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
SH2D1B_chr1_162390268_162417136	162403511	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0117 a0001c0001t0012g0117	1	340	0.0029	17	c.135 others(32): Show c.135-710_135-709insATTTTTTTTTTTTTTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3			chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01123.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0001 a0001c0001t0001g0085	2	63	0.0317	17	c.-34 others(26): Show c.-340_-339insGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4A_chr8_19308693_19401218	19358526	G G	GGAGCAAT others(10): Show GGAGCAATGTGGATGTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	352	0.0028	17	c.594 others(34): Show c.594+1244_594+1260dupGAGCAATGTGGATGTCT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4A_chr8_19308693_19401218	19382823	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp1 HG02258.hp1 others(9): Show HG00735.hp1 HG01978.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03688.hp1 HG04228.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0004 a0002c0005 others(2): Show a0001c0001 a0002c0004 a0002c0005 a0003c0002 a0006c0034	a0001c0001t0002 a0002c0004t0002 a0002c0004t0007 others(4): Show a0001c0001t0002 a0002c0004t0002 a0002c0004t0007 a0002c0005t0002 a0002c0005t0025 a0003c0002t0002 a0006c0034t0007	a0001c0001t0002g0220 a0002c0004t0002g0087 a0002c0004t0002g0089 others(8): Show a0001c0001t0002g0220 a0002c0004t0002g0087 a0002c0004t0002g0089 a0002c0004t0002g0161 a0002c0004t0007g0124 a0002c0004t0007g0253 a0002c0005t0002g0005 a0002c0005t0002g0098 a0002c0005t0025g0342 a0003c0002t0002g0034 a0006c0034t0007g0123	12	246	0.0488	17	c.104 others(36): Show c.1048+9172_1048+9188dupTTTTTTTTTTTTTTTTT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4B_chr10_80532902_80651560	80534952	C C	CCCCCGCC others(10): Show CCCCCGCCCGGCCAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00733.hp2 others(21): Show HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01175.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG04184.hp1 NA19030.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0009	a0001c0001 a0001c0010 a0001c0011 others(5): Show a0001c0001 a0001c0010 a0001c0011 a0002c0002 a0002c0007 a0006c0008 a0007c0020 a0009c0009	a0001c0001t0002 a0001c0010t0001 a0001c0010t0019 others(9): Show a0001c0001t0002 a0001c0010t0001 a0001c0010t0019 a0001c0011t0001 a0002c0002t0001 a0002c0007t0001 a0002c0007t0002 a0002c0007t0010 a0006c0008t0001 a0007c0020t0001 a0009c0009t0001 a0009c0009t0027	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(20): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0010t0001g0015 a0001c0010t0001g0018 a0001c0010t0019g0019 a0001c0011t0001g0027 a0002c0002t0001g0017 a0002c0007t0001g0001 a0002c0007t0001g0009 a0002c0007t0001g0016 a0002c0007t0001g0020 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0010g0005 a0006c0008t0001g0186 a0006c0008t0001g0187 a0007c0020t0001g0010 a0007c0020t0001g0026 a0009c0009t0001g0014 a0009c0009t0001g0023 a0009c0009t0001g0025 a0009c0009t0027g0022	24	320	0.0750	17	c.-33 others(28): Show c.-3380_-3379insCCCCGCCCGGCCAGCCG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		2949		chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572986	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19078.hp1 NA18612.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0221 a0002c0002t0002g0229 a0002c0002t0001g0221 a0002c0002t0002g0229	2	167	0.0120	17	c.495 others(34): Show c.495+1409_495+1410insATATATATATATATATT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572986	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0292 a0002c0002t0001g0292	1	166	0.0060	17	c.495 others(34): Show c.495+1409_495+1410insATATATATATTTTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80600526	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	320	0.0031	17	c.644 others(34): Show c.644-3052_644-3036dupGTGTGTGTGTGTGTGTG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	254	0.0039	17	c.-30 others(28): Show c.-3068_-3067insTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH2D7_chr15_78087561_78109362	78089533	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02895.hp1 others(3): Show HG02258.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 a0001c0001t0001 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0057 a0002c0002t0001g0016 a0003c0003t0002g0052 a0001c0001t0001g0057 a0002c0002t0001g0016 a0003c0003t0002g0052	6	420	0.0143	17	c.-30 others(28): Show c.-3052_-3051insTTTTTTTTTTTGTTTTG	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3027		chr15	TogoVar
SH3BGRL2_chr6_79626329_79708655	79648279	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	272	0.0037	17	c.45+ others(34): Show c.45+16777_45+16778insATATATATATATAATAT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BGRL2_chr6_79626329_79708655	79679758	T T	TTACAATG others(10): Show TTACAATGTGTAATCTAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	346	0.0029	17	c.231 others(34): Show c.231+5960_231+5961insACAATGTGTAATCTACT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BGRL_chrX_81197102_81303547	81300572	T T	TGCCTTTT others(10): Show TGCCTTTTAGATCTTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	241	0.0041	17	c.33 others(28): Show c.3345_*3346insGCCTTTTAGATCTTGTC	SH3BGRL	ENSG00000131171.13	transcript	ENST00000373212.6	protein_coding		2026		chrX	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp2 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0257 a0001c0002t0002g0122 a0001c0002t0002g0257	2	66	0.0303	17	c.118 others(34): Show c.118+1622_118+1623insAAAAAAAAAAAAAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15320605	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	100	0.0100	17	c.201 others(34): Show c.201+9898_201+9899insGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320640	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01071.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0211 a0001c0002t0001g0212	2	340	0.0059	17	c.201 others(34): Show c.201+9863_201+9864insGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3GL2_chr9_17574066_17802124	17758561	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03669.hp2 NA18612.hp1 others(2): Show HG00673.hp2 HG03669.hp2 NA18612.hp1 NA18961.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0141 a0001c0001t0001g0242	5	23	0.2174	17	c.115 others(34): Show c.115-2858_115-2842dupAAAAAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL3_chr15_83442341_83623743	83576921	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0128 a0001c0001t0003g0129 a0001c0001t0001g0128 a0001c0001t0003g0129	2	89	0.0225	17	c.624 others(32): Show c.624+194_624+195insTTTTTTTTTTTTTTTTT	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3GLB1_chr1_86699576_86753184	86724880	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	302	0.0033	17	c.570 others(32): Show c.570+475_570+476insTATATATATATATATAT	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8			chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724886	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03139.hp1 HG02895.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	2	296	0.0068	17	c.570 others(32): Show c.570+481_570+482insTATATATATATATATAT	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8			chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724888	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0196 a0001c0001t0006g0196	1	250	0.0040	17	c.570 others(32): Show c.570+483_570+484insTATATATATATATATAT	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8			chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19551550	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0041	1	155	0.0065	17	c.138 others(36): Show c.1385-1468_1385-1467insAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19565051	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	100	0.0100	17	c.138 others(36): Show c.1384+4035_1384+4051dupAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19567547	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	191	0.0052	17	c.138 others(36): Show c.1384+1555_1384+1556insATATATATATATATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19567549	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp1 HG02559.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0168 a0001c0001t0001g0171	2	184	0.0109	17	c.138 others(36): Show c.1384+1553_1384+1554insATATATATATATATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19670839	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0066 a0001c0003t0009g0066	1	124	0.0081	17	c.726 others(36): Show c.726+12983_726+12984insTTTTTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	6/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103662341	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0018 a0001c0002t0036g0018	1	149	0.0067	17	c.473 others(34): Show c.473-1228_473-1227insCCCCCCCCCCCCCCCCC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	7/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329540	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp2 HG02257.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0074 a0001c0001t0049 a0001c0001t0074	a0001c0001t0049g0026 a0001c0001t0074g0211 a0001c0001t0049g0026 a0001c0001t0074g0211	2	111	0.0180	17	c.88 others(28): Show c.8828_*8829insAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		3958		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172366932	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0184 a0001c0002t0060g0184	1	130	0.0077	17	c.428 others(34): Show c.428-4080_428-4064dupAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172434782	G G	GTTTTTGT others(10): Show GTTTTTGTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0270 a0001c0001t0011g0270	1	215	0.0047	17	c.76- others(34): Show c.76-12287_76-12286insAAACAAAAAAACAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169270435	C C	CCGGGGAC others(10): Show CCGGGGACACAAATCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	214	0.0047	17	c.-96 others(32): Show c.-96+407_-96+423dupAGGGATTTGTGTCCCCG	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	1/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146047178	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	270	0.0037	17	c.106 others(34): Show c.1060-594_1060-593insGTGTGTGTGTGTGTGTG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109441132	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	68	0.0147	17	c.182 others(36): Show c.1828+4000_1828+4001insAAAAAAAAAAAAAAAAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50660213	C C	CGGGAATA others(10): Show CGGGAATAAGCGGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(70): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18974.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0016 a0018	a0001c0002 a0001c0003 a0001c0004 others(15): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0021 a0001c0039 a0002c0001 a0003c0005 a0003c0006 a0004c0017 a0005c0022 a0007c0035 a0016c0029 a0018c0024	a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 others(41): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0001c0002t0100 a0001c0002t0104 a0001c0003t0001 a0001c0003t0006 a0001c0003t0036 a0001c0003t0044 a0001c0003t0111 a0001c0004t0001 a0001c0004t0014 a0001c0010t0001 a0001c0011t0001 a0001c0011t0006 a0001c0012t0001 a0001c0012t0006 a0001c0012t0014 a0001c0015t0001 a0001c0016t0073 a0001c0021t0006 a0001c0039t0006 a0002c0001t0001 a0002c0001t0006 a0002c0001t0039 a0002c0001t0055 a0002c0001t0056 a0002c0001t0057 a0003c0005t0014 a0003c0006t0001 a0003c0006t0006 a0003c0006t0014 a0003c0006t0045 a0003c0006t0101 a0004c0017t0001 a0005c0022t0001 a0007c0035t0069 a0016c0029t0001 a0018c0024t0079	a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(69): Show a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0140 a0001c0002t0001g0150 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0001g0251 a0001c0002t0001g0261 a0001c0002t0006g0111 a0001c0002t0006g0141 a0001c0002t0006g0236 a0001c0002t0006g0238 a0001c0002t0006g0275 a0001c0002t0014g0202 a0001c0002t0030g0133 a0001c0002t0030g0243 a0001c0002t0031g0212 a0001c0002t0031g0229 a0001c0002t0034g0003 a0001c0002t0040g0010 a0001c0002t0041g0017 a0001c0002t0100g0300 a0001c0002t0104g0307 a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0006g0168 a0001c0003t0036g0005 a0001c0003t0044g0011 a0001c0003t0111g0314 a0001c0004t0001g0104 a0001c0004t0014g0163 a0001c0010t0001g0285 a0001c0010t0001g0286 a0001c0011t0001g0054 a0001c0011t0001g0278 a0001c0011t0006g0268 a0001c0012t0001g0107 a0001c0012t0006g0105 a0001c0012t0014g0106 a0001c0015t0001g0102 a0001c0016t0073g0071 a0001c0021t0006g0103 a0001c0039t0006g0108 a0002c0001t0001g0059 a0002c0001t0001g0116 a0002c0001t0001g0138 a0002c0001t0001g0195 a0002c0001t0006g0142 a0002c0001t0039g0015 a0002c0001t0055g0033 a0002c0001t0056g0036 a0002c0001t0057g0034 a0003c0005t0014g0222 a0003c0006t0001g0246 a0003c0006t0006g0283 a0003c0006t0014g0216 a0003c0006t0045g0008 a0003c0006t0101g0301 a0004c0017t0001g0001 a0005c0022t0001g0094 a0007c0035t0069g0043 a0016c0029t0001g0206 a0018c0024t0079g0203	73	314	0.2325	17	c.17 others(28): Show c.1735_*1751dupTCTCTCCGCTTATTCCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	24/24	1751		chr19	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0094 a0001c0038t0094	a0001c0038t0094g0287 a0001c0038t0094g0287	1	88	0.0114	17	c.576 others(34): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHB_chr9_37910898_38074227	37958220	A A	AGGCAGTG others(10): Show AGGCAGTGCCCGCCAGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG01099.hp2 others(6): Show HG00438.hp2 HG00735.hp2 HG01099.hp2 HG04199.hp1 NA18945.hp1 NA18986.hp2 NA19056.hp1 NA19070.hp2 NA19079.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0010 a0001c0006t0031 a0001c0006t0032 others(2): Show a0001c0006t0010 a0001c0006t0031 a0001c0006t0032 a0001c0006t0067 a0001c0011t0005	a0001c0006t0010g0019 a0001c0006t0010g0020 a0001c0006t0010g0022 others(6): Show a0001c0006t0010g0019 a0001c0006t0010g0020 a0001c0006t0010g0022 a0001c0006t0010g0023 a0001c0006t0031g0021 a0001c0006t0032g0024 a0001c0006t0067g0194 a0001c0011t0005g0196 a0001c0011t0005g0197	9	328	0.0274	17	c.105 others(36): Show c.1055-2183_1055-2167dupCACTGGCGGGCACTGCC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	3/5			chr9	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02897.hp2 HG03486.hp1 others(1): Show HG02155.hp2 HG02897.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0001g0257 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0074	4	48	0.0833	17	c.656 others(34): Show c.656+5567_656+5583dupAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182898672	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	8	0.1250	17	c.13 others(28): Show c.1310_*1311insTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1192		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182898862	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02258.hp2 others(8): Show HG01884.hp2 HG02109.hp1 HG02258.hp2 HG02602.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0001c0001t0001 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(8): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0290 a0002c0002t0001g0040 a0003c0006t0001g0056 a0003c0006t0001g0059	11	213	0.0516	17	c.11 others(28): Show c.1120_*1121insTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1002		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182898862	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	203	0.0049	17	c.11 others(28): Show c.1120_*1121insTTTTTTTTTTTTTTTTG	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1002		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(10): Show GAAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0287 a0009c0013t0001g0287	1	125	0.0080	17	c.118 others(36): Show c.1182+4945_1182+4946insTCTTTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924974	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	283	0.0035	17	c.118 others(36): Show c.1182+4672_1182+4673insTCTTTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01978.hp1 NA18984.hp1 others(1): Show HG01943.hp1 HG01978.hp1 NA18984.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0090	4	18	0.2222	17	c.597 others(34): Show c.597-2172_597-2156dupAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHH_chr7_155794980_155817463	155795293	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0144 a0001c0001t0011g0144	1	53	0.0189	17	c.76 others(28): Show c.7606_*7607insAAAAAAAAAAAAAAAAA	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding		4686		chr7	TogoVar
SHISA4_chr1_201883898_201897587	201888657	G G	GCCGCAGT others(10): Show GCCGCAGTGCCCAACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02886.hp1 NA18522.hp1 HG02723.hp2 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	416	0.0072	17	c.-33 others(26): Show c.-338_-337insCCGCAGTGCCCAACTGC	SHISA4	ENSG00000198892.7	transcript	ENST00000362011.7	protein_coding		240		chr1	TogoVar
SHISA9_chr16_12896598_13245416	12968189	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0121 a0001c0001t0034g0121	1	17	0.0588	17	c.691 others(36): Show c.691+51395_691+51411dupAAAAAAAAAAAAAAAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0256 a0001c0002t0018g0256	1	105	0.0095	17	c.600 others(36): Show c.600-11393_600-11392insTATATATATATATATAT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44290537	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0050 a0001c0001t0003 a0001c0001t0010 a0001c0001t0050	a0001c0001t0003g0274 a0001c0001t0010g0250 a0001c0001t0050g0320 a0001c0001t0003g0274 a0001c0001t0010g0250 a0001c0001t0050g0320	3	373	0.0080	17	c.282 others(34): Show c.282-4793_282-4792insGTTTTTTTTTTTTTTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02615.hp1 HG02683.hp2 others(7): Show HG01175.hp2 HG02615.hp1 HG02683.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0002c0003t0001 a0002c0004t0002 a0002c0004t0005	a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0257 others(7): Show a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0257 a0001c0002t0002g0008 a0001c0002t0002g0278 a0001c0002t0005g0038 a0001c0002t0005g0119 a0002c0003t0001g0146 a0002c0004t0002g0183 a0002c0004t0005g0062	10	141	0.0709	17	c.178 others(34): Show c.178+2886_178+2902dupTTTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	130	0.0077	17	c.-12 others(36): Show c.-121+2035_-121+2051dupAAAAAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar

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