Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	242973	TTCCTCTA others(61): Show TTCCTCTATTGAATACCTTCCTCTATTGAATACCTTCCTCTATTGAATAC CTTCCTCTATTGAATACCA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	133	0.0075	-68	c.613 others(85): Show c.613+4070_613+4137delTGGTATTCAATAGAGGAAGGTATTCAAT AGAGGAAGGTATTCAATAGAGGAAGGTATTCAATAGAGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191673	TATATATA others(61): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02965.hp1 HG06807.hp1 others(1): Show HG01433.hp1 HG02965.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0079 a0001c0001t0002 a0001c0001t0006 a0001c0001t0079	a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0006g0197 others(1): Show a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0006g0197 a0001c0001t0079g0080	4	272	0.0147	-68	c.-38 others(79): Show c.-3842_-3775delGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3475		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191895	TATATATA others(61): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG01081.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0242 a0001c0001t0012g0248 a0001c0001t0012g0242 a0001c0001t0012g0248	2	272	0.0074	-68	c.-40 others(79): Show c.-4064_-3997delGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3697		chrX	TogoVar
RPTOR_chr17_80539838_80971368	80691263	GTGTGTGG others(61): Show GTGTGTGGGTGTGATATGTGTGTGTGCATGTCGTGTGTGTGTGCATGCAC GTGTGTGCATGCATAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(37): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0005 a0001c0006 others(29): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0001c0028 a0001c0029 a0001c0038 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0001c0056 a0001c0057 a0001c0059 a0001c0064 a0001c0068 a0001c0070 a0001c0079 a0001c0088 a0001c0089 a0002c0063 a0005c0092	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(35): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0084 a0001c0008t0081 a0001c0009t0006 a0001c0011t0029 a0001c0016t0031 a0001c0020t0093 a0001c0021t0065 a0001c0025t0051 a0001c0025t0052 a0001c0028t0006 a0001c0029t0085 a0001c0038t0007 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0045t0091 a0001c0047t0012 a0001c0048t0073 a0001c0056t0001 a0001c0057t0077 a0001c0059t0080 a0001c0064t0006 a0001c0068t0025 a0001c0070t0020 a0001c0079t0050 a0001c0088t0007 a0001c0089t0006 a0002c0063t0020 a0005c0092t0012	a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 others(37): Show a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0084g0007 a0001c0008t0081g0019 a0001c0009t0006g0142 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0020t0093g0034 a0001c0021t0065g0112 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0028t0006g0124 a0001c0029t0085g0012 a0001c0038t0007g0178 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0045t0091g0036 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0056t0001g0107 a0001c0057t0077g0016 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0070t0020g0003 a0001c0079t0050g0097 a0001c0088t0007g0141 a0001c0089t0006g0159 a0002c0063t0020g0001 a0005c0092t0012g0163	40	196	0.2041	-68	c.349 others(87): Show c.349-16571_349-16504delGGTGTGATATGTGTGTGTGCATGTCG TGTGTGTGTGCATGCACGTGTGTGCATGCATAGGTATGTGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(61): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18989.hp2 NA18944.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0225 a0001c0001t0001g0227	2	314	0.0064	-68	c.421 others(85): Show c.421+3899_421+3966delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RTP5_chr2_241864729_241878823	241866292	CGCGGGAT others(61): Show CGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTGCGGGGGATGCTGAGC TGCGGGGGATGCTGAGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(83): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG03492.hp2 HG03669.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0002 a0023 a0002 a0023	a0002c0002 a0023c0026 a0002c0002 a0023c0026	a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 others(8): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0023c0026t0026	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 others(13): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0010g0002 a0002c0002t0015g0002 a0002c0002t0018g0002 a0002c0002t0018g0013 a0002c0002t0028g0002 a0002c0002t0029g0002 a0002c0002t0031g0002 a0002c0002t0036g0002 a0002c0002t0037g0002 a0002c0002t0038g0002 a0023c0026t0026g0002	86	365	0.2356	-68	c.-34 others(79): Show c.-3464_-3397delGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTG CGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3436		chr2	TogoVar
RYR2_chr1_237037184_237838988	237758307	TGTCTATG others(61): Show TGTCTATGTGGAACTTGTCTGTTTTCTTTATAACTTCAAATATATATCCC ACCATCTCCTTTGATCCTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0038 a0001c0036t0003g0038	1	100	0.0100	-68	c.113 others(87): Show c.11325+532_11325+599delGTCTATGTGGAACTTGTCTGTTTTCT TTATAACTTCAAATATATATCCCACCATCTCCTTTGATCCTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	82/104			chr1	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(61): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18959.hp2 HG02886.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0002c0002t0001 a0001c0003t0005 a0002c0002t0001	a0001c0003t0005g0266 a0002c0002t0001g0216 a0001c0003t0005g0266 a0002c0002t0001g0216	2	322	0.0062	-68	c.157 others(85): Show c.157-2509_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCGB1C2_chr17_132569_144067	136348	AACCCTAA others(61): Show AACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCT AACCCTAACCCTAACCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03209.hp1 HG01952.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	402	0.0050	-68	c.-12 others(79): Show c.-1242_-1175delACCCTAACCCTAACCCTAACCCCTAACCCCTAAC CCTAACCCTAACCCTAACCCTAACCCTAACCCCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1220		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159626183	GATAGATA others(61): Show GATAGATAGATAGATAGATAGATAGATATATCTAGATATATATATATCTA GATATATCTATCTATCTAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	100	0.0100	-68	c.64- others(87): Show c.64-138232_64-138165delTATCTAGATATATATATATCTAGATA TATCTATCTATCTATATAGATAGATAGATAGATAGATAGATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN1A_chr2_165980813_166133020	166030411	GACCTCAC others(61): Show GACCTCACATTTTTACTCATTATTCTAGAGCTCACTCATCGCAAAAACAA ATGTATTTCTTTTATAATT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02647.hp2 others(8): Show HG02258.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03098.hp1 HG03225.hp2 HG06807.hp1 HG06807.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0031 others(2): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0031 a0001c0001t0051 a0001c0001t0062	a0001c0001t0014g0025 a0001c0001t0014g0027 a0001c0001t0014g0029 others(8): Show a0001c0001t0014g0025 a0001c0001t0014g0027 a0001c0001t0014g0029 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0014g0125 a0001c0001t0019g0035 a0001c0001t0031g0346 a0001c0001t0031g0347 a0001c0001t0051g0036 a0001c0001t0062g0086	11	356	0.0309	-68	c.342 others(87): Show c.3429+5569_3429+5636delAATTATAAAAGAAATACATTTGTTTT TGCGATGAGTGAGCTCTAGAATAATGAGTAAAAATGTGAGGT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	19/28			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191666	TATATATA others(61): Show TATATATATATATATACACACACATATATATATATGTATATATATATATA TACACACATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0063 a0001c0003t0015g0063	1	296	0.0034	-68	c.69 others(79): Show c.6938_*7005delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGTATATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3518		chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(61): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03710.hp2 HG02280.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0276 a0001c0001t0001g0285	2	306	0.0065	-68	c.-8- others(85): Show c.-8-15481_-8-15414delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43205691	CCACACAC others(61): Show CCACACACACCACCCACTCACCACACACTCACCCCCACACACACCACACG CCCACTCACCACTCACCCA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG00741.hp1 others(56): Show HG00558.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp1 HG01346.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18983.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19083.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0009 a0013 a0015	a0001c0004 a0001c0006 a0001c0008 others(21): Show a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0018 a0001c0019 a0001c0024 a0001c0034 a0001c0035 a0001c0039 a0001c0040 a0002c0014 a0002c0046 a0004c0028 a0004c0048 a0005c0030 a0005c0031 a0007c0023 a0007c0041 a0009c0056 a0009c0058 a0013c0057 a0015c0033	a0001c0004t0004 a0001c0004t0016 a0001c0004t0027 others(39): Show a0001c0004t0004 a0001c0004t0016 a0001c0004t0027 a0001c0004t0037 a0001c0004t0038 a0001c0004t0039 a0001c0004t0041 a0001c0004t0088 a0001c0006t0075 a0001c0008t0009 a0001c0008t0020 a0001c0008t0032 a0001c0010t0033 a0001c0010t0074 a0001c0010t0076 a0001c0010t0091 a0001c0010t0092 a0001c0013t0004 a0001c0018t0008 a0001c0019t0008 a0001c0024t0083 a0001c0024t0094 a0001c0034t0008 a0001c0035t0004 a0001c0039t0040 a0001c0040t0071 a0002c0014t0014 a0002c0014t0026 a0002c0014t0078 a0002c0046t0069 a0004c0028t0009 a0004c0028t0087 a0004c0048t0072 a0005c0030t0014 a0005c0031t0005 a0007c0023t0082 a0007c0023t0093 a0007c0041t0081 a0009c0056t0084 a0009c0058t0004 a0013c0057t0077 a0015c0033t0009	a0001c0004t0004g0078 a0001c0004t0004g0120 a0001c0004t0004g0124 others(56): Show a0001c0004t0004g0078 a0001c0004t0004g0120 a0001c0004t0004g0124 a0001c0004t0004g0181 a0001c0004t0004g0233 a0001c0004t0004g0252 a0001c0004t0016g0008 a0001c0004t0016g0015 a0001c0004t0027g0016 a0001c0004t0037g0249 a0001c0004t0038g0238 a0001c0004t0039g0108 a0001c0004t0041g0180 a0001c0004t0088g0276 a0001c0006t0075g0024 a0001c0008t0009g0115 a0001c0008t0009g0200 a0001c0008t0009g0248 a0001c0008t0020g0030 a0001c0008t0020g0091 a0001c0008t0032g0010 a0001c0010t0033g0006 a0001c0010t0074g0071 a0001c0010t0076g0040 a0001c0010t0091g0275 a0001c0010t0092g0274 a0001c0013t0004g0083 a0001c0013t0004g0099 a0001c0013t0004g0116 a0001c0018t0008g0029 a0001c0018t0008g0242 a0001c0018t0008g0257 a0001c0019t0008g0051 a0001c0019t0008g0052 a0001c0019t0008g0264 a0001c0024t0083g0194 a0001c0024t0094g0271 a0001c0034t0008g0033 a0001c0035t0004g0209 a0001c0039t0040g0134 a0001c0040t0071g0151 a0002c0014t0014g0260 a0002c0014t0026g0130 a0002c0014t0026g0235 a0002c0014t0078g0261 a0002c0046t0069g0192 a0004c0028t0009g0044 a0004c0028t0087g0273 a0004c0048t0072g0247 a0005c0030t0014g0239 a0005c0030t0014g0240 a0005c0031t0005g0256 a0007c0023t0082g0073 a0007c0023t0093g0268 a0007c0041t0081g0236 a0009c0056t0084g0262 a0009c0058t0004g0263 a0013c0057t0077g0149 a0015c0033t0009g0061	59	280	0.2107	-68	c.281 others(87): Show c.2815-1610_2815-1543delTGGGTGAGTGGTGAGTGGGCGTGTGG TGTGTGTGGGGGTGAGTGTGTGGTGAGTGGGTGGTGTGTGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43205740	GCCCACTC others(61): Show GCCCACTCACCACTCACCCACACACACACCACCCACTCACCACACACTCA CCCCCACACACACCACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03516.hp1 HG00639.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0037 a0002c0005 a0002c0037	a0002c0005t0080 a0002c0037t0070 a0002c0005t0080 a0002c0037t0070	a0002c0005t0080g0056 a0002c0037t0070g0255 a0002c0005t0080g0056 a0002c0037t0070g0255	2	280	0.0071	-68	c.281 others(87): Show c.2815-1659_2815-1592delTGTGTGGTGTGTGTGGGGGTGAGTGT GTGGTGAGTGGGTGGTGTGTGTGTGGGTGAGTGGTGAGTGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43205783	ACACTCAC others(61): Show ACACTCACCCCCACACACACCACACACCCACTCACCACTCACCCCCACAC ACACCACACACCCACTCAC	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0043 a0002c0002t0067g0043	1	280	0.0036	-68	c.281 others(87): Show c.2814+1683_2815-1635delGTGAGTGGGTGTGTGGTGTGTGTGGG GGTGAGTGGTGAGTGGGTGTGTGGTGTGTGTGGGGGTGAGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280983	TCCTCAGT others(61): Show TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18983.hp1 HG03710.hp2 NA18983.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0154 a0003c0001t0001g0155 a0003c0001t0001g0154 a0003c0001t0001g0155	2	280	0.0071	-68	c.484 others(86): Show c.484+9995_484+10062delGAGGTGACAGGATAGCTGAGGAGGAGA TGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281218	CTCCTCAG others(61): Show CTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTC CTCAGCTACCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0002 a0016c0036t0002	a0016c0036t0002g0136 a0016c0036t0002g0136	1	280	0.0036	-68	c.484 others(85): Show c.484+9760_484+9827delAGGTGACAGGGTAGCTGAGGAGGAGATG ACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281219	TCCTCAGT others(61): Show TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTACCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19003.hp2 NA18943.hp2 NA19003.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0202 a0003c0001t0001g0211 a0003c0001t0001g0202 a0003c0001t0001g0211	2	280	0.0071	-68	c.484 others(85): Show c.484+9759_484+9826delGAGGTGACAGGGTAGCTGAGGAGGAGAT GACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281339	CTCCTCAG others(61): Show CTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTC CTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0025 a0005c0016t0002g0025	1	280	0.0036	-68	c.484 others(85): Show c.484+9639_484+9706delAGGTGACAGGATAGCTGAGGAGGAGATG ACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281350	CCCTGTCA others(61): Show CCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCC TGTCACCTCCCTCAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20300.hp1 HG02717.hp1 NA20300.hp1	a0002 a0002	a0002c0014 a0002c0025 a0002c0014 a0002c0025	a0002c0014t0014 a0002c0025t0034 a0002c0014t0014 a0002c0025t0034	a0002c0014t0014g0260 a0002c0025t0034g0018 a0002c0014t0014g0260 a0002c0025t0034g0018	2	280	0.0071	-68	c.484 others(85): Show c.484+9628_484+9695delATGGCTGAGGGAGGTGACAGGATAGCTG AGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCYL3_chr1_169844631_169898896	169850980	CTTTTTTT others(61): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAG GGTAAGCTCAGGGCCCTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0053 a0003c0004t0053	a0003c0004t0053g0236 a0003c0004t0053g0236	1	418	0.0024	-68	c.26 others(79): Show c.2665_*2732delAAAGGGCCCTGAGCTTACCCTGGCTTGGGAGGCT GCCCAAATAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2665		chr1	TogoVar
SDK1_chr7_3296252_4274000	4216960	AGAGCACC others(61): Show AGAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCAGGCCACC CGGAGCACCACACCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03491.hp2 HG03688.hp1 HG02738.hp1 HG03491.hp2 HG03688.hp1	a0002 a0012 a0014 a0002 a0012 a0014	a0002c0030 a0012c0086 a0014c0083 a0002c0030 a0012c0086 a0014c0083	a0002c0030t0034 a0012c0086t0046 a0014c0083t0044 a0002c0030t0034 a0012c0086t0046 a0014c0083t0044	a0002c0030t0034g0083 a0012c0086t0046g0012 a0014c0083t0044g0004 a0002c0030t0034g0083 a0012c0086t0046g0012 a0014c0083t0044g0004	3	116	0.0259	-68	c.554 others(87): Show c.5540-3004_5540-2937delGGCCACCCGGAGCACCACACCACCCG GAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L3_chr22_30454229_30477017	30454914	TTATATAT others(61): Show TTATATATTATATAATAGATATATAATATATTATTATATATCATATAATA GATATATAATATATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	-68	c.50 others(79): Show c.5039_*5106delTAATAATATATTATATATCTATTATATGATATAT AATAATATATTATATATCTATTATATAATATATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4314		chr22	TogoVar
SETD4_chr21_36029541_36065526	36054721	CGGCTCAT others(61): Show CGGCTCATGGTGGGAATTCCTGCCTCAAGTCTTCCATCAGCTTCCTGGCA GGTTGGATTTGATGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01346.hp2 others(9): Show HG00323.hp1 HG00621.hp2 HG01346.hp2 HG01515.hp2 HG02523.hp1 HG03710.hp1 NA18941.hp1 NA18944.hp2 NA18979.hp1 NA18991.hp2 NA18994.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0005 a0001c0001t0001 a0001c0001t0002 a0002c0004t0005	a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0228 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0228 a0001c0001t0002g0175 a0002c0004t0005g0023 a0002c0004t0005g0236	12	398	0.0302	-68	c.170 others(85): Show c.170-1169_170-1102delAGGAGCATCAAATCCAACCTGCCAGGAA GCTGATGGAAGACTTGAGGCAGGAATTCCCACCATGAGCC	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding	3/11			chr21	TogoVar
SFI1_chr22_31491536_31623588	31521230	ATCAGAGA others(61): Show ATCAGAGACTTGCGAATGTGTGGAATGACACCATCACCAGCAATTGTAGC CTTGATGAGAGAGTCCAAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp2 HG02886.hp1 others(2): Show HG01496.hp1 HG02145.hp2 HG02886.hp1 HG02896.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 others(2): Show a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0006t0001g0311 a0002c0006t0001g0313	5	322	0.0155	-68	c.93- others(83): Show c.93-7457_93-7390delAGAGACTTGCGAATGTGTGGAATGACACCA TCACCAGCAATTGTAGCCTTGATGAGAGAGTCCAATTC	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGCZ_chr8_14079845_15243431	14440667	GTATGTAT others(61): Show GTATGTATATACATACGTATACACGTATATGTATATATGTATATACATAC GTATACACGTATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00738.hp2 others(19): Show HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG02132.hp2 HG02630.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG04204.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(19): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0046 a0001c0001t0050 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0070 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0089 a0002c0002t0007	a0001c0001t0002g0095 a0001c0001t0011g0042 a0001c0001t0012g0004 others(19): Show a0001c0001t0002g0095 a0001c0001t0011g0042 a0001c0001t0012g0004 a0001c0001t0014g0024 a0001c0001t0021g0015 a0001c0001t0022g0007 a0001c0001t0029g0016 a0001c0001t0030g0034 a0001c0001t0031g0013 a0001c0001t0040g0038 a0001c0001t0046g0019 a0001c0001t0050g0045 a0001c0001t0060g0071 a0001c0001t0061g0049 a0001c0001t0062g0082 a0001c0001t0070g0081 a0001c0001t0079g0052 a0001c0001t0082g0063 a0001c0001t0083g0057 a0001c0001t0086g0078 a0001c0001t0089g0050 a0002c0002t0007g0070	22	102	0.2157	-68	c.234 others(89): Show c.234+113997_234+114064delTATACATATACGTGTATACGTATG TATATACATATATACATATACGTGTATACGTATGTATATACATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SH3KBP1_chrX_19528977_19892600	19554037	TAATATAT others(61): Show TAATATATATTAAAATATATTATATATATTAAAATACATTATATATATTA AAATATAATATTATATATC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	204	0.0049	-68	c.138 others(87): Show c.1385-4022_1385-3955delGATATATAATATTATATTTTAATATA TATAATGTATTTTAATATATATAATATATTTTAATATATATT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3RF2_chr5_145931578_146068292	146064683	AAAGAAAG others(61): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03471.hp2 HG02896.hp1 HG03471.hp2	a0005 a0014 a0005 a0014	a0005c0004 a0014c0017 a0005c0004 a0014c0017	a0005c0004t0001 a0014c0017t0001 a0005c0004t0001 a0014c0017t0001	a0005c0004t0001g0145 a0014c0017t0001g0249 a0005c0004t0001g0145 a0014c0017t0001g0249	2	272	0.0074	-68	c.19 others(79): Show c.1983_*2050delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1392		chr5	TogoVar
SHB_chr9_37910898_38074227	37918421	CTGTGTGT others(61): Show CTGTGTGTGTGTGTGTGTGTGTGTGTAGGTGTTCTTGTGTGTGGAAGCAG TGTGGACCACTGAGGGCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01175.hp2 others(42): Show HG00639.hp1 HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03927.hp1 HG04228.hp2 NA18949.hp2 NA18960.hp1 NA18966.hp2 NA18970.hp2 NA18980.hp1 NA19011.hp2 NA19087.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0012 a0006c0026	a0001c0001t0003 a0001c0001t0028 a0001c0001t0057 others(10): Show a0001c0001t0003 a0001c0001t0028 a0001c0001t0057 a0001c0002t0003 a0001c0002t0058 a0001c0002t0059 a0001c0002t0064 a0001c0003t0028 a0001c0004t0009 a0001c0005t0009 a0001c0007t0003 a0002c0012t0003 a0006c0026t0003	a0001c0001t0003g0210 a0001c0001t0028g0216 a0001c0001t0057g0278 others(40): Show a0001c0001t0003g0210 a0001c0001t0028g0216 a0001c0001t0057g0278 a0001c0002t0003g0002 a0001c0002t0003g0064 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0080 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0058g0176 a0001c0002t0059g0175 a0001c0002t0064g0070 a0001c0003t0028g0168 a0001c0004t0009g0039 a0001c0005t0009g0040 a0001c0005t0009g0041 a0001c0005t0009g0042 a0001c0005t0009g0043 a0001c0007t0003g0226 a0001c0007t0003g0244 a0001c0007t0003g0245 a0001c0007t0003g0253 a0002c0012t0003g0001 a0002c0012t0003g0034 a0006c0026t0003g0188	45	330	0.1364	-68	c.13 others(79): Show c.1332_*1399delCAGCCCTCAGTGGTCCACACTGCTTCCACACACA AGAACACCTACACACACACACACACACACACACA	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	1332		chr9	TogoVar
SHC2_chr19_411589_466033	427645	GGCGCACA others(61): Show GGCGCACAGCACACGGAAGGGGGCGGCACAGGGAAGGGGGAACTGCACAC GGCGCAGGGAAGGGGAATT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0182 a0003c0008t0005g0182	1	212	0.0047	-68	c.117 others(87): Show c.1175-2482_1175-2415delAATTCCCCTTCCCTGCGCCGTGTGCA GTTCCCCCTTCCCTGTGCCGCCCCCTTCCGTGTGCTGTGCGC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHOX_chrX_625791_656584	628701	CTCTCTCT others(61): Show CTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCTAT CTGTCTGTCTCTCTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02970.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG02970.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0001t0058 a0001c0001t0167 others(1): Show a0001c0001t0022 a0001c0001t0058 a0001c0001t0167 a0001c0003t0191	a0001c0001t0022g0050 a0001c0001t0058g0014 a0001c0001t0167g0015 others(1): Show a0001c0001t0022g0050 a0001c0001t0058g0014 a0001c0001t0167g0015 a0001c0003t0191g0013	4	220	0.0182	-68	c.-21 others(79): Show c.-2196_-2129delTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTG TTTCTCTCTCTCTATCTGTCTGTCTCTCTCTTTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2089		chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(61): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02630.hp1 HG02071.hp1 HG02630.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0017 a0004c0003t0001g0155 a0002c0002t0001g0017 a0004c0003t0001g0155	2	175	0.0114	-68	c.295 others(87): Show c.2957+9269_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIM1_chr6_100380009_100469921	100412587	GAAAGAAA others(61): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAG AAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0313 a0002c0002t0017g0313	1	320	0.0031	-68	c.116 others(87): Show c.1167+8135_1167+8202delTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCCTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SKAP1_chr17_48128442_48435214	48342412	TTTCTATA others(61): Show TTTCTATATTCTTCTAGCACTCTTTGTAGTTTTCACAAAGTCATGACCTA AACACAATATGCAGCATGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp1 others(28): Show HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02148.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02698.hp2 HG02897.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18953.hp1 NA18954.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0005 a0002c0004 a0003c0006 others(1): Show a0001c0005 a0002c0004 a0003c0006 a0004c0007	a0001c0005t0001 a0001c0005t0002 a0002c0004t0001 others(2): Show a0001c0005t0001 a0001c0005t0002 a0002c0004t0001 a0003c0006t0001 a0004c0007t0001	a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0214 others(28): Show a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0232 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0002g0205 a0001c0005t0002g0224 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0209 a0002c0004t0001g0210 a0002c0004t0001g0213 a0002c0004t0001g0216 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0223 a0002c0004t0001g0225 a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0004t0001g0231 a0003c0006t0001g0204 a0003c0006t0001g0208 a0004c0007t0001g0226	31	292	0.1062	-68	c.280 others(85): Show c.280+3425_280+3492delGCATGCTGCATATTGTGTTTAGGTCATG ACTTTGTGAAAACTACAAAGAGTGCTAGAAGAATATAGAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1085638	AAGGGACG others(61): Show AAGGGACGGAGCCCGCGGGGGTCAGCGCACAGGCGAGGGACGGAGCCCGC GGGGGTCAGCGCACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0004 a0004c0027t0004	a0004c0027t0004g0029 a0004c0027t0004g0029	1	118	0.0085	-68	c.676 others(83): Show c.676-233_676-166delCGCCTGTGCGCTGACCCCCGCGGGCTCCGT CCCTCGCCTGTGCGCTGACCCCCGCGGGCTCCGTCCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	6/23			chr5	TogoVar
SLC22A16_chr6_110419687_110481613	110454617	ATATAATA others(61): Show ATATAATATATATTTATATATATTATATATTTTATATATATTATATATAT TTATATATATTATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(83): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG02004.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0002c0028 a0003c0003 a0003c0012 a0017c0029	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0015t0001 a0002c0028t0001 a0003c0003t0001 a0003c0003t0002 a0003c0012t0001 a0017c0029t0001	a0001c0001t0002g0169 a0002c0002t0001g0018 a0002c0002t0001g0067 others(77): Show a0001c0001t0002g0169 a0002c0002t0001g0018 a0002c0002t0001g0067 a0002c0002t0001g0089 a0002c0002t0001g0095 a0002c0002t0001g0115 a0002c0002t0001g0123 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0246 a0002c0002t0001g0283 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0379 a0002c0002t0001g0380 a0002c0002t0001g0383 a0002c0002t0001g0385 a0002c0002t0001g0386 a0002c0002t0001g0387 a0002c0002t0002g0188 a0002c0002t0002g0348 a0002c0015t0001g0031 a0002c0015t0001g0274 a0002c0028t0001g0388 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0032 a0003c0003t0001g0127 a0003c0003t0001g0140 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0001g0272 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0390 a0003c0003t0002g0289 a0003c0003t0002g0328 a0003c0012t0001g0314 a0003c0012t0001g0315 a0003c0012t0001g0384 a0017c0029t0001g0340	86	416	0.2067	-68	c.533 others(85): Show c.533+1853_533+1920delAAATATATAATATATATAAATATATATA ATATATATAAAATATATAATATATATAAATATATATTATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC2A2_chr3_170991347_171031720	171001779	GTTCTTAT others(61): Show GTTCTTATATATCCTTAATATATAAGAACCATCACTTCTTATATATCCTT AATATATAAGAACCATCAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0205 a0002c0004t0002g0205	1	328	0.0031	-68	c.106 others(85): Show c.1068+729_1068+796delGTGATGGTTCTTATATATTAAGGATATA TAAGAAGTGATGGTTCTTATATATTAAGGATATATAAGAA	SLC2A2	ENSG00000163581.14	transcript	ENST00000314251.8	protein_coding	8/10			chr3	TogoVar
SLC6A12_chr12_185081_219157	191464	CCCCTCTG others(61): Show CCCCTCTGTTAATCCCCCTCAATTTTCTTACCTGTAAATTGAGAATAATA GTAGAATGCACCTCACAGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0011	a0002c0007t0011g0033 a0002c0007t0011g0033	1	420	0.0024	-68	c.170 others(85): Show c.1702-321_1702-254delTCTGTGAGGTGCATTCTACTATTATTCT CAATTTACAGGTAAGAAAATTGAGGGGGATTAACAGAGGG	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	15/15			chr12	TogoVar
SLC8B1_chr12_113293771_113340109	113300069	GCAGCCTC others(61): Show GCAGCCTCAACAACAATGCAGCCTCAGCAACAATGCAGCCTCAGCAACAA TGCAGCCTCAACAACAATC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(57): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG01168.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp2 HG03225.hp1 HG03486.hp1 HG03710.hp2 HG04115.hp1 HG06807.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18962.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0008 a0002c0009	a0001c0001t0002 a0001c0007t0009 a0002c0002t0002 others(5): Show a0001c0001t0002 a0001c0007t0009 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0002t0018 a0002c0008t0009 a0002c0009t0002	a0001c0001t0002g0020 a0001c0001t0002g0205 a0001c0007t0009g0128 others(50): Show a0001c0001t0002g0020 a0001c0001t0002g0205 a0001c0007t0009g0128 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0058 a0002c0002t0002g0065 a0002c0002t0002g0183 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0010g0186 a0002c0002t0010g0187 a0002c0002t0011g0029 a0002c0002t0018g0189 a0002c0008t0009g0184 a0002c0008t0009g0185 a0002c0009t0002g0210 a0002c0009t0002g0211	60	284	0.2113	-68	c.155 others(84): Show c.1558-163_1558-96delGATTGTTGTTGAGGCTGCATTGTTGCTGA GGCTGCATTGTTGCTGAGGCTGCATTGTTGTTGAGGCTG	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	15/15			chr12	TogoVar
SLC9A3_chr5_465456_529449	486973	GACCGCAC others(61): Show GACCGCACTGACACCCACCGCACTGACACCGTGATCCAGACCGCACTGAC ACCCACCACACTGACACCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02895.hp1 others(4): Show HG01891.hp1 HG02486.hp2 HG02895.hp1 HG03209.hp2 HG03486.hp1 NA18906.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0001c0001t0004 a0004c0012t0013 a0001c0001t0001 a0001c0001t0004 a0004c0012t0013	a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0056 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0055 a0004c0012t0013g0054 a0004c0012t0013g0132	7	218	0.0321	-68	c.675 others(85): Show c.675+1275_675+1342delGGGTGTCAGTGTGGTGGGTGTCAGTGCG GTCTGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCGGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	487483	GCACTGAC others(61): Show GCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCC ACCGCACTGACACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02809.hp2 others(3): Show HG01891.hp2 HG02486.hp1 HG02809.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106	6	218	0.0275	-68	c.675 others(83): Show c.675+765_675+832delTGGTGGGTGTCAGTGCGGTGGGTGTCAGTG CGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49834369	GTATATAT others(61): Show GTATATATATATATACTGTGTATATATATATACTGTGTATATATATATAC TGTATATATATACTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp2 others(62): Show HG00140.hp2 HG00408.hp2 HG00609.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18974.hp2 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp1 NA19065.hp2 NA19080.hp1 NA19082.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0017 a0001c0003t0022 a0001c0003t0030 a0001c0003t0031	a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 others(61): Show a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0144 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0001t0015g0145 a0001c0001t0015g0146 a0001c0001t0016g0151 a0001c0001t0016g0152 a0001c0001t0024g0143 a0001c0001t0034g0048 a0001c0003t0001g0001 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0323 a0001c0003t0003g0118 a0001c0003t0003g0129 a0001c0003t0007g0064 a0001c0003t0008g0170 a0001c0003t0008g0171 a0001c0003t0008g0176 a0001c0003t0009g0120 a0001c0003t0010g0165 a0001c0003t0010g0166 a0001c0003t0010g0172 a0001c0003t0014g0156 a0001c0003t0017g0159 a0001c0003t0022g0167 a0001c0003t0030g0169 a0001c0003t0031g0123	65	360	0.1806	-68	c.290 others(85): Show c.290-5159_290-5092delTACTGTGTATATATATATACTGTGTATA TATATATACTGTATATATATACTGTATATATATATATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMIM10L1_chr12_11166194_11181016	11168284	GAAAGAAA others(61): Show GAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01993.hp1 others(7): Show HG00639.hp1 HG00735.hp2 HG01993.hp1 HG02109.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp2 HG03098.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019	a0001c0002t0003g0000 a0001c0002t0005g0000 a0001c0002t0012g0000 others(2): Show a0001c0002t0003g0000 a0001c0002t0005g0000 a0001c0002t0012g0000 a0001c0002t0018g0000 a0001c0002t0019g0000	10	397	0.0252	-68	c.-30 others(79): Show c.-3072_-3005delAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2909		chr12	TogoVar
SMTN_chr22_31076318_31109624	31106657	GCTCAAGC others(61): Show GCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGCACCACCGGCACCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	362	0.0028	-68	c.23 others(79): Show c.2363_*2430delCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGT GCTGGGATTACAGGCGTGCACCACCGGCACCCAA	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2034		chr22	TogoVar
SMYD3_chr1_245744347_246512279	245774634	CCCACAGT others(61): Show CCCACAGTCTCCCTCTCCCTCTCTTTCCACCGTCTCCCTCTCCCTTTCCC ACGGTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01081.hp2 others(9): Show HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01175.hp1 HG01433.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02622.hp1 HG02895.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(2): Show a0001c0001 a0001c0006 a0002c0004 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001	a0001c0001t0001g0021 a0001c0001t0002g0014 a0001c0001t0002g0043 others(9): Show a0001c0001t0001g0021 a0001c0001t0002g0014 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0092 a0001c0006t0001g0025 a0001c0006t0001g0048 a0002c0004t0001g0127 a0002c0004t0001g0149 a0002c0005t0001g0146 a0002c0005t0002g0118 a0002c0007t0001g0124	12	150	0.0800	-68	c.107 others(89): Show c.1077-10553_1077-10486delAGAGGGAGAGGGAGACCGTGGGAA AGGGAGAGGGAGACGGTGGAAAGAGAGGGAGAGGGAGACTGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245774639	AGTCTCCC others(61): Show AGTCTCCCTCTCCCTCTCTTTCCACCGTCTCCCTCTCCCTTTCCCACGGT CTCCCTCTCCCTCTCCACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19088.hp1 HG00408.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0002 a0005c0015t0002 a0001c0001t0002 a0005c0015t0002	a0001c0001t0002g0060 a0005c0015t0002g0094 a0001c0001t0002g0060 a0005c0015t0002g0094	2	150	0.0133	-68	c.107 others(89): Show c.1077-10558_1077-10491delCGTGGAGAGGGAGAGGGAGACCGT GGGAAAGGGAGAGGGAGACGGTGGAAAGAGAGGGAGAGGGAGAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1094126	GAAGGCCT others(61): Show GAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCA GCTTCCTGGCCTGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(47): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00642.hp2 HG00673.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02015.hp2 HG02148.hp1 HG02165.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18942.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0022	a0001c0001 a0001c0002 a0002c0003 others(11): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0008 a0004c0004 a0005c0006 a0006c0010 a0007c0024 a0008c0011 a0009c0013 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0005c0006t0001 a0006c0010t0001 a0007c0024t0002 a0008c0011t0001 a0009c0013t0001 a0022c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0062 others(47): Show a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0178 a0001c0002t0001g0017 a0001c0002t0001g0087 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0002t0001g0186 a0001c0002t0004g0053 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0092 a0002c0003t0001g0129 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0154 a0002c0005t0001g0020 a0002c0005t0001g0114 a0002c0005t0001g0131 a0002c0005t0001g0156 a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0022t0001g0155 a0003c0007t0001g0018 a0003c0007t0001g0184 a0003c0008t0001g0013 a0003c0008t0001g0130 a0003c0008t0001g0190 a0004c0004t0001g0180 a0004c0004t0001g0181 a0005c0006t0001g0019 a0005c0006t0001g0176 a0005c0006t0001g0189 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0043 a0006c0010t0001g0162 a0007c0024t0002g0073 a0008c0011t0001g0128 a0008c0011t0001g0182 a0008c0011t0001g0188 a0009c0013t0001g0042 a0009c0013t0001g0164 a0022c0021t0001g0111	50	190	0.2632	-68	c.211 others(85): Show c.211-3953_211-3886delAGCTTCCTGGCCTGCAGGCAAAGGCCTT ATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1094339	ATAGGTGT others(61): Show ATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGG ACTGCAGGCGAAGGCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0096 a0010c0012t0001g0096	1	190	0.0053	-68	c.211 others(85): Show c.211-3818_211-3751delTGGCTTCCTGGACTGCAGGCGAAGGCCT TGTAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1094582	CGGCTTCC others(61): Show CGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGT AGAGTTACTGGCAAGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	190	0.0053	-68	c.211 others(85): Show c.211-3478_211-3411delTGGCTTCCTGGACTGCAGGCGAAGGCCT TATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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