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
SMN1_chr5_70920087_70958015	70954867	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	36	0.0278	-36	c.24 others(47): Show c.2433_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1853		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168636892	ACCTCCCT others(29): Show ACCTCCCTCCTGCCCGCATCCCTCCTCCCTCCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	134	0.0075	-36	c.908 others(55): Show c.908-13782_908-13747delTCCTGCCCGCATCCCTCCTCCCTCCT CCCCCCTCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMUG1_chr12_54175366_54193985	54193700	GGCCGGAC others(29): Show GGCCGGACAATCTGTCTGAGTGGTGTTAGAGTTGTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	436	0.0023	-36	c.-48 others(47): Show c.-4889_-4854delGGACAACTCTAACACCACTCAGACAGATTGTCCG GC	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding		4716		chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp1 NA19043.hp2 HG02622.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0035 a0001c0001t0036 a0001c0001t0003 a0001c0001t0035 a0001c0001t0036	a0001c0001t0003g0051 a0001c0001t0035g0195 a0001c0001t0036g0204 a0001c0001t0003g0051 a0001c0001t0035g0195 a0001c0001t0036g0204	3	122	0.0246	-36	c.56- others(51): Show c.56-1440_56-1405delTATATATATATATATATATATATATATATA TATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD3_chr1_245744347_246512279	245993607	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02165.hp1 HG00621.hp2 HG02165.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0029 a0002c0003t0001g0100 a0001c0001t0001g0029 a0002c0003t0001g0100	2	149	0.0134	-36	c.532 others(55): Show c.532-63706_532-63671delGTCTGTCTGTCTATCTATCTATCTAT CTATCTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246107507	CTCCCCAC others(29): Show CTCCCCACTGAAGCAAGGAATGGATAGAATAAGTCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02615.hp2 HG00738.hp1 HG01433.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0004t0001g0132 a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0004t0001g0132	3	150	0.0200	-36	c.532 others(57): Show c.532-177606_532-177571delAGGACTTATTCTATCCATTCCTTG CTTCAGTGGGGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNAP25_chr20_10213830_10312418	10260688	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	70	0.0143	-36	c.-63 others(55): Show c.-63-14723_-63-14688delCACACACACACACACACAAACACACA CACACACACA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAP25_chr20_10213830_10312418	10282146	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGATGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02895.hp2 HG02055.hp1 HG02258.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0284 a0001c0001t0002g0108 a0001c0001t0001g0041 a0001c0001t0001g0284 a0001c0001t0002g0108	3	283	0.0106	-36	c.115 others(53): Show c.115-2562_115-2527delTGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAPC2_chr19_7915338_7928250	7924264	CAGCCCTG others(29): Show CAGCCCTGGGAAGCTTTAAAAACATGCAAAAGCCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-36	c.15 others(47): Show c.1501_*1536delAGCCCTGGGAAGCTTTAAAAACATGCAAAAGCCA GA	SNAPC2	ENSG00000104976.13	transcript	ENST00000221573.11	protein_coding		1015		chr19	TogoVar
SNCA_chr4_89719099_89842161	89749914	GTGTATAT others(29): Show GTGTATATATATATACACAAAAGCAGATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0072 a0001c0001t0002g0254 a0001c0001t0002g0260	3	338	0.0089	-36	c.307 others(55): Show c.307-20673_307-20638delTATATATATATCTGCTTTTGTGTATA TATATATACA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp2 others(12): Show HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03579.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0212 a0001c0002t0004g0014 a0001c0002t0004g0015 others(9): Show a0001c0001t0001g0212 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0215 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0004g0221 a0001c0002t0004g0222	15	26	0.5769	-36	c.732 others(51): Show c.732-448_732-413delATATATATATATATATATATATATATATAT ATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP27_chr2_69888956_69910236	69909550	TGTCTGCA others(29): Show TGTCTGCAAATAATATTCCATTCTATAGTTATACCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	438	0.0023	-36	c.52 others(47): Show c.5243_*5278delGTCTGCAAATAATATTCCATTCTATAGTTATACC AC	SNRNP27	ENSG00000124380.11	transcript	ENST00000244227.8	protein_coding		4315		chr2	TogoVar
SNTB2_chr16_69182164_69314052	69216339	ATCTTCAT others(29): Show ATCTTCATAATAATTCCCTAAGGATAGGTATTATGAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	216	0.0046	-36	c.580 others(55): Show c.580+28595_580+28630delCTTCATAATAATTCCCTAAGGATAGG TATTATGATT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	50259508	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01071.hp2 others(23): Show HG00280.hp2 HG00621.hp1 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01978.hp2 HG02145.hp1 HG02300.hp2 HG02698.hp1 HG02965.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp2 NA18968.hp1 NA18992.hp1 NA19060.hp1 NA19085.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0002t0025 a0001c0002t0029 a0001c0002t0045	a0001c0001t0002g0010 a0001c0001t0002g0068 a0001c0001t0004g0088 others(23): Show a0001c0001t0002g0010 a0001c0001t0002g0068 a0001c0001t0004g0088 a0001c0001t0004g0094 a0001c0001t0008g0061 a0001c0001t0008g0091 a0001c0001t0012g0049 a0001c0001t0013g0067 a0001c0001t0024g0058 a0001c0001t0026g0095 a0001c0001t0028g0093 a0001c0001t0031g0055 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0025g0090 a0001c0002t0029g0089 a0001c0002t0045g0046	26	95	0.2737	-36	c.-28 others(55): Show c.-28+86903_-28+86938delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	11	0.0909	-36	c.72+ others(53): Show c.72+54772_72+54807delTATATATATATATATATATATATATATA TATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056704	CGCTGTGG others(29): Show CGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp2 HG02717.hp1 others(5): Show HG00099.hp2 HG01169.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03540.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0005c0006t0001 a0001c0001t0001 a0001c0002t0001 a0005c0006t0001	a0001c0001t0001g0173 a0001c0002t0001g0084 a0001c0002t0001g0141 others(5): Show a0001c0001t0001g0173 a0001c0002t0001g0084 a0001c0002t0001g0141 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	8	187	0.0428	-36	c.73- others(53): Show c.73-26787_73-26752delACGGCGCCCTGCTGTGGGGAGGGAGGGA GGGAGAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221795	CTGTCTCT others(29): Show CTGTCTCTGTCTCTCTCTCGGTCTCTGTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	183	0.0055	-36	c.719 others(55): Show c.719+12567_719+12602delGTCTCTGTCTCTCTCTCGGTCTCTGT CTCTCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222063	GTTTCTCT others(29): Show GTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02145.hp2 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0118 a0001c0002t0002g0076 a0001c0002t0001g0118 a0001c0002t0002g0076	2	166	0.0120	-36	c.719 others(55): Show c.719+12835_719+12870delTTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842525	AAAGAGAA others(29): Show AAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01070.hp2 others(27): Show HG00140.hp1 HG00438.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01496.hp2 HG01934.hp1 HG02083.hp2 HG02257.hp2 HG02523.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG03098.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 NA18906.hp1 NA18946.hp1 NA18947.hp2 NA18964.hp1 NA18985.hp1 NA18998.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0002t0003 a0003c0004t0004	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0142 others(26): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0114 a0001c0001t0004g0135 a0001c0001t0004g0225 a0001c0001t0005g0031 a0001c0001t0012g0141 a0001c0001t0016g0224 a0001c0002t0003g0003 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0071 a0001c0002t0003g0085 a0001c0002t0003g0094 a0001c0002t0003g0105 a0003c0004t0004g0116	30	274	0.1095	-36	c.-53 others(45): Show c.-536_-501delGCTCTCGCTCTCTCCCTCGCTCGTTTTCTTTCTCTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		341		chr8	TogoVar
SNX18_chr5_54512759_54551586	54513823	ATATATAA others(29): Show ATATATAATATATAAATATATATGATATATATAAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01361.hp1 HG00140.hp2 HG01361.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0039 a0001c0007t0012g0039	2	228	0.0088	-36	c.-41 others(47): Show c.-4129_-4094delTATATAATATATAAATATATATGATATATATAAA TT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3935		chr5	TogoVar
SNX25_chr4_185204598_185368966	185224494	GATATATA others(29): Show GATATATAAATATATAGATATATAAATATATATACAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02572.hp2 others(15): Show HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03540.hp2 NA19030.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0007 a0010c0019	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0003c0007t0001 a0010c0019t0005	a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0185 others(15): Show a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0006t0001g0068 a0001c0006t0001g0069 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0003c0007t0001g0070 a0003c0007t0001g0184 a0010c0019t0005g0267	18	274	0.0657	-36	c.429 others(55): Show c.429+14255_429+14290delGATATATAAATATATATACATATATA TAAATATATA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX25_chr4_185204598_185368966	185260173	ATTTTATT others(29): Show ATTTTATTTTCTTACTTAAAAGAAAGTAAAACATTGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01981.hp2 HG01993.hp1 others(1): Show HG01257.hp1 HG01981.hp2 HG01993.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0098 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099	4	272	0.0147	-36	c.731 others(53): Show c.731+1142_731+1177delTTGGTTTTATTTTCTTACTTAAAAGAAA GTAAAACA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151652212	GGGAGAGG others(29): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0014 a0001c0001t0105g0014	1	364	0.0027	-36	c.544 others(53): Show c.544-6003_544-5968delGAGAGGGAGAGGGAGACGGAGAGGGAGA GGGAGAGG	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	11978212	AAATGATT others(29): Show AAATGATTTTAAGCCTAAGTATGGTTTCTGATTCGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0097 a0001c0004t0097	a0001c0004t0097g0125 a0001c0004t0097g0125	1	174	0.0057	-36	c.7+1 others(49): Show c.7+1404_7+1439delATTTTAAGCCTAAGTATGGTTTCTGATTCGTG AATG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12393381	GATTCATT others(29): Show GATTCATTCATTCATGCATGCATGCATGCATGCATTC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0136 a0001c0002t0003g0136	1	156	0.0064	-36	c.190 others(55): Show c.1900-5050_1900-5015delGCATGCATGCATGCATGCATTCATTC ATTCATTCAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12575842	TTTTTTGT others(29): Show TTTTTTGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0098 a0008c0010t0098	a0008c0010t0098g0022 a0008c0010t0098g0022	1	154	0.0065	-36	c.72 others(47): Show c.7214_*7249delTTTTTGTTTTTTTTGTTTTTGTTTTTATTTTTTT TA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1556		chr16	TogoVar
SNX6_chr14_34556093_34635148	34557496	ATTCTTCT others(29): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01070.hp1 others(8): Show HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01255.hp2 HG01884.hp2 HG02486.hp1 HG02615.hp2 HG03516.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0210 a0001c0001t0002g0049 a0001c0001t0002g0050 others(8): Show a0001c0001t0001g0210 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0312 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0131	11	78	0.1410	-36	c.55 others(47): Show c.5590_*5625delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX8_chr7_2246770_2319441	2314987	ATCATTCA others(29): Show ATCATTCACCCACTCACTCACTGCATCCTGCATTCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG02809.hp2 others(4): Show HG01099.hp1 HG02109.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp2 HG04199.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0003t0006 a0003c0007t0012	a0001c0001t0002g0225 a0001c0001t0005g0350 a0001c0001t0005g0351 others(4): Show a0001c0001t0002g0225 a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0021g0349 a0001c0001t0021g0352 a0001c0003t0006g0012 a0003c0007t0012g0011	7	368	0.0190	-36	c.-60 others(45): Show c.-602_-567delATGAATGCAGGATGCAGTGAGTGAGTGGGTGAATGA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		547		chr7	TogoVar
SNX8_chr7_2246770_2319441	2316605	GCACTGCA others(29): Show GCACTGCATCCTGCATTCATTCACACAACCACTCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG03225.hp1 others(4): Show HG02965.hp1 HG03041.hp1 HG03225.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022	a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0167 others(4): Show a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0008g0160 a0001c0001t0008g0168 a0001c0001t0022g0163 a0001c0001t0022g0164	7	368	0.0190	-36	c.-22 others(47): Show c.-2220_-2185delAGTGAGTGGTTGTGTGAATGAATGCAGGATGCAG TG	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		2165		chr7	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02559.hp2 others(4): Show HG01192.hp1 HG01891.hp1 HG02559.hp2 HG02922.hp1 NA18612.hp1 NA19076.hp2 NA19081.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0005c0006	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0002c0003t0001g0018 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0002c0003t0001g0018 a0002c0003t0001g0051 a0003c0004t0001g0184 a0005c0006t0001g0161	7	65	0.1077	-36	c.11 others(47): Show c.1181_*1216delACACACACACACACACACACACACACACACACAC AC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SON_chr21_33538038_33582481	33577667	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0014 a0001c0053t0001g0014	1	360	0.0028	-36	c.12 others(47): Show c.1244_*1279delCACACACACACACACACACACACACACACACACA CC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		187		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7482205	TGTTCAGA others(29): Show TGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0076 a0001c0002t0007g0076	1	168	0.0060	-36	c.549 others(55): Show c.549-49323_549-49288delTTCAGACCTGTATCCCCGCTGCGGAC ACCCCTGACG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7500552	TCAGTGTG others(29): Show TCAGTGTGCCGGCTGGAGAAATAACCACAGAAAGCAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01243.hp2 others(45): Show HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18962.hp2 NA18966.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0028 a0001c0041 a0001c0048 a0002c0004 a0003c0012 a0003c0013 a0003c0035 a0003c0042 a0003c0046 a0004c0007 a0004c0044 a0005c0021 a0005c0022 a0006c0045 a0008c0056 a0010c0032 a0014c0052 a0016c0040 a0017c0019	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(42): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0002t0003 a0001c0002t0010 a0001c0003t0014 a0001c0003t0016 a0001c0003t0020 a0001c0003t0023 a0001c0005t0003 a0001c0005t0005 a0001c0005t0006 a0001c0005t0008 a0001c0005t0016 a0001c0009t0037 a0001c0010t0026 a0001c0010t0059 a0001c0010t0060 a0001c0014t0001 a0001c0014t0016 a0001c0015t0011 a0001c0028t0027 a0001c0041t0006 a0001c0048t0001 a0002c0004t0002 a0003c0012t0034 a0003c0013t0018 a0003c0035t0008 a0003c0042t0004 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0004c0044t0041 a0005c0021t0056 a0005c0022t0033 a0006c0045t0001 a0008c0056t0018 a0010c0032t0019 a0014c0052t0003 a0016c0040t0003 a0017c0019t0013	a0001c0001t0003g0097 a0001c0001t0006g0125 a0001c0001t0013g0099 others(45): Show a0001c0001t0003g0097 a0001c0001t0006g0125 a0001c0001t0013g0099 a0001c0001t0017g0052 a0001c0001t0054g0007 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0010g0045 a0001c0003t0014g0034 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0003t0023g0147 a0001c0005t0003g0032 a0001c0005t0005g0102 a0001c0005t0006g0157 a0001c0005t0008g0065 a0001c0005t0008g0154 a0001c0005t0016g0104 a0001c0009t0037g0042 a0001c0010t0026g0105 a0001c0010t0059g0163 a0001c0010t0060g0167 a0001c0014t0001g0040 a0001c0014t0016g0139 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0028t0027g0152 a0001c0041t0006g0031 a0001c0048t0001g0146 a0002c0004t0002g0013 a0003c0012t0034g0010 a0003c0013t0018g0100 a0003c0035t0008g0075 a0003c0042t0004g0066 a0003c0046t0001g0164 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0044t0041g0016 a0005c0021t0056g0103 a0005c0022t0033g0153 a0006c0045t0001g0148 a0008c0056t0018g0061 a0010c0032t0019g0149 a0014c0052t0003g0030 a0016c0040t0003g0024 a0017c0019t0013g0027	48	168	0.2857	-36	c.549 others(55): Show c.549-30911_549-30876delAAGCACCAGTGTGCCGGCTGGAGAAA TAACCACAGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676920	CTCCCTCT others(29): Show CTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp2 HG03453.hp1 HG01361.hp1 HG02258.hp2 HG03453.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0038 a0003c0035 a0013c0055 a0001c0038 a0003c0035 a0013c0055	a0001c0038t0032 a0003c0035t0008 a0013c0055t0006 a0001c0038t0032 a0003c0035t0008 a0013c0055t0006	a0001c0038t0032g0128 a0003c0035t0008g0075 a0013c0055t0006g0150 a0001c0038t0032g0128 a0003c0035t0008g0075 a0013c0055t0006g0150	3	168	0.0179	-36	c.134 others(53): Show c.1341+692_1341+727delTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTGCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724766	ATGATGGT others(29): Show ATGATGGTGGTGATGGTGCTGGTGAGGATGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02886.hp2 HG03688.hp2 HG02165.hp2 HG02886.hp2 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0029 a0002c0004 a0001c0003 a0001c0029 a0002c0004	a0001c0003t0010 a0001c0029t0061 a0002c0004t0022 a0001c0003t0010 a0001c0029t0061 a0002c0004t0022	a0001c0003t0010g0021 a0001c0029t0061g0162 a0002c0004t0022g0114 a0001c0003t0010g0021 a0001c0029t0061g0162 a0002c0004t0022g0114	3	168	0.0179	-36	c.261 others(53): Show c.2612-385_2612-350delATGGTGGTGATGGTGCTGGTGAGGATGG TGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02293.hp2 HG02572.hp2 others(7): Show HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03704.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0005 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0005 a0001c0001t0003g0032 a0001c0001t0009g0045 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0030g0206 a0001c0001t0031g0043 a0001c0002t0001g0015	10	38	0.2632	-36	c.110 others(55): Show c.1102-7631_1102-7596delTATATATATATATATATATATATATA TATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(29): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01167.hp2 others(24): Show HG00544.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG04115.hp1 NA18948.hp1 NA18964.hp2 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp2 NA19054.hp2 NA19060.hp1 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0024 a0001c0001t0042 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0168 a0001c0001t0002g0050 a0001c0001t0002g0052 others(24): Show a0001c0001t0001g0168 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0208 a0001c0001t0003g0171 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0005g0085 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0008g0086 a0001c0001t0008g0095 a0001c0001t0012g0048 a0001c0001t0016g0054 a0001c0001t0024g0083 a0001c0001t0042g0215 a0001c0002t0001g0163 a0001c0003t0002g0087	27	193	0.1399	-36	c.778 others(55): Show c.778-20375_778-20340delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132302	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0037 a0001c0001t0041g0037	1	213	0.0047	-36	c.778 others(55): Show c.778-20415_778-20380delTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230435940	TCATGTCC others(29): Show TCATGTCCTTTGCAGGGACATGGATGAAGCTGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01074.hp2 others(21): Show HG00280.hp1 HG00738.hp2 HG01074.hp2 HG01109.hp2 HG01192.hp2 HG01261.hp2 HG01884.hp2 HG02145.hp1 HG02148.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp2 HG02809.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0006c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0003t0002 a0001c0003t0004 a0001c0009t0007 a0002c0002t0001 a0002c0005t0001 a0002c0005t0013 a0003c0004t0002 a0003c0004t0003 a0004c0006t0004 a0006c0016t0004	a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0283 others(21): Show a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0004g0270 a0001c0001t0005g0095 a0001c0001t0005g0127 a0001c0001t0010g0130 a0001c0001t0019g0126 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0281 a0001c0003t0004g0125 a0001c0009t0007g0272 a0002c0002t0001g0028 a0002c0005t0001g0129 a0002c0005t0013g0128 a0003c0004t0002g0269 a0003c0004t0003g0271 a0004c0006t0004g0182 a0004c0006t0004g0277 a0004c0006t0004g0282 a0006c0016t0004g0280	24	288	0.0833	-36	c.108 others(53): Show c.108-6993_108-6958delGTCCTTTGCAGGGACATGGATGAAGCTG GAGGCCAT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02818.hp2 others(3): Show HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG03195.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0119 a0002c0002t0011g0145 a0002c0002t0011g0157 others(3): Show a0002c0002t0011g0119 a0002c0002t0011g0145 a0002c0002t0011g0157 a0002c0002t0011g0158 a0002c0002t0011g0159 a0002c0002t0011g0160	6	7	0.8571	-36	c.205 others(53): Show c.2053-628_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP7_chr12_53321575_53341354	53333844	GACTGGTG others(29): Show GACTGGTGTGCCTTCGTGTTGCAGGCATCTCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG03195.hp2 others(1): Show HG01891.hp1 HG02886.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0119 a0001c0001t0001g0021 a0001c0001t0001g0119	4	368	0.0109	-36	c.21+ others(51): Show c.21+1746_21+1781delGAGCTGGAGATGCCTGCAACACGAAGGCAC ACCAGT	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	2/2			chr12	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	46	0.0217	-36	c.107 others(59): Show c.1070+153258_1070+153293delTTATATATATATATATATATAT ATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213871855	CACACACA others(29): Show CACACACACACACACACACACACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0059 a0003c0003t0001g0059	1	86	0.0116	-36	c.121 others(55): Show c.1214+9229_1214+9264delCACACACACACACACACACACACAGA GAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980380	CTATATAT others(29): Show CTATATATATAGAATATATGTGTGTATATATATTCTA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	82	0.0122	-36	c.140 others(57): Show c.1401-33502_1401-33467delTCTATATATATATAGAATATATGT GTGTATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(48): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02273.hp1 HG02622.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp2 HG03654.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18943.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0003 a0002c0001 a0003c0004 others(3): Show a0001c0003 a0002c0001 a0003c0004 a0003c0006 a0003c0018 a0008c0019	a0001c0003t0003 a0002c0001t0001 a0003c0004t0001 others(3): Show a0001c0003t0003 a0002c0001t0001 a0003c0004t0001 a0003c0006t0001 a0003c0018t0001 a0008c0019t0001	a0001c0003t0003g0213 a0002c0001t0001g0288 a0002c0001t0001g0297 others(46): Show a0001c0003t0003g0213 a0002c0001t0001g0288 a0002c0001t0001g0297 a0003c0004t0001g0001 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0044 a0003c0004t0001g0045 a0003c0004t0001g0046 a0003c0004t0001g0047 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0054 a0003c0004t0001g0055 a0003c0004t0001g0060 a0003c0004t0001g0062 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0048 a0003c0006t0001g0050 a0003c0006t0001g0057 a0003c0006t0001g0058 a0003c0006t0001g0059 a0003c0006t0001g0063 a0003c0006t0001g0064 a0003c0006t0001g0065 a0003c0006t0001g0066 a0003c0006t0001g0069 a0003c0006t0001g0073 a0003c0006t0001g0340 a0003c0018t0001g0061 a0008c0019t0001g0049	51	116	0.4397	-36	c.153 others(55): Show c.1535+1097_1535+1132delATATATATATATATATATATATATAT ATATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG9_chr17_50957174_51125868	51077057	GCTATCTA others(29): Show GCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTAT	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03516.hp1 HG03579.hp1 HG02300.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0105 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0001t0002g0105 a0001c0002t0001g0278 a0001c0002t0001g0280	3	261	0.0115	-36	c.424 others(53): Show c.424+2491_424+2526delATAGCTAGCTAGATAGCTAGATAGCTAG CTAGATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24278942	TTCCTTCC others(29): Show TTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01256.hp1 others(13): Show HG00099.hp1 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01975.hp2 HG01978.hp2 HG02257.hp1 HG02258.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0024 a0002c0008 a0004c0038 a0013c0019 a0014c0043	a0001c0001t0014 a0001c0001t0015 a0001c0002t0081 others(12): Show a0001c0001t0014 a0001c0001t0015 a0001c0002t0081 a0001c0003t0004 a0001c0003t0015 a0001c0003t0023 a0001c0004t0093 a0001c0005t0015 a0001c0009t0010 a0001c0013t0130 a0001c0024t0100 a0002c0008t0103 a0004c0038t0091 a0013c0019t0105 a0014c0043t0127	a0001c0001t0014g0250 a0001c0001t0015g0141 a0001c0002t0081g0061 others(13): Show a0001c0001t0014g0250 a0001c0001t0015g0141 a0001c0002t0081g0061 a0001c0003t0004g0189 a0001c0003t0015g0090 a0001c0003t0023g0217 a0001c0003t0023g0218 a0001c0004t0093g0055 a0001c0005t0015g0104 a0001c0009t0010g0288 a0001c0013t0130g0197 a0001c0024t0100g0350 a0002c0008t0103g0054 a0004c0038t0091g0168 a0013c0019t0105g0026 a0014c0043t0127g0010	16	354	0.0452	-36	c.216 others(55): Show c.2165-5189_2165-5154delTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCC	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA16_chr3_172884357_173146235	173088008	GTCTTTCT others(29): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18984.hp1 HG02074.hp1 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0128 a0003c0003t0001g0129	2	90	0.0222	-36	c.612 others(55): Show c.612+29076_612+29111delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10			chr3	TogoVar
SPATA22_chr17_3435019_3476819	3463927	CCCTCTCC others(29): Show CCCTCTCCCTCTCCCTCTCCCTCTGCCTCTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG01891.hp1 others(16): Show HG00597.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA18963.hp2 NA19091.hp1 NA19240.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0005 a0005c0013 others(1): Show a0002c0002 a0002c0005 a0005c0013 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0005c0013t0001 a0006c0012t0002	a0002c0002t0001g0018 a0002c0002t0001g0041 a0002c0002t0001g0042 others(13): Show a0002c0002t0001g0018 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0057 a0002c0002t0001g0086 a0002c0002t0001g0227 a0002c0002t0002g0050 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0005t0001g0263 a0005c0013t0001g0253 a0006c0012t0002g0277	19	418	0.0455	-36	c.173 others(53): Show c.173-1196_173-1161delCAGAGGGAGAGGCAGAGGGAGAGGGAGA GGGAGAGG	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8			chr17	TogoVar
SPATA46_chr1_162368203_162381854	162381258	TGGGATCC others(29): Show TGGGATCCTCGTGCTTCACTGGCACCGAGTTCCTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	476	0.0021	-36	c.-45 others(47): Show c.-4504_-4469delGATAGGAACTCGGTGCCAGTGAAGCACGAGGATC CC	SPATA46	ENSG00000171722.13	transcript	ENST00000367935.10	protein_coding		4405		chr1	TogoVar

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