006g0060 a0002c0003t0014g0146 a0002c0003t0023g0147	3	386	0.0078	180	c.563 others(197): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGG TC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC2A13_chr12_39750025_40111081	39817468	C C	CCTTATTT others(173): Show CCTTATTTAGTGCAGAGAGATTTTCTTGCCTGAAATGAAACCGGTCGTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT TTGTTTTTTTTTTTTTTTTTTTTGTTATTTGTTTTTTTTTTTTTTTTTTT TTTTTGTGAGTTTTAGTACTTAATTGTATCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	214	0.0047	180	c.144 others(201): Show c.1445+12634_1445+12635insAGATACAATTAAGTACTAAAACTC ACAAAAAAAAAAAAAAAAAAAAAAAACAAATAACAAAAAAAAAAAAAAAA AAAACAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACGACCGGTTTCATTTCAGGCAAGAAAATCTCTCTGCACTA AATAAG	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(173): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TATACATGTGTATATATACATATATGTACAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	182	0.0055	180	c.173 others(199): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATATACATGTGTATATATACATATATGTACATA TATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(173): Show CATATATGTACATATGTACATATATACATGTGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19240.hp1 HG00741.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0048 a0001c0001t0010 a0001c0001t0048	a0001c0001t0010g0177 a0001c0001t0048g0178 a0001c0001t0010g0177 a0001c0001t0048g0178	2	182	0.0110	180	c.173 others(199): Show c.173+15714_173+15715insTGTACATATGTACATATATACATGTG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140359185	T T	TACAAAAA others(173): Show TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02886.hp2 HG02258.hp1 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0013 a0001c0005t0002 a0001c0001t0002 a0001c0001t0013 a0001c0005t0002	a0001c0001t0002g0123 a0001c0001t0013g0221 a0001c0005t0002g0227 a0001c0001t0002g0123 a0001c0001t0013g0221 a0001c0005t0002g0227	3	346	0.0087	180	c.376 others(195): Show c.376-401_376-400insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC44A5_chr1_75197129_75616114	75280434	T T	TTATATAT others(173): Show TTATATATTGTATATATAATATATATATTGTATATATTATATATTGTATA TATAATATATATATTGTATATATTATATATTGTATATATAATATATATAT TGTATATATTATATATACAATATATAATATATATATTGTATATATTATAT ATTGTATATATAATATATATATTGTATATAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	156	0.0064	180	c.176 others(197): Show c.176-5393_176-5392insTTATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATTGTATATATAATATAT ACAATATATATATTATATATACAATATATAATATATACAATATATATATT ATATATACAATATATAATATATACAATATATATATTATATATACAATATA TA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203338	G G	GGAGAGAG others(173): Show GGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGACCGTGGAGA GAGAGAGAGAGAGAGGGAGAGAGGAGAGAGGAGAGAGGGAGAGAGGGAGA GAGGGGAGAGAGGGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	188	0.0053	180	c.82 others(191): Show c.8233_*8234insTCCCTCTCTCCCTCTCTCCCTCTCTCCCCTCTCT CCCTCTCTCCCTCTCTCCTCTCTCCTCTCTCCCTCTCTCTCTCTCTCTCT CCACGGTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3835		chr8	TogoVar
SLC5A4_chr22_32213464_32260347	32213700	G G	GTATATAT others(173): Show GTATATATCTATATATGTATACATATATATCTATACATATATGTATATAT CTATATATGTATACATATATATCTATACATATATATGGATATATATCTAT ATATGTATACATATATATCTATACATATATATGGATATATATCTATATAT GTATACATATATATCTATACATATATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01168.hp1 others(24): Show HG00099.hp1 HG00280.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02109.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG04199.hp2 NA18522.hp1 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0003c0005t0001 a0001c0003t0001 a0003c0005t0001	a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0003t0001g0103 others(21): Show a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0003t0001g0103 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0123 a0003c0005t0001g0005 a0003c0005t0001g0092 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0098 a0003c0005t0001g0099 a0003c0005t0001g0100 a0003c0005t0001g0101 a0003c0005t0001g0102	27	302	0.0894	180	c.48 others(191): Show c.4813_*4814insTCCATATATATGTATAGATATATATGTATACATA TATAGATATATATCCATATATATGTATAGATATATATGTATACATATATA GATATATATCCATATATATGTATAGATATATATGTATACATATATAGATA TATACATATATGTATAGATATATATGTATACATATATAGATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4763		chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79916180	C C	CCACGGTG others(173): Show CCACGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCATGGTGCTCTCATA GCCGCAGTGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCCATG GCGCTCCCATACCCACAGCGCTCCCGTACCCACGGTGCTCTCATAGCCGC AGTGCTCCCGTACCCTCCCATACCCACGGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	352	0.0028	180	c.608 others(197): Show c.608+3003_608+3004insCACCGTGGGTATGGGAGGGTACGGGAGC ACTGCGGCTATGAGAGCACCGTGGGTACGGGAGCGCTGTGGGTATGGGAG CGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGGAGCACTGC GGCTATGAGAGCACCATGGGTACGGGAGCACTGCGGCTATGAGAGCACCG TG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(173): Show CCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTAT CCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTAT CCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATGCCATGCCAT GCCATGCCATCCTATCCTATCCTATCCTATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	362	0.0028	180	c.757 others(197): Show c.757-1528_757-1527insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATCCTATCCTATCCTATCCTATCCTATGCCATGCCATGCC ATGCCATCCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCT AT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1411740	G G	GCACATAC others(173): Show GCACATACCATGCAACATACACACTCAGACACACATACCATGCAACATAC ACACTCAGACACACATACCATGCAACATACACACTCAGACACACATACCA TGCAACATACACACTCAGACACACATACCATGCAACATACACACTCAGAC ACACATACCATGCAACATACACACTCAGACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	373	0.0027	180	c.115 others(197): Show c.1157-386_1157-385insTGTCTGAGTGTGTATGTTGCATGGTATG TGTGTCTGAGTGTGTATGTTGCATGGTATGTGTGTCTGAGTGTGTATGTT GCATGGTATGTGTGTCTGAGTGTGTATGTTGCATGGTATGTGTGTCTGAG TGTGTATGTTGCATGGTATGTGTGTCTGAGTGTGTATGTTGCATGGTATG TG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29559331	A A	AGGGGGAG others(173): Show AGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGA GAATGTGAGTGAGCGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGT GAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGA ATGTGAGTGAGGCAGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0265 a0001c0001t0014g0265	1	330	0.0030	180	c.-11 others(199): Show c.-114-5472_-114-5471insCTCATTCAGATTCACTCTGCCTCACT CACATTCTCTCCCCCCTCACATTCACTCCCCCCTCATTCAGATTCACTCC CCCTCACTCACATTCACTCCCCCTCACTCACATTCTCTCCCGCTCACTCA CATTCTCTCCCCCTCATTCACATTCACTCCCCCCTCACTCACATTCACTC CCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(173): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATATAAATATATATA TATATTTATATATATATATAAATATATATATATATTTATATATATATATA AATATATATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp2 HG00597.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0184 a0001c0001t0001g0016 a0001c0001t0001g0184	2	236	0.0085	180	c.180 others(201): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATATAAATATATATATATATTTATATATATATAT AAATATATATATATATTTATATATATATATAAATATATATATATATTTAT ATATATATATAAATATATATATATATTTATATATATATATAAATATATAT ATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLCO3A1_chr15_91848708_92170903	92047043	T T	TATATATA others(173): Show TATATATATAATATATAAATATATATATATAAATATATATATAATATATA AATATATATATATAAATATATATAATATATAAATATATATATAAATATAT AATATATAAATATATATACAAATATATATATAATATATAAATATATACAA ATATATATATAATATATAAATATATATACAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	190	0.0053	180	c.647 others(199): Show c.647-47812_647-47811insTATAAATATATATATAATATATAAAT ATATATATATAAATATATATAATATATAAATATATATATAAATATATAAT ATATAAATATATATACAAATATATATATAATATATAAATATATACAAATA TATATATAATATATAAATATATATACAAATATATATAATATATAAATATA TATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO5A1_chr8_69662046_69839978	69772563	A A	AGAAAGGA others(173): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0083 a0002c0002t0004g0083	1	280	0.0036	180	c.908 others(199): Show c.908-10689_908-10688insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SNX18_chr5_54512759_54551586	54513823	A A	ATATATAA others(173): Show ATATATAATATATAAATATATATGATATATATAAATTTATATAATATATA AATATATATGATATATATAAATTTATATAATATATAAATATATATGATAT ATATAAATTTATATAATATATAAATATATATGATATATATAAATTTATAT AATATATAAATATATATGATATATATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0001 a0001c0001t0021g0001	1	390	0.0026	180	c.-41 others(191): Show c.-4130_-4129insTATATAATATATAAATATATATGATATATATAAA TTTATATAATATATAAATATATATGATATATATAAATTTATATAATATAT AAATATATATGATATATATAAATTTATATAATATATAAATATATATGATA TATATAAATTTATATAATATATAAATATATATGATATATATAAATT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3935		chr5	TogoVar
SNX18_chr5_54512759_54551586	54513912	A A	ATATATGA others(173): Show ATATATGATATATATAAATTTATATAATATATAAATATATATGATATATA TAAATTTATATAATATATAAATATATATGATATATATAAATTTATATAAT ATATAAATATATATGATATATATAAATTTATATAATATATAAATTTATAT GATATATATAAATTTATATAATATATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	390	0.0026	180	c.-40 others(191): Show c.-4041_-4040insTATATGATATATATAAATTTATATAATATATAAA TATATATGATATATATAAATTTATATAATATATAAATATATATGATATAT ATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATAA TATATAAATTTATATGATATATATAAATTTATATAATATATAAATT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3846		chr5	TogoVar
SNX29_chr16_11971734_12579287	12203390	A A	ATAGTGTG others(173): Show ATAGTGTGGCCCTGATGTCAGATGGACTGGTGGCATTGGAGGTGACGTCT CTGAAGTTGTGTAGTGAGGCCTTGCTGTCAGGTGGACTGGTGGCATTGGA GGTGACAGCTCTGAAGTTGTGTAGTGTGACCCTGGTGTCAGGTGGACTGG TGGCATTGGAGGTGACAGCTCTGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(105): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18950.hp2 NA18969.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19070.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0013 a0001c0014 a0001c0023 a0001c0024 a0001c0025 a0002c0005 a0006c0017 a0008c0010 a0009c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(79): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0041 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0058 a0001c0001t0102 a0001c0001t0110 a0001c0001t0112 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0019 a0001c0002t0022 a0001c0002t0024 a0001c0002t0066 a0001c0002t0067 a0001c0002t0073 a0001c0002t0076 a0001c0002t0081 a0001c0002t0082 a0001c0002t0088 a0001c0002t0089 a0001c0002t0093 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0011 a0001c0003t0016 a0001c0003t0025 a0001c0003t0026 a0001c0003t0037 a0001c0003t0043 a0001c0003t0053 a0001c0003t0057 a0001c0003t0060 a0001c0003t0103 a0001c0003t0104 a0001c0004t0003 a0001c0004t0005 a0001c0004t0020 a0001c0004t0022 a0001c0004t0023 a0001c0004t0071 a0001c0004t0072 a0001c0004t0079 a0001c0004t0080 a0001c0004t0083 a0001c0004t0084 a0001c0004t0085 a0001c0004t0095 a0001c0004t0097 a0001c0004t0098 a0001c0004t0105 a0001c0006t0021 a0001c0006t0068 a0001c0006t0078 a0001c0007t0002 a0001c0007t0064 a0001c0013t0094 a0001c0014t0015 a0001c0023t0008 a0001c0024t0038 a0001c0025t0096 a0002c0005t0039 a0002c0005t0044 a0002c0005t0045 a0002c0005t0051 a0006c0017t0002 a0008c0010t0100 a0009c0009t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0127 others(105): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0004g0078 a0001c0001t0004g0132 a0001c0001t0004g0157 a0001c0001t0007g0175 a0001c0001t0008g0104 a0001c0001t0008g0137 a0001c0001t0009g0090 a0001c0001t0009g0111 a0001c0001t0014g0118 a0001c0001t0015g0085 a0001c0001t0017g0025 a0001c0001t0026g0062 a0001c0001t0030g0014 a0001c0001t0034g0063 a0001c0001t0041g0046 a0001c0001t0046g0047 a0001c0001t0048g0052 a0001c0001t0050g0140 a0001c0001t0058g0107 a0001c0001t0102g0001 a0001c0001t0110g0162 a0001c0001t0112g0139 a0001c0002t0003g0051 a0001c0002t0003g0134 a0001c0002t0005g0032 a0001c0002t0005g0084 a0001c0002t0005g0168 a0001c0002t0018g0037 a0001c0002t0019g0174 a0001c0002t0022g0007 a0001c0002t0024g0128 a0001c0002t0066g0106 a0001c0002t0067g0059 a0001c0002t0073g0096 a0001c0002t0076g0100 a0001c0002t0081g0021 a0001c0002t0082g0006 a0001c0002t0088g0018 a0001c0002t0089g0072 a0001c0002t0093g0086 a0001c0003t0001g0089 a0001c0003t0001g0103 a0001c0003t0001g0133 a0001c0003t0001g0154 a0001c0003t0002g0058 a0001c0003t0002g0077 a0001c0003t0002g0097 a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0004g0176 a0001c0003t0006g0144 a0001c0003t0011g0098 a0001c0003t0016g0005 a0001c0003t0016g0029 a0001c0003t0025g0010 a0001c0003t0025g0083 a0001c0003t0026g0012 a0001c0003t0037g0142 a0001c0003t0043g0074 a0001c0003t0053g0131 a0001c0003t0057g0105 a0001c0003t0060g0093 a0001c0003t0103g0079 a0001c0003t0104g0156 a0001c0004t0003g0138 a0001c0004t0003g0161 a0001c0004t0005g0115 a0001c0004t0005g0171 a0001c0004t0020g0038 a0001c0004t0020g0055 a0001c0004t0022g0048 a0001c0004t0023g0149 a0001c0004t0023g0172 a0001c0004t0071g0109 a0001c0004t0072g0114 a0001c0004t0079g0070 a0001c0004t0080g0054 a0001c0004t0083g0068 a0001c0004t0084g0135 a0001c0004t0085g0023 a0001c0004t0095g0151 a0001c0004t0097g0146 a0001c0004t0098g0045 a0001c0004t0105g0042 a0001c0006t0021g0073 a0001c0006t0068g0003 a0001c0006t0078g0027 a0001c0007t0002g0004 a0001c0007t0064g0113 a0001c0013t0094g0126 a0001c0014t0015g0165 a0001c0023t0008g0110 a0001c0024t0038g0148 a0001c0025t0096g0076 a0002c0005t0039g0013 a0002c0005t0044g0071 a0002c0005t0045g0088 a0002c0005t0051g0091 a0006c0017t0002g0024 a0008c0010t0100g0022 a0009c0009t0001g0043	108	176	0.6136	180	c.167 others(199): Show c.1678+3772_1678+3773insAGGCCTTGCTGTCAGGTGGACTGGTG GCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGACCCTGGTGTCAGG TGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGGCCC TGATGTCAGATGGACTGGTGGCATTGGAGGTGACGTCTCTGAAGTTGTGT AGTG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12203390	A A	ATAGTGTG others(173): Show ATAGTGTGGCCCTGATGTCAGATGGACTGGTGGCATTGGAGGTGACGTCT CTGAAGTTGTGTAGTGTGGCCTTGCTGTCAGGTGGACTGGTGGCATTGGA GGTGACAGCTCTGAAGTTGTGTAGTGTGACCCTGGTGTCAGGTGGACTGG TGGCATTGGAGGTGACAGCTCTGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0092 a0001c0012t0002 a0001c0004t0092 a0001c0012t0002	a0001c0004t0092g0102 a0001c0012t0002g0028 a0001c0004t0092g0102 a0001c0012t0002g0028	2	176	0.0114	180	c.167 others(199): Show c.1678+3812_1678+3813insAGCTCTGAAGTTGTGTAGTGTGACCC TGGTGTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGT AGTGTGGCCCTGATGTCAGATGGACTGGTGGCATTGGAGGTGACGTCTCT GAAGTTGTGTAGTGTGGCCTTGCTGTCAGGTGGACTGGTGGCATTGGAGG TGAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12203411	A A	ATGGACTG others(173): Show ATGGACTGGTGGCATTGGAGGTGACGTCTCTGAAGTTGTGTAGTGAGGCC TTGCTGTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTG TAGTGTGACCCTGGTGTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTC TGAAGTTGTGTAGTGTGGCCCTGATGTCAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0075 a0001c0003t0062g0075	1	176	0.0057	180	c.167 others(199): Show c.1678+3772_1678+3773insAGGCCTTGCTGTCAGGTGGACTGGTG GCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGACCCTGGTGTCAGG TGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGGCCC TGATGTCAGGTGGACTGGTGGCATTGGAGGTGACGTCTCTGAAGTTGTGT AGTG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12203419	G G	GTGGCATT others(173): Show GTGGCATTGGAGGTGACGTCTCTGAAGTTGTGTAGTGAGGCCTTGCTGTC AGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGA CCCTGGTGTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTG TGTAGTGTGGCCCTGATGTCAGATGGACTGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03490.hp1 HG01358.hp1 HG03490.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0061 a0004c0011t0009 a0001c0001t0061 a0004c0011t0009	a0001c0001t0061g0173 a0004c0011t0009g0116 a0001c0001t0061g0173 a0004c0011t0009g0116	2	176	0.0114	180	c.167 others(199): Show c.1678+3772_1678+3773insAGGCCTTGCTGTCAGGTGGACTGGTG GCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGACCCTGGTGTCAGG TGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGGCCC TGATGTCAGATGGACTGATGGCATTGGAGGTGACGTCTCTGAAGTTGTGT AGTG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12203495	C C	CAGCTCTG others(173): Show CAGCTCTGAAGTTGTGTAGTGTGACCCTGGTGTCAGGTGGACTGGTGGCA TTGGAGGTGACAGCTCTGAAGTTGTGTAGTGTGGCCCTGATGTCAGATGG ACTGGTGGCATTGGAGGTGACGTCTCTGAAGTTGTGTAGTGTGGCCTTGC TGTCAGGTGGACTGGTGGCATTGGAGGTGAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 NA18969.hp1 HG00438.hp2 HG02040.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0014 a0001c0002t0090 a0001c0001t0002 a0001c0001t0014 a0001c0002t0090	a0001c0001t0002g0020 a0001c0001t0014g0099 a0001c0002t0090g0170 a0001c0001t0002g0020 a0001c0001t0014g0099 a0001c0002t0090g0170	3	176	0.0171	180	c.167 others(199): Show c.1678+3812_1678+3813insAGCTCTGAAGTTGTGTAGTGTGACCC TGGTGTCAGGTGGACTGGTGGCATTGGAGGTGACAGCTCTGAAGTTGTGT AGTGTGGCCCTGATGTCAGATGGACTGGTGGCATTGGAGGTGACGTCTCT GAAGTTGTGTAGTGTGGCCTTGCTGTCAGGTGGACTGGTGGCATTGGAGG TGAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20			chr16	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(173): Show ATATATATATAAATATATATATTTATATATATAAATATATATATATAAAT ATATATATTTATATATATAAATATATATATATAAATATATATATTTATAT ATAAATATATATATAAATATATATATTTATATATATAAATATATAAATAT ATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01934.hp2 others(8): Show HG01106.hp1 HG01433.hp1 HG01934.hp2 HG02071.hp1 HG02165.hp1 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA19065.hp1 NA19079.hp2 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0008c0019 a0001c0005 a0008c0019	a0001c0005t0007 a0008c0019t0007 a0001c0005t0007 a0008c0019t0007	a0001c0005t0007g0008 a0001c0005t0007g0335 a0001c0005t0007g0346 others(7): Show a0001c0005t0007g0008 a0001c0005t0007g0335 a0001c0005t0007g0346 a0001c0005t0007g0347 a0001c0005t0007g0350 a0001c0005t0007g0352 a0001c0005t0007g0354 a0001c0005t0007g0355 a0001c0005t0007g0357 a0008c0019t0007g0345	11	382	0.0288	180	c.159 others(197): Show c.1597-364_1597-363insAATATATATATTTATATATATAAATATA TATATATAAATATATATATTTATATATATAAATATATATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATATAAA TATATAAATATATATATTTATATATATAAATATATATATATTTATATATA TA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449217	T T	TCCTCCCT others(173): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0038 a0001c0038t0038	a0001c0038t0038g0128 a0001c0038t0038g0128	1	168	0.0060	180	c.548 others(199): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPNS3_chr17_4428940_4493204	4462426	C C	CACCAATC others(173): Show CACCAATCTATCCATCCATCCATCCACCCATCCGCCAGTCCATCCATCCA TCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCATC CACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACCCA CCCACCCACCCATCCATCCACCAGTCTATCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	362	0.0028	180	c.111 others(199): Show c.1113+9222_1113+9223insCCAATCTATCCATCCATCCATCCACC CATCCGCCAGTCCATCCATCCATCCATCCATCCACCAATCCATCCACCCA CCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCACCAATG CATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCAGTCTA TCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462558	C C	CACCAGTC others(173): Show CACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCCA TCCATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCATC CATCTACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCA CCCACCCACCCACCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18962.hp2 NA18970.hp1 others(1): Show HG01070.hp2 NA18962.hp2 NA18970.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0013 a0001c0001 a0001c0007 a0001c0013	a0001c0001t0001 a0001c0007t0003 a0001c0013t0001 a0001c0001t0001 a0001c0007t0003 a0001c0013t0001	a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0007t0003g0174 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0007t0003g0174 a0001c0013t0001g0180	4	362	0.0111	180	c.111 others(199): Show c.1113+9354_1113+9355insCCAGTCTATCAATCCATCTATCCATC CATCCACCAATCCATCCATCCATCCATCCATCCATCCACCCATCCACCAA TCCATCCATCCACCAATCCATCCATCTACCCACCCACCAATCCATCCATC CATCCATCCATCCACCCACCCACCCACCCACCCACCCATTCATCCACCAA TCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462574	C C	CACCAGTC others(173): Show CACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCCA TCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCATCCATC TACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCCA CCCACCCACCCACCCACCCATTCATCCACCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02280.hp2 HG02572.hp2	a0001 a0007 a0001 a0007	a0001c0012 a0007c0025 a0001c0012 a0007c0025	a0001c0012t0001 a0007c0025t0002 a0001c0012t0001 a0007c0025t0002	a0001c0012t0001g0047 a0007c0025t0002g0050 a0001c0012t0001g0047 a0007c0025t0002g0050	2	362	0.0055	180	c.111 others(199): Show c.1113+9370_1113+9371insCCAGTCTATCAATCCATCTATCCATC CATCCACCAATCCATCCATCCATCCATCCATCCACCCATCCACCAATCCA TCCATCCACCAATCCATCCATCTACCCACCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCCACCCACCCACCCACCCACCCATTCATCCA CCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(173): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	260	0.0039	180	c.138 others(199): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCT CCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPPL2B_chr19_2323684_2360095	2349021	C C	CTCTCTCT others(173): Show CTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTC TCTCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCGTTCTCTCT CCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCTCCACA CACTCACGCACTCTTATTCGCCTGATTCCGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	414	0.0024	180	c.135 others(199): Show c.1355-2405_1355-2404insCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCCT GATTCCGTTCTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTT CTCTCTCTCTCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTC TCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRING1_chr12_116705171_116743069	116733346	T T	TTAATTTT others(173): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0182 a0001c0001t0014g0182	1	362	0.0028	180	c.111 others(197): Show c.111+4443_111+4444insGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TA	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	1/4			chr12	TogoVar
SRL_chr16_4184374_4247080	4211511	G G	GTGATGAT others(173): Show GTGATGATGATGATGATGGTGATGATGGTGATGGTGATGACCGTGCCGAT GATGAGGATCGTGATGATGATGATGATGGTGATGATGATGGTGATGACCG TGCTGATGATGAGGATCGTGATGATGATGATGATGGTGATGATGGTGATG GTGATGACCGTGCCGATGATGAGGATCGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	358	0.0028	180	c.62- others(195): Show c.62-6878_62-6877insTCACGATCCTCATCATCGGCACGGTCATCA CCATCACCATCATCACCATCATCATCATCATCACGATCCTCATCATCAGC ACGGTCATCACCATCATCATCACCATCATCATCATCATCACGATCCTCAT CATCGGCACGGTCATCACCATCACCATCATCACCATCATCATCATCATCA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4211602	T T	TGACCGTG others(173): Show TGACCGTGCCGATGATGAGGATCGTGATGATGATGATGATGATGGTGATG ATGGTGATGGTGATGACCATGCTAATGATGAGGATCGTGATGATGATGAT GATGGTGATGATGATGGTGATGACCGTGCCGATGATGAGGATCGTGATGA TGATGATGATGGTGATGATGGTGATGGTGAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	358	0.0028	180	c.62- others(195): Show c.62-6969_62-6968insGTCACCATCACCATCATCACCATCATCATC ATCATCACGATCCTCATCATCGGCACGGTCATCACCATCATCATCACCAT CATCATCATCATCACGATCCTCATCATTAGCATGGTCATCACCATCACCA TCATCACCATCATCATCATCATCATCACGATCCTCATCATCGGCACGGTC	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP68_chr17_76033785_76077517	76062657	T T	TTATATAA others(173): Show TTATATAATATATAATATACATTATATATTATATAATATACATTATATAT TATATAATATATAATATACATTATATTATATAATATACATTATATATTAT ATAATATACATTATATATTATATAATATATAATATACATTATATATTATA TAATATATAATATACATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0339 a0002c0005t0002g0339	1	365	0.0027	180	c.562 others(197): Show c.562-1084_562-1083insTTATATAATATATAATGTATATTATATA TTATATAATATATAATGTATATTATATATTATATAATATATAATGTATAT TATATAATATATAATGTATATTATATAATATAATGTATATTATATATTAT ATAATATATAATGTATATTATATAATATATAATGTATATTATATATTATA TA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642166	G G	GGGGGGCC others(173): Show GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG01109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0003g0077 a0001c0001t0001g0036 a0001c0001t0003g0077	2	422	0.0047	180	c.65 others(191): Show c.6547_*6548insAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4448		chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43905317	C C	CTGCCACT others(173): Show CTGCCACTTTTCCTTCCCCTCTTCCTGTTTCTCTTCCTACCACTCTTCTT TCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTGTTTCCTTTCCCGC CACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCACTCTTCCCCCTCC TCCTCCTGCTCCTCTCCCACCACTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG01074.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0035 a0001c0001t0004g0040	2	274	0.0073	180	c.744 others(197): Show c.744+5590_744+5591insTGCCACTTTTCCTTCCCCTCTTCCTGTT TCTCTTCCTACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCA TCCTCCTGTTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCT TCCCACCACTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCC CT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906073	T T	TTTCCTCC others(173): Show TTTCCTCCCCCTCCTCCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCT TCCTGCTCCTCTTCCCACCACTGTTCCTCCCCCTCCTCCTGTTCCCCTTC CTGCCACTCTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCT CCCCCTCCTCCTGTTCCCCTTCCTGCCACTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	274	0.0037	180	c.744 others(197): Show c.744+6508_744+6509insTTCCCCTTCCTGCCACTCTTCCTCCCCC TCCTCCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCTTCCTGCTCCTC TTCCCACCACTGTTCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTT CCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCC TG	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STOML3_chr13_38960925_38995831	38988475	T T	TATATTAT others(173): Show TATATTATATTTTATATCATATATTTTATATAAAATATATGATATTTTAT ATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTTATA TAAAATATATGATATTTTATATCATATATTTTATATAAAATATATGATAT TTTATATCATATATTTTATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	396	0.0025	180	c.52+ others(195): Show c.52+2194_52+2195insCATATATTTTATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATCATATATTTT ATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATGA TATAAAATATCATATATTTTATATAAAATATATGATATAAAATATAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SULT1B1_chr4_69716167_69765620	69762359	G G	GGGGGGGG others(173): Show GGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0228 a0001c0001t0023g0228	1	408	0.0025	180	c.-19 others(191): Show c.-1946_-1945insTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1740		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGG others(173): Show GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01928.hp1 HG02083.hp1 others(10): Show HG01361.hp2 HG01928.hp1 HG02083.hp1 HG02135.hp1 HG02698.hp2 NA18612.hp2 NA18953.hp2 NA18965.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0151 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153	a0001c0001t0003g0001 a0001c0001t0007g0004 a0001c0001t0007g0024 others(4): Show a0001c0001t0003g0001 a0001c0001t0007g0004 a0001c0001t0007g0024 a0001c0001t0007g0288 a0001c0001t0151g0286 a0001c0001t0152g0289 a0001c0001t0153g0287	13	408	0.0319	180	c.-19 others(191): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762406	G G	GGTGAGGG others(173): Show GGTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0256 a0001c0001t0092g0256	1	408	0.0025	180	c.-19 others(191): Show c.-1993_-1992insTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCTCAC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1787		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762432	C C	CCCTACTG others(173): Show CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCACGTCCAG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0128 a0001c0001t0095g0128	1	408	0.0025	180	c.-20 others(191): Show c.-2019_-2018insAGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCTG GACGTGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1813		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762432	C C	CCCTACTG others(173): Show CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(75): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01168.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 a0001c0001t0044 a0001c0001t0052 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0083 a0001c0001t0112 a0001c0001t0136 a0001c0001t0137 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0148 a0001c0001t0150 a0001c0006t0006	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0060 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0002g0002 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0009g0008 a0001c0001t0009g0051 a0001c0001t0013g0014 a0001c0001t0013g0020 a0001c0001t0018g0012 a0001c0001t0024g0054 a0001c0001t0024g0234 a0001c0001t0024g0236 a0001c0001t0028g0023 a0001c0001t0028g0237 a0001c0001t0034g0053 a0001c0001t0044g0261 a0001c0001t0044g0269 a0001c0001t0044g0273 a0001c0001t0052g0055 a0001c0001t0059g0122 a0001c0001t0059g0280 a0001c0001t0061g0057 a0001c0001t0065g0260 a0001c0001t0065g0265 a0001c0001t0083g0251 a0001c0001t0112g0281 a0001c0001t0136g0275 a0001c0001t0137g0276 a0001c0001t0139g0279 a0001c0001t0140g0271 a0001c0001t0141g0268 a0001c0001t0142g0262 a0001c0001t0144g0266 a0001c0001t0145g0267 a0001c0001t0146g0263 a0001c0001t0148g0274 a0001c0001t0150g0270 a0001c0006t0006g0061	78	408	0.1912	180	c.-20 others(191): Show c.-2019_-2018insAGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1813		chr4	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(173): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCCCCCCCGC CCCCCGTCCCACCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCG GGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCA CTGTCTCCCCACCATCTCCATGGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	418	0.0024	180	c.198 others(197): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCCCCCCCGCCCCCCGTCCCACCGGGCCTTCGCCCCCACTGTCT CCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCG TGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGCCCC CC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SV2C_chr5_76078383_76338956	76172178	C C	CGCCCCTA others(173): Show CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCGTCTGCCCGGCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0044 a0001c0001t0018g0044	1	234	0.0043	180	c.581 others(199): Show c.581-22696_581-22695insTGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCGTC TGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYK_chr9_90796819_90903549	90884654	C C	CATATGTG others(173): Show CATATGTGTACATGTACATATATACACATACACATGTGTACATGTACATA TATACACATACACATATGTGTACATGTACATATATACACATACACATGTG TACATGTACATATATACACATACACATGTGTACATGTACATATATACACA TACACATGTGTACATGTACATATATACACAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	376	0.0027	180	c.158 others(199): Show c.1582-3094_1582-3093insTATGTGTACATGTACATATATACACA TACACATGTGTACATGTACATATATACACATACACATATGTGTACATGTA CATATATACACATACACATGTGTACATGTACATATATACACATACACATG TGTACATGTACATATATACACATACACATGTGTACATGTACATATATACA CATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884658	T T	TATGTGTA others(173): Show TATGTGTACATGTACATATATACACATACACATGTGTACATGTACATATA TACACATACACATGTGTACATGTACATATATACACATACATATGTGTACA TGTACATATATACACATACACATGTGTACATGTACATATATACACATACA CATGTGTACATGTACATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	376	0.0027	180	c.158 others(199): Show c.1582-3064_1582-3063insCACATGTGTACATGTACATATATACA CATACACATGTGTACATGTACATATATACACATACATATGTGTACATGTA CATATATACACATACACATGTGTACATGTACATATATACACATACACATG TGTACATGTACATATATACACATACACATGTGTACATGTACATATATACA CATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884743	A A	ATACACAT others(173): Show ATACACATATACACATATACACATATGTGTACATACACATATATACACAT ATACACATATACACATATGTGTACATACACATATACACATATACACATAT GTGTGTATGCACATATACACATATGTGTGTATGCACATATACACATATGT GTGTATGCACATATACACATATGTGTGTATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0051 a0001c0005t0012g0051	1	376	0.0027	180	c.158 others(199): Show c.1582-3006_1582-3005insTACACATATACACATATACACATATG TGTACATACACATATATACACATATACACATATACACATATGTGTACATA CACATATACACATATACACATATGTGTGTATGCACATATACACATATGTG TGTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTG TATG	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar

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