Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAB7A_chr3_128721183_128819798	128773219	ATGAGGAG others(73): Show ATGAGGAGCCCCTCCGCCCGGCAGCCGCCCCATCTGAGAAGTGAGGAGCC CCTCCACCCAGCAGCCGCCCCATCTGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	314	0.0032	-80	c.-8- others(97): Show c.-8-22082_-8-22003delAGCAGCCGCCCCATCTGAGAAGTGAGGA GCCCCTCCGCCCGGCAGCCGCCCCATCTGAGAAGTGAGGAGCCCCTCCAC CC	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAP1GAP2_chr17_2791438_3042741	2828577	GGATGGGA others(73): Show GGATGGGAACACAGTTTCCCCGTCCGCCAGCAGGTGGCACTGTTGGCCCA GGACTGCCCGGGCATGGCTGGGAGAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	218	0.0046	-80	c.80+ others(97): Show c.80+28029_80+28108delATGGGAACACAGTTTCCCCGTCCGCCAG CAGGTGGCACTGTTGGCCCAGGACTGCCCGGGCATGGCTGGGAGAGCAGG TG	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	113999035	ACAAGTGT others(73): Show ACAAGTGTGACTGGGGAACGAGGCGACATGTGGGTCCGGGTCAAGCGTGA CCGGGGAACGAGGCCACACGTGGGCCCGGGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00639.hp2 others(35): Show HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18973.hp1 NA18975.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0005t0001 a0001c0009t0008 a0001c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0007g0034 a0001c0002t0001g0058 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0009t0008g0048 a0001c0011t0001g0042	38	67	0.5672	-80	c.193 others(97): Show c.1932+470_1932+549delACCCGGGCCCACGTGTGGCCTCGTTCCC CGGTCACGCTTGACCCGGACCCACATGTCGCCTCGTTCCCCAGTCACACT TG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	20/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114019750	CGTCAGGT others(73): Show CGTCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCCTCAGGTGGG TGGAGCCTGTGTCCGAGGCATTAGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(33): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18973.hp1 NA18975.hp1 NA19079.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0003t0003 a0001c0009t0008 a0001c0011t0001 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0032 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0007g0034 a0001c0003t0003g0022 a0001c0009t0008g0048 a0001c0011t0001g0042 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	36	67	0.5373	-80	c.786 others(95): Show c.786-911_786-832delAGGGCTGCTAATGCCTCGGACACAGGCTCC ACCCACCTGAGGGGGGCTAATGCCTCGGACACAGGCTCCACCCACCTGAC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	9/23			chr13	TogoVar
RBBP6_chr16_24534566_24577863	24574181	TGGCTGCC others(73): Show TGGCTGCCGGGCAGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGG GCGGAGGGGCTCCTCACTTCTCAGACGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03453.hp1 HG01099.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0110 a0001c0001t0001g0122	2	336	0.0060	-80	c.17 others(91): Show c.1737_*1816delGGCTGCCGGGCAGAGGGGCTCCTCACTTCTCAGA CGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGC	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1319		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24574378	CGGGGCGG others(73): Show CGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGCT GCCGGGCGGAGGGGCTTCTCACTTCTCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02523.hp1 HG02818.hp2 others(2): Show HG00544.hp2 HG02523.hp1 HG02818.hp2 NA18962.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0011t0003	a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0004t0001g0140 others(1): Show a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0004t0001g0140 a0001c0011t0003g0003	5	336	0.0149	-80	c.19 others(91): Show c.1934_*2013delGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTC TCAGATGGGGCGGCTGCCGGGCGGAGGGGCTTCTCACTTCTCAGAT	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1516		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24574498	CGGGGCGG others(73): Show CGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGCT GCCGGGCGGAGGGGCTTCTCACTTCTCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	336	0.0030	-80	c.20 others(91): Show c.2054_*2133delGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTC TCAGATGGGGCGGCTGCCGGGCGGAGGGGCTTCTCACTTCTCAGAT	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1636		chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79491025	CGGAGAGG others(73): Show CGGAGAGGAGAGGGGAGGGGAGGAAAGGAGAGGGGAGGGGAGGGGAGGGG AGGCGAGGGGAGGCGAGGGGAGGGGAGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0135 a0001c0004t0006g0135	1	154	0.0065	-80	c.-31 others(99): Show c.-319-8507_-319-8428delTCCCCTCCCCTCCCCTCGCCTCCCCT CGCCTCCCCTCCCCTCCCCTCCCCTCTCCTTTCCTCCCCTCCCCTCTCCT CTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM26_chr13_79313868_79411255	79372832	TATAAATA others(73): Show TATAAATATATTATATATTATATAAATATAAATATATTTATAATATTTTA TATGCTATATAAAATATATCTTATATATTAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01243.hp1 others(35): Show HG01069.hp1 HG01071.hp1 HG01243.hp1 HG01515.hp1 HG01891.hp1 HG01952.hp1 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0018 a0001c0003t0012 a0001c0003t0014	a0001c0002t0001g0014 a0001c0002t0001g0181 a0001c0002t0001g0182 others(30): Show a0001c0002t0001g0014 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0311 a0001c0002t0003g0001 a0001c0002t0003g0292 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0008g0013 a0001c0002t0008g0293 a0001c0002t0008g0294 a0001c0002t0008g0296 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0012g0179 a0001c0002t0018g0012 a0001c0003t0012g0177 a0001c0003t0012g0178 a0001c0003t0012g0180 a0001c0003t0012g0291 a0001c0003t0014g0281 a0001c0003t0014g0282 a0001c0003t0014g0283 a0001c0003t0014g0284	38	328	0.1159	-80	c.328 others(95): Show c.328-982_328-903delGTAATATATAAGATATATTTTATATAGCAT ATAAAATATTATAAATATATTTATATTTATATAATATATAATATATTTAT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RETREG1_chr5_16468053_16621997	16535624	GAAGTGGG others(73): Show GAAGTGGGAGCTGGGGTTCCTGTGTGCACGCTGCCTTCACAAAGTGGGAG CTGGGGTTCCTGTGTGCACGCTGCCTTCACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01258.hp1 NA18952.hp1 others(1): Show HG00408.hp1 HG01258.hp1 NA18952.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0002t0002g0079 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0002t0002g0079 a0001c0002t0002g0080	4	294	0.0136	-80	c.458 others(99): Show c.458+30059_458+30138delTGTGAAGGCAGCGTGCACACAGGAAC CCCAGCTCCCACTTTGTGAAGGCAGCGTGCACACAGGAACCCCAGCTCCC ACTT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
REV3L_chr6_111294033_111488218	111422600	ATATATAT others(73): Show ATATATATATATACACATATATATATATATACACATATATATATATATAC ATATATATATATACATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	288	0.0035	-80	c.140 others(97): Show c.140-6208_140-6129delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATGTGTATATATATA TA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RGPD2_chr2_87750960_87830796	87825483	CGCCGCCG others(73): Show CGCCGCCGCCCGGCCGAGGCCGAGGCCGAGGCCGCCGCCCGGCCGAGGCC GAGGCCGAGGCCGCCGCCCGGCCAGGTCGAG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	176	0.0057	-80	c.72+ others(92): Show c.72+95_72+174delCTCGACCTGGCCGGGCGGCGGCCTCGGCCTCGG CCTCGGCCGGGCGGCGGCCTCGGCCTCGGCCTCGGCCGGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS10_chr10_119494817_119547719	119519593	ATCTGTCC others(73): Show ATCTGTCCCCCAGCTCCTGTCTCCCTGTATCTGTCTCCCAGCTCCTGTCT CCCTGTCTGTCTCCCAGCTCCTGTCTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(50): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG01074.hp1 HG01109.hp1 HG01433.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19012.hp1 NA19055.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 others(45): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325	53	393	0.1349	-80	c.256 others(97): Show c.256-4021_256-3942delCAGGGAGACAGGAGCTGGGAGACAGACA GGGAGACAGGAGCTGGGAGACAGATACAGGGAGACAGGAGCTGGGGGACA GA	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding	3/4			chr10	TogoVar
RGS13_chr1_192631147_192665311	192641190	AAAAAAGA others(73): Show AAAAAAGAAAAAAGGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01358.hp1 others(10): Show HG01106.hp1 HG01261.hp2 HG01358.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02293.hp2 NA18992.hp1 NA19004.hp2 NA19011.hp2 NA19064.hp2 NA19070.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0199 a0002c0002t0004g0200 others(1): Show a0002c0002t0004g0004 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0004g0201	13	420	0.0310	-80	c.-5+ others(95): Show c.-5+2991_-4-3058delAAGAAAAAAGGAAAGAAAGAAAGAAAGAGA GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNASET2_chr6_166917113_166961550	166955251	ACACACGC others(73): Show ACACACGCACACACACACACGCGCACACACGACACACACGCACAGACGCG CACACACGACACACACGCACACACACGCACG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	346	0.0029	-80	c.86+ others(93): Show c.86+766_86+845delCGTGCGTGTGTGTGCGTGTGTGTCGTGTGTGC GCGTCTGTGCGTGTGTGTCGTGTGTGCGCGTGTGTGTGTGTGCGTGTG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNASET2_chr6_166917113_166961550	166955255	ACGCACAC others(73): Show ACGCACACACACACACGCGCACACACGACACACACGCACAGACGCGCACA CACGACACACACGCACACACACGCACGCACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01361.hp1 HG02080.hp1 others(14): Show HG00621.hp1 HG01361.hp1 HG02080.hp1 HG02145.hp2 HG03486.hp2 HG03942.hp2 HG04204.hp1 NA18948.hp1 NA18950.hp1 NA18964.hp1 NA18970.hp2 NA18979.hp1 NA18990.hp2 NA19009.hp1 NA19056.hp2 NA19058.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0005c0013	a0001c0001t0001 a0001c0001t0009 a0001c0001t0043 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0043 a0001c0001t0067 a0001c0001t0068 a0001c0001t0074 a0001c0002t0092 a0001c0003t0007 a0001c0003t0099 a0002c0004t0030 a0002c0004t0086 a0002c0004t0087 a0005c0013t0094	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 others(14): Show a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0009g0035 a0001c0001t0043g0031 a0001c0001t0067g0041 a0001c0001t0068g0036 a0001c0001t0074g0037 a0001c0002t0092g0044 a0001c0003t0007g0034 a0001c0003t0099g0032 a0002c0004t0030g0038 a0002c0004t0030g0040 a0002c0004t0086g0042 a0002c0004t0087g0039 a0005c0013t0094g0046	17	346	0.0491	-80	c.86+ others(93): Show c.86+762_86+841delCGTGCGTGCGTGTGTGTGCGTGTGTGTCGTGT GTGCGCGTCTGTGCGTGTGTGTCGTGTGTGCGCGTGTGTGTGTGTGCG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNF115_chr1_145733868_145829095	145763884	CCCTCCCC others(73): Show CCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCCCATGGTCTCCCTCTCCC TCTCTTGCCATGGTCTCCCTCTGATGCCGAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0034 a0001c0001t0006g0024 a0001c0001t0006g0034	2	272	0.0074	-80	c.428 others(97): Show c.428+7747_428+7826delCTCGGCATCAGAGGGAGACCATGGCAAG AGAGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGGGAGGGGGAGGGGGA GG	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNFT2_chr12_116733315_116858631	116841814	TATAAAAA others(73): Show TATAAAAATATATATATATAAATATATATATAAATATATATAAAAATATA TATATAAATATATATATAAATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0002t0002 a0001c0002t0008	a0001c0001t0002g0032 a0001c0001t0008g0028 a0001c0001t0008g0029 others(5): Show a0001c0001t0002g0032 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0011g0033 a0001c0002t0002g0030 a0001c0002t0008g0140	8	268	0.0299	-80	c.120 others(99): Show c.1200+5536_1200+5615delAAAATATATATATATAAATATATATA TAAATATATATAAAAATATATATATAAATATATATATAAATATATATAAA AATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO2_chr3_77035099_77654964	77317772	AGGGGCGC others(73): Show AGGGGCGCTGCTGGGGGGCTGCTAGGGGGGCTGCTGGGGGGGCTGCTGGG GGGCTGCTGGGGGGCTGCTAGGGGGCTGCTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0085 a0001c0001t0017g0085	1	160	0.0063	-80	c.389 others(101): Show c.389-159637_389-159558delCGCTGCTGGGGGGCTGCTAGGGGG GCTGCTGGGGGGGCTGCTGGGGGGCTGCTGGGGGGCTGCTAGGGGGCTGC TGGGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60597537	ACACACAC others(73): Show ACACACACACACAACATATATATATATATATATATATACACATATATATA TATATATACACATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	118	0.0085	-80	c.197 others(99): Show c.197-65766_197-65687delATATATATATATATATATATGTGTAT ATATATATATATATGTGTATATATATATATATATATATATGTTGTGTGTG TGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPF2_chr6_110977038_111033263	111017389	AGGCGGAG others(73): Show AGGCGGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGATGGGGGG GCTCCTCACTTCTCAGACGGGGCGGCTGCCG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18964.hp1 NA18972.hp2 others(1): Show NA18950.hp1 NA18964.hp1 NA18972.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229	4	360	0.0111	-80	c.596 others(97): Show c.596+1541_596+1620delACGCTCCTCACTTCCCAGACGGGGCGGC TGCCGGATGGGGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGG AG	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	288705	TCTCTCTC others(73): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19074.hp2 HG02738.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0002 a0001c0001t0012 a0001c0002t0002	a0001c0001t0012g0006 a0001c0002t0002g0038 a0001c0001t0012g0006 a0001c0002t0002g0038	2	133	0.0150	-80	c.352 others(97): Show c.352-6931_352-6852delGGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	307231	TCCCACGG others(73): Show TCCCACGGCAGGTCCTCCCCACGGCAGGTCCATCCCACGGCAGGTCCATC CCGCGGCAGGTCCATCCCACGGCAGGTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG01884.hp1 others(11): Show HG01192.hp2 HG01496.hp2 HG01884.hp1 HG02071.hp2 HG02165.hp2 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG03540.hp2 NA18522.hp2 NA18999.hp2 NA19004.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0003t0030 a0001c0003t0036 a0002c0011t0001	a0001c0001t0001g0104 a0001c0001t0002g0031 a0001c0001t0005g0132 others(11): Show a0001c0001t0001g0104 a0001c0001t0002g0031 a0001c0001t0005g0132 a0001c0001t0007g0097 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0014g0023 a0001c0001t0014g0106 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0002t0001g0123 a0001c0003t0030g0122 a0001c0003t0036g0064 a0002c0011t0001g0016	14	133	0.1053	-80	c.351 others(99): Show c.351+12109_351+12188delGAGGACCTGCCGTGGGATGGACCTGC CGCGGGATGGACCTGCCGTGGGATGGACCTGCCGTGGGGAGGACCTGCCG TGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL11_chr1_23686806_23701835	23688911	CCAGCCGC others(73): Show CCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCAGCATCCGCCC CGTCTGCGAAGTGAGGAGCCCCTCCGCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	388	0.0026	-80	c.-29 others(91): Show c.-2912_-2833delCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCC GCCCAGCATCCGCCCCGTCTGCGAAGTGAGGAGCCCCTCCGCCCGG	RPL11	ENSG00000142676.14	transcript	ENST00000643754.2	protein_coding		2894		chr1	TogoVar
RSPRY1_chr16_57181329_57245469	57201124	AGTGGCTG others(73): Show AGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGTGTGGCTGCC AGGTGGAGGGGCTCCTCACTTCTCAGACGGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp1 HG06807.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0286 a0002c0002t0012g0288 a0002c0002t0012g0286 a0002c0002t0012g0288	2	358	0.0056	-80	c.-15 others(99): Show c.-155-3300_-155-3221delTGTGGCTGCCGGGCGGAGGGGCTCCT CACTTCTCAGACGGTGTGGCTGCCAGGTGGAGGGGCTCCTCACTTCTCAG ACGG	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSU1_chr10_16585611_16822424	16722831	CACATATA others(73): Show CACATATATGTATATATACACACATATATACATATATGTATATATACACA CATATACATATATGTATATATACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18952.hp1 HG04184.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0052 a0001c0002t0001g0101 a0001c0001t0002g0052 a0001c0002t0001g0101	2	190	0.0105	-80	c.599 others(99): Show c.599-27756_599-27677delATATGTGTGTATATATACATATATGT ATATGTGTGTATATATACATATATGTATATATGTGTGTATATATACATAT ATGT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RUNX1_chr21_34782801_35054302	34993712	CACACAGG others(73): Show CACACAGGCACACACACACAGACACACAGAGACACACACACAGACACACA CAGGCGCACACACACAGACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	170	0.0059	-80	c.58+ others(97): Show c.58+55050_58+55129delCTGTGTGTGTGTGTCTGTGTGTGTGCGC CTGTGTGTGTCTGTGTGTGTGTCTCTGTGTGTCTGTGTGTGTGTGCCTGT GT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SARDH_chr9_133658560_133743352	133669132	TTCCCTCT others(73): Show TTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTT CCCTCTCCCTCACCCTCCATCTCCCTCACCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0261 a0003c0026t0001g0261	1	262	0.0038	-80	c.249 others(99): Show c.2495+1372_2495+1451delGGGTGAGGGAGATGGAGGGTGAGGGA GAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGA GGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAXO1_chr9_18922650_19038209	19000276	GCCTCTGC others(73): Show GCCTCTGCCCAGCCGCCCCACCCTCTGGGAAGTGAGGAGCGCCTCTGCCC AGCCACCACCCTGTCTGGGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04228.hp2 HG02155.hp1 HG04228.hp2	a0009 a0021 a0009 a0021	a0009c0010 a0021c0018 a0009c0010 a0021c0018	a0009c0010t0005 a0021c0018t0003 a0009c0010t0005 a0021c0018t0003	a0009c0010t0005g0151 a0021c0018t0003g0147 a0009c0010t0005g0151 a0021c0018t0003g0147	2	364	0.0055	-80	c.38+ others(97): Show c.38+32515_38+32594delGGCTCCTCACTTCCCAGACAGGGTGGTG GCTGGGCAGAGGCGCTCCTCACTTCCCAGAGGGTGGGGCGGCTGGGCAGA GG	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	1/3			chr9	TogoVar
SCART1_chr10_133448945_133474760	133471348	CATGAGCT others(73): Show CATGAGCTCCCCTGGGGTGGTCCTTTCCAACTGTGGCCCTGGTACTGAGG GGTCCTCCCCACAGCAGGAACACAGGAAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0003 a0002c0002t0010g0003	1	434	0.0023	-80	c.33 others(91): Show c.3381_*3460delATGAGCTCCCCTGGGGTGGTCCTTTCCAACTGTG GCCCTGGTACTGAGGGGTCCTCCCCACAGCAGGAACACAGGAAGAA	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		1589		chr10	TogoVar
SCGB1C2_chr17_132569_144067	136295	ACCAACCC others(73): Show ACCAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAAC CCTAACCCTAACCCTAACCCTAACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02717.hp2 others(2): Show HG02258.hp1 HG02559.hp2 HG02717.hp2 HG03098.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	5	402	0.0124	-80	c.-12 others(91): Show c.-1295_-1216delCCAACCCTAACCCTAACCCTAACCCTAACCCCTA ACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCTAAC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1273		chr17	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(73): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	306	0.0033	-80	c.-8- others(97): Show c.-8-15481_-8-15402delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDC4_chr20_45320288_45353424	45329177	ACACCAGC others(73): Show ACACCAGCTAACAATATAACTTTTCACATGAGGCTCTTAGGCTTGTATAA TTCTCAAATGGAAGATTAAAGAGATAACCTG	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	418	0.0024	-80	c.445 others(97): Show c.445+1109_445+1188delCAGGTTATCTCTTTAATCTTCCATTTGA GAATTATACAAGCCTAAGAGCCTCATGTGAAAAGTTATATTGTTAGCTGG TG	SDC4	ENSG00000124145.6	transcript	ENST00000372733.3	protein_coding	4/4			chr20	TogoVar
SDHA_chr5_213320_262082	262002	CAGCATTA others(73): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	266	0.0038	-80	c.55 others(91): Show c.5583_*5662delAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4921		chr5	TogoVar
SDK1_chr7_3296252_4274000	3806279	CTAGGATG others(73): Show CTAGGATGTGGATGTCCACATTAGGATGTGGATGTCCACATTAGGATGTG GATGTCCACATTAGGATGTGGATGTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02622.hp2 others(5): Show HG01891.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02976.hp2 HG03041.hp1 HG03453.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0021 a0025	a0001c0014 a0001c0087 a0002c0013 others(4): Show a0001c0014 a0001c0087 a0002c0013 a0005c0057 a0005c0065 a0021c0068 a0025c0081	a0001c0014t0018 a0001c0087t0009 a0002c0013t0064 others(4): Show a0001c0014t0018 a0001c0087t0009 a0002c0013t0064 a0005c0057t0013 a0005c0065t0037 a0021c0068t0014 a0025c0081t0008	a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0087t0009g0054 others(5): Show a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0087t0009g0054 a0002c0013t0064g0026 a0005c0057t0013g0045 a0005c0065t0037g0065 a0021c0068t0014g0014 a0025c0081t0008g0075	8	116	0.0690	-80	c.714 others(99): Show c.714-15145_714-15066delTGTGGATGTCCACATTAGGATGTGGA TGTCCACATTAGGATGTGGATGTCCACATTAGGATGTGGATGTCCACATT AGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SENP1_chr12_48037897_48111079	48056526	CATATATA others(73): Show CATATATAAATATATTATTTAATATATTACATATATAAATATATTATTTA ATATATTACATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01243.hp2 others(19): Show HG00423.hp2 HG00741.hp2 HG01243.hp2 HG01496.hp1 HG02015.hp2 HG02647.hp2 HG02886.hp2 NA18522.hp1 NA18940.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18969.hp1 NA18987.hp2 NA19007.hp1 NA19010.hp2 NA19057.hp2 NA19067.hp2 NA19068.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0003t0008	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0045 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0368 a0001c0001t0005g0284 a0001c0001t0009g0304 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0003t0008g0294	22	394	0.0558	-80	c.140 others(99): Show c.1407+7104_1407+7183delATTAAATAATATATTTATATATGTAA TATATTAAATAATATATTTATATATGTAATATATTAAATAATATATTTAT ATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056555	CATATATA others(73): Show CATATATAAATATATTATTTAATATATTACATATATAAATATATTATTTA ATATATTACATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0344 a0001c0001t0016g0344	1	394	0.0025	-80	c.140 others(99): Show c.1407+7075_1407+7154delATTAAATAATATATTTATATATGTAA TATATTAAATAATATATTTATATATGTAATATATTAAATAATATATTTAT ATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SESTD1_chr2_179096678_179269832	179185785	GTATACAA others(73): Show GTATACAATATATAATATAGCATATACAATATAGTATATTATATATAATA TATAATATAGCATGTACAATATAGTATGTTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG02300.hp1 others(1): Show HG00323.hp1 HG01167.hp2 HG02300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 others(1): Show a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 a0001c0001t0015g0138	4	274	0.0146	-80	c.56- others(95): Show c.56-2677_56-2598delTAACATACTATATTGTACATGCTATATTAT ATATTATATATAATATACTATATTGTATATGCTATATTATATATTGTATA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SGTA_chr19_2749715_2788273	2773552	CGCGGCCA others(73): Show CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCAC ACGGCAGGGACTCCGAGGGCAGAGATGGGTG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	396	0.0025	-80	c.-23 others(97): Show c.-23-4541_-23-4462delCACCCATCTCTGCCCTCGGAGTCCCTGC CGTGTGGCCGTGTCACCCACCTCTGCCCTCGGTGTCCCTGCCGTGTGGCC GC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH3BP5L_chr1_248805446_248830915	248830339	CGCCGCCC others(73): Show CGCCGCCCCGTCTGGGAAGTGAGGAGCCCCTCTGCCCAGCCGCCACCCCG TCTGGGAGGTGGGGGGCCCCTCTGCCCGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0018 a0001c0001t0007g0175 a0001c0001t0020g0176 a0001c0001t0007g0018 a0001c0001t0007g0175 a0001c0001t0020g0176	6	412	0.0146	-80	c.-50 others(91): Show c.-5016_-4937delTGCCGGGCAGAGGGGCCCCCCACCTCCCAGACGG GGTGGCGGCTGGGCAGAGGGGCTCCTCACTTCCCAGACGGGGCGGC	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding		4425		chr1	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	TAGCAGGG others(73): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG01192.hp1 others(14): Show HG00323.hp2 HG00544.hp1 HG01192.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG03471.hp1 HG03942.hp1 HG04228.hp1 NA18612.hp2 NA18949.hp2 NA18989.hp1 NA19003.hp2 NA19055.hp1 NA19064.hp1 NA19079.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0035 a0001c0001t0072 a0001c0001t0075 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0002c0006t0004	a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0186 others(14): Show a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0003g0109 a0001c0001t0004g0115 a0001c0001t0006g0076 a0001c0001t0008g0070 a0001c0001t0035g0075 a0001c0001t0072g0071 a0001c0001t0075g0262 a0001c0002t0001g0143 a0001c0002t0002g0169 a0001c0002t0002g0185 a0001c0002t0002g0292 a0001c0002t0005g0077 a0001c0002t0008g0363 a0002c0006t0004g0187	17	380	0.0447	-80	c.-32 others(97): Show c.-32-1716_-32-1637delGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302843	GGTGAGGA others(73): Show GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18947.hp1 HG00423.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0277 a0001c0001t0002g0266 a0001c0001t0001g0277 a0001c0001t0002g0266	2	380	0.0053	-80	c.-32 others(97): Show c.-32-1946_-32-1867delTGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC AC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302867	GCCCTGGG others(73): Show GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCAGTGAGGAGGCAGCAGGGGCAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG02109.hp1 others(9): Show HG00544.hp2 HG02027.hp2 HG02109.hp1 HG02523.hp1 HG02622.hp2 HG02723.hp1 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA18950.hp1 NA18979.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0030 a0001c0001t0052 a0001c0001t0097 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0237 a0001c0001t0003g0276 a0001c0001t0009g0316 others(8): Show a0001c0001t0001g0237 a0001c0001t0003g0276 a0001c0001t0009g0316 a0001c0001t0011g0130 a0001c0001t0011g0297 a0001c0001t0030g0117 a0001c0001t0030g0245 a0001c0001t0052g0322 a0001c0001t0097g0331 a0001c0002t0001g0315 a0001c0002t0006g0007	12	380	0.0316	-80	c.-32 others(97): Show c.-32-1970_-32-1891delTCTTTGCCCCTGCTGCCTCCTCACTGCA CCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAG GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(73): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01081.hp1 others(14): Show HG00642.hp1 HG00735.hp1 HG01081.hp1 HG02135.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG03490.hp1 NA18747.hp1 NA18955.hp1 NA18959.hp1 NA18965.hp1 NA18988.hp1 NA19004.hp1 NA19030.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0017 a0002 a0008 a0017	a0002c0002 a0002c0003 a0008c0008 others(1): Show a0002c0002 a0002c0003 a0008c0008 a0017c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0001 a0002c0003t0025 a0008c0008t0007 a0017c0012t0045	a0002c0002t0001g0009 a0002c0002t0001g0065 a0002c0002t0001g0093 others(14): Show a0002c0002t0001g0009 a0002c0002t0001g0065 a0002c0002t0001g0093 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0004g0035 a0002c0002t0004g0133 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0087 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0163 a0002c0003t0025g0130 a0008c0008t0007g0058 a0008c0008t0007g0059 a0017c0012t0045g0003	17	175	0.0971	-80	c.295 others(99): Show c.2957+9257_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	412505	CCATGTCT others(73): Show CCATGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGGGGGGGGTGCCCAGCTCTGAA	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01891.hp1 HG01517.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0134 a0001c0001t0001g0092 a0001c0001t0001g0134	2	242	0.0083	-80	c.-15 others(99): Show c.-154+2238_-154+2317delTTCAGAGCTGGGCACCCCCCCCCGAC TGTATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGA CATG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232415948	GAGTCAGT others(73): Show GAGTCAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCA GAACACGGGCACCACTGTCCCTCCCAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp1 others(33): Show HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG01081.hp1 HG01123.hp2 HG01433.hp1 HG01496.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02486.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 NA18612.hp2 NA18939.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18985.hp2 NA18989.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19057.hp2 NA19084.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0016 a0021 a0023	a0001c0001 a0001c0005 a0002c0007 others(10): Show a0001c0001 a0001c0005 a0002c0007 a0003c0004 a0003c0013 a0003c0015 a0003c0065 a0007c0020 a0007c0034 a0007c0037 a0016c0062 a0021c0064 a0023c0066	a0001c0001t0003 a0001c0005t0022 a0002c0007t0001 others(14): Show a0001c0001t0003 a0001c0005t0022 a0002c0007t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0013t0001 a0003c0013t0002 a0003c0015t0001 a0003c0065t0001 a0007c0020t0002 a0007c0020t0003 a0007c0034t0003 a0007c0037t0003 a0016c0062t0001 a0021c0064t0003 a0023c0066t0003	a0001c0001t0003g0259 a0001c0005t0022g0288 a0002c0007t0001g0192 others(33): Show a0001c0001t0003g0259 a0001c0005t0022g0288 a0002c0007t0001g0192 a0003c0004t0001g0114 a0003c0004t0001g0120 a0003c0004t0001g0131 a0003c0004t0001g0146 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0187 a0003c0004t0001g0201 a0003c0004t0002g0034 a0003c0004t0002g0076 a0003c0004t0003g0253 a0003c0004t0003g0254 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0271 a0003c0013t0001g0130 a0003c0013t0001g0190 a0003c0013t0002g0026 a0003c0013t0002g0037 a0003c0013t0002g0058 a0003c0015t0001g0110 a0003c0015t0001g0142 a0003c0015t0001g0147 a0003c0015t0001g0222 a0003c0015t0001g0225 a0003c0065t0001g0203 a0007c0020t0002g0075 a0007c0020t0003g0238 a0007c0034t0003g0236 a0007c0037t0003g0256 a0016c0062t0001g0217 a0021c0064t0003g0263 a0023c0066t0003g0237	36	292	0.1233	-80	c.463 others(97): Show c.4631-403_4631-324delGACTCTGGGAGGGACAGTGGTGCCCGTG TTCTGACTGACTCTGGGAGGGACAGTGGTGCCCGTGTTCTGACTGACTGA CT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1099416	TGGGGCAC others(73): Show TGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGG ACGGCAGGGCCCGACCCAGTCCACCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02897.hp1 HG03453.hp2 others(6): Show HG02486.hp2 HG02897.hp1 HG03453.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0010 others(1): Show a0001c0003 a0001c0007 a0001c0010 a0001c0017	a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 others(3): Show a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 a0001c0007t0006 a0001c0010t0005 a0001c0017t0004	a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 others(6): Show a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 a0001c0007t0006g0023 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026 a0001c0017t0004g0020 a0001c0017t0004g0021	9	118	0.0763	-80	c.125 others(97): Show c.125-5248_125-5169delGGAGGAGGTGGACTGGGTCGGGCCCTGC CGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCC CC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC17A9_chr20_62947709_62974585	62960990	GGGTGGGC others(73): Show GGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCAGGGTGGGCCT ATCAGCTGGCTGGAGGGCGGCTTGTCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(118): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18940.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0002c0004 a0002c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0002t0002 a0001c0002t0024 a0001c0002t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0015 a0001c0003t0018 a0001c0003t0026 a0001c0008t0002 a0001c0008t0010 a0001c0010t0002 a0002c0004t0003 a0002c0013t0003	a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0123 others(64): Show a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0160 a0001c0001t0004g0023 a0001c0001t0004g0053 a0001c0001t0004g0076 a0001c0001t0004g0144 a0001c0001t0004g0159 a0001c0001t0004g0168 a0001c0001t0004g0209 a0001c0001t0029g0086 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0083 a0001c0002t0002g0104 a0001c0002t0002g0140 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0185 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0205 a0001c0002t0002g0211 a0001c0002t0024g0007 a0001c0002t0025g0003 a0001c0003t0001g0018 a0001c0003t0001g0028 a0001c0003t0001g0190 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0025 a0001c0003t0002g0059 a0001c0003t0002g0147 a0001c0003t0002g0173 a0001c0003t0006g0186 a0001c0003t0006g0187 a0001c0003t0010g0161 a0001c0003t0010g0162 a0001c0003t0015g0163 a0001c0003t0018g0025 a0001c0003t0018g0164 a0001c0003t0026g0170 a0001c0008t0002g0194 a0001c0008t0010g0040 a0001c0008t0010g0088 a0001c0010t0002g0082 a0002c0004t0003g0176 a0002c0013t0003g0141	121	432	0.2801	-80	c.497 others(95): Show c.497+467_497+546delCGGTGGGCCTATCAGCTGGCTGGAGGGCGG CTTGTCCTCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCA	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC28A1_chr15_84879662_84950798	84889661	TTTCCTTC others(73): Show TTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0272 a0002c0015t0001g0272	1	396	0.0025	-80	c.186 others(95): Show c.186-766_186-687delTTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC39A14_chr8_22362278_22427736	22396426	GAGAGAGA others(73): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0053 a0001c0007t0006g0053	1	324	0.0031	-80	c.-15 others(97): Show c.-15-8269_-15-8190delAGAGAGAGAGAGAGAGAGAGAGGGGGGG GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar

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