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 haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
DSG3_chr18_31442741_31483702	31457524	TTTCTTTC others(54): Show TTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02723.hp2 others(10): Show HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0029 a0001c0003t0012 a0003c0004t0011 others(2): Show a0001c0001t0029 a0001c0003t0012 a0003c0004t0011 a0003c0004t0017 a0003c0004t0042	a0001c0001t0029g0205 a0001c0003t0012g0042 a0001c0003t0012g0247 others(6): Show a0001c0001t0029g0205 a0001c0003t0012g0042 a0001c0003t0012g0247 a0003c0004t0011g0040 a0003c0004t0011g0041 a0003c0004t0011g0250 a0003c0004t0017g0014 a0003c0004t0017g0154 a0003c0004t0042g0014	13	346	0.0376	-61	c.216 others(76): Show c.216+425_216+485delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCTTTCTTTCT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DUSP22_chr6_287487_356355	326429	TGGTGCCT others(54): Show TGGTGCCTGGAGTCATCTGCCCTGGGCTTCTGCGTCCTGGTGTCTGCAAT GCTGTATCTGCG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	221	0.0045	-61	c.139 others(78): Show c.139-8673_139-8613delTCATCTGCCCTGGGCTTCTGCGTCCTGG TGTCTGCAATGCTGTATCTGCGGGTGCCTGGAG	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DYNC2I1_chr7_158851558_158951189	158950386	CAGGACCA others(54): Show CAGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTG ATATACTGCACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA19240.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0004 a0001c0001t0006g0005	2	274	0.0073	-61	c.46 others(72): Show c.4608_*4668delAGGACCAGCCTCTATATGATTCCAGGTGTTCTAT ATGATTCCAGGTGTGATATACTGCACG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4198		chr7	TogoVar
EBI3_chr19_4224523_4242528	4233398	GGCTGCAC others(54): Show GGCTGCACCTTCACACTTAAGCAAAAATCTGACCCCTTCTTCCCCCTCCT CTACCAGTACGT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	438	0.0023	-61	c.379 others(75): Show c.379+93_379+153delCTGCACCTTCACACTTAAGCAAAAATCTGAC CCCTTCTTCCCCCTCCTCTACCAGTACGTG	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF3B_chr7_2349827_2385745	2377877	CCTGGGAA others(54): Show CCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAG GCGCGAGCACTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01943.hp1 others(5): Show HG00738.hp2 HG01099.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02300.hp1 HG03831.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0219 a0002c0002t0001g0001 a0002c0002t0001g0350 others(2): Show a0001c0003t0001g0219 a0002c0002t0001g0001 a0002c0002t0001g0350 a0002c0002t0001g0353 a0002c0002t0001g0354	8	384	0.0208	-61	c.215 others(78): Show c.2155-805_2155-745delAGCCGTGTTGTGTGAATGACCCTGGGTG TCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377884	AGCCGTGT others(54): Show AGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAG CACTGCTGGGAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02258.hp1 others(6): Show HG00642.hp2 HG01496.hp2 HG02258.hp1 HG03688.hp1 NA18906.hp2 NA18947.hp1 NA18966.hp2 NA18998.hp1 NA19081.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0019 a0002c0002 a0010c0019	a0002c0002t0001 a0010c0019t0001 a0002c0002t0001 a0010c0019t0001	a0002c0002t0001g0248 a0002c0002t0001g0257 a0002c0002t0001g0271 others(6): Show a0002c0002t0001g0248 a0002c0002t0001g0257 a0002c0002t0001g0271 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0293 a0010c0019t0001g0239	9	384	0.0234	-61	c.215 others(78): Show c.2155-796_2155-736delGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCGAGCACTGCTGGGATGCCGTGTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOB_chr16_2766414_2782280	2780468	GGATGAAT others(54): Show GGATGAATGGGAGCTCCAGGCCCCTCCCCAGCACCTCAACCTGCACATTG CTTCATCTGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	438	0.0023	-61	c.-32 others(72): Show c.-3290_-3230delATCCAGATGAAGCAATGTGCAGGTTGAGGTGCTG GGGAGGGGCCTGGAGCTCCCATTCATC	ELOB	ENSG00000103363.16	transcript	ENST00000409906.9	protein_coding		3189		chr16	TogoVar
ELOVL5_chr6_53262404_53353950	53306208	AAGGGGAG others(54): Show AAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGA GGGAGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	320	0.0031	-61	c.-8- others(78): Show c.-8-10562_-8-10502delCTCCCCTCTCCCTCTCCCCTCTCCCCTC TCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
EML5_chr14_88607431_88797953	88796582	TATAATAT others(54): Show TATAATATATATTATATGTTATATATGTTATACATATTATATGTTATATG TTATATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0221 a0001c0003t0006g0221	1	332	0.0030	-61	c.-41 others(72): Show c.-4140_-4080delTAATATATATAACATATAACATATAATATGTATA ACATATATAACATATAATATATATTAT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3630		chr14	TogoVar
EML6_chr2_54718662_54977025	54907900	TTAGATAG others(54): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGA TAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01069.hp2 others(15): Show HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04199.hp2 NA18522.hp2 NA19043.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0015	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0010 a0001c0002t0020 a0001c0002t0041 a0001c0004t0040 a0001c0005t0001 a0001c0005t0003 a0001c0015t0001	a0001c0001t0001g0211 a0001c0001t0005g0215 a0001c0002t0001g0021 others(15): Show a0001c0001t0001g0211 a0001c0001t0005g0215 a0001c0002t0001g0021 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0010g0025 a0001c0002t0010g0071 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0041g0095 a0001c0004t0040g0094 a0001c0005t0001g0015 a0001c0005t0001g0088 a0001c0005t0001g0093 a0001c0005t0003g0118 a0001c0005t0003g0119 a0001c0005t0003g0121 a0001c0015t0001g0030	18	264	0.0682	-61	c.341 others(80): Show c.3410-3011_3410-2951delGATAAGATAGATAGATAGATAGATAG ATAGATAGATAGATAGATAGATAGATAGATAGATA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMSY_chr11_76440018_76558031	76494675	CTTCCTTC others(54): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0309 a0001c0001t0027g0309	1	360	0.0028	-61	c.115 others(80): Show c.1154-1525_1154-1465delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENOSF1_chr18_665318_717630	667556	TGGTGATG others(54): Show TGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATG GTGATGGAGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	418	0.0024	-61	c.66 others(72): Show c.6688_*6748delCATCTCCATCACCATCACCATCACCATCACCATC ACCATCACCATCTCCATCACCATCACC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2761		chr18	TogoVar
EPAS1_chr2_46292407_46391697	46381755	CCATAGCC others(54): Show CCATAGCCCTTAGGGAACCCAGGGCTGCTGAGAGGGGTGGGGATGTGGCC CTTCCAAGCCAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	326	0.0031	-61	c.217 others(76): Show c.2172+97_2173-96delTAGCCCTTAGGGAACCCAGGGCTGCTGAGA GGGGTGGGGATGTGGCCCTTCCAAGCCAGCA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
ERICH1_chr8_659200_736224	660083	GGGCTGAG others(54): Show GGGCTGAGCTCCCGAAGGCAGGGCCTTCCCCGACTCTCCCCCTGGCCCCT GCCCGGGGTCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01934.hp2 HG02055.hp1 others(6): Show HG01099.hp1 HG01934.hp2 HG02055.hp1 HG02280.hp2 HG02486.hp2 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0079 a0001c0001t0001g0156 a0001c0001t0001g0207 others(6): Show a0001c0001t0001g0079 a0001c0001t0001g0156 a0001c0001t0001g0207 a0001c0001t0002g0292 a0001c0003t0001g0218 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0002g0284	9	378	0.0238	-61	c.44 others(72): Show c.4459_*4519delATGACCCCGGGCAGGGGCCAGGGGGAGAGTCGGG GAAGGCCCTGCCTTCGGGAGCTCAGCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4116		chr8	TogoVar
ERICH1_chr8_659200_736224	660139	GGTCATGG others(54): Show GGTCATGGCTGAGCTCCCGAAGGCAGGGCCTTCCCCGACTCTCCCCCTGG CCCCTGCCCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02970.hp1 HG03130.hp2 HG01255.hp1 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0314 a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0314	3	378	0.0079	-61	c.44 others(72): Show c.4403_*4463delACTGGGCAGGGGCCAGGGGGAGAGTCGGGGAAGG CCCTGCCTTCGGGAGCTCAGCCATGAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4060		chr8	TogoVar
ERICH1_chr8_659200_736224	695631	ACCTGTGC others(54): Show ACCTGTGCTTGCTCCTCTCGCCCTCCACTCCTCTCCTTCCTCCCCATCAG CCTGCACCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp1 HG03490.hp1 HG01099.hp1 HG03098.hp1 HG03490.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0002 a0002c0005t0001 a0002c0005t0002	a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0002g0284 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0002g0284	3	378	0.0079	-61	c.170 others(78): Show c.170-3080_170-3020delCACAGGTGCAGGCTGATGGGGAGGAAGG AGAGGAGTGGAGGGCGAGAGGAGCAAGCACAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695795	CACCTGTG others(54): Show CACCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCTCCCTCCCCATCA GCCTGCACCTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03704.hp2 HG00544.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0001g0150 a0001c0001t0001g0194	2	378	0.0053	-61	c.170 others(78): Show c.170-3244_170-3184delACAGGTGCAGGCTGATGGGGAGGGAGGA GAGGAAGGGAGGGTGAGAGGAGCCAGCACAGGT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695796	ACCTGTGC others(54): Show ACCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCTCCCTCCCCATCAG CCTGCACCTGTG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0343 a0001c0002t0002g0343	1	378	0.0027	-61	c.170 others(78): Show c.170-3245_170-3185delCACAGGTGCAGGCTGATGGGGAGGGAGG AGAGGAAGGGAGGGTGAGAGGAGCCAGCACAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696058	CGCCTGTG others(54): Show CGCCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCCTCCTCCCCATCA GCCTGCACCTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp1 others(92): Show HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01243.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18967.hp1 NA18969.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0001c0003 a0006c0008 others(1): Show a0001c0001 a0001c0003 a0006c0008 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0006c0008t0001 a0011c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(87): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0254 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0003t0002g0252 a0006c0008t0001g0131 a0006c0008t0001g0179 a0011c0010t0002g0356	95	378	0.2513	-61	c.170 others(78): Show c.170-3507_170-3447delACAGGTGCAGGCTGATGGGGAGGAGGGA GAGGAAGGGAGGGTGAGAGGAGCCAGCACAGGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073484	ATGTATAT others(54): Show ATGTATATATATATATATATATATATATATATGTATATATATATATATAT ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG02615.hp1 others(8): Show HG00621.hp1 HG00642.hp2 HG02615.hp1 HG02717.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18982.hp2 NA19064.hp1 NA19087.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0008c0008t0002 a0001c0001t0001 a0001c0001t0002 a0008c0008t0002	a0001c0001t0001g0078 a0001c0001t0001g0286 a0001c0001t0001g0303 others(8): Show a0001c0001t0001g0078 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0310 a0001c0001t0001g0320 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0368 a0008c0008t0002g0102	11	442	0.0249	-61	c.58+ others(76): Show c.58+8758_58+8818delTGTATATATATATATATATATATATATATA TGTATATATATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ETS1_chr11_128453765_128592558	128585063	AGAAAGAA others(54): Show AGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGG AAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01978.hp2 others(6): Show HG00438.hp2 HG00642.hp2 HG01978.hp2 HG02155.hp1 HG03017.hp1 NA18984.hp2 NA18990.hp2 NA19043.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0030 a0001c0002t0002 others(3): Show a0001c0001t0023 a0001c0001t0030 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011	a0001c0001t0023g0107 a0001c0001t0030g0058 a0001c0002t0002g0185 others(6): Show a0001c0001t0023g0107 a0001c0001t0030g0058 a0001c0002t0002g0185 a0001c0002t0002g0211 a0001c0002t0003g0057 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0008g0109 a0001c0002t0011g0186	9	286	0.0315	-61	c.-15 others(78): Show c.-15+2364_-15+2424delCTTTCTTTCCTTCCTTCCTTCCTTTCTT TCTTTCCTTTCTTTCTTTCTCTTTCTTTCTTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS2_chr21_38800929_38829955	38815996	AAGGAAGG others(54): Show AAGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAG GGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp1 HG02809.hp2 others(3): Show HG00558.hp2 HG02145.hp1 HG02809.hp2 HG03130.hp1 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0007 a0001c0001t0006 a0001c0002t0002 a0001c0002t0007	a0001c0001t0006g0318 a0001c0002t0002g0078 a0001c0002t0007g0013 others(1): Show a0001c0001t0006g0318 a0001c0002t0002g0078 a0001c0002t0007g0013 a0001c0002t0007g0325	6	426	0.0141	-61	c.506 others(77): Show c.506-1011_506-951delAGGAAGGAAGGAAGGAGGGAGGGAGGGAA GGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAG	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9			chr21	TogoVar
ETS2_chr21_38800929_38829955	38815997	AGGAAGGA others(54): Show AGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAGG GAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp1 HG03017.hp2 others(5): Show HG00438.hp1 HG02155.hp1 HG03017.hp2 NA18943.hp2 NA18954.hp2 NA18984.hp2 NA19007.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0119 a0001c0002t0002g0224 others(3): Show a0001c0002t0002g0010 a0001c0002t0002g0119 a0001c0002t0002g0224 a0001c0002t0002g0230 a0001c0002t0002g0245 a0001c0002t0002g0278	8	426	0.0188	-61	c.506 others(77): Show c.506-1007_506-947delAGGAAGGAAGGAGGGAGGGAGGGAAGGAA GGAAGGAAAGAAAGAGGGAGGGAGGGAGGGGA	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXD3_chr9_137301896_137428162	137348713	AGGAGGGG others(54): Show AGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGGTTAGATA GAGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0004 a0021c0023t0001g0004	1	82	0.0122	-61	c.183 others(78): Show c.1830+336_1830+396delCCCTCCCCTCTCTATCTAACCCCTCCCC GTGATCCCCACCCCTCTCTATCTAGCCCCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	16/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501386	ATATATCT others(54): Show ATATATCTATATATATTATATATATCTATATATTATATATATCTATATAT ATTATATATATC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18998.hp2 NA19077.hp1 others(1): Show NA18946.hp1 NA18998.hp2 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0004 a0001c0004t0004 a0001c0001t0004 a0001c0002t0004 a0001c0004t0004	a0001c0001t0004g0042 a0001c0002t0004g0022 a0001c0004t0004g0210 others(1): Show a0001c0001t0004g0042 a0001c0002t0004g0022 a0001c0004t0004g0210 a0001c0004t0004g0211	4	272	0.0147	-61	c.238 others(80): Show c.2381-1747_2381-1687delGATATATATAATATATATAGATATAT ATAATATATAGATATATATAATATATATAGATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133823834	ATATATAT others(54): Show ATATATATATTATATATATATATATATATATATATATATTATATATATAT ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0058 a0001c0003t0018g0058	1	102	0.0098	-61	c.173 others(80): Show c.1734+6300_1734+6360delTATATATATATATATATATATATATA TATTATATATATATATATATATATTTTATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOSC7_chr3_44971244_45016471	45011078	TTTTGTTT others(54): Show TTTTGTTTTAATTTGCTTTAATTAAATAAAAGTCCTCTAAGGCAGATGGA ATGTGTACAATG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	340	0.0029	-61	c.772 others(75): Show c.772-155_772-95delTTGTTTTAATTTGCTTTAATTAAATAAAAGT CCTCTAAGGCAGATGGAATGTGTACAATGT	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM120B_chr6_170301758_170412067	170377437	ACACAGGC others(54): Show ACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGA TGCCTGGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	289	0.0035	-61	c.228 others(82): Show c.2284-10807_2284-10747delTCCCAGATGCCTGGGAGAGCACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM167A_chr8_11416476_11471753	11466423	CGAACCCG others(54): Show CGAACCCGCGGGAGCGCATGAGCGGCCTCTCCCGGGGGGGCGGTAGGAGC GCGTCCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02698.hp2 HG02738.hp1 others(10): Show HG02622.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 a0001c0001t0035 a0001c0001t0042 a0001c0001t0098 a0001c0008t0077	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0002g0102 others(8): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0002g0102 a0001c0001t0015g0004 a0001c0001t0015g0110 a0001c0001t0023g0103 a0001c0001t0023g0104 a0001c0001t0035g0101 a0001c0001t0042g0105 a0001c0001t0098g0106 a0001c0008t0077g0108	13	374	0.0348	-61	c.-39 others(78): Show c.-398+142_-398+202delTGGAGGGGACGCGCTCCTACCGCCCCCC CGGGAGAGGCCGCTCATGCGCTCCCGCGGGTTC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FAM227B_chr15_49321970_49625818	49489803	TTATATAT others(54): Show TTATATATATATATATATTTTATATATATATATATATTTTATATATATAT ATATATTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(46): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01257.hp1 HG01361.hp1 HG01884.hp1 HG01978.hp2 HG02056.hp1 HG02109.hp2 HG02165.hp1 HG02451.hp2 HG02615.hp1 HG02683.hp1 HG02970.hp1 HG03041.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18998.hp2 NA19009.hp1 NA19012.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0021 a0001c0009t0002	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0032 others(46): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0218 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0004g0180 a0001c0001t0005g0147 a0001c0002t0021g0281 a0001c0009t0002g0175	49	294	0.1667	-61	c.101 others(82): Show c.1012+18347_1012+18407delTATAAAATATATATATATATATAA AATATATATATATATATAAAATATATATATATATATA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM53A_chr4_1634887_1689313	1640930	GTCTGTGC others(54): Show GTCTGTGCCCCAGGGCAGTGCAGGCGGCAGCCGTGGCCCCGACCAGCTCA CAGGAAACCTAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0057 a0001c0001t0037g0057	1	350	0.0029	-61	c.30 others(70): Show c.302_*362delGTAGGTTTCCTGTGAGCTGGTCGGGGCCACGGCTGC CGCCTGCACTGCCCTGGGGCACAGA	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	5/5	302		chr4	TogoVar
FAM78B_chr1_166064299_166172001	166077865	TATATATA others(54): Show TATATATAATTATATATATAATAAATATATATAATTTATATATATAATTA TATATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp1 others(3): Show HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02970.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 others(3): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0179 a0001c0002t0011g0010	6	318	0.0189	-61	c.264 others(78): Show c.264-7163_264-7103delTTATTATATATATAATTATATATATAAA TTATATATATTTATTATATATATAATTATATAT	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM9B_chrX_9019232_9039127	9022496	GATATAAT others(54): Show GATATAATATATATTATATTATGTATAAGATATAATATATATTATATTAT GTATAAGATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG03540.hp2 HG02280.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	3	258	0.0116	-61	c.28 others(72): Show c.2852_*2912delTATATCTTATACATAATATAATATATATTATATC TTATACATAATATAATATATATTATAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1735		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022746	ATATATTA others(54): Show ATATATTATATTATGTATAAGATATAATATATATTATATTATGTATAAGA TATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02559.hp1 HG02132.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	258	0.0078	-61	c.26 others(72): Show c.2602_*2662delATATATATTATATCTTATACATAATATAATATAT ATTATATCTTATACATAATATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1485		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9023138	ATATATTA others(54): Show ATATATTATATTATGTATAAGATATAATATATATTATATTATGTATAATA TATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	-61	c.22 others(72): Show c.2210_*2270delATATATATTATATATTATACATAATATAATATAT ATTATATCTTATACATAATATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1093		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9023165	TATATATT others(54): Show TATATATTATATTATGTATAATATATAATATATATTATATTATGTATAAT ATATAATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	258	0.0039	-61	c.21 others(72): Show c.2183_*2243delTATATATTATATATTATACATAATATAATATATA TTATATATTATACATAATATAATATAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1066		chrX	TogoVar
FGF14_chr13_101705804_101921945	101850466	ATATATAT others(54): Show ATATATATATATATATATATATATATATATATATATATATATATATATAG AATTATATATTC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0206 a0001c0001t0048g0206	1	266	0.0038	-61	c.408 others(80): Show c.408+18198_408+18258delGAATATATAATTCTATATATATATAT ATATATATATATATATATATATATATATATATATA	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FGF7_chr15_49418242_49493775	49489803	TTATATAT others(54): Show TTATATATATATATATATTTTATATATATATATATATTTTATATATATAT ATATATTTTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(58): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01257.hp1 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02109.hp1 HG02165.hp2 HG02451.hp2 HG02615.hp2 HG02683.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 others(52): Show a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0087 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0007g0038 a0001c0001t0007g0133 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0184 a0001c0001t0007g0198 a0001c0001t0007g0203 a0001c0001t0007g0229 a0001c0001t0007g0255 a0001c0001t0007g0261 a0001c0001t0011g0014 a0001c0001t0011g0220 a0001c0001t0014g0064 a0001c0001t0021g0253 a0001c0001t0022g0035 a0001c0001t0027g0224	61	358	0.1704	-61	c.53 others(72): Show c.5300_*5360delTATATATATATATATATTTTATATATATATATAT ATTTTATATATATATATATATTTTATA	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1029		chr15	TogoVar
FMN2_chr1_240086883_240480187	240406205	AGCGAAGG others(54): Show AGCGAAGGGAAGCAGCCTCGGGAGTGGGGGAAGCGAAGGGAAGCAGCCTC GGGAGTCGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0085 a0003c0085	a0003c0085t0004 a0003c0085t0004	a0003c0085t0004g0061 a0003c0085t0004g0061	1	174	0.0058	-61	c.491 others(82): Show c.4910+13644_4910+13704delGCGAAGGGAAGCAGCCTCGGGAGT GGGGGAAGCGAAGGGAAGCAGCCTCGGGAGTCGGGGG	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	15/17			chr1	TogoVar
FNDC11_chr20_63549159_63561695	63559390	ATGGGAGT others(54): Show ATGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGA GTCAGGGTCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-61	c.27 others(72): Show c.2771_*2831delTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGG	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2696		chr20	TogoVar
FNDC11_chr20_63549159_63561695	63559567	GGTCAGGT others(54): Show GGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGG GAGTCAGTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01943.hp2 others(2): Show HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	416	0.0120	-61	c.29 others(72): Show c.2948_*3008delGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGA GTCAGGGTCAGATGGGAGTCAGTCAGA	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2873		chr20	TogoVar
FNIP2_chr4_158764026_158913050	158866736	TGGCTAAT others(54): Show TGGCTAATTTTTTGTATTTTTGGCAGAGACAGGGTTTCAGCATGTTGGCC AGGCTGGTCTCA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	254	0.0039	-61	c.146 others(80): Show c.1466-1365_1466-1305delGGCTAATTTTTTGTATTTTTGGCAGA GACAGGGTTTCAGCATGTTGGCCAGGCTGGTCTCA	FNIP2	ENSG00000052795.13	transcript	ENST00000264433.11	protein_coding	12/16			chr4	TogoVar
FRMD1_chr6_168048095_168084212	168070282	AGGAAGGA others(54): Show AGGAAGGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAGGAAGGAAGGAAA GAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	402	0.0025	-61	c.305 others(78): Show c.305-2897_305-2837delCTTCCTTCTTTCTTTCCTTCCTTCCTTC TTTCTTTCCTTCCTTCCTTCTTTCTTTCCTTCC	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	2/10			chr6	TogoVar
FSD1L_chr9_105443034_105557433	105485999	CCTTGAAT others(54): Show CCTTGAATATATGGTCAGTGACTTTAAAATACGATTGGAAAAACAAGTTA GTAGTTCTCACA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG02257.hp1 others(7): Show HG01255.hp2 HG01884.hp1 HG02257.hp1 HG02818.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0002t0021 a0001c0001t0012 a0001c0001t0013 a0001c0002t0021	a0001c0001t0012g0098 a0001c0001t0012g0099 a0001c0001t0012g0100 others(7): Show a0001c0001t0012g0098 a0001c0001t0012g0099 a0001c0001t0012g0100 a0001c0001t0012g0101 a0001c0001t0013g0094 a0001c0001t0013g0095 a0001c0001t0013g0096 a0001c0001t0013g0097 a0001c0002t0021g0316 a0001c0002t0021g0317	10	380	0.0263	-61	c.586 others(78): Show c.586+1500_586+1560delTGAATATATGGTCAGTGACTTTAAAATA CGATTGGAAAAACAAGTTAGTAGTTCTCACACT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSHR_chr2_48957157_49159515	49127837	TCTTCTTC others(54): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0134 a0003c0003t0001g0134	1	350	0.0029	-61	c.152 others(80): Show c.152+26368_152+26428delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49127838	CTTCTTCT others(54): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02055.hp2 others(9): Show HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03516.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0147 a0002c0002t0001g0167 a0003c0003t0001g0148 others(9): Show a0001c0001t0001g0147 a0002c0002t0001g0167 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0288 a0003c0003t0003g0155 a0003c0003t0003g0158	12	350	0.0343	-61	c.152 others(80): Show c.152+26367_152+26427delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FSTL5_chr4_161378897_162169000	161712750	GTTGCTTA others(54): Show GTTGCTTAAAAGAGCTTGACCCCTCACCTCTCTCTCTCTTTCTGAGTTCA CTGGAGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 HG03486.hp1 HG02258.hp2 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002	a0001c0001t0006g0142 a0001c0003t0001g0032 a0001c0003t0002g0008 a0001c0001t0006g0142 a0001c0003t0001g0032 a0001c0003t0002g0008	3	142	0.0211	-61	c.727 others(80): Show c.727+46600_727+46660delTGAGATCTCCAGTGAACTCAGAAAGA GAGAGAGAGGTGAGGGGTCAAGCTCTTTTAAGCAA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
GAD1_chr2_170811887_170866151	170828067	GTCCTCCC others(54): Show GTCCTCCCTCTGCTGTCCTCACCCCTCCTCCTTCTGCTGTCCTCCCTCTG CTGTCCTCACCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	412	0.0024	-61	c.146 others(78): Show c.146-1384_146-1324delCTCCTCCTTCTGCTGTCCTCCCTCTGCT GTCCTCACCCTCCTCCCTCTGCTGTCCTCACCC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GET4_chr7_871554_901436	886135	GTAAGCCG others(54): Show GTAAGCCGTCTTGCTTCCTCCTGCATCCCTTTCTGCTCCGGGCAGGCAAG TGGAGGTGGGAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	384	0.0026	-61	c.234 others(73): Show c.234+3_234+63delAAGCCGTCTTGCTTCCTCCTGCATCCCTTTCTG CTCCGGGCAGGCAAGTGGAGGTGGGAAT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGT5_chr22_24214660_24250082	24238777	ATAATATA others(54): Show ATAATATATATTATATATTTATATATATATAATATATTATATATATATAT ATATATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG02258.hp1 others(16): Show HG01346.hp2 HG01884.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02970.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA19240.hp1	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0009	a0003c0004 a0003c0010 a0006c0009 others(2): Show a0003c0004 a0003c0010 a0006c0009 a0007c0015 a0009c0031	a0003c0004t0003 a0003c0004t0004 a0003c0010t0004 others(3): Show a0003c0004t0003 a0003c0004t0004 a0003c0010t0004 a0006c0009t0001 a0007c0015t0003 a0009c0031t0003	a0003c0004t0003g0379 a0003c0004t0003g0382 a0003c0004t0003g0383 others(14): Show a0003c0004t0003g0379 a0003c0004t0003g0382 a0003c0004t0003g0383 a0003c0004t0003g0385 a0003c0004t0003g0386 a0003c0004t0003g0387 a0003c0004t0003g0388 a0003c0004t0004g0006 a0003c0004t0004g0372 a0003c0004t0004g0374 a0003c0004t0004g0375 a0003c0004t0004g0378 a0003c0010t0004g0376 a0006c0009t0001g0204 a0006c0009t0001g0205 a0007c0015t0003g0384 a0009c0031t0003g0381	19	420	0.0452	-61	c.174 others(78): Show c.174-4834_174-4774delATATAAATATATATATATATATATAATA TATTATATATATATAAATATATAATATATATTA	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar

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