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
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02280.hp2 HG02976.hp2 others(1): Show HG00609.hp2 HG02280.hp2 HG02976.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0007t0003	a0001c0001t0001g0308 a0001c0001t0002g0201 a0001c0004t0003g0314 others(1): Show a0001c0001t0001g0308 a0001c0001t0002g0201 a0001c0004t0003g0314 a0001c0007t0003g0353	4	28	0.1429	30	c.579 others(47): Show c.579-6254_579-6253insTTATATATATATATATATATATATATAT AT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14551795	T T	TTTTCTAA others(23): Show TTTTCTAAAAATAAAAATGAAAATTTTTTAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01993.hp2 HG02622.hp1 others(5): Show HG01192.hp1 HG01993.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 others(5): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0001t0037 a0001c0001t0054 a0001c0001t0075 a0001c0001t0091	a0001c0001t0005g0072 a0001c0001t0013g0026 a0001c0001t0015g0005 others(5): Show a0001c0001t0005g0072 a0001c0001t0013g0026 a0001c0001t0015g0005 a0001c0001t0027g0010 a0001c0001t0037g0032 a0001c0001t0054g0058 a0001c0001t0075g0044 a0001c0001t0091g0102	8	102	0.0784	30	c.234 others(47): Show c.234+2936_234+2937insTTAAAAAATTTTCATTTTTATTTTTAGA AA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0038 a0001c0002t0006g0038	1	76	0.0132	30	c.-12 others(49): Show c.-122+7949_-122+7950insTTATATATATATATATATATATATAT ATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	63	0.0159	30	c.-12 others(51): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19000.hp1 HG01496.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0263 a0001c0002t0001g0258 a0001c0001t0001g0263 a0001c0002t0001g0258	2	118	0.0169	30	c.-23 others(51): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19000.hp1 HG01074.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0258 a0001c0002t0002g0280 a0001c0002t0001g0258 a0001c0002t0002g0280	2	252	0.0079	30	c.-58 others(51): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200522317	A A	ATTCTTTC others(23): Show ATTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0134 a0001c0003t0002g0134	1	100	0.0100	30	c.-39 others(41): Show c.-3938_-3937insTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3889		chr2	TogoVar
SGO2_chr2_200521207_200589096	200578150	C C	CTATAGAT others(23): Show CTATAGATATAGATATAGATATAGATATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(90): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18987.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0008 a0010 others(3): Show a0001 a0008 a0010 a0013 a0014 a0018	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0008c0013 a0010c0020 a0013c0025 a0014c0019 a0018c0017	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0008c0013t0001 a0010c0020t0001 a0013c0025t0001 a0014c0019t0001 a0018c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0262 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0284 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0309 a0001c0004t0001g0006 a0001c0004t0001g0017 a0001c0004t0001g0019 a0001c0004t0001g0052 a0001c0004t0001g0054 a0001c0004t0001g0060 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0068 a0001c0004t0001g0070 a0001c0004t0001g0072 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0008c0013t0001g0210 a0010c0020t0001g0092 a0013c0025t0001g0255 a0014c0019t0001g0005 a0018c0017t0001g0261	93	169	0.5503	30	c.378 others(49): Show c.3782+2694_3782+2723dupGATATAGATATAGATATAGATATAGA TATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGO2_chr2_200521207_200589096	200578177	T T	TAGATATA others(23): Show TAGATATAGATATAGATATAGATATAGATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18979.hp1 NA19087.hp2 HG00408.hp2 NA18979.hp1 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0063 a0001c0004t0001g0079 a0001c0004t0001g0056 a0001c0004t0001g0063 a0001c0004t0001g0079	3	377	0.0080	30	c.378 others(49): Show c.3782+2723_3782+2724insGATATAGATATAGATATAGATACAGA TATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA19005.hp1 NA20129.hp1 HG03834.hp1 NA19005.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0021g0080 a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0021g0080	3	50	0.0600	30	c.-23 others(41): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	166	0.0060	30	c.57+ others(45): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG02257.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0248 a0002c0002t0002g0151 a0001c0001t0001g0248 a0002c0002t0002g0151	2	94	0.0213	30	c.-29 others(47): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124375177	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	92	0.0109	30	c.37 others(41): Show c.3786_*3787insTCTCTCTATATATATATATATATATATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2018		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	254	0.0039	30	c.38 others(41): Show c.3811_*3812insATATATATATATATATATATACACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1B_chr1_162390268_162417136	162416448	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03017.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG03017.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0040 a0001c0001t0004g0163 a0001c0001t0004g0164	4	365	0.0110	30	c.-44 others(41): Show c.-4433_-4432insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4313		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02809.hp1 HG02970.hp2 others(1): Show HG00735.hp2 HG02809.hp1 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0028 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0035	4	65	0.0615	30	c.-34 others(39): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80533272	T T	TCCTCCTC others(23): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02723.hp2 HG03130.hp1 others(4): Show HG01081.hp2 HG02723.hp2 HG03130.hp1 HG03453.hp1 NA19043.hp2 NA19065.hp2 NA21309.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0016	a0001c0001 a0002c0002 a0012c0019 others(1): Show a0001c0001 a0002c0002 a0012c0019 a0016c0027	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0012c0019t0004 a0016c0027t0001	a0001c0001t0001g0029 a0001c0001t0004g0181 a0001c0001t0004g0183 others(4): Show a0001c0001t0001g0029 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0002c0002t0001g0127 a0012c0019t0004g0049 a0016c0027t0001g0182	7	165	0.0424	30	c.-50 others(41): Show c.-5060_-5059insCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		4629		chr10	TogoVar
SH3BGR_chr21_39446970_39520504	39510909	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	25	0.0400	30	c.436 others(45): Show c.436-762_436-733dupTATATATATATATATATATATATATATATA	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP2_chr4_2788085_2846096	2826666	C C	CTGTGTGT others(23): Show CTGTGTGTGTGCATGTCCGCATGTTGCTCTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0096 a0001c0004t0096	a0001c0004t0096g0138 a0001c0004t0096g0138	1	376	0.0027	30	c.429 others(45): Show c.429-547_429-546insGCATGTTGCTCTGTGTGTGTGTGCATGTCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(23): Show AAAAAAAAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	65	0.0154	30	c.118 others(47): Show c.118+1622_118+1623insAAAAAATAATAATAATAATAATAATAAT AA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(23): Show TATATATTATATATAATATATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp2 others(85): Show HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18985.hp2 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0002 a0009 a0002 a0009	a0002c0001 a0009c0015 a0002c0001 a0009c0015	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(7): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0012 a0002c0001t0014 a0002c0001t0015 a0002c0001t0022 a0009c0015t0001	a0002c0001t0001g0047 a0002c0001t0001g0069 a0002c0001t0001g0078 others(85): Show a0002c0001t0001g0047 a0002c0001t0001g0069 a0002c0001t0001g0078 a0002c0001t0001g0084 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0175 a0002c0001t0001g0184 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0218 a0002c0001t0001g0227 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0238 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0271 a0002c0001t0001g0309 a0002c0001t0001g0323 a0002c0001t0001g0327 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0002g0021 a0002c0001t0002g0050 a0002c0001t0002g0053 a0002c0001t0002g0055 a0002c0001t0002g0059 a0002c0001t0002g0062 a0002c0001t0002g0071 a0002c0001t0002g0081 a0002c0001t0002g0085 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0113 a0002c0001t0002g0116 a0002c0001t0002g0137 a0002c0001t0002g0151 a0002c0001t0002g0158 a0002c0001t0002g0168 a0002c0001t0002g0171 a0002c0001t0002g0180 a0002c0001t0002g0185 a0002c0001t0002g0191 a0002c0001t0002g0194 a0002c0001t0002g0199 a0002c0001t0002g0206 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0219 a0002c0001t0002g0220 a0002c0001t0002g0234 a0002c0001t0002g0241 a0002c0001t0002g0245 a0002c0001t0002g0247 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0274 a0002c0001t0002g0287 a0002c0001t0002g0292 a0002c0001t0002g0303 a0002c0001t0002g0306 a0002c0001t0002g0308 a0002c0001t0002g0312 a0002c0001t0002g0316 a0002c0001t0002g0319 a0002c0001t0002g0328 a0002c0001t0003g0058 a0002c0001t0003g0231 a0002c0001t0004g0099 a0002c0001t0004g0156 a0002c0001t0007g0060 a0002c0001t0007g0262 a0002c0001t0012g0242 a0002c0001t0014g0317 a0002c0001t0015g0070 a0002c0001t0022g0291 a0009c0015t0001g0223	88	315	0.2794	30	c.119 others(47): Show c.119-2641_119-2640insTATATATAATATATAGTATATATAATAT AT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(23): Show TATATATTATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02922.hp1 others(2): Show HG02615.hp2 HG02717.hp2 HG02922.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019	a0001c0002t0001g0005 a0001c0002t0002g0122 a0001c0002t0002g0257 others(2): Show a0001c0002t0001g0005 a0001c0002t0002g0122 a0001c0002t0002g0257 a0001c0002t0003g0012 a0001c0002t0019g0031	5	232	0.0216	30	c.119 others(47): Show c.119-2641_119-2640insTATATATAATATATATTATATATAATAT AT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(23): Show TATATATTATATATACTATATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	228	0.0044	30	c.119 others(47): Show c.119-2641_119-2640insTATATATACTATATAGTATATATAATAT AT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0353 a0001c0001t0010g0353	1	22	0.0455	30	c.496 others(47): Show c.496-3253_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272632	T T	TTACAAAA others(23): Show TTACAAAACAGAGTGCCTGTAGGATAAAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG02486.hp1 others(4): Show HG01109.hp1 HG01168.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG03130.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0002 a0001c0002t0001 a0003c0005t0002	a0001c0002t0001g0236 a0001c0002t0001g0255 a0001c0002t0001g0266 others(4): Show a0001c0002t0001g0236 a0001c0002t0001g0255 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0351 a0003c0005t0002g0006	7	361	0.0194	30	c.331 others(47): Show c.331-2756_331-2755insGTCTTTATCCTACAGGCACTCTGTTTTG TA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02155.hp2 HG03654.hp1 others(1): Show HG01069.hp1 HG02155.hp2 HG03654.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0004g0094	4	108	0.0370	30	c.113 others(49): Show c.113-29957_113-29928dupTCTCCCTCTCCCTCTCCCTCTCCCTC TCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp1 HG03710.hp1 others(2): Show HG01106.hp1 HG02818.hp1 HG03710.hp1 NA18962.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0206 a0001c0007t0001g0126 a0001c0001t0001g0021 a0001c0001t0001g0206 a0001c0007t0001g0126	5	36	0.1389	30	c.769 others(47): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL1_chr19_4355370_4405547	4364866	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp2 NA18906.hp1 others(1): Show HG02818.hp2 NA18522.hp2 NA18906.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0001t0001 a0001c0001t0005 a0001c0007t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0005g0273 others(1): Show a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0005g0273 a0001c0007t0001g0276	4	47	0.0851	30	c.331 others(45): Show c.331+586_331+615dupCACACACACACACACACACACACACACACA	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	4/9			chr19	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(23): Show GTTTCCTTCCCTTTCCTTTCCTTTCCGTTCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 HG01978.hp1 HG01258.hp2 HG01358.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0024 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0002g0024 a0001c0001t0006g0212 a0001c0001t0006g0213	3	201	0.0149	30	c.45+ others(47): Show c.45+43696_45+43697insCCCTTTCCTTTCCTTTCCGTTCCTTTCC TT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(23): Show GTTTCCTTCCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	199	0.0050	30	c.45+ others(47): Show c.45+43696_45+43697insCCCTTTCCTTTCCTTTCCTTTCCTTTCC TT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(23): Show GTTTCCTTTCCTTTCCTTTCCTTTCCGTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01258.hp1 others(5): Show HG00673.hp2 HG00733.hp2 HG01258.hp1 HG02165.hp2 HG02647.hp1 HG02647.hp2 HG03710.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0001g0113 a0001c0001t0001g0222 a0001c0001t0002g0202 a0001c0006t0001g0153	8	206	0.0388	30	c.45+ others(47): Show c.45+43698_45+43699insCTTTCCTTTCCTTTCCGTTCCTTTCCTT TC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622977	T T	TTTCCTTT others(23): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	233	0.0043	30	c.45+ others(47): Show c.45+43698_45+43699insCTTTCCTTTCCTTTCCTTTCCGTTCCTT TC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622982	T T	TTTCCTTT others(23): Show TTTCCTTTCCTTTCCTTTCCGTTCCTTTCCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	224	0.0045	30	c.45+ others(47): Show c.45+43698_45+43699insCTTTCCTTTCCTTTCCGTTCCTTTCCGT TC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0100 a0001c0001t0007g0100	1	102	0.0098	30	c.570 others(45): Show c.570+508_570+509insTATATATATATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01928.hp1 HG02132.hp1 others(8): Show HG00558.hp2 HG01928.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02818.hp1 NA18966.hp2 NA19002.hp1 NA19010.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0002c0006 a0003c0019	a0001c0001t0005 a0001c0002t0076 a0001c0002t0087 others(8): Show a0001c0001t0005 a0001c0002t0076 a0001c0002t0087 a0001c0003t0033 a0001c0003t0058 a0001c0003t0060 a0001c0003t0065 a0001c0008t0027 a0001c0010t0028 a0002c0006t0003 a0003c0019t0001	a0001c0001t0005g0185 a0001c0002t0076g0066 a0001c0002t0087g0192 others(8): Show a0001c0001t0005g0185 a0001c0002t0076g0066 a0001c0002t0087g0192 a0001c0003t0033g0065 a0001c0003t0058g0064 a0001c0003t0060g0032 a0001c0003t0065g0024 a0001c0008t0027g0215 a0001c0010t0028g0031 a0002c0006t0003g0125 a0003c0019t0001g0123	11	28	0.3929	30	c.73- others(43): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368468	T T	TTATATAT others(23): Show TTATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0143 a0001c0003t0017g0143	1	225	0.0044	30	c.427 others(47): Show c.427+5292_427+5321dupTAATATATATATATTTTATATATATATA TA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368496	T T	TTATATAT others(23): Show TTATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG04115.hp1 HG02080.hp2 HG02129.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0007 a0001c0001t0002 a0001c0001t0004 a0001c0002t0007	a0001c0001t0002g0139 a0001c0001t0004g0273 a0001c0002t0007g0108 a0001c0001t0002g0139 a0001c0001t0004g0273 a0001c0002t0007g0108	3	241	0.0124	30	c.427 others(47): Show c.427+5293_427+5294insTAATATATATATATTTTATATATATATA TA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169145761	A A	ATATATAA others(23): Show ATATATAAAATATATATTCTATATATTATTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02886.hp1 others(2): Show HG01109.hp2 HG02630.hp2 HG02886.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0029 a0001c0002t0003 a0001c0002t0012 a0001c0002t0029	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0012g0010 others(2): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0012g0010 a0001c0002t0012g0016 a0001c0002t0029g0215	5	214	0.0234	30	c.766 others(47): Show c.766-9142_766-9141insGAATAATATATAGAATATATATTTTATA TA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF1_chr4_169089259_169275956	169145978	T T	TTATTCTA others(23): Show TTATTCTATATAAAATATTACATATTCTATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp1 HG02647.hp1 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0002 a0008c0017t0002 a0001c0001t0002 a0008c0017t0002	a0001c0001t0002g0142 a0008c0017t0002g0137 a0001c0001t0002g0142 a0008c0017t0002g0137	2	210	0.0095	30	c.766 others(47): Show c.766-9388_766-9359dupTATAGAATATGTAATATTTTATATAGAA TA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109190722	G G	GGGTGTCT others(23): Show GGGTGTCTCCCTTCTTTTCCCAGTCACATGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	172	0.0058	30	c.573 others(49): Show c.573+60610_573+60639dupGGTGTCTCCCTTCTTTTCCCAGTCAC ATGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG01256.hp2 others(2): Show HG00738.hp2 HG01192.hp1 HG01256.hp2 HG03486.hp2 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0020 a0001c0001t0006g0033 a0001c0001t0008g0015 others(2): Show a0001c0001t0001g0020 a0001c0001t0006g0033 a0001c0001t0008g0015 a0001c0004t0001g0007 a0002c0002t0001g0169	5	54	0.0926	30	c.214 others(49): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18960.hp2 NA18998.hp1 others(1): Show HG02027.hp1 NA18960.hp2 NA18998.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0002t0019	a0001c0002t0002g0294 a0001c0002t0005g0115 a0001c0002t0016g0112 others(1): Show a0001c0002t0002g0294 a0001c0002t0005g0115 a0001c0002t0016g0112 a0001c0002t0019g0273	4	91	0.0440	30	c.576 others(47): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678919	T T	TTACAAGC others(23): Show TTACAAGCATTACAGGTAAGGGGTGAGGGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0135 a0001c0002t0012g0135	1	308	0.0032	30	c.257 others(49): Show c.2578-6806_2578-6805insCACCCTCACCCCTTACCTGTAATGCT TGTA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG03017.hp1 others(1): Show HG02647.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0014c0030	a0001c0002t0003 a0001c0003t0099 a0001c0009t0007 others(1): Show a0001c0002t0003 a0001c0003t0099 a0001c0009t0007 a0014c0030t0072	a0001c0002t0003g0277 a0001c0003t0099g0308 a0001c0009t0007g0270 others(1): Show a0001c0002t0003g0277 a0001c0003t0099g0308 a0001c0009t0007g0270 a0014c0030t0072g0074	4	270	0.0148	30	c.196 others(49): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0153 a0002c0001t0005g0153	1	36	0.0278	30	c.107 others(49): Show c.1078-3392_1078-3363dupGAAAAGAAAAGAAAAGAAAAGAAAAG AAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHC3_chr9_89000771_89183818	89080755	A A	ATATATAT others(23): Show ATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0007 a0001c0003t0047g0007	1	186	0.0054	30	c.546 others(47): Show c.546-2853_546-2852insCATATATATATATATATATATACATATA TA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	2/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAATAA others(23): Show AAAAATAAAATAACATAAAATAACATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG01261.hp2 HG00280.hp1 HG01106.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0006 a0001c0001t0004 a0001c0002t0006	a0001c0001t0004g0060 a0001c0002t0006g0001 a0001c0002t0006g0172 a0001c0001t0004g0060 a0001c0002t0006g0001 a0001c0002t0006g0172	3	43	0.0698	30	c.-40 others(41): Show c.-4063_-4062insATTTTATGTTATTTTATGTTATTTTATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02818.hp1 others(3): Show HG02622.hp2 HG02630.hp1 HG02818.hp1 HG03540.hp2 NA18747.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0004g0184 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0004g0184 a0001c0001t0006g0088 a0001c0001t0006g0195 a0001c0001t0012g0017	6	50	0.1200	30	c.656 others(47): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924699	A A	AGGAAAGG others(23): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	299	0.0033	30	c.118 others(49): Show c.1182+4947_1182+4948insCTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924976	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18970.hp2 HG03486.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0091 a0002c0002t0001g0012 a0001c0001t0001g0091 a0002c0002t0001g0012	2	289	0.0069	30	c.118 others(49): Show c.1182+4670_1182+4671insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar

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