Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0032	1	38	0.0263	39	c.349 others(58): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80957045	A A	AGCCTGGA others(32): Show AGCCTGGACTTGGGAGTTCCAGCTCAGAATTGTCGCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0062 a0001c0011t0062	a0001c0011t0062g0114 a0001c0011t0062g0114	1	194	0.0052	39	c.337 others(56): Show c.3371-546_3371-545insGCCCCGGCCTGGACTTGGGAGTTCCAGC TCAGAATTGTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80957191	C C	CTGTCACC others(32): Show CTGTCACCCCGGCCTGGACTTGGGAGTTCCAGCTTAGAAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0037 a0001c0024t0037	a0001c0024t0037g0095 a0001c0024t0037g0095	1	194	0.0052	39	c.337 others(56): Show c.3371-394_3371-356dupTTGTCACCCCGGCCTGGACTTGGGAGTT CCAGCTTAGAA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAS_chr19_49630292_49645143	49643584	A A	ACCTAGGA others(32): Show ACCTAGGAGATGGGAGATAGAGGGTTAGGGAGAGGATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	39	c.-34 others(50): Show c.-3487_-3486insAATATCCTCTCCCTAACCCTCTATCTCCCATCTC CTAGG	RRAS	ENSG00000126458.4	transcript	ENST00000246792.4	protein_coding		3442		chr19	TogoVar
RRP12_chr10_97351701_97406340	97393247	T T	TCCCCCCC others(32): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0087 a0001c0005t0001g0087	1	398	0.0025	39	c.530 others(54): Show c.530+436_530+437insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGG	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	4/33			chr10	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	101	0.0099	39	c.587 others(58): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0273 a0001c0001t0013g0273	1	74	0.0135	39	c.290 others(58): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTATATA others(32): Show TTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	78	0.0128	39	c.321 others(54): Show c.321-509_321-508insTATATATATATATATATATATATATATATA TATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN4IP1_chr6_106565771_106634498	106589263	A A	AAGAAGGA others(32): Show AAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	394	0.0025	39	c.807 others(56): Show c.807-1402_807-1401insCCTCCTCCTTCTCCTCCTCCTCCTTCTC CTCCTCCTTCT	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241873427	C C	CCCCCCGC others(32): Show CCCCCCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	363	0.0028	39	c.17 others(48): Show c.175_*176insTCACCTCCGACGCCCCGCCCCCGCCTCCGAGACCCC GCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	176	INFO_REALIGN_3_PRIME	chr2	TogoVar
RUBCN_chr3_197663867_197741904	197667414	G G	GCAAGCAC others(32): Show GCAAGCACCTTCCCCAGGCCAGGCCAGGCCTCAACACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp2 others(26): Show HG00408.hp2 HG00438.hp1 HG00558.hp2 HG01361.hp1 HG01884.hp1 HG01975.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp2 NA18612.hp2 NA18943.hp2 NA18953.hp2 NA21309.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0011	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0007c0009 a0011c0013	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0023 a0001c0002t0044 a0003c0004t0006 a0003c0004t0030 a0003c0004t0041 a0003c0004t0042 a0007c0009t0002 a0011c0013t0002	a0001c0001t0001g0040 a0001c0001t0004g0058 a0001c0002t0002g0020 others(26): Show a0001c0001t0001g0040 a0001c0001t0004g0058 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0075 a0001c0002t0023g0021 a0001c0002t0044g0023 a0003c0004t0006g0163 a0003c0004t0006g0165 a0003c0004t0006g0166 a0003c0004t0006g0168 a0003c0004t0006g0169 a0003c0004t0006g0172 a0003c0004t0030g0173 a0003c0004t0041g0162 a0003c0004t0042g0167 a0007c0009t0002g0031 a0007c0009t0002g0032 a0011c0013t0002g0033	29	180	0.1611	39	c.76 others(50): Show c.7603_*7604insGGGGTGTTGAGGCCTGGCCTGGCCTGGGGAAGGT GCTTG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding		1452		chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626335	C C	CATATATA others(32): Show CATATATATTGTCATATATATGTGTCATATATATTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02970.hp2 others(2): Show HG02572.hp2 HG02622.hp2 HG02970.hp2 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0070 a0001c0001t0012 a0001c0001t0018 a0001c0001t0070	a0001c0001t0012g0174 a0001c0001t0012g0176 a0001c0001t0018g0171 others(2): Show a0001c0001t0012g0174 a0001c0001t0012g0176 a0001c0001t0018g0171 a0001c0001t0018g0175 a0001c0001t0070g0014	5	155	0.0323	39	c.-24 others(50): Show c.-2489_-2488insATATATATTGTCATATATATGTGTCATATATATT GTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2062		chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29011101	A A	AGTGAGGA others(32): Show AGTGAGGAGCGTCTCTGCCCGGCCACCCATCGTCTGGGAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	436	0.0023	39	c.68- others(54): Show c.68-2519_68-2481dupATCCCAGACGATGGGTGGCCGGGCAGAGAC GCTCCTCAC	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	5	0.2000	39	c.535 others(56): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXRA_chr9_134321455_134445585	134433484	A A	AGGCCAAG others(32): Show AGGCCAAGGTGGCATTCACAGGGGGTCCCTGGGCCTTGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02258.hp2 others(6): Show HG00735.hp1 HG01243.hp1 HG02258.hp2 HG02451.hp1 HG02717.hp2 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0041 a0001c0001t0056	a0001c0001t0003g0080 a0001c0001t0003g0166 a0001c0001t0007g0119 others(6): Show a0001c0001t0003g0080 a0001c0001t0003g0166 a0001c0001t0007g0119 a0001c0001t0007g0203 a0001c0001t0008g0037 a0001c0001t0008g0087 a0001c0001t0008g0141 a0001c0001t0041g0139 a0001c0001t0056g0143	9	228	0.0395	39	c.113 others(56): Show c.1136-579_1136-541dupGGGCCAAGGTGGCATTCACAGGGGGTCC CTGGGCCTTGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYK_chr3_134152133_134255859	134199947	C C	CTGCCTAG others(32): Show CTGCCTAGTTAAAGGATTGTAAATGCACCAATCAGCGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0012 a0013	a0001c0001 a0001c0016 a0002c0002 others(9): Show a0001c0001 a0001c0016 a0002c0002 a0002c0003 a0002c0013 a0003c0004 a0004c0005 a0005c0006 a0010c0009 a0011c0014 a0012c0015 a0013c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0016t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0008 a0002c0003t0001 a0002c0013t0001 a0003c0004t0005 a0004c0005t0001 a0005c0006t0001 a0010c0009t0001 a0011c0014t0001 a0012c0015t0001 a0013c0011t0003	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(260): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0002g0204 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0328 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0016t0001g0238 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0006g0281 a0002c0002t0006g0286 a0002c0002t0008g0294 a0002c0003t0001g0029 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0013t0001g0298 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0014 a0004c0005t0001g0325 a0004c0005t0001g0326 a0004c0005t0001g0327 a0005c0006t0001g0062 a0005c0006t0001g0063 a0010c0009t0001g0015 a0011c0014t0001g0257 a0012c0015t0001g0316 a0013c0011t0003g0353	270	374	0.7219	39	c.788 others(56): Show c.788+2782_788+2783insCAGCGCTGATTGGTGCATTTACAATCCT TTAACTAGGCA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	6/14			chr3	TogoVar
RYR2_chr1_237037184_237838988	237089456	T T	TAAGAAAT others(32): Show TAAGAAATAGTGAGTCAGAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0008 a0001c0029t0008	a0001c0029t0008g0089 a0001c0029t0008g0089	1	100	0.0100	39	c.48+ others(56): Show c.48+46904_48+46905insAAAAAAAAAAAAAAAAAAAAAAAAGAAA TAGTGAGTCAG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR3_chr9_88986468_89010155	89006625	A A	AGTTATTA others(32): Show AGTTATTATCTTATTATTACACATTAAATTTACATGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	400	0.0025	39	c.42 others(50): Show c.4288_*4289insGTTATTATCTTATTATTACACATTAAATTTACAT GGAGT	S1PR3	ENSG00000213694.7	transcript	ENST00000358157.3	protein_coding		1471		chr9	TogoVar
S1PR4_chr19_3173769_3185332	3174650	G G	GCCCTCAT others(32): Show GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01891.hp1 others(16): Show HG00423.hp1 HG00597.hp1 HG01891.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp2 NA18943.hp2 NA18955.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	19	413	0.0460	39	c.-41 others(50): Show c.-4143_-4142insCCCTCATGGGACGCCTGTGTTCTCATGGGACGCC TGTGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4118		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177664	A A	AGGCTCTC others(32): Show AGGCTCTCTGGGCCTCAGTTTCCCCTTCTGTAACGCATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG01516.hp1 others(7): Show HG00544.hp2 HG01192.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG04184.hp1 NA18945.hp2 NA18957.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0004 a0001c0019t0001 a0001c0001t0001 a0001c0001t0004 a0001c0019t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0019t0001g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0019t0001g0000	10	338	0.0296	39	c.-11 others(50): Show c.-1129_-1128insGGCTCTCTGGGCCTCAGTTTCCCCTTCTGTAACG CATCG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1104		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177856	A A	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02572.hp1 others(1): Show HG02055.hp1 HG02451.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	330	0.0121	39	c.-93 others(48): Show c.-937_-936insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		912		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177895	C C	CTCGGGCT others(32): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01516.hp1 HG01517.hp1 others(3): Show HG00544.hp2 HG01516.hp1 HG01517.hp1 HG02083.hp2 NA18955.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	273	0.0220	39	c.-89 others(48): Show c.-898_-897insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		873		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177975	C C	CGGGCTCT others(32): Show CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0000 a0007c0009t0001g0000	1	413	0.0024	39	c.-81 others(48): Show c.-818_-817insGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGC CTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		793		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178012	A A	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG04184.hp1 HG03453.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	2	271	0.0074	39	c.-78 others(48): Show c.-781_-780insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		756		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178090	C C	CTCGGGCT others(32): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01346.hp1 HG01516.hp1 others(2): Show HG00544.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	331	0.0151	39	c.-70 others(48): Show c.-703_-702insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		678		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178168	A A	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA19088.hp2 HG01993.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	304	0.0066	39	c.-62 others(48): Show c.-625_-624insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		600		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178182	G G	GCCTCAGT others(32): Show GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA18945.hp2 NA18955.hp1 others(3): Show HG04115.hp1 NA18945.hp2 NA18955.hp1 NA18957.hp2 NA18975.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0000 a0001c0019t0001g0000 a0001c0001t0001g0000 a0001c0019t0001g0000	6	313	0.0192	39	c.-61 others(48): Show c.-611_-610insCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		586		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178246	A A	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG03669.hp2 HG00544.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	223	0.0090	39	c.-54 others(48): Show c.-547_-546insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		522		chr19	TogoVar
SAMD11_chr1_918923_949574	936234	T T	TGGTCCCG others(32): Show TGGTCCCGCCTCCTAGGGCTCCTGGACGGAAGGGGTCCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18948.hp2 NA18953.hp1 others(3): Show NA18942.hp1 NA18948.hp2 NA18953.hp1 NA18956.hp1 NA18967.hp1 NA19064.hp2	a0001 a0001	a0001c0009 a0001c0021 a0001c0009 a0001c0021	a0001c0009t0010 a0001c0021t0002 a0001c0009t0010 a0001c0021t0002	a0001c0009t0010g0305 a0001c0009t0010g0306 a0001c0009t0010g0307 others(3): Show a0001c0009t0010g0305 a0001c0009t0010g0306 a0001c0009t0010g0307 a0001c0009t0010g0308 a0001c0009t0010g0309 a0001c0021t0002g0336	6	373	0.0161	39	c.967 others(54): Show c.967+368_967+406dupAGGGGTCCCCGGTCCCGCCTCCTAGGGCTC CTGGACGGA	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	936234	T T	TGGTCCCG others(32): Show TGGTCCCGCCTCCTAGGGGCTCCTGACGGAAGGGGTCCCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0304 a0001c0009t0010g0304	1	368	0.0027	39	c.967 others(54): Show c.967+355_967+356insGCTCCTGACGGAAGGGGTCCCCGGTCCCGC CTCCTAGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMHD1_chr20_36885229_36956708	36890419	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 NA19063.hp1 HG03209.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0017 a0001c0001t0020	a0001c0001t0017g0154 a0001c0001t0020g0249 a0001c0001t0017g0154 a0001c0001t0020g0249	2	335	0.0060	39	c.25 others(50): Show c.2512_*2513insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2512		chr20	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0140 a0001c0001t0009g0140	1	4	0.2500	39	c.-20 others(48): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	13	0.0769	39	c.995 others(54): Show c.995-649_995-648insAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668679	C C	CCCCTCGC others(32): Show CCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0009 a0009	a0009c0068 a0009c0068	a0009c0068t0001 a0009c0068t0001	a0009c0068t0001g0059 a0009c0068t0001g0059	1	220	0.0045	39	c.249 others(58): Show c.2496-1810_2496-1809insAGAGGGAGGGTGAGGGTGAGGGGAGA GGGAGGGCGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(32): Show CTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	118	0.0085	39	c.386 others(56): Show c.386+8676_386+8677insCTTTTTTTTTTTTCTTTTTTTTTTTTTT TTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(32): Show ATATATATATATATAATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02717.hp1 others(10): Show HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0026	13	117	0.1111	39	c.-28 others(50): Show c.-2850_-2849insTATATATATATATAATATATATATAATATATATA TATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(32): Show ATATATATATTATATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01106.hp1 others(44): Show HG00408.hp2 HG00423.hp1 HG01106.hp1 HG01168.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02165.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18943.hp1 NA18949.hp1 NA18951.hp1 NA18956.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19007.hp1 NA19056.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0008g0002	47	151	0.3113	39	c.-28 others(50): Show c.-2850_-2849insTATATATATTATATATATATATATAATATATATA TATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SBNO1_chr12_123284109_123369847	123340052	T T	TCCAAATT others(32): Show TCCAAATTCCTAACCTTTATTGTGAGTAGCACATTGCATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0220 a0001c0002t0091g0220	1	258	0.0039	39	c.651 others(54): Show c.651+897_651+935dupTATGCAATGTGCTACTCACAATAAAGGTTA GGAATTTGG	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	5/31			chr12	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0103 a0003c0003t0011g0103	1	258	0.0039	39	c.678 others(54): Show c.678-150_678-149insATATATATATATATATATATATATATATAT ATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP4_chr19_1900399_1931013	1927724	T T	TTGAACAT others(32): Show TTGAACATCTGGCTTCATAGAGGACAAGAGGGATGGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	440	0.0023	39	c.34 others(50): Show c.3440_*3441insTGAACATCTGGCTTCATAGAGGACAAGAGGGATG GCTCA	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding		1712		chr19	TogoVar
SCAPER_chr15_76342904_76910340	76497989	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0197 a0008c0021t0001g0197	1	25	0.0400	39	c.295 others(58): Show c.2954+6869_2954+6870insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0105 a0003c0007t0003g0105	1	417	0.0024	39	c.196 others(56): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT TTTTTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCGB1C1_chr11_188078_199575	195909	C C	CTGGTGAG others(32): Show CTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG01884.hp2 others(23): Show HG01243.hp1 HG01433.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0001 a0001c0004t0001g0018 a0001c0004t0002g0001 a0001c0004t0001g0001 a0001c0004t0001g0018 a0001c0004t0002g0001	26	354	0.0734	39	c.14 others(50): Show c.1459_*1460insTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGG GACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1335		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196089	T T	TGGGGGGG others(32): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	353	0.0028	39	c.16 others(50): Show c.1639_*1640insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1515		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196404	G G	GGGACATG others(32): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTAGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03516.hp1 NA19240.hp2 HG02055.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	3	318	0.0094	39	c.19 others(50): Show c.1954_*1955insGGACATGGGGGGGACCTTGGTGAGGGGACCTAGT GAGGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1830		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196404	G G	GGGACATG others(32): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG01884.hp2 others(19): Show HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0018 a0001c0004t0001g0001 a0001c0004t0001g0018	22	337	0.0653	39	c.19 others(50): Show c.1954_*1955insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1830		chr11	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03491.hp2 HG03239.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0167 a0002c0002t0002 a0002c0002t0167	a0002c0002t0002g0332 a0002c0002t0167g0331 a0002c0002t0002g0332 a0002c0002t0167g0331	2	167	0.0120	39	c.354 others(54): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	78	0.0128	39	c.687 others(56): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107802689	C C	CTCTCCCT others(32): Show CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0157 a0001c0001t0013g0157	1	182	0.0055	39	c.-60 others(58): Show c.-60+21436_-60+21437insAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN5A_chr3_38543062_38654687	38567061	A A	ATGAGATG others(32): Show ATGAGATGGCCTTAAGTGGTAGATGGATAATAAGGTAGAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	338	0.0030	39	c.366 others(56): Show c.3667-518_3667-480dupCTCTACCTTATTATCCATCTACCACTTA AGGCCATCTCA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	20/27			chr3	TogoVar

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