Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SH3KBP1_chrX_19528977_19892600	19643300	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02897.hp1 others(1): Show HG02559.hp1 HG02630.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 others(1): Show a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0012g0186	4	204	0.0196	5	c.802 others(22): Show c.802+2095_802+2099dupAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	7/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19668975	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	204	0.0049	5	c.726 others(24): Show c.726+14847_726+14848insTATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	6/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760023	C C	CTCTCT CTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	204	0.0049	5	c.163 others(24): Show c.163-13583_163-13582insAGAGA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760037	T T	TCTCTC TCTCTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	204	0.0049	5	c.163 others(24): Show c.163-13597_163-13596insGAGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760041	C C	CCCTCT CCCTCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	204	0.0049	5	c.163 others(24): Show c.163-13601_163-13600insAGAGG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760041	C C	CTCTCT CTCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	204	0.0049	5	c.163 others(24): Show c.163-13601_163-13600insAGAGA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19774654	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	204	0.0049	5	c.163 others(24): Show c.163-28214_163-28213insCTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19774654	A A	AAGAAG AAGAAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	204	0.0049	5	c.163 others(24): Show c.163-28214_163-28213insCTTCT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19774654	A A	AGAAAG AGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03942.hp1 NA18986.hp1 others(2): Show HG01099.hp1 HG03942.hp1 NA18986.hp1 NA19012.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0125 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132	5	204	0.0245	5	c.163 others(24): Show c.163-28214_163-28213insCTTTC	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19788269	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02622.hp1 HG02886.hp2 others(1): Show HG02293.hp2 HG02622.hp1 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0181 a0001c0001t0011g0045	4	204	0.0196	5	c.163 others(24): Show c.163-41833_163-41829dupTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19826685	A A	AATAAC AATAAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01256.hp1 others(37): Show HG00609.hp1 HG00673.hp1 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02615.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03471.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18957.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA19043.hp1 NA19056.hp1 NA19066.hp1 NA19070.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0067 others(37): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0002t0001g0179 a0001c0002t0002g0178 a0001c0002t0002g0202 a0001c0010t0001g0199 a0002c0004t0001g0143	40	204	0.1961	5	c.162 others(22): Show c.162+9435_162+9439dupGTTAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19856951	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01891.hp1 others(4): Show HG01070.hp2 HG01071.hp2 HG01891.hp1 HG02622.hp2 HG02647.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(4): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0003g0057 a0001c0001t0003g0058	7	204	0.0343	5	c.5-2 others(20): Show c.5-20674_5-20670dupAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19887601	G G	GAAAAA GAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03225.hp1 HG01109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0037 a0001c0001t0001g0059	2	204	0.0098	5	c.-29 others(14): Show c.-292_-291insTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2		chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103662341	C C	CGGGGG CGGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(15): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01978.hp2 HG02132.hp2 HG02258.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03492.hp2 HG03710.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0007c0022 a0009c0015	a0001c0001t0024 a0001c0001t0112 a0001c0002t0002 others(12): Show a0001c0001t0024 a0001c0001t0112 a0001c0002t0002 a0001c0002t0008 a0001c0002t0037 a0001c0002t0047 a0001c0002t0048 a0001c0002t0087 a0001c0002t0120 a0001c0002t0121 a0001c0003t0003 a0001c0009t0039 a0001c0009t0089 a0007c0022t0123 a0009c0015t0050	a0001c0001t0024g0181 a0001c0001t0112g0245 a0001c0002t0002g0009 others(15): Show a0001c0001t0024g0181 a0001c0001t0112g0245 a0001c0002t0002g0009 a0001c0002t0002g0070 a0001c0002t0008g0168 a0001c0002t0037g0008 a0001c0002t0047g0208 a0001c0002t0047g0237 a0001c0002t0048g0130 a0001c0002t0048g0143 a0001c0002t0087g0194 a0001c0002t0120g0163 a0001c0002t0121g0217 a0001c0003t0003g0212 a0001c0009t0039g0112 a0001c0009t0089g0219 a0007c0022t0123g0138 a0009c0015t0050g0124	18	250	0.0720	5	c.473 others(22): Show c.473-1232_473-1228dupCCCCC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	7/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103693284	G G	GCCCGC GCCCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG03098.hp2 others(1): Show HG01243.hp2 HG02895.hp2 HG03098.hp2 HG03471.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0108 a0004c0011t0110 a0004c0011t0111 others(1): Show a0004c0011t0108 a0004c0011t0110 a0004c0011t0111 a0004c0011t0114	a0004c0011t0108g0222 a0004c0011t0110g0169 a0004c0011t0111g0223 others(1): Show a0004c0011t0108g0222 a0004c0011t0110g0169 a0004c0011t0111g0223 a0004c0011t0114g0107	4	250	0.0160	5	c.399 others(20): Show c.399-233_399-229dupGCGGG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103728881	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01261.hp1 others(8): Show HG01109.hp1 HG01243.hp2 HG01261.hp1 HG01978.hp2 HG02145.hp2 HG02717.hp2 HG03516.hp2 NA18906.hp2 NA18966.hp2 NA19057.hp1 NA19064.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0002c0006 a0003c0020 a0004c0011 a0009c0015	a0001c0001t0005 a0001c0001t0006 a0001c0002t0127 others(7): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0127 a0001c0003t0080 a0001c0008t0125 a0001c0010t0038 a0002c0006t0059 a0003c0020t0001 a0004c0011t0114 a0009c0015t0050	a0001c0001t0005g0229 a0001c0001t0006g0171 a0001c0001t0006g0242 others(8): Show a0001c0001t0005g0229 a0001c0001t0006g0171 a0001c0001t0006g0242 a0001c0002t0127g0139 a0001c0003t0080g0086 a0001c0008t0125g0164 a0001c0010t0038g0092 a0002c0006t0059g0081 a0003c0020t0001g0123 a0004c0011t0114g0107 a0009c0015t0050g0124	11	250	0.0440	5	c.307 others(22): Show c.307-4521_307-4520insCAAAA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	4/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103767803	C C	CTGTTT CTGTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG06807.hp2 HG02647.hp2 HG02723.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0040 a0001c0001t0091 a0001c0001t0005 a0001c0001t0040 a0001c0001t0091	a0001c0001t0005g0149 a0001c0001t0040g0170 a0001c0001t0091g0232 a0001c0001t0005g0149 a0001c0001t0040g0170 a0001c0001t0091g0232	3	250	0.0120	5	c.154 others(20): Show c.154-639_154-635dupAAACA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103767810	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01261.hp1 others(13): Show HG00609.hp2 HG00738.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG02083.hp1 HG02630.hp1 HG02976.hp2 HG03041.hp2 HG03654.hp1 NA18522.hp1 NA18906.hp2 NA18946.hp2 NA18954.hp1 NA19077.hp2 NA19091.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0003c0007 a0011c0023	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0042 a0001c0001t0043 a0001c0001t0095 a0001c0002t0002 a0001c0002t0012 a0001c0002t0026 a0001c0002t0115 a0001c0002t0121 a0001c0002t0127 a0001c0004t0001 a0001c0009t0088 a0003c0007t0001 a0011c0023t0102	a0001c0001t0003g0140 a0001c0001t0004g0053 a0001c0001t0006g0171 others(13): Show a0001c0001t0003g0140 a0001c0001t0004g0053 a0001c0001t0006g0171 a0001c0001t0042g0097 a0001c0001t0043g0195 a0001c0001t0095g0121 a0001c0002t0002g0070 a0001c0002t0012g0054 a0001c0002t0026g0214 a0001c0002t0115g0134 a0001c0002t0121g0217 a0001c0002t0127g0139 a0001c0004t0001g0145 a0001c0009t0088g0091 a0003c0007t0001g0141 a0011c0023t0102g0216	16	250	0.0640	5	c.154 others(20): Show c.154-646_154-642dupAAAAA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103767812	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp1 others(3): Show HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0024 a0001c0001t0045 a0004c0011t0108 others(2): Show a0001c0001t0024 a0001c0001t0045 a0004c0011t0108 a0004c0011t0110 a0004c0011t0111	a0001c0001t0024g0227 a0001c0001t0045g0094 a0001c0001t0045g0098 others(3): Show a0001c0001t0024g0227 a0001c0001t0045g0094 a0001c0001t0045g0098 a0004c0011t0108g0222 a0004c0011t0110g0169 a0004c0011t0111g0223	6	250	0.0240	5	c.154 others(20): Show c.154-644_154-643insCAAAA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103842251	G G	GTTATT GTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(218): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0001c0024 a0001c0026 a0002c0006 a0003c0007 a0003c0020 a0004c0011 a0005c0012 a0006c0013 a0007c0022 a0008c0027 a0009c0015 a0010c0019 a0011c0023 a0012c0021 a0013c0025 a0014c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(132): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0081 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0019 a0001c0002t0025 a0001c0002t0026 a0001c0002t0036 a0001c0002t0037 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0073 a0001c0002t0074 a0001c0002t0076 a0001c0002t0077 a0001c0002t0087 a0001c0002t0115 a0001c0002t0118 a0001c0002t0119 a0001c0002t0120 a0001c0002t0121 a0001c0002t0124 a0001c0002t0127 a0001c0003t0003 a0001c0003t0011 a0001c0003t0015 a0001c0003t0032 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0054 a0001c0003t0055 a0001c0003t0058 a0001c0003t0060 a0001c0003t0061 a0001c0003t0062 a0001c0003t0065 a0001c0003t0072 a0001c0003t0080 a0001c0003t0094 a0001c0003t0098 a0001c0003t0100 a0001c0003t0101 a0001c0003t0105 a0001c0004t0001 a0001c0004t0010 a0001c0004t0013 a0001c0004t0020 a0001c0004t0028 a0001c0004t0052 a0001c0004t0053 a0001c0005t0007 a0001c0005t0016 a0001c0005t0046 a0001c0005t0069 a0001c0005t0070 a0001c0005t0071 a0001c0005t0078 a0001c0005t0116 a0001c0005t0117 a0001c0008t0027 a0001c0008t0051 a0001c0008t0079 a0001c0008t0125 a0001c0008t0126 a0001c0009t0039 a0001c0009t0088 a0001c0009t0090 a0001c0010t0028 a0001c0010t0038 a0001c0010t0129 a0001c0014t0006 a0001c0017t0084 a0001c0018t0002 a0001c0024t0021 a0001c0026t0075 a0002c0006t0003 a0002c0006t0004 a0002c0006t0018 a0002c0006t0031 a0002c0006t0056 a0002c0006t0057 a0002c0006t0059 a0002c0006t0096 a0003c0007t0001 a0003c0007t0010 a0003c0007t0083 a0003c0020t0001 a0004c0011t0110 a0004c0011t0114 a0005c0012t0007 a0006c0013t0014 a0007c0022t0123 a0008c0027t0003 a0009c0015t0050 a0010c0019t0008 a0011c0023t0102 a0012c0021t0122 a0013c0025t0034 a0014c0016t0086	a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(217): Show a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 a0001c0001t0003g0140 a0001c0001t0003g0188 a0001c0001t0004g0021 a0001c0001t0004g0053 a0001c0001t0004g0057 a0001c0001t0004g0083 a0001c0001t0005g0149 a0001c0001t0005g0187 a0001c0001t0006g0089 a0001c0001t0006g0171 a0001c0001t0014g0101 a0001c0001t0014g0156 a0001c0001t0017g0004 a0001c0001t0017g0011 a0001c0001t0017g0031 a0001c0001t0021g0150 a0001c0001t0021g0206 a0001c0001t0022g0100 a0001c0001t0022g0110 a0001c0001t0022g0142 a0001c0001t0023g0099 a0001c0001t0023g0152 a0001c0001t0024g0172 a0001c0001t0024g0181 a0001c0001t0029g0072 a0001c0001t0029g0075 a0001c0001t0030g0024 a0001c0001t0030g0082 a0001c0001t0031g0079 a0001c0001t0040g0170 a0001c0001t0041g0202 a0001c0001t0042g0097 a0001c0001t0042g0165 a0001c0001t0043g0195 a0001c0001t0043g0197 a0001c0001t0045g0094 a0001c0001t0045g0098 a0001c0001t0063g0017 a0001c0001t0064g0048 a0001c0001t0066g0003 a0001c0001t0067g0076 a0001c0001t0068g0069 a0001c0001t0081g0135 a0001c0001t0092g0096 a0001c0001t0093g0106 a0001c0001t0095g0121 a0001c0001t0097g0167 a0001c0001t0099g0205 a0001c0001t0103g0117 a0001c0001t0104g0207 a0001c0001t0106g0173 a0001c0001t0107g0160 a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0018 a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0008g0129 a0001c0002t0008g0168 a0001c0002t0008g0180 a0001c0002t0009g0088 a0001c0002t0009g0146 a0001c0002t0009g0176 a0001c0002t0009g0192 a0001c0002t0012g0023 a0001c0002t0012g0051 a0001c0002t0012g0054 a0001c0002t0012g0064 a0001c0002t0019g0020 a0001c0002t0019g0058 a0001c0002t0019g0063 a0001c0002t0025g0001 a0001c0002t0026g0157 a0001c0002t0026g0201 a0001c0002t0026g0214 a0001c0002t0036g0019 a0001c0002t0036g0027 a0001c0002t0037g0008 a0001c0002t0037g0041 a0001c0002t0047g0208 a0001c0002t0048g0130 a0001c0002t0048g0143 a0001c0002t0049g0120 a0001c0002t0049g0190 a0001c0002t0050g0158 a0001c0002t0073g0015 a0001c0002t0074g0084 a0001c0002t0076g0068 a0001c0002t0077g0043 a0001c0002t0087g0194 a0001c0002t0115g0134 a0001c0002t0118g0114 a0001c0002t0119g0122 a0001c0002t0120g0163 a0001c0002t0121g0217 a0001c0002t0124g0109 a0001c0002t0127g0139 a0001c0003t0003g0212 a0001c0003t0011g0014 a0001c0003t0011g0028 a0001c0003t0011g0035 a0001c0003t0011g0039 a0001c0003t0015g0136 a0001c0003t0015g0137 a0001c0003t0015g0183 a0001c0003t0032g0002 a0001c0003t0032g0045 a0001c0003t0033g0067 a0001c0003t0033g0085 a0001c0003t0034g0052 a0001c0003t0035g0059 a0001c0003t0035g0060 a0001c0003t0054g0065 a0001c0003t0055g0071 a0001c0003t0058g0066 a0001c0003t0060g0033 a0001c0003t0061g0061 a0001c0003t0062g0012 a0001c0003t0065g0025 a0001c0003t0072g0006 a0001c0003t0080g0086 a0001c0003t0094g0182 a0001c0003t0098g0179 a0001c0003t0100g0186 a0001c0003t0101g0184 a0001c0003t0105g0211 a0001c0004t0001g0087 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0148 a0001c0004t0001g0177 a0001c0004t0010g0022 a0001c0004t0010g0036 a0001c0004t0010g0077 a0001c0004t0013g0196 a0001c0004t0013g0198 a0001c0004t0013g0200 a0001c0004t0013g0203 a0001c0004t0020g0104 a0001c0004t0020g0118 a0001c0004t0020g0185 a0001c0004t0028g0056 a0001c0004t0052g0037 a0001c0004t0053g0062 a0001c0005t0007g0178 a0001c0005t0007g0189 a0001c0005t0007g0213 a0001c0005t0016g0161 a0001c0005t0016g0209 a0001c0005t0016g0210 a0001c0005t0046g0166 a0001c0005t0069g0042 a0001c0005t0070g0016 a0001c0005t0071g0049 a0001c0005t0078g0055 a0001c0005t0116g0103 a0001c0005t0117g0116 a0001c0008t0027g0162 a0001c0008t0027g0175 a0001c0008t0027g0215 a0001c0008t0051g0246 a0001c0008t0051g0247 a0001c0008t0079g0046 a0001c0008t0125g0164 a0001c0008t0126g0090 a0001c0009t0039g0112 a0001c0009t0039g0113 a0001c0009t0088g0091 a0001c0009t0090g0095 a0001c0010t0028g0032 a0001c0010t0038g0092 a0001c0010t0038g0093 a0001c0010t0129g0249 a0001c0014t0006g0111 a0001c0014t0006g0174 a0001c0017t0084g0131 a0001c0018t0002g0013 a0001c0024t0021g0128 a0001c0026t0075g0050 a0002c0006t0003g0125 a0002c0006t0003g0127 a0002c0006t0004g0044 a0002c0006t0004g0074 a0002c0006t0018g0007 a0002c0006t0018g0078 a0002c0006t0018g0080 a0002c0006t0031g0010 a0002c0006t0056g0047 a0002c0006t0057g0029 a0002c0006t0059g0081 a0002c0006t0096g0199 a0003c0007t0001g0141 a0003c0007t0001g0147 a0003c0007t0001g0151 a0003c0007t0001g0159 a0003c0007t0001g0193 a0003c0007t0001g0204 a0003c0007t0010g0040 a0003c0007t0083g0126 a0003c0020t0001g0123 a0004c0011t0110g0169 a0004c0011t0114g0107 a0005c0012t0007g0132 a0005c0012t0007g0133 a0006c0013t0014g0108 a0006c0013t0014g0115 a0007c0022t0123g0138 a0008c0027t0003g0154 a0009c0015t0050g0124 a0010c0019t0008g0155 a0011c0023t0102g0216 a0012c0021t0122g0191 a0013c0025t0034g0034 a0014c0016t0086g0153	221	250	0.8840	5	c.72+ others(22): Show c.72+12939_72+12943dupAATAA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329079	A A	ATTTTT ATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG01106.hp2 others(7): Show HG00597.hp2 HG01106.hp1 HG01106.hp2 HG01346.hp1 HG03491.hp2 HG04204.hp1 NA18999.hp2 NA19002.hp1 NA19012.hp1 NA19067.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0020 a0001c0001 a0001c0002 a0011c0020	a0001c0001t0001 a0001c0001t0007 a0001c0001t0087 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0087 a0001c0002t0001 a0001c0002t0007 a0011c0020t0042	a0001c0001t0001g0054 a0001c0001t0001g0159 a0001c0001t0007g0121 others(7): Show a0001c0001t0001g0054 a0001c0001t0001g0159 a0001c0001t0007g0121 a0001c0001t0087g0234 a0001c0002t0001g0116 a0001c0002t0001g0150 a0001c0002t0007g0105 a0001c0002t0007g0106 a0001c0002t0007g0112 a0011c0020t0042g0102	10	280	0.0357	5	c.92 others(16): Show c.9289_*9290insAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		4419		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329081	A A	ATTTTT ATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp1 others(52): Show HG00408.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG01071.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01891.hp2 HG02015.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02273.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18984.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19057.hp1 NA19065.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0019 a0005c0016 a0009c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0041 a0001c0001t0071 a0001c0001t0078 a0001c0001t0095 a0001c0002t0001 a0001c0002t0007 a0001c0002t0044 a0001c0003t0077 a0001c0005t0016 a0001c0019t0061 a0005c0016t0040 a0009c0017t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(52): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0004g0223 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0237 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0008g0122 a0001c0001t0008g0129 a0001c0001t0008g0131 a0001c0001t0008g0169 a0001c0001t0041g0120 a0001c0001t0071g0011 a0001c0001t0078g0215 a0001c0001t0095g0274 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0081 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0097 a0001c0002t0001g0117 a0001c0002t0001g0135 a0001c0002t0001g0164 a0001c0002t0001g0171 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0007g0075 a0001c0002t0007g0092 a0001c0002t0007g0095 a0001c0002t0007g0101 a0001c0002t0007g0108 a0001c0002t0007g0113 a0001c0002t0007g0146 a0001c0002t0044g0187 a0001c0003t0077g0213 a0001c0005t0016g0267 a0001c0019t0061g0160 a0005c0016t0040g0149 a0009c0017t0001g0181	55	280	0.1964	5	c.92 others(16): Show c.9287_*9288insAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		4417		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329083	A A	ATTTTT ATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG03139.hp1 HG03654.hp2 others(6): Show HG02698.hp2 HG03139.hp1 HG03654.hp2 HG03927.hp1 HG03942.hp2 NA18747.hp2 NA18941.hp1 NA18971.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0088 a0001c0002t0001 a0001c0002t0020	a0001c0001t0001g0132 a0001c0001t0004g0219 a0001c0001t0008g0130 others(6): Show a0001c0001t0001g0132 a0001c0001t0004g0219 a0001c0001t0008g0130 a0001c0001t0088g0272 a0001c0002t0001g0031 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0168 a0001c0002t0020g0085	9	280	0.0321	5	c.92 others(16): Show c.9281_*9285dupAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		4415		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172332256	C C	CTTTTT CTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02735.hp1 HG03579.hp2 others(7): Show HG02451.hp1 HG02735.hp1 HG03579.hp2 NA18939.hp1 NA18966.hp2 NA19004.hp2 NA19007.hp1 NA19065.hp2 NA19090.hp1 NA21309.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0008c0011 a0010c0018	a0001c0001t0036 a0001c0003t0015 a0001c0003t0017 others(4): Show a0001c0001t0036 a0001c0003t0015 a0001c0003t0017 a0001c0003t0049 a0001c0005t0055 a0008c0011t0034 a0010c0018t0050	a0001c0001t0036g0013 a0001c0003t0015g0143 a0001c0003t0015g0188 others(7): Show a0001c0001t0036g0013 a0001c0003t0015g0143 a0001c0003t0015g0188 a0001c0003t0017g0225 a0001c0003t0017g0228 a0001c0003t0017g0256 a0001c0003t0049g0042 a0001c0005t0055g0012 a0008c0011t0034g0010 a0010c0018t0050g0137	10	280	0.0357	5	c.61 others(16): Show c.6108_*6112dupAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		1242		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172344588	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02717.hp1 others(5): Show HG02280.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0005 a0001c0008 a0001c0012 others(3): Show a0001c0005 a0001c0008 a0001c0012 a0001c0021 a0002c0010 a0007c0013	a0001c0005t0016 a0001c0005t0081 a0001c0008t0005 others(4): Show a0001c0005t0016 a0001c0005t0081 a0001c0008t0005 a0001c0012t0023 a0001c0021t0016 a0002c0010t0005 a0007c0013t0037	a0001c0005t0016g0268 a0001c0005t0081g0216 a0001c0008t0005g0195 others(5): Show a0001c0005t0016g0268 a0001c0005t0081g0216 a0001c0008t0005g0195 a0001c0012t0023g0046 a0001c0012t0023g0047 a0001c0021t0016g0264 a0002c0010t0005g0059 a0007c0013t0037g0021	8	280	0.0286	5	c.118 others(24): Show c.1188+1543_1188+1547dupTTTTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	12/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172366617	A A	ATTTAT ATTTAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG01433.hp2 others(1): Show HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0001 a0001c0002t0007 a0006c0009t0003 a0001c0002t0001 a0001c0002t0007 a0006c0009t0003	a0001c0002t0001g0067 a0001c0002t0007g0146 a0006c0009t0003g0252 others(1): Show a0001c0002t0001g0067 a0001c0002t0007g0146 a0006c0009t0003g0252 a0006c0009t0003g0257	4	280	0.0143	5	c.428 others(22): Show c.428-3753_428-3749dupATAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172366932	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02273.hp1 HG02698.hp1 others(8): Show HG00609.hp2 HG02273.hp1 HG02698.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG04184.hp2 NA18747.hp1 NA18984.hp2 NA20905.hp1 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0041 a0001c0001t0058 a0001c0001t0062 a0009c0017t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0165 others(8): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0008g0122 a0001c0001t0008g0130 a0001c0001t0020g0128 a0001c0001t0041g0120 a0001c0001t0058g0180 a0001c0001t0062g0166 a0009c0017t0001g0181	11	280	0.0393	5	c.428 others(22): Show c.428-4068_428-4064dupAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172369213	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01943.hp2 others(22): Show HG00323.hp1 HG00639.hp2 HG01943.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0010 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024 a0001c0001t0036 a0001c0001t0048 a0001c0001t0071 a0001c0001t0076 a0001c0001t0089 a0001c0002t0047 a0001c0002t0074 a0001c0003t0065 a0001c0003t0077 a0002c0004t0010 a0002c0004t0067 a0002c0010t0005 a0004c0006t0013	a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0002g0134 others(22): Show a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0006g0025 a0001c0001t0010g0022 a0001c0001t0014g0136 a0001c0001t0024g0037 a0001c0001t0024g0038 a0001c0001t0036g0013 a0001c0001t0048g0026 a0001c0001t0071g0011 a0001c0001t0076g0217 a0001c0001t0089g0265 a0001c0002t0047g0041 a0001c0002t0074g0209 a0001c0003t0065g0048 a0001c0003t0077g0213 a0002c0004t0010g0056 a0002c0004t0010g0057 a0002c0004t0010g0058 a0002c0004t0067g0035 a0002c0010t0005g0059 a0004c0006t0013g0018 a0004c0006t0013g0029 a0004c0006t0013g0030	25	280	0.0893	5	c.427 others(22): Show c.427+4572_427+4576dupCAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172423544	T T	TTGGGG TTGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20752.hp1 HG02723.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0080 a0001c0019t0061 a0001c0001t0080 a0001c0019t0061	a0001c0001t0080g0218 a0001c0019t0061g0160 a0001c0001t0080g0218 a0001c0019t0061g0160	2	280	0.0071	5	c.76- others(20): Show c.76-1053_76-1049dupCCCCA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF2_chr5_145931578_146068292	145961174	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02896.hp2 others(3): Show HG02109.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03225.hp1	a0002 a0006 a0013 a0002 a0006 a0013	a0002c0002 a0006c0007 a0013c0018 a0002c0002 a0006c0007 a0013c0018	a0002c0002t0001 a0006c0007t0001 a0013c0018t0001 a0002c0002t0001 a0006c0007t0001 a0013c0018t0001	a0002c0002t0001g0102 a0006c0007t0001g0093 a0006c0007t0001g0094 others(3): Show a0002c0002t0001g0102 a0006c0007t0001g0093 a0006c0007t0001g0094 a0006c0007t0001g0096 a0006c0007t0001g0097 a0013c0018t0001g0095	6	272	0.0221	5	c.378 others(24): Show c.378+22888_378+22892dupTTTTT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109143753	G G	GAAACA GAAACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(17): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00735.hp2 HG00741.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG02080.hp2 HG02630.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp2 NA18975.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 others(2): Show a0001c0001 a0002c0002 a0002c0011 a0002c0012 a0002c0013	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0013 a0002c0002t0031 a0002c0002t0034 a0002c0011t0001 a0002c0012t0004 a0002c0013t0033	a0001c0001t0001g0025 a0001c0001t0001g0155 a0002c0002t0001g0156 others(17): Show a0001c0001t0001g0025 a0001c0001t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0004g0160 a0002c0002t0004g0163 a0002c0002t0005g0171 a0002c0002t0006g0154 a0002c0002t0013g0166 a0002c0002t0031g0159 a0002c0002t0034g0157 a0002c0011t0001g0164 a0002c0012t0004g0172 a0002c0013t0033g0168	20	172	0.1163	5	c.573 others(24): Show c.573+13653_573+13657dupACAAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109170244	T T	TTTCTC TTTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01258.hp2 others(1): Show HG00099.hp2 HG01099.hp1 HG01258.hp2 HG02080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0002 a0001c0001 a0001c0017 a0002c0002	a0001c0001t0001 a0001c0017t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0017t0006 a0002c0002t0001 a0002c0002t0031	a0001c0001t0001g0037 a0001c0017t0006g0021 a0002c0002t0001g0158 others(1): Show a0001c0001t0001g0037 a0001c0017t0006g0021 a0002c0002t0001g0158 a0002c0002t0031g0159	4	172	0.0233	5	c.573 others(24): Show c.573+40198_573+40202dupTCTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109197336	A A	AGAAGG AGAAGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03942.hp2 HG04115.hp2 others(1): Show HG02074.hp2 HG03942.hp2 HG04115.hp2 NA18945.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0019 a0003c0006 others(1): Show a0001c0001 a0001c0019 a0003c0006 a0003c0020	a0001c0001t0005 a0001c0019t0004 a0003c0006t0030 others(1): Show a0001c0001t0005 a0001c0019t0004 a0003c0006t0030 a0003c0020t0006	a0001c0001t0005g0063 a0001c0019t0004g0059 a0003c0006t0030g0061 others(1): Show a0001c0001t0005g0063 a0001c0019t0004g0059 a0003c0006t0030g0061 a0003c0020t0006g0062	4	172	0.0233	5	c.573 others(24): Show c.573+67235_573+67239dupAAGGG	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	149021884	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG02622.hp2 others(5): Show HG01261.hp1 HG01433.hp1 HG02622.hp2 HG04199.hp2 NA18977.hp1 NA18989.hp2 NA18990.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0042 a0001c0001t0046 others(5): Show a0001c0001t0018 a0001c0001t0042 a0001c0001t0046 a0001c0001t0050 a0001c0001t0149 a0001c0001t0151 a0001c0001t0163 a0001c0001t0168	a0001c0001t0018g0112 a0001c0001t0042g0145 a0001c0001t0046g0239 others(5): Show a0001c0001t0018g0112 a0001c0001t0042g0145 a0001c0001t0046g0239 a0001c0001t0050g0149 a0001c0001t0149g0028 a0001c0001t0151g0147 a0001c0001t0163g0037 a0001c0001t0168g0148	8	326	0.0245	5	c.305 others(24): Show c.3053+4683_3053+4687dupAAAAA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SH3TC2_chr5_148977150_149068062	149057633	T T	TTAGCA TTAGCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02886.hp2 others(2): Show HG02258.hp2 HG02572.hp2 HG02886.hp2 HG03041.hp2 HG03579.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0001c0022 a0001c0033 others(1): Show a0001c0002 a0001c0022 a0001c0033 a0013c0034	a0001c0002t0210 a0001c0022t0177 a0001c0022t0178 others(2): Show a0001c0002t0210 a0001c0022t0177 a0001c0022t0178 a0001c0033t0176 a0013c0034t0137	a0001c0002t0210g0215 a0001c0022t0177g0218 a0001c0022t0178g0219 others(2): Show a0001c0002t0210g0215 a0001c0022t0177g0218 a0001c0022t0178g0219 a0001c0033t0176g0216 a0013c0034t0137g0217	5	326	0.0153	5	c.52+ others(20): Show c.52+5333_52+5337dupTGCTA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	1/16			chr5	TogoVar
SHANK1_chr19_50654255_50724802	50663912	T T	TTTTTC TTTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp1 others(6): Show HG01109.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03471.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0004c0064 a0001c0003 a0001c0004 a0004c0064	a0001c0003t0010 a0001c0003t0023 a0001c0003t0025 others(5): Show a0001c0003t0010 a0001c0003t0023 a0001c0003t0025 a0001c0003t0064 a0001c0003t0066 a0001c0003t0075 a0001c0004t0080 a0004c0064t0077	a0001c0003t0010g0172 a0001c0003t0010g0284 a0001c0003t0023g0078 others(6): Show a0001c0003t0010g0172 a0001c0003t0010g0284 a0001c0003t0023g0078 a0001c0003t0025g0008 a0001c0003t0064g0044 a0001c0003t0066g0043 a0001c0003t0075g0289 a0001c0004t0080g0082 a0004c0064t0077g0123	9	316	0.0285	5	c.576 others(24): Show c.5769-1235_5769-1231dupGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50663940	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01192.hp2 HG01257.hp1 others(8): Show HG00621.hp2 HG01192.hp2 HG01257.hp1 HG01496.hp2 HG02135.hp2 HG02572.hp1 HG02965.hp2 HG03139.hp1 NA18969.hp2 NA18974.hp1 NA19067.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0014 a0023 a0026 a0036	a0001c0002 a0001c0003 a0002c0009 others(5): Show a0001c0002 a0001c0003 a0002c0009 a0003c0005 a0014c0054 a0023c0057 a0026c0037 a0036c0059	a0001c0002t0001 a0001c0002t0006 a0001c0002t0052 others(7): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0052 a0001c0003t0010 a0002c0009t0067 a0003c0005t0020 a0014c0054t0026 a0023c0057t0022 a0026c0037t0012 a0036c0059t0032	a0001c0002t0001g0250 a0001c0002t0006g0236 a0001c0002t0052g0025 others(8): Show a0001c0002t0001g0250 a0001c0002t0006g0236 a0001c0002t0052g0025 a0001c0003t0010g0076 a0002c0009t0067g0046 a0003c0005t0020g0149 a0003c0005t0020g0214 a0014c0054t0026g0018 a0023c0057t0022g0075 a0026c0037t0012g0051 a0036c0059t0032g0163	11	316	0.0348	5	c.576 others(24): Show c.5769-1263_5769-1259dupAAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0013 a0017 a0024 a0029 a0030	a0001c0002 a0001c0003 a0001c0004 others(19): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0021 a0001c0022 a0002c0001 a0003c0006 a0004c0068 a0005c0018 a0006c0016 a0010c0036 a0011c0026 a0013c0040 a0017c0061 a0024c0050 a0029c0045 a0030c0025	a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 others(54): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0030 a0001c0002t0031 a0001c0002t0040 a0001c0002t0083 a0001c0002t0084 a0001c0002t0104 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0017 a0001c0003t0023 a0001c0003t0025 a0001c0003t0044 a0001c0003t0064 a0001c0003t0073 a0001c0003t0074 a0001c0003t0082 a0001c0003t0099 a0001c0003t0112 a0001c0004t0008 a0001c0007t0012 a0001c0010t0001 a0001c0010t0006 a0001c0011t0004 a0001c0011t0007 a0001c0011t0022 a0001c0012t0024 a0001c0014t0001 a0001c0021t0008 a0001c0022t0006 a0002c0001t0001 a0002c0001t0004 a0002c0001t0006 a0002c0001t0007 a0002c0001t0047 a0003c0006t0001 a0003c0006t0006 a0003c0006t0012 a0003c0006t0014 a0003c0006t0045 a0003c0006t0101 a0004c0068t0001 a0005c0018t0001 a0006c0016t0056 a0010c0036t0008 a0011c0026t0001 a0013c0040t0011 a0017c0061t0068 a0024c0050t0007 a0029c0045t0001 a0030c0025t0100	a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0096 others(74): Show a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0119 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0189 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0209 a0001c0002t0006g0109 a0001c0002t0006g0140 a0001c0002t0006g0236 a0001c0002t0006g0238 a0001c0002t0006g0277 a0001c0002t0007g0269 a0001c0002t0009g0131 a0001c0002t0011g0081 a0001c0002t0030g0132 a0001c0002t0031g0210 a0001c0002t0031g0227 a0001c0002t0040g0009 a0001c0002t0083g0229 a0001c0002t0084g0130 a0001c0002t0104g0307 a0001c0003t0001g0061 a0001c0003t0007g0065 a0001c0003t0010g0076 a0001c0003t0010g0172 a0001c0003t0010g0284 a0001c0003t0012g0068 a0001c0003t0017g0086 a0001c0003t0023g0078 a0001c0003t0025g0008 a0001c0003t0044g0010 a0001c0003t0064g0044 a0001c0003t0073g0071 a0001c0003t0074g0124 a0001c0003t0082g0083 a0001c0003t0099g0308 a0001c0003t0112g0315 a0001c0004t0008g0049 a0001c0007t0012g0077 a0001c0010t0001g0052 a0001c0010t0001g0280 a0001c0010t0006g0267 a0001c0011t0004g0249 a0001c0011t0007g0251 a0001c0011t0022g0084 a0001c0012t0024g0122 a0001c0012t0024g0136 a0001c0014t0001g0101 a0001c0021t0008g0260 a0001c0022t0006g0102 a0002c0001t0001g0057 a0002c0001t0001g0137 a0002c0001t0004g0135 a0002c0001t0006g0141 a0002c0001t0007g0221 a0002c0001t0047g0024 a0003c0006t0001g0248 a0003c0006t0006g0283 a0003c0006t0012g0088 a0003c0006t0014g0212 a0003c0006t0045g0007 a0003c0006t0101g0301 a0004c0068t0001g0106 a0005c0018t0001g0001 a0006c0016t0056g0032 a0010c0036t0008g0055 a0011c0026t0001g0092 a0013c0040t0011g0228 a0017c0061t0068g0041 a0024c0050t0007g0270 a0029c0045t0001g0204 a0030c0025t0100g0300	78	316	0.2468	5	c.576 others(22): Show c.5768+450_5768+454dupTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50672555	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp2 HG02647.hp2 others(11): Show HG01192.hp2 HG02559.hp2 HG02647.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp1 NA19067.hp2	a0001 a0003 a0010 others(4): Show a0001 a0003 a0010 a0014 a0026 a0027 a0028	a0001c0003 a0001c0004 a0001c0007 others(6): Show a0001c0003 a0001c0004 a0001c0007 a0003c0005 a0010c0035 a0014c0054 a0026c0037 a0027c0046 a0028c0038	a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 others(11): Show a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0081 a0001c0003t0090 a0001c0004t0016 a0001c0004t0096 a0001c0007t0007 a0003c0005t0020 a0010c0035t0011 a0014c0054t0026 a0026c0037t0012 a0027c0046t0071 a0028c0038t0004	a0001c0003t0004g0079 a0001c0003t0007g0087 a0001c0003t0008g0231 others(11): Show a0001c0003t0004g0079 a0001c0003t0007g0087 a0001c0003t0008g0231 a0001c0003t0081g0179 a0001c0003t0090g0067 a0001c0004t0016g0080 a0001c0004t0096g0297 a0001c0007t0007g0216 a0003c0005t0020g0149 a0010c0035t0011g0050 a0014c0054t0026g0018 a0026c0037t0012g0051 a0027c0046t0071g0072 a0028c0038t0004g0282	14	316	0.0443	5	c.257 others(22): Show c.2578-446_2578-442dupTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	T T	TTTTTC TTTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01255.hp2 others(1): Show HG00673.hp1 HG00741.hp2 HG01255.hp2 NA18997.hp2	a0001 a0002 a0039 a0001 a0002 a0039	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0039c0049	a0001c0002t0003 a0001c0003t0036 a0002c0001t0019 others(1): Show a0001c0002t0003 a0001c0003t0036 a0002c0001t0019 a0039c0049t0033	a0001c0002t0003g0060 a0001c0003t0036g0004 a0002c0001t0019g0165 others(1): Show a0001c0002t0003g0060 a0001c0003t0036g0004 a0002c0001t0019g0165 a0039c0049t0033g0306	4	316	0.0127	5	c.107 others(24): Show c.1078-3367_1078-3363dupGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHBG_chr17_7625135_7638372	7629375	C C	CTAAAA CTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02965.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18992.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0004t0001g0002 a0001c0007t0001g0001 a0002c0002t0001g0001 a0003c0003t0001g0006	117	432	0.2708	5	c.-79 others(14): Show c.-798_-797insTAAAA	SHBG	ENSG00000129214.15	transcript	ENST00000380450.9	protein_coding		759		chr17	TogoVar
SHB_chr9_37910898_38074227	37920275	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01074.hp2 others(19): Show HG00140.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01256.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG02148.hp1 HG02622.hp2 HG02895.hp1 HG03471.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04228.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0003c0019	a0001c0001t0001 a0001c0001t0044 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0044 a0001c0002t0003 a0001c0003t0001 a0001c0003t0019 a0001c0004t0004 a0001c0004t0011 a0001c0007t0001 a0001c0011t0004 a0003c0019t0001	a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0232 others(19): Show a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0044g0237 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0003t0001g0123 a0001c0003t0019g0016 a0001c0004t0004g0106 a0001c0004t0004g0107 a0001c0004t0004g0111 a0001c0004t0004g0113 a0001c0004t0004g0136 a0001c0004t0004g0139 a0001c0004t0011g0006 a0001c0004t0011g0007 a0001c0004t0011g0008 a0001c0004t0011g0009 a0001c0007t0001g0317 a0001c0011t0004g0199 a0003c0019t0001g0319	22	330	0.0667	5	c.134 others(22): Show c.1347-276_1347-272dupGTTTT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHB_chr9_37910898_38074227	37982973	G G	GCCCCC GCCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01106.hp2 others(19): Show HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01516.hp2 HG01978.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG03486.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18951.hp2 NA18972.hp2 NA19030.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0002 a0001c0001t0065 a0001c0003t0002 others(6): Show a0001c0001t0002 a0001c0001t0065 a0001c0003t0002 a0001c0003t0019 a0001c0003t0035 a0001c0004t0004 a0001c0004t0011 a0001c0004t0056 a0001c0013t0010	a0001c0001t0002g0259 a0001c0001t0002g0312 a0001c0001t0002g0314 others(19): Show a0001c0001t0002g0259 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0065g0297 a0001c0003t0002g0138 a0001c0003t0002g0141 a0001c0003t0019g0016 a0001c0003t0035g0014 a0001c0004t0004g0059 a0001c0004t0004g0082 a0001c0004t0004g0106 a0001c0004t0004g0107 a0001c0004t0004g0109 a0001c0004t0004g0113 a0001c0004t0004g0129 a0001c0004t0004g0175 a0001c0004t0011g0006 a0001c0004t0011g0007 a0001c0004t0011g0009 a0001c0004t0056g0137 a0001c0013t0010g0187	22	330	0.0667	5	c.839 others(22): Show c.839-8141_839-8137dupGGGGG	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	2/5			chr9	TogoVar
SHC3_chr9_89000771_89183818	89049261	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp1 HG01517.hp1 others(10): Show HG00323.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 a0001c0001t0036 a0001c0002t0002 a0001c0002t0005 a0001c0007t0015	a0001c0001t0001g0062 a0001c0001t0002g0136 a0001c0001t0005g0026 others(10): Show a0001c0001t0001g0062 a0001c0001t0002g0136 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0007g0030 a0001c0001t0025g0028 a0001c0001t0033g0037 a0001c0001t0036g0133 a0001c0002t0002g0128 a0001c0002t0005g0117 a0001c0002t0005g0147 a0001c0007t0015g0176	13	188	0.0692	5	c.963 others(22): Show c.963-2272_963-2268dupGTTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	7/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89049291	C C	CAAAAT CAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(7): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00738.hp2 HG01433.hp1 HG01496.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0006t0004 a0001c0006t0024	a0001c0001t0001g0005 a0001c0001t0001g0162 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0016g0160 a0001c0006t0004g0169 a0001c0006t0024g0168	10	188	0.0532	5	c.963 others(22): Show c.963-2298_963-2297insATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	7/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAAT AAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00735.hp2 others(22): Show HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01358.hp1 HG01517.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG03017.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0039 a0001c0002t0040	a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0114 others(22): Show a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0002g0146 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0009g0096 a0001c0001t0020g0152 a0001c0001t0041g0174 a0001c0001t0042g0079 a0001c0002t0001g0141 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0094 a0001c0002t0002g0128 a0001c0002t0004g0135 a0001c0002t0005g0147 a0001c0002t0006g0127 a0001c0002t0039g0078 a0001c0002t0040g0142	25	188	0.1330	5	c.-40 others(16): Show c.-4063_-4062insATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHCBP1L_chr1_182894865_182958166	182898672	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(25): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp2 HG02132.hp2 HG02135.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG04184.hp2 NA18944.hp1 NA18947.hp1 NA18955.hp1 NA18956.hp1 NA18965.hp1 NA18977.hp2 NA18980.hp1 NA18985.hp2 NA18990.hp1 NA18999.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 others(25): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0266	28	302	0.0927	5	c.13 others(16): Show c.1310_*1311insTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding		1192		chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924675	A A	AGAAAG AGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp2 others(11): Show HG00099.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01123.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG02280.hp1 HG02717.hp2 HG03225.hp2 HG06807.hp1 NA18522.hp2 NA19000.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0005c0005t0001 a0006c0007t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0264 others(11): Show a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0002c0002t0001g0035 a0005c0005t0001g0044 a0005c0005t0001g0045 a0005c0005t0001g0046 a0005c0005t0001g0047 a0005c0005t0001g0048 a0006c0007t0001g0295	14	302	0.0464	5	c.118 others(24): Show c.1182+4967_1182+4971dupCTTTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924974	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03130.hp1 others(2): Show HG02109.hp2 HG02970.hp2 HG03130.hp1 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0001 a0003c0006t0001 a0001c0003t0001 a0003c0006t0001	a0001c0003t0001g0281 a0001c0003t0001g0283 a0003c0006t0001g0057 others(2): Show a0001c0003t0001g0281 a0001c0003t0001g0283 a0003c0006t0001g0057 a0003c0006t0001g0059 a0003c0006t0001g0060	5	302	0.0166	5	c.118 others(24): Show c.1182+4672_1182+4673insTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182931943	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01192.hp2 HG01891.hp2 others(20): Show HG00597.hp2 HG01192.hp2 HG01891.hp2 HG02015.hp1 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02895.hp1 HG03130.hp1 HG03540.hp1 HG03579.hp1 NA18612.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18988.hp1 NA18992.hp2 NA19030.hp2 NA19058.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0016	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0007c0016t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(20): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0003t0001g0065 a0001c0003t0001g0281 a0001c0003t0001g0283 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0041 a0007c0016t0001g0302	23	302	0.0762	5	c.107 others(24): Show c.1077-2196_1077-2192dupAAAAA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar

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