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
SNTG2_chr2_945849_1372613	1222005	C C	CTGTCTCT others(41): Show CTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0097 a0003c0026t0001g0097	1	155	0.0065	48	c.719 others(67): Show c.719+12776_719+12777insGTCTCTGCCTCTCTCTGTCTCTGTCT CTCTGTCTCTGTCTCTCTGTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255875	T T	TATATATA others(41): Show TATATATAAATATATATAAATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG02280.hp1 others(3): Show HG00323.hp1 HG01175.hp1 HG02280.hp1 HG03490.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0063 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0003g0128 a0001c0002t0001g0186	6	138	0.0435	48	c.100 others(67): Show c.1006-3488_1006-3487insAATATATATAAATATATAAATATATA TAAATATATATATAAATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX10_chr7_26286862_26379383	26325306	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0264 a0001c0001t0001g0269	2	8	0.2500	48	c.-23 others(67): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATATATATATATATATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX6_chr14_34556093_34635148	34557496	A A	ATTCTTCT others(41): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	68	0.0147	48	c.56 others(59): Show c.5625_*5626insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX6_chr14_34556093_34635148	34557555	T T	TCTTCTTC others(41): Show TCTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0241 a0001c0002t0008g0241	1	289	0.0035	48	c.55 others(59): Show c.5566_*5567insGAAGAAGAAGAAAGAAGAAAGAAGAAAGAAGAAA GAAGAAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3537		chr14	TogoVar
SNX8_chr7_2246770_2319441	2268694	C C	CCCGGCCA others(41): Show CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0309 a0001c0001t0009g0309	1	258	0.0039	48	c.621 others(63): Show c.621+864_621+865insCGGGGGGCTGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGG	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157826833	T T	TATATATA others(41): Show TATATATATTATATTTTATATATAAATATATATTATATTTTATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	299	0.0033	48	c.12+ others(63): Show c.12+3423_12+3424insTTTTATATATAAATATATATTATATTTTAT ATATAAATATATATTATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827182	T T	TTATAGTT others(41): Show TTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0265 a0001c0003t0003g0265	1	289	0.0035	48	c.12+ others(63): Show c.12+3764_12+3765insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827182	T T	TTATAGTT others(41): Show TTATAGTTTATATAATATATAAACATATAGTTTATATATTATATAAACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02572.hp1 others(4): Show HG02109.hp2 HG02451.hp2 HG02572.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0005c0006t0001g0090	7	295	0.0237	48	c.12+ others(63): Show c.12+3764_12+3765insGTTTATATATTATATAAACATATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827211	T T	TTATAGTT others(41): Show TTATAGTTTATATAATATATAAACATATAGTTTATATATTATATAAACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02622.hp2 HG02976.hp2 others(1): Show HG01934.hp1 HG02622.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077	4	294	0.0136	48	c.12+ others(63): Show c.12+3793_12+3794insGTTTATATATTATATAAACATATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827240	T T	TTATAGTT others(41): Show TTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0267 a0001c0003t0003g0267	1	298	0.0034	48	c.12+ others(63): Show c.12+3822_12+3823insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827413	A A	ATTATAGT others(41): Show ATTATAGTTTATATATTATATAAACTTATAGTTTATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	300	0.0033	48	c.12+ others(63): Show c.12+3981_12+3982insTTATATAAACTTATAGTTTATATAATATAT AAACTTATAGTTTATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827442	A A	ATTATAGT others(41): Show ATTATAGTTTATATAATATATAAACTTATAGTTTATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18747.hp2 NA18945.hp2 others(1): Show HG00544.hp1 NA18747.hp2 NA18945.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0215 a0001c0001t0016g0197	4	293	0.0137	48	c.12+ others(63): Show c.12+4021_12+4068dupTTATAGTTTATATAATATATAAACTTATAG TTTATATAATATATAAAC	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157840058	G G	GGGGGTGT others(41): Show GGGGGTGTCTTTGGATCTCGGGAAAGAGCAGACCCTCAGGCTGGTGCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02273.hp2 HG02615.hp1 others(9): Show HG00408.hp1 HG02273.hp2 HG02615.hp1 HG02809.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG04115.hp1 NA18942.hp1 NA18983.hp1 NA19000.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0130 others(8): Show a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0003t0003g0002 a0001c0003t0003g0283	12	134	0.0896	48	c.12+ others(65): Show c.12+16758_12+16805dupGGGTGTCTTTGGATCTCGGGAAAGAGCA GACCCTCAGGCTGGTGCTTG	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157840076	C C	CGGGAAAG others(41): Show CGGGAAAGAGCAGACCCTCAGGCTGGTGCTTGGGGTGTCTTTGGATCTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	300	0.0033	48	c.12+ others(65): Show c.12+16677_12+16678insTGGGAAAGAGCAGACCCTCAGGCTGGTG CTTGGGGTGTCTTTGGATCT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	191	0.0052	48	c.949 others(65): Show c.949+5616_949+5617insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(41): Show ATATATATAAAAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0083 a0001c0001t0063g0083	1	85	0.0118	48	c.159 others(65): Show c.1597-366_1597-365insAAAATATATATATATTTATATATATAAA TATATATATATTTATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(41): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02970.hp1 others(2): Show HG02451.hp1 HG02723.hp1 HG02970.hp1 HG03540.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0021 a0001c0001t0010 a0001c0001t0021	a0001c0001t0010g0022 a0001c0001t0010g0056 a0001c0001t0010g0059 others(2): Show a0001c0001t0010g0022 a0001c0001t0010g0056 a0001c0001t0010g0059 a0001c0001t0010g0128 a0001c0001t0021g0047	5	89	0.0562	48	c.159 others(65): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT2_chr12_53098486_53129535	53105801	A A	AAGTTCTG others(41): Show AAGTTCTGGATCGCTAGGCCCCATGCCTCATGTGTACATGAGGTGAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp2 others(110): Show HG00140.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19068.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0003c0003 a0003c0009 a0003c0014 a0005c0008 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0003c0003t0002 a0003c0003t0007 a0003c0003t0010 a0003c0009t0007 a0003c0009t0011 a0003c0014t0002 a0005c0008t0002 a0006c0011t0001	a0001c0001t0001g0218 a0001c0001t0004g0211 a0001c0001t0006g0210 others(75): Show a0001c0001t0001g0218 a0001c0001t0004g0211 a0001c0001t0006g0210 a0001c0005t0001g0163 a0001c0005t0003g0169 a0001c0005t0004g0158 a0001c0005t0004g0162 a0001c0005t0004g0164 a0001c0005t0004g0165 a0001c0005t0004g0166 a0001c0005t0004g0167 a0001c0005t0004g0168 a0001c0005t0004g0171 a0001c0005t0004g0212 a0002c0002t0001g0175 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0003g0170 a0002c0002t0003g0172 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0005g0174 a0002c0002t0005g0261 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0160 a0002c0004t0001g0206 a0002c0004t0001g0208 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0004g0221 a0002c0004t0004g0222 a0002c0004t0005g0207 a0002c0004t0005g0209 a0002c0004t0009g0173 a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0012 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0227 a0003c0003t0002g0228 a0003c0003t0002g0229 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0002g0234 a0003c0003t0002g0235 a0003c0003t0002g0236 a0003c0003t0002g0237 a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0007g0002 a0003c0003t0010g0239 a0003c0009t0007g0226 a0003c0009t0007g0252 a0003c0009t0011g0257 a0003c0014t0002g0036 a0005c0008t0002g0041 a0005c0008t0002g0249 a0005c0008t0002g0250 a0005c0008t0002g0251 a0006c0011t0001g0220	113	408	0.2770	48	c.336 others(61): Show c.336-69_336-68insTGAGGTGAGCTAGTTCTGGATCGCTAGGCCCC ATGCCTCATGTGTACA	SOAT2	ENSG00000167780.12	transcript	ENST00000301466.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SOAT2_chr12_53098486_53129535	53105820	C C	CCCATGCC others(41): Show CCCATGCCTCATGTGTACATGAGGTGAGCTAGTTCTGGATCGCTAGGCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(52): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG01074.hp1 HG01081.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG02071.hp2 HG02258.hp2 HG02293.hp1 HG03139.hp2 HG03942.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18975.hp2 NA18976.hp1 NA18979.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19005.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0001 a0002c0002t0003 a0003c0009t0001 a0002c0002t0001 a0002c0002t0003 a0003c0009t0001	a0002c0002t0001g0005 a0002c0002t0001g0028 a0002c0002t0001g0029 others(40): Show a0002c0002t0001g0005 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0154 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0003g0189 a0003c0009t0001g0196	55	408	0.1348	48	c.336 others(61): Show c.336-69_336-68insTGAGGTGAGCTAGTTCTGGATCGCTAGGCTCC ATGCCTCATGTGTACA	SOAT2	ENSG00000167780.12	transcript	ENST00000301466.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01192.hp2 HG01071.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	2	48	0.0417	48	c.-90 others(65): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS7_chr17_38346844_38410593	38389894	T T	TATATATG others(41): Show TATATATGTACATATATATATATGTACATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0013 a0001c0001t0013g0014 a0001c0001t0013g0013 a0001c0001t0013g0014	2	287	0.0070	48	c.168 others(67): Show c.1682-5410_1682-5409insTGTACATATATATATATGTACATATA TATATATATATATGTACATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORBS2_chr4_185580523_185817194	185731449	C C	CCTCCCTC others(41): Show CCTCCCTCCCTCCCTGCCTGTCTCTCTCCCTCCCTCCCTGCCTGTCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0025 a0001c0009 a0001c0025	a0001c0009t0004 a0001c0025t0063 a0001c0009t0004 a0001c0025t0063	a0001c0009t0004g0287 a0001c0025t0063g0213 a0001c0009t0004g0287 a0001c0025t0063g0213	2	300	0.0067	48	c.-41 others(65): Show c.-41+2602_-41+2649dupAGAGACAGGCAGGGAGGGAGGGAGAGAG ACAGGCAGGGAGGGAGGGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449265	C C	CCCTTCCT others(41): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0016 a0001c0014t0016	a0001c0014t0016g0139 a0001c0014t0016g0139	1	165	0.0061	48	c.548 others(67): Show c.548+52913_548+52914insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35906547	T T	TCCACCAC others(41): Show TCCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	48	c.-33 others(59): Show c.-3325_-3324insCCACCACCACCACCACCCCCGCCACACCCCTCAC CACCTCCACCACCA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2942		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906589	A A	ACCACCAC others(41): Show ACCACCACCACCACCCCCACCGCCACCCCCACCACACCCCTCACCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	380	0.0053	48	c.-32 others(59): Show c.-3283_-3282insCCACCACCACCACCCCCACCGCCACCCCCACCAC ACCCCTCACCACCT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2900		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906595	A A	ACCACCAC others(41): Show ACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	48	c.-32 others(59): Show c.-3277_-3276insCCACCACCACCCCCGCCACACCCCTCACCACCTC CACCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2894		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914071	T T	TGTGTGTG others(41): Show TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01074.hp1 others(58): Show HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19058.hp1 NA19062.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0013g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0013g0002 a0001c0001t0016g0002 a0002c0002t0002g0002	61	398	0.1533	48	c.33 others(59): Show c.3380_*3381insGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2386		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914150	G G	GTGTGTGT others(41): Show GTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATTCTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03209.hp2 NA19240.hp1 HG02109.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	3	418	0.0072	48	c.34 others(59): Show c.3459_*3460insTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTT TTTGTATTCTGTGA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2465		chr9	TogoVar
SPAG16_chr2_213279464_214415501	214177908	T T	TATATATA others(41): Show TATATATATACATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	84	0.0119	48	c.172 others(69): Show c.1720+28649_1720+28650insTACATATATATATATATATATATA TATATATATATATATACATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177916	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	16	0.0625	48	c.172 others(69): Show c.1720+28668_1720+28669insATATATATATATACATATATATAT ATATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	78	0.0128	48	c.146 others(67): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATATATATATATATATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG9_chr17_50957174_51125868	51076997	G G	GCTAGCTA others(41): Show GCTAGCTAGCTAGCTATCTATCTAGCTATCTAGCTAGCTAGCTAGCTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0002 a0002c0004t0016g0002	1	279	0.0036	48	c.424 others(65): Show c.424+2586_424+2587insATAGCTAGCTAGCTAGCTAGATAGCTAG ATAGATAGCTAGCTAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0218 a0001c0003t0023g0218	1	91	0.0110	48	c.65 others(59): Show c.6510_*6511insTATATATATATATATATATATATATATATATATA TATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172960875	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0117 a0002c0005t0001g0117	1	79	0.0127	48	c.934 others(65): Show c.934-4052_934-4051insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA5_chr4_122918078_123324433	123118316	A A	ATATATTA others(41): Show ATATATTATATATAATTATATATAATATATATATTATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02559.hp1 others(8): Show HG01361.hp1 HG01891.hp1 HG02559.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0048 a0002c0002t0070 a0003c0003t0002	a0001c0001t0015g0181 a0002c0002t0001g0160 a0002c0002t0001g0162 others(8): Show a0001c0001t0015g0181 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 a0002c0002t0003g0152 a0002c0002t0003g0161 a0002c0002t0003g0168 a0002c0002t0007g0166 a0002c0002t0048g0157 a0002c0002t0070g0164 a0003c0003t0002g0015	11	44	0.2500	48	c.234 others(69): Show c.2340+27626_2340+27627insTATATATAATATATATATTATATT ATATATAATTATATTATATATAAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPC25_chr2_168865891_168895430	168889011	G G	GTATATAT others(41): Show GTATATATATACACATATATATACATATATATATACACATATATATACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp2 HG02280.hp1 others(2): Show HG01255.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	5	283	0.0177	48	c.199 others(63): Show c.199+167_199+214dupTGTATATATATGTGTATATATATATGTATA TATATGTGTATATATATA	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0003 a0001c0001t0020g0003	1	163	0.0061	48	c.-39 others(59): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	163	0.0061	48	c.-39 others(59): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPEF2_chr5_35612863_35819611	35751078	T T	TACGTATA others(41): Show TACGTATATATATACGTATATATATATACATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0054 a0034c0054	a0034c0054t0001 a0034c0054t0001	a0034c0054t0001g0185 a0034c0054t0001g0185	1	95	0.0105	48	c.333 others(67): Show c.3331-2544_3331-2543insGTATATATATACGTATATATATATAC ATATATATACACACACACACAC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPESP1_chr15_68925525_68951811	68944823	A A	AACTCTCC others(41): Show AACTCTCCTTCTACAACTACTACTCCCCTCAATAATACTAACTCTAAGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	400	0.0025	48	c.65- others(61): Show c.65-776_65-775insACTCTCCTTCTACAACTACTACTCCCCTCAAT AATACTAACTCTAAGT	SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1			chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG02293.hp1 others(5): Show HG01934.hp1 HG01934.hp2 HG02293.hp1 HG02486.hp2 HG02723.hp2 NA18988.hp1 NA18988.hp2 NA19001.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0005c0004	a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0004c0003t0001 a0005c0004t0003	a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0011g0084 others(5): Show a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0011g0084 a0002c0002t0001g0209 a0002c0002t0001g0256 a0002c0002t0001g0318 a0004c0003t0001g0303 a0005c0004t0003g0020	8	190	0.0421	48	c.33- others(63): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(41): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02145.hp1 others(5): Show HG00735.hp1 HG01891.hp2 HG02145.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0006 a0001c0010t0022 a0001c0001t0004 a0001c0001t0006 a0001c0010t0022	a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0188 others(5): Show a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0006g0321 a0001c0001t0006g0326 a0001c0001t0006g0333 a0001c0010t0022g0010	8	97	0.0825	48	c.611 others(65): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPINK2_chr4_56804861_56826701	56821746	A A	AGGGCGGG others(41): Show AGGGCGGGGAAAGGGGCGGGGGAAGGGGCGGGGGAAGGGGCGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG03209.hp1 others(5): Show HG02145.hp2 HG02723.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA20300.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0052 a0002c0002t0002g0055 others(4): Show a0002c0002t0002g0020 a0002c0002t0002g0052 a0002c0002t0002g0055 a0002c0002t0002g0183 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0197	8	370	0.0216	48	c.-85 others(55): Show c.-85_-84insCTTCCCCCGCCCCTTCCCCCGCCCCTTCCCCCGCCCCT TTCCCCGCCC	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		46		chr4	TogoVar
SPINK6_chr5_148198042_148220137	148209954	A A	ATATGTAT others(41): Show ATATGTATACATACACACGTACGTATGTATACATACACACGTACGTATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	413	0.0024	48	c.81+ others(63): Show c.81+3910_81+3911insCACGTACGTATGTATACATACACACGTACG TATGTATGTATACATACA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45724559	C C	CATTTGCT others(41): Show CATTTGCTCATTTTGCAGTTAGGAAATCAAATGCCCAGAGAGAAAATAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	456	0.0022	48	c.293 others(63): Show c.293+503_293+550dupATTTGCTCATTTTGCAGTTAGGAAATCAAA TGCCCAGAGAGAAAATAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATACACA others(41): Show TATACACATATATATATATATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	237	0.0042	48	c.294 others(63): Show c.294-613_294-612insCACATATATATATATATATATACACATATA TATATATATATACACATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(41): Show TATATACACATATATATATATATATATACACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	237	0.0042	48	c.294 others(63): Show c.294-611_294-610insCACATATATATATATATATATACACATATA TATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(41): Show TATATATACACATATATATATATATATACACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02622.hp2 HG02723.hp2 others(8): Show HG02300.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0030 a0002c0002t0004g0012 a0002c0002t0004g0030	11	247	0.0445	48	c.294 others(63): Show c.294-609_294-608insCACATATATATATATATATACACATATATA TATATATACACATATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	30	0.0333	48	c.180 others(65): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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