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
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01517.hp2 NA19079.hp2 others(1): Show HG01255.hp2 HG01517.hp2 NA19079.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0072 a0002c0002t0001 a0001c0001t0003 a0001c0001t0072 a0002c0002t0001	a0001c0001t0003g0158 a0001c0001t0003g0176 a0001c0001t0072g0155 others(1): Show a0001c0001t0003g0158 a0001c0001t0003g0176 a0001c0001t0072g0155 a0002c0002t0001g0232	4	52	0.0769	22	c.98+ others(39): Show c.98+36510_98+36511insATATATATATATTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0258 a0002c0002t0007g0258	1	49	0.0204	22	c.98+ others(39): Show c.98+36510_98+36511insATATATATATATATTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0335 a0001c0001t0014g0335	1	134	0.0075	22	c.-14 others(33): Show c.-1407_-1406insATATATATATTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA20752.hp2 NA18985.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0019 a0001c0001t0022	a0001c0001t0019g0316 a0001c0001t0022g0272 a0001c0001t0019g0316 a0001c0001t0022g0272	2	135	0.0148	22	c.-14 others(33): Show c.-1407_-1406insATATATATATATTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	134	0.0075	22	c.-14 others(33): Show c.-1407_-1406insATATATATATATATTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0349 a0001c0001t0004g0349	1	134	0.0075	22	c.-14 others(33): Show c.-1407_-1406insATATATATATATATATTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	291	0.0034	22	c.35 others(33): Show c.3582_*3583insTATATATATATATATATATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	161	0.0062	22	c.35 others(33): Show c.3550_*3551insAAAAAATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	161	0.0062	22	c.35 others(33): Show c.3550_*3551insAAAAAAAAAATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TGGTGTGT others(15): Show TGGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG02145.hp2 HG00642.hp1 HG01070.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0130 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0130	3	134	0.0224	22	c.-42 others(39): Show c.-42+1427_-42+1428insGGTGTGTGTGTGTGTGTGTGTG	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp1 HG01123.hp2 others(12): Show HG00544.hp1 HG01099.hp1 HG01123.hp2 HG01993.hp1 HG01993.hp2 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02647.hp1 NA18942.hp2 NA18948.hp2 NA18965.hp1 NA19009.hp1 NA19064.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0003t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0002g0013 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0003g0013 a0001c0001t0003g0090 a0001c0001t0003g0389 a0001c0001t0024g0111 a0001c0003t0001g0181 a0001c0003t0001g0182	15	146	0.1027	22	c.-42 others(39): Show c.-42+1429_-42+1450dupGTGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTCTTT others(15): Show CTCTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02559.hp1 HG02071.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0152 a0001c0001t0001g0164	2	195	0.0103	22	c.-47 others(33): Show c.-4728_-4727insTCTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	194	0.0052	22	c.-47 others(33): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76357150	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01978.hp2 HG03017.hp2 HG01261.hp1 HG01978.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0282 a0002c0002t0002g0286 a0002c0002t0002g0266 a0002c0002t0002g0282 a0002c0002t0002g0286	3	42	0.0714	22	c.385 others(41): Show c.3856-3032_3856-3011dupTGTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76357188	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0277	1	310	0.0032	22	c.385 others(41): Show c.3856-3049_3856-3048insGGTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00733.hp2 others(31): Show HG00140.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01175.hp1 HG01516.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp1 HG02109.hp2 HG02145.hp2 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp1 NA18961.hp2 NA18972.hp2 NA18998.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19062.hp2 NA19065.hp2 NA19083.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0015 a0003c0006 a0005c0009	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0011 a0002c0015t0002 a0003c0006t0001 a0005c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0004t0001g0130 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0252 a0002c0002t0002g0258 a0002c0002t0002g0266 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0287 a0002c0002t0002g0306 a0002c0003t0002g0200 a0002c0003t0002g0205 a0002c0003t0002g0212 a0002c0003t0011g0312 a0002c0015t0002g0220 a0003c0006t0001g0140 a0003c0006t0001g0145 a0005c0009t0001g0172	34	109	0.3119	22	c.331 others(41): Show c.3311+5190_3311+5211dupTATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428893	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0171 a0005c0009t0001g0171	1	310	0.0032	22	c.331 others(41): Show c.3311+5184_3311+5185insTTATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76431676	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0161 a0001c0004t0001g0161	1	15	0.0667	22	c.331 others(41): Show c.3311+2380_3311+2401dupTTTTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0228 a0002c0023t0002g0228	1	8	0.1250	22	c.295 others(43): Show c.2954+16123_2954+16144dupAAAAAAAAAAAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76510888	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0171 a0005c0009t0001g0171	1	135	0.0074	22	c.283 others(41): Show c.2839-5915_2839-5914insGCGCGCACACACACACACACAC	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76568190	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0170 a0005c0009t0001g0170	1	10	0.1000	22	c.283 others(41): Show c.2838+5946_2838+5967dupATATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76572919	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0127 a0010c0019t0001g0127	1	12	0.0833	22	c.283 others(41): Show c.2838+1217_2838+1238dupTGTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652369	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0003 a0007c0020t0003	a0007c0020t0003g0162 a0007c0020t0003g0162	1	209	0.0048	22	c.264 others(43): Show c.2645+13283_2645+13284insATATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACATA others(15): Show CACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	24	0.0417	22	c.264 others(43): Show c.2645+13281_2645+13282insATATATATATATATATATGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0262 a0002c0025t0002g0262	1	24	0.0417	22	c.264 others(43): Show c.2645+13281_2645+13282insATATATATATATATATATATGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667625	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02602.hp2 HG02257.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0010	2	39	0.0513	22	c.250 others(41): Show c.2509-1858_2509-1837dupTTTTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG02027.hp2 others(19): Show HG00544.hp1 HG01167.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp1 HG02896.hp1 HG03098.hp2 HG06807.hp1 NA18946.hp1 NA18957.hp2 NA18965.hp1 NA18973.hp2 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19064.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0311 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0177 a0001c0004t0001g0128 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0161 a0001c0007t0001g0025	22	66	0.3333	22	c.216 others(41): Show c.2165+2449_2165+2470dupATATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGGTGAGA others(15): Show GGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02738.hp1 HG01981.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0254 a0001c0001t0002g0302 a0001c0001t0001g0254 a0001c0001t0002g0302	2	21	0.0952	22	c.244 others(37): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(15): Show GGTGAGAGGGGGCGGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	20	0.0500	22	c.244 others(37): Show c.2448-69_2448-68insTTCTCCCCCCGCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(15): Show GGTGAGAGGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	20	0.0500	22	c.244 others(37): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417900	A A	AGGGGGCG others(15): Show AGGGGGCGGGGGAGAAGTGAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	302	0.0033	22	c.244 others(37): Show c.2448-75_2448-74insCTCTCACTTCTCCCCCGCCCCC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417903	G G	GGGCGGGG others(15): Show GGGCGGGGGAGAAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	302	0.0033	22	c.244 others(37): Show c.2448-78_2448-77insACCCTCTCACTTCTCCCCCGCC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417939	T T	TGGGGGGA others(15): Show TGGGGGGAGAGGGTGGTGCGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp2 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0194 a0001c0005t0001g0195	2	281	0.0071	22	c.244 others(39): Show c.2448-135_2448-114dupCCCCGCACCACCCTCTCCCCCC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473079	T T	TCAAAAAA others(15): Show TCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG01346.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	302	0.0066	22	c.-99 others(39): Show c.-99+2719_-99+2720insTTTTTTTTTTTTTTTTTTTTTG	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00621.hp2 others(23): Show HG00408.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG01109.hp2 HG01175.hp2 HG01261.hp2 HG01928.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp2 HG02135.hp1 HG02257.hp1 HG03017.hp1 HG03225.hp1 HG04115.hp1 HG04199.hp2 NA18947.hp1 NA18972.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp2 NA19066.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0016 a0001c0001 a0002c0002 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0013c0016t0001	a0001c0001t0001g0042 a0001c0001t0001g0173 a0001c0001t0001g0174 others(23): Show a0001c0001t0001g0042 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0281 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0005g0235 a0001c0001t0005g0237 a0002c0002t0001g0251 a0013c0016t0001g0246	26	52	0.5000	22	c.-99 others(39): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27653570	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	216	0.0046	22	c.226 others(39): Show c.226+1952_226+1973dupGTGTGTGTGTGTGTGTGTGTGT	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27947037	A A	AGTCTCGC others(15): Show AGTCTCGCTCTGTCACCCAGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0084 a0002c0006t0007g0084	1	312	0.0032	22	c.241 others(41): Show c.241+19355_241+19376dupAGCCTGGGTGACAGAGCGAGAC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCCPDH_chr1_246719409_246773137	246756211	A A	AGTAATAT others(15): Show AGTAATATTACACTCAGTAATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	408	0.0025	22	c.565 others(39): Show c.565-2015_565-2014insGTAATATTACACTCAGTAATAT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	5/11			chr1	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	42	0.0238	22	c.569 others(41): Show c.569+15707_569+15708insTATATATATATATATATATATA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	42	0.0238	22	c.569 others(41): Show c.569+15707_569+15708insTATATAGAGAGAGAGAGAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	42	0.0238	22	c.569 others(41): Show c.569+15707_569+15708insTAGAGAGAGAGAGAGAGAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02615.hp1 NA18983.hp2 others(2): Show HG01070.hp1 HG02615.hp1 NA18983.hp2 NA19056.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0003c0005 a0001c0004 a0003c0003 a0003c0005	a0001c0004t0002 a0003c0003t0001 a0003c0005t0002 a0001c0004t0002 a0003c0003t0001 a0003c0005t0002	a0001c0004t0002g0114 a0001c0004t0002g0121 a0003c0003t0001g0001 others(1): Show a0001c0004t0002g0114 a0001c0004t0002g0121 a0003c0003t0001g0001 a0003c0005t0002g0052	5	106	0.0472	22	c.169 others(39): Show c.1692-934_1692-913dupAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD1_chr14_30617319_30740850	30668166	A A	AACCAAAA others(15): Show AACCAAAACAGCATGGTACTGGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	326	0.0031	22	c.856 others(39): Show c.856-2088_856-2087insCAAAACAGCATGGTACTGGTAC	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52959897	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG02602.hp2 others(3): Show HG00423.hp1 HG00423.hp2 HG02602.hp2 HG02976.hp2 HG03704.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0004t0007 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0004t0007 a0001c0007t0003 a0002c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0004t0007g0151 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0004t0007g0151 a0001c0007t0003g0025 a0002c0002t0001g0113 a0002c0002t0001g0118	6	101	0.0594	22	c.156 others(43): Show c.1562-39049_1562-39028dupGTGTGTGTGTGTGTGTGTGTGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp1 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0045 a0001c0001t0001g0010 a0001c0001t0001g0045	2	49	0.0408	22	c.156 others(43): Show c.1562-86457_1562-86436dupTCTCTCTCTCTCTCTCTCTCTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG01192.hp2 others(2): Show HG00408.hp2 HG00735.hp2 HG01192.hp2 HG02735.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0003t0003 a0001c0003t0005	a0001c0001t0001g0128 a0001c0001t0004g0089 a0001c0001t0008g0091 others(2): Show a0001c0001t0001g0128 a0001c0001t0004g0089 a0001c0001t0008g0091 a0001c0003t0003g0133 a0001c0003t0005g0127	5	13	0.3846	22	c.156 others(41): Show c.1561+4940_1561+4941insATATATATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258538	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	53	0.0189	22	c.131 others(43): Show c.1311+15287_1311+15288insTATATATATATATATATATACA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258577	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	79	0.0127	22	c.131 others(43): Show c.1311+15248_1311+15249insGTGTATATATATATATATATAT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704244	C C	CATACATA others(15): Show CATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03704.hp1 NA18980.hp2 others(1): Show HG00621.hp1 HG03704.hp1 NA18980.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0131 a0001c0001t0002g0173 others(1): Show a0001c0001t0002g0023 a0001c0001t0002g0131 a0001c0001t0002g0173 a0001c0001t0002g0174	4	113	0.0354	22	c.120 others(41): Show c.1207+3003_1207+3004insCATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704244	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp1 HG03098.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0093 a0001c0001t0003g0007 a0001c0001t0002g0093 a0001c0001t0003g0007	2	111	0.0180	22	c.120 others(41): Show c.1207+3014_1207+3035dupTATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar

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