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
S100A6_chr1_153529599_153540991	153535683	A A	AAACAGAA others(183): Show AAACAGAAACAAAATAACGAAAAACAAAAAACAAAAAAAAATAACAAAAA GACAAGAAAATAAAAAAAACAAACAAAAGAACCAAAAAAAAAAAACCACA AGAAAAAAACAAATAAAAACAACCAAAAACCCACAAAAACAAAAAACCAA AAACAAAAAAAAAAAACCATCAAAAGAAAGAAAAAACCCAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	378	0.0026	190	c.-22 others(205): Show c.-22+265_-22+266insGTGGGTTTTTTCTTTCTTTTGATGGTTTTT TTTTTTTGTTTTTGGTTTTTTGTTTTTGTGGGTTTTTGGTTGTTTTTATT TGTTTTTTTCTTGTGGTTTTTTTTTTTTGGTTCTTTTGTTTGTTTTTTTT ATTTTCTTGTCTTTTTGTTATTTTTTTTTGTTTTTTGTTTTTCGTTATTT TGTTTCTGTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding	1/2			chr1	TogoVar
SARDH_chr9_133658560_133743352	133668494	A A	ATCCTCCC others(183): Show ATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCA CCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCA TCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG01167.hp2 HG01884.hp2	a0006 a0006	a0006c0038 a0006c0062 a0006c0038 a0006c0062	a0006c0038t0001 a0006c0062t0001 a0006c0038t0001 a0006c0062t0001	a0006c0038t0001g0092 a0006c0062t0001g0040 a0006c0038t0001g0092 a0006c0062t0001g0040	2	255	0.0078	190	c.249 others(209): Show c.2496-1625_2496-1624insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT GAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTG AGGGAGAGGGAGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(183): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	182	0.0055	190	c.632 others(207): Show c.632+8123_632+8312dupCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C1_chr11_188078_199575	196510	C C	CTGGTGAG others(183): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01433.hp2 others(3): Show HG00280.hp1 HG00738.hp1 HG01433.hp2 HG01934.hp1 HG02004.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	266	0.0226	190	c.20 others(201): Show c.2060_*2061insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1936		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(183): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGG GGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	136	0.0074	190	c.464 others(203): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGG GTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGT GGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288419	T T	TCCCCCGT others(183): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	239	0.0042	190	c.166 others(207): Show c.1662+385_1662+386insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289533	C C	CTCTGCCC others(183): Show CTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0059 a0028c0024t0001g0059	1	285	0.0035	190	c.166 others(207): Show c.1663-738_1663-737insTCTGCCCCGTCCCGTGTCTCTGCTCCAT TCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTC CCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCT CCGTCCCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(183): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	76	0.0132	190	c.691 others(209): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC TTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(183): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	181	0.0055	190	c.165 others(207): Show c.165+5261_165+5450dupGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CACTCACA others(183): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCGACCCGCTC ACACCCGGCCCCGCTCACCCCCGCCCCGCTCACACCCGCCCCGCTCACCC CGGACCCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCAG CCCCGCTCACACCCGCCCCGCTCACCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	171	0.0058	190	c.36 others(201): Show c.3641_*3642insTGTGAGCGGGGTCCCGGTGAGCGGGGCGGGTGTG AGCGGGGCTGGGGTGAGCGGGGCCGGGGTGAGCGGGTCGGGGGTGAGCGG GGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGGGTGAGCGGGGC CGGGTGTGAGCGGGTCGGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGGGT GTGAGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3461		chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270749	T T	TGTATATA others(183): Show TGTATATATATATATATATATATATATATATACTCTAAGTATTATATATT ATATACTCCAAAACTGTGTGTGTGTGTATATATATATATATATGTATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0162 a0001c0002t0005g0162	1	263	0.0038	190	c.240 others(209): Show c.2402+1016_2402+1017insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATGTATATATATATATA TTTATACACACATATATATACATACACATATATATATACACACACACACA GAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATATA TATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(183): Show GTATATATATATATATATATATACTCTAAGTATTATATATTATATACTCC AAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0134 a0003c0005t0002g0134	1	166	0.0060	190	c.240 others(209): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270752	A A	ATATATAT others(183): Show ATATATATATATATATATATATATATACTCTAAGTATTATATATTATATA CTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATAT ATATATATTTATACACACATATATATACATACACATATATATATACACAC ACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	236	0.0042	190	c.240 others(209): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATA	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(183): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATATATATTTATACACACATATATATACATACACATATATATATACACAC ACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0258 a0001c0001t0006g0258	1	156	0.0064	190	c.240 others(209): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATATATATATATATATTTATACACACATATATATACATACACATA TATATATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTT AGAGTATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35F3_chr1_233899676_234329511	234139951	T T	TAATAAAA others(183): Show TAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	39	0.0256	190	c.284 others(209): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42579528	T T	TCATCAGA others(183): Show TCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGC CCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCACATC AGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGC CCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp2 HG02559.hp1 others(3): Show HG01081.hp2 HG01261.hp2 HG02559.hp1 HG02818.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0006g0030 a0001c0001t0008g0035 a0001c0001t0008g0036 others(3): Show a0001c0001t0006g0030 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0011g0189	6	168	0.0357	190	c.152 others(207): Show c.1522-190_1522-189insTCATCAGACAGCCCTGCCCTCATCAGAC AGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCAC ATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCC TGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCACATCAG ACAGCCCTGCCC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC39A8_chr4_102256666_102350482	102278551	T T	TTTATGTG others(183): Show TTTATGTGGCCAAAAAACATATGAAAAAAAGCTCATCATCACTGGTCATT AGAGAAATGCAAACCAAAATCACAATGAGATACCATCTCATGCTAGTTAG AATGGAGATCATTAAAAAGTCAGGAAACAACGATGCTGGAGAGGATGTGG AGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02148.hp2 HG02451.hp1 others(1): Show HG00639.hp2 HG02148.hp2 HG02451.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0068 a0001c0001t0008g0213 a0001c0001t0008g0006 a0001c0001t0008g0068 a0001c0001t0008g0213	4	264	0.0152	190	c.841 others(209): Show c.841-10473_841-10472insGTTTACAGTCCCACCAACAGTGTAAA AGTGTTCCTATTTCTCCACATCCTCTCCAGCATCGTTGTTTCCTGACTTT TTAATGATCTCCATTCTAACTAGCATGAGATGGTATCTCATTGTGATTTT GGTTTGCATTTCTCTAATGACCAGTGATGATGAGCTTTTTTTCATATGTT TTTTGGCCACATAA	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	6/8			chr4	TogoVar
SLC41A2_chr12_104796801_104963290	104923206	C C	CAAAAAAT others(183): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01261.hp2 others(21): Show HG00438.hp2 HG00741.hp2 HG01261.hp2 HG01358.hp2 HG01934.hp1 HG02074.hp2 HG02897.hp2 HG03225.hp2 HG03579.hp1 HG03669.hp2 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp2 NA18962.hp1 NA18967.hp1 NA18987.hp2 NA18991.hp2 NA19000.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0052 a0001c0001t0053	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0230 others(21): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0004g0274 a0001c0001t0010g0308 a0001c0001t0011g0206 a0001c0001t0011g0364 a0001c0001t0028g0226 a0001c0001t0028g0288 a0001c0001t0030g0213 a0001c0001t0030g0214 a0001c0001t0031g0259 a0001c0001t0031g0281 a0001c0001t0052g0328 a0001c0001t0053g0256	24	303	0.0792	190	c.555 others(207): Show c.555+4766_555+4767insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCC TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	2/10			chr12	TogoVar
SLC41A2_chr12_104796801_104963290	104923206	C C	CAAAAAAT others(183): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTATTGG GGAGGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0369 a0001c0001t0062g0369	1	280	0.0036	190	c.555 others(207): Show c.555+4766_555+4767insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCC TGCCTCAGCCTCCCCAATAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	2/10			chr12	TogoVar
SLC6A11_chr3_10811228_10945714	10873419	C C	CCTATCCT others(183): Show CCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTACACTATCCTAT CCTATCCTATGCCATGCCATGCCATCCTATCCTATCCTATCCTATGCTAT GCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTAT GCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01255.hp2 HG01346.hp1 others(6): Show HG01069.hp2 HG01255.hp2 HG01346.hp1 HG01934.hp1 HG01981.hp1 NA18952.hp1 NA18953.hp2 NA18969.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 a0001c0001 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0009t0002 a0001c0010t0001 a0001c0001t0001 a0001c0009t0002 a0001c0010t0001	a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 others(6): Show a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0305 a0001c0009t0002g0054 a0001c0010t0001g0085 a0001c0010t0001g0088 a0001c0010t0001g0089	9	360	0.0250	190	c.757 others(207): Show c.757-1533_757-1532insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATGCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A1_chr3_10987748_11044247	11030754	G G	GTGGGATG others(183): Show GTGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	381	0.0026	190	c.132 others(207): Show c.1324-387_1324-386insGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGG ATGGGATGGGAT	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(183): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	208	0.0048	190	c.115 others(207): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(183): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC AGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02976.hp2 others(1): Show HG02257.hp2 HG02572.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0292 a0001c0001t0010g0361 a0001c0001t0010g0007 a0001c0001t0010g0292 a0001c0001t0010g0361	4	211	0.0190	190	c.115 others(207): Show c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACC CAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC TGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCA CCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414498	G G	GGGGAAGG others(183): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC GGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02976.hp1 others(2): Show HG02258.hp1 HG02280.hp1 HG02976.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0011 a0001c0009t0005g0021 a0001c0009t0005g0022 others(2): Show a0001c0009t0005g0011 a0001c0009t0005g0021 a0001c0009t0005g0022 a0001c0009t0005g0023 a0001c0009t0005g0042	5	299	0.0167	190	c.115 others(207): Show c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTG CCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414500	G G	GGAAGGCA others(183): Show GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTG GAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0024 a0001c0003t0008g0024	1	371	0.0027	190	c.115 others(207): Show c.1156+190_1156+191insTCTGCCCTGACCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(183): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATAATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG02055.hp1 others(2): Show HG00735.hp1 HG01074.hp1 HG02055.hp1 HG02965.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0008 a0001c0001t0009 a0001c0001t0046 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0046 a0001c0002t0001 a0002c0003t0009	a0001c0001t0008g0067 a0001c0001t0009g0170 a0001c0001t0046g0030 others(2): Show a0001c0001t0008g0067 a0001c0001t0009g0170 a0001c0001t0046g0030 a0001c0002t0001g0096 a0002c0003t0009g0155	5	143	0.0350	190	c.151 others(209): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATATTATATATAATATATATAAAA TATATATATTATATATAATATATATAAAATATATATATATAAAAAATATA TATTATATAATATATATAAAATATATATATTATATAATATATATATAATA TATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(183): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATAATATATATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG02486.hp1 HG00741.hp1 HG01361.hp2 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0051 a0002c0003t0001 a0001c0001t0003 a0001c0001t0051 a0002c0003t0001	a0001c0001t0003g0065 a0001c0001t0051g0167 a0002c0003t0001g0054 a0001c0001t0003g0065 a0001c0001t0051g0167 a0002c0003t0001g0054	3	141	0.0213	190	c.151 others(209): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATATTATATATAATATATATAAAA TATATATATTATATATAATATATATAAAATATATATATATAAAAAATATA TATTATATAATATATATAAAATATATATATTATATAATATATATATATAA TATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT2_chr4_20246905_20625561	20472555	G G	GATATATC others(183): Show GATATATCTATATAGATATAGATATATCTATATAGATATATATAGATATA TCTATATATATCGATATATATCGATATATATAGATATATCGATATATAGA TATATCTATATATATCGATATATATCGATATATCTATATATATCGATATA TATCGATATATCTATATATATCGATATATATAGATATATCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	94	0.0106	190	c.467 others(207): Show c.467+4738_467+4739insCTATATAGATATAGATATATCTATATAG ATATATATAGATATATCTATATATATCGATATATATCGATATATATAGAT ATATCGATATATAGATATATCTATATATATCGATATATATCGATATATCT ATATATATCGATATATATCGATATATCTATATATATCGATATATATAGAT ATATCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472591	T T	TATATAGA others(183): Show TATATAGATATATCTATATATATCGATATATATCGATATATATAGATATA TCGATATATAGATATATCTATATATATCGATATATATCGATATATCTATA TATATCGATATATCTAGATATATCTATATATATCGATATATCTAGATATA TCTATATATATCGATATATCTATATATATCGATATATCTAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0026 a0001c0024t0004 a0001c0002t0026 a0001c0024t0004	a0001c0002t0026g0011 a0001c0024t0004g0211 a0001c0002t0026g0011 a0001c0024t0004g0211	2	186	0.0108	190	c.467 others(207): Show c.467+4773_467+4774insGATATATCTATATATATCGATATATATC GATATATATAGATATATCGATATATAGATATATCTATATATATCGATATA TATCGATATATCTATATATATCGATATATCTAGATATATCTATATATATC GATATATCTAGATATATCTATATATATCGATATATCTATATATATCGATA TATCTAGATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472591	T T	TCTATATA others(183): Show TCTATATAGATATATCTATATAGATATATCTATATCTATATATATATCTA TATAGATATATCTATATATATAGATATATATCTAGATATATATCTATATA TATATAGATATATCTATATAGATATATCTATATAGATATATCTATATATA TCTATATATATAGATATATCTATATATATCGATATATATAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0161 a0001c0002t0014g0161	1	185	0.0054	190	c.467 others(207): Show c.467+4768_467+4769insCTATATAGATATATCTATATAGATATAT CTATATCTATATATATATCTATATAGATATATCTATATATATAGATATAT ATCTAGATATATATCTATATATATATAGATATATCTATATAGATATATCT ATATAGATATATCTATATATATCTATATATATAGATATATCTATATATAT CGATATATATAG	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472591	T T	TCTATATA others(183): Show TCTATATAGATATATCTATATATATATATCTATATCTATATATATATCTA TATAGATATATCTATATATATAGATATATATCTAGATATATATCTATATA TATATAGATATATCTATATAGATATATCTATATAGATATATCTATATATA TCTATATATATAGATATATCTATATATATCGATATATATAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02165.hp2 NA18998.hp1 others(1): Show HG02055.hp1 HG02165.hp2 NA18998.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0005 a0001c0001t0014 a0001c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0002t0002 a0001c0007t0012	a0001c0001t0005g0058 a0001c0001t0014g0133 a0001c0002t0002g0112 others(1): Show a0001c0001t0005g0058 a0001c0001t0014g0133 a0001c0002t0002g0112 a0001c0007t0012g0214	4	188	0.0213	190	c.467 others(207): Show c.467+4768_467+4769insCTATATAGATATATCTATATATATATAT CTATATCTATATATATATCTATATAGATATATCTATATATATAGATATAT ATCTAGATATATATCTATATATATATAGATATATCTATATAGATATATCT ATATAGATATATCTATATATATCTATATATATAGATATATCTATATATAT CGATATATATAG	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(183): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0239 a0001c0001t0108g0239	1	153	0.0065	190	c.784 others(205): Show c.784+877_784+878insTAATATATAAAATATATATTATACATAATA TATATAATATATAAAATATATATTATACATAATATATAATATATATAATA TATATTATACATAATATATATAATATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(183): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTTTATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0211 a0001c0001t0105g0211	1	153	0.0065	190	c.784 others(205): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATAAAATA TATATTATACATAATATATATAATATATAAAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(183): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATTATATATATTATGTATAATATATATTATATATATTATATATATTATG TATAATATATATTTTATATATTATATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0229 a0001c0001t0013g0229	1	153	0.0065	190	c.784 others(205): Show c.784+877_784+878insTAATATATAAAATATATATTATACATAATA TATATAATATATAAAATATATATTATACATAATATATATAATATATAAAA TATATATTATACATAATATATATAATATATATAATATATATTATACATAA TATATATAATATATATAATATATAATATATATTATACATAATATATATAA TATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(183): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02273.hp2 NA19007.hp2 others(1): Show HG02135.hp1 HG02273.hp2 NA19007.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	4	5	0.8000	190	c.17 others(201): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SNX9_chr6_157818246_157950077	157849651	T T	TAGAAAGT others(183): Show TAGAAAGTAGAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	299	0.0033	190	c.13- others(207): Show c.13-17886_13-17885insATTAGCCGGGCGTGGTAGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAAGTAGA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7661241	T T	TGCAGAGA others(183): Show TGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCC AACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCCAACCCCCTCAGC TCACTCAAGGAAAACGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAA AACGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0034 a0003c0012t0034	a0003c0012t0034g0010 a0003c0012t0034g0010	1	126	0.0079	190	c.888 others(205): Show c.888-170_888-169insCCCCCTCAGCTCACTCAAGGAAAACGCAGA GACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCCAACCCC CTCAGCTCACTCAAGGAAAACGCAGAGACTCCAACCCCCTCAGCTCACTC AAGGAAAACGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCA GAGACTCCAA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(183): Show TTATATTTATATAATATATAAGATATATTTATATTTATATAATATATAAG ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG01261.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0098 a0001c0001t0094 a0001c0001t0098	a0001c0001t0094g0133 a0001c0001t0098g0138 a0001c0001t0094g0133 a0001c0001t0098g0138	2	95	0.0211	190	c.481 others(207): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(183): Show TTATATTTATATAATATATAATATATATTTATATTTATATAATATATAAG ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0033 a0001c0001t0065g0033	1	94	0.0106	190	c.481 others(207): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATATTATATAT TATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(183): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	44	0.0227	190	c.190 others(209): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTATATAAATATATATTTATATATATTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(183): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0149 a0001c0002t0016g0149	1	338	0.0030	190	c.63 others(201): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GTGGTGGG others(183): Show GTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	338	0.0030	190	c.63 others(201): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCACCA	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
STOX2_chr4_183900307_184028526	183932303	G G	GTGTATAC others(183): Show GTGTATACATACATGTATATGTATGTATACATACAGTATATGTATGTATA CATACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAGT ATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTAT GTATACATACAGTATATGTATGTATACATACAGTATATGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp2 HG02965.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0023 a0001c0001t0021 a0001c0002t0023	a0001c0001t0021g0172 a0001c0002t0023g0168 a0001c0001t0021g0172 a0001c0002t0023g0168	2	245	0.0082	190	c.166 others(209): Show c.166+25359_166+25360insTGTATATGTATGTATACATACAGTAT ATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGT ATACATACAGTATATGTATGTATACATACAGTATATGTATGTATACATAC AGTATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATG TATGTATACATACA	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(183): Show TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATACGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATACTTATATATATATACTTATATAAGTATAT ATATACTTATATAAGTATATATATACTTATATATACTTATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03139.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG03139.hp1 NA19030.hp2	a0004 a0005 a0012 others(1): Show a0004 a0005 a0012 a0108	a0004c0089 a0005c0092 a0012c0026 others(1): Show a0004c0089 a0005c0092 a0012c0026 a0108c0154	a0004c0089t0001 a0005c0092t0001 a0012c0026t0001 others(1): Show a0004c0089t0001 a0005c0092t0001 a0012c0026t0001 a0108c0154t0003	a0004c0089t0001g0090 a0005c0092t0001g0089 a0012c0026t0001g0126 others(1): Show a0004c0089t0001g0090 a0005c0092t0001g0089 a0012c0026t0001g0126 a0108c0154t0003g0360	4	201	0.0199	190	c.982 others(207): Show c.9823-755_9823-754insTATAAGTATATATAAGTATATATATACT TATATAAGTATATATATACTTATATAAGTATATATATATAAGTATATATA TACGTATATATATACTTATATAAGTATATATATAAGTATATATATACGTA TATATATACTTATATAAGTATATATATACGTATATATACACATACTTATA TAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYNPR_chr3_63273308_63621924	63408326	A A	AAGAAAGA others(183): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	244	0.0041	190	c.85- others(207): Show c.85-72495_85-72494insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF4_chr20_61969798_62070881	61979617	A A	ATGGCCAC others(183): Show ATGGCCACTCCAGAGGGACTGCGGCCCGTGCAGGCGCCATGGCCACTCCA GAGGGACTGCGGCCCGTGCAGGCGCGATGGCCACTCCAGAGGGACTGTGG CCCGTGCAGGCGCGGTGGCCACTCCAGAGGTACTGCGGCATGTGCAGGCG CCGTGGCCACTCCAGAGGGACTGCGGCATGTGCAGGCGCCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp1 HG02615.hp2 others(4): Show HG01074.hp1 HG01361.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0048 others(4): Show a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0055	7	312	0.0224	190	c.309 others(209): Show c.3091-3472_3091-3283dupCGGCGCCTGCACATGCCGCAGTCCCT CTGGAGTGGCCACGGCGCCTGCACATGCCGCAGTACCTCTGGAGTGGCCA CCGCGCCTGCACGGGCCACAGTCCCTCTGGAGTGGCCATCGCGCCTGCAC GGGCCGCAGTCCCTCTGGAGTGGCCATGGCGCCTGCACGGGCCGCAGTCC CTCTGGAGTGGCCA	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(183): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	111	0.0090	190	c.-23 others(209): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(183): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTC CTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	110	0.0091	190	c.10 others(203): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGGAG AGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(183): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTC CTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02109.hp2 HG02145.hp1 others(6): Show HG02040.hp1 HG02109.hp2 HG02145.hp1 HG02647.hp2 HG02818.hp1 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0009c0031	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0003t0005 a0001c0006t0003 a0009c0031t0005	a0001c0001t0003g0281 a0001c0001t0003g0291 a0001c0001t0005g0095 others(6): Show a0001c0001t0003g0281 a0001c0001t0003g0291 a0001c0001t0005g0095 a0001c0001t0005g0288 a0001c0001t0012g0201 a0001c0003t0005g0111 a0001c0003t0005g0274 a0001c0006t0003g0135 a0009c0031t0005g0204	9	118	0.0763	190	c.10 others(203): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGG AGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGGAG AGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCTCC others(183): Show CCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTC CTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02897.hp1 HG03704.hp1 others(1): Show HG01361.hp1 HG02897.hp1 HG03704.hp1 NA18973.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0030 a0001c0001 a0001c0003 a0010c0030	a0001c0001t0007 a0001c0001t0034 a0001c0003t0021 others(1): Show a0001c0001t0007 a0001c0001t0034 a0001c0003t0021 a0010c0030t0070	a0001c0001t0007g0229 a0001c0001t0034g0108 a0001c0003t0021g0056 others(1): Show a0001c0001t0007g0229 a0001c0001t0034g0108 a0001c0003t0021g0056 a0010c0030t0070g0261	4	113	0.0354	190	c.10 others(203): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGG AGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGG AGGAGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar

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