Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VWF_chr12_5943877_6129670	5964234	A A	ACATGCAT others(37): Show ACATGCATGCATGCATGCATACATACATACATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG03540.hp2 HG02451.hp2 HG02922.hp1 HG03540.hp2	a0029 a0090 a0029 a0090	a0029c0025 a0090c0059 a0029c0025 a0090c0059	a0029c0025t0001 a0090c0059t0001 a0029c0025t0001 a0090c0059t0001	a0029c0025t0001g0178 a0029c0025t0001g0180 a0090c0059t0001g0131 a0029c0025t0001g0178 a0029c0025t0001g0180 a0090c0059t0001g0131	3	282	0.0106	44	c.788 others(63): Show c.7887+3251_7887+3252insCATGCATGCATGCATGTATGTATGTA TGCATGCATGCATGCATG	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	47/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(37): Show AGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0083 a0083	a0083c0050 a0083c0050	a0083c0050t0001 a0083c0050t0001	a0083c0050t0001g0008 a0083c0050t0001g0008	1	189	0.0053	44	c.657 others(61): Show c.657+2841_657+2842insACACTCTCTCTCTCTCTCTCTCTCACTC TCACTCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(37): Show AGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0036 a0036	a0036c0146 a0036c0146	a0036c0146t0001 a0036c0146t0001	a0036c0146t0001g0206 a0036c0146t0001g0206	1	189	0.0053	44	c.657 others(61): Show c.657+2841_657+2842insACACACACACTCTCTCTCTCTCTCACTC TCACTCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(37): Show AGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0019 a0019	a0019c0058 a0019c0058	a0019c0058t0001 a0019c0058t0001	a0019c0058t0001g0018 a0019c0058t0001g0018	1	189	0.0053	44	c.657 others(61): Show c.657+2841_657+2842insACACACACACACTCTCTCTCTCTCACTC TCACTCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6103422	G G	GTATACAC others(37): Show GTATACACGTGTGTATATACACACGTGTGTGTATACACGTGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 HG03516.hp2 HG02717.hp1 HG03130.hp1 HG03516.hp2	a0020 a0077 a0088 a0020 a0077 a0088	a0020c0019 a0077c0171 a0088c0170 a0020c0019 a0077c0171 a0088c0170	a0020c0019t0001 a0077c0171t0001 a0088c0170t0001 a0020c0019t0001 a0077c0171t0001 a0088c0170t0001	a0020c0019t0001g0154 a0077c0171t0001g0162 a0088c0170t0001g0163 a0020c0019t0001g0154 a0077c0171t0001g0162 a0088c0170t0001g0163	3	218	0.0138	44	c.532 others(61): Show c.532+6951_532+6952insTACACACGTGTATACACACACGTGTGTA TATACACACGTGTATA	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	5/51			chr12	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp2 HG03098.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0011 a0002c0001t0001 a0002c0001t0011	a0002c0001t0001g0261 a0002c0001t0011g0262 a0002c0001t0001g0261 a0002c0001t0011g0262	2	120	0.0167	44	c.733 others(59): Show c.733-259_733-258insAAAAAAAAAATATATATATATATATATATA TATATATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48923506	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	110	0.0091	44	c.758 others(65): Show c.7587-18293_7587-18292insATATATATATATATATATATATAT ATATATATGTATGTATATAT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	47/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDHD1_chr14_54933949_55032099	55003587	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	129	0.0078	44	c.601 others(61): Show c.601-1403_601-1402insTATATATATATATATATATATATATATA TATATATATATATATA	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	7/25			chr14	TogoVar
WDR27_chr6_169452212_169707029	169462490	G G	GAGAGAGA others(37): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0059 a0003c0002t0005g0059	1	281	0.0036	44	c.264 others(63): Show c.2646-4857_2646-4856insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCT	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	25/25			chr6	TogoVar
WDR33_chr2_127696027_127816171	127711780	A A	AGATATAT others(37): Show AGATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0024 a0001c0001t0017g0024	1	101	0.0099	44	c.330 others(63): Show c.3308+1802_3308+1803insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATC	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	18/21			chr2	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	108	0.0093	44	c.-40 others(61): Show c.-40-2726_-40-2725insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(37): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0180 a0001c0005t0008g0180	1	108	0.0093	44	c.-40 others(61): Show c.-40-2726_-40-2725insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR44_chrX_118341106_118454961	118368459	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0224 a0001c0003t0003g0224	1	103	0.0097	44	c.78- others(59): Show c.78-9938_78-9937insTATATATATATATATATATATATATATATA TATATATATATATA	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR45B_chr17_82609562_82653444	82648833	A A	AGGCGGGG others(37): Show AGGCGGGGCGGGGGGGAGGGGGAGGGGCGGGGGGGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG04228.hp2 NA19066.hp1 HG00673.hp1 HG04228.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0053 a0001c0002t0002g0066 a0001c0002t0002g0078 a0001c0001t0002g0053 a0001c0002t0002g0066 a0001c0002t0002g0078	3	146	0.0205	44	c.-49 others(53): Show c.-494_-493insCCTCCCCCTCCCCCCCCGCCCCTCCCCCTCCCCCCC GCCCCGCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		390		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648833	A A	AGGCGGGG others(37): Show AGGCGGGGCGGGGGGGGAGGGGGAGGGGCGGGGGGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 NA19002.hp2 others(2): Show HG00140.hp2 HG01123.hp2 NA19002.hp2 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0070 a0001c0002t0002g0091 others(2): Show a0001c0002t0002g0043 a0001c0002t0002g0070 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0217	5	148	0.0338	44	c.-49 others(53): Show c.-494_-493insCCTCCCCCTCCCCCCCGCCCCTCCCCCTCCCCCCCC GCCCCGCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		390		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648849	A A	AGGGGGAG others(37): Show AGGGGGAGGGGCGGGGCGGGGAGGAGGGGGAGGGGCGGGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG00408.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0312 a0001c0001t0001g0009 a0001c0001t0001g0312	2	377	0.0053	44	c.-51 others(53): Show c.-510_-509insCTCCTCCCCGCCCCTCCCCCTCCTCCCCGCCCCGCC CCTCCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		406		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648855	A A	AGGGGCGG others(37): Show AGGGGCGGGGCGGGGAGGAGGGGGAGGGGCGGGGAGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	377	0.0027	44	c.-51 others(53): Show c.-516_-515insCTCCCCCTCCTCCCCGCCCCTCCCCCTCCTCCCCGC CCCGCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		412		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648862	G G	GGGAGAGG others(37): Show GGGAGAGGAGGGGGGAGGGGCGGGGGAGGAGGGGGAGGGCGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	380	0.0026	44	c.-52 others(53): Show c.-523_-522insACCGCGCCCTCCCCCTCCTCCCCCGCCCCTCCCCCC TCCTCTCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		419		chr17	TogoVar
WDR59_chr16_74866362_74990123	74906313	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0118 a0001c0001t0056g0118	1	45	0.0222	44	c.171 others(63): Show c.1713-2214_1713-2213insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WDR59	ENSG00000103091.15	transcript	ENST00000262144.11	protein_coding	17/25			chr16	TogoVar
WDR70_chr5_37374318_37758435	37514356	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	220	0.0045	44	c.841 others(61): Show c.841-2155_841-2154insATATATATATATATATATATATATATAT ATATATATATATGTAT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR72_chr15_53508741_53764663	53515015	A A	ATATATAT others(37): Show ATATATATATATATACACACATATATATGTGTATATATATGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03041.hp2 others(1): Show HG02572.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0015 a0008c0012t0015	a0008c0012t0015g0003 a0008c0012t0015g0264 a0008c0012t0015g0265 others(1): Show a0008c0012t0015g0003 a0008c0012t0015g0264 a0008c0012t0015g0265 a0008c0012t0015g0266	4	243	0.0165	44	c.26 others(55): Show c.2683_*2684insCACACATATATATACACATATATATGTGTGTATA TATATATATA	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	20/20	2683		chr15	TogoVar
WDR72_chr15_53508741_53764663	53515049	A A	ATATGTGT others(37): Show ATATGTGTGTATATATATACACACATATATATGTGTATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0069 a0002c0001t0069	a0002c0001t0069g0212 a0002c0001t0069g0212	1	309	0.0032	44	c.26 others(55): Show c.2649_*2650insCATATATATACACATATATATGTGTGTATATATA TACACACATA	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	20/20	2649		chr15	TogoVar
WDR81_chr17_1719704_1743585	1740341	G G	GGGAAGGG others(37): Show GGGAAGGGCCTGATGCAGGGTAGTGAGGCGCAGGACAGTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0011 a0019c0051t0011	a0019c0051t0011g0015 a0019c0051t0011g0015	1	430	0.0023	44	c.26 others(55): Show c.2656_*2657insGGAAGGGCCTGATGCAGGGTAGTGAGGCGCAGGA CAGTGAGGGT	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1757		chr17	TogoVar
WDR86_chr7_151376124_151415038	151402070	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	236	0.0042	44	c.164 others(61): Show c.164-1830_164-1829insATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	1/5			chr7	TogoVar
WDR90_chr16_644365_672830	660998	C C	CCCGCCCG others(37): Show CCCGCCCGGCCTCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG03209.hp2 others(5): Show HG02559.hp1 HG02559.hp2 HG03209.hp2 HG03225.hp1 NA18945.hp1 NA18994.hp2 NA19064.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0007 others(2): Show a0002c0002 a0002c0005 a0002c0007 a0002c0010 a0002c0011	a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 others(2): Show a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001	a0002c0002t0001g0072 a0002c0002t0001g0100 a0002c0002t0001g0108 others(5): Show a0002c0002t0001g0072 a0002c0002t0001g0100 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0005t0001g0259 a0002c0007t0001g0163 a0002c0010t0001g0131 a0002c0011t0001g0109	8	366	0.0219	44	c.339 others(59): Show c.3392-52_3392-51insCGCCCGGCCTCAGGCCCCGCCCCCTGTTCG GCCCCTCCCCAGGC	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WDR90_chr16_644365_672830	660999	C C	CCCGCCCG others(37): Show CCCGCCCGGCCTCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02080.hp1 HG02145.hp2 others(3): Show HG01106.hp1 HG02080.hp1 HG02145.hp2 HG02896.hp1 NA19057.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0011 a0002c0002 a0002c0005 a0002c0011	a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 a0002c0002t0001 a0002c0005t0001 a0002c0011t0001	a0002c0002t0001g0023 a0002c0002t0001g0105 a0002c0002t0001g0139 others(3): Show a0002c0002t0001g0023 a0002c0002t0001g0105 a0002c0002t0001g0139 a0002c0002t0001g0143 a0002c0005t0001g0262 a0002c0011t0001g0023	6	270	0.0222	44	c.339 others(59): Show c.3392-52_3392-51insCCGCCCGGCCTCAGGCCCCGCCCCCTGTTC GGCCCCTCCCCAGG	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40			chr16	TogoVar
WDR90_chr16_644365_672830	661000	G G	GCCCGGCC others(37): Show GCCCGGCCTCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGGCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03579.hp1 NA20300.hp1 HG01106.hp2 HG03579.hp1 NA20300.hp1	a0002 a0025 a0002 a0025	a0002c0002 a0002c0004 a0025c0039 a0002c0002 a0002c0004 a0025c0039	a0002c0002t0001 a0002c0004t0001 a0025c0039t0001 a0002c0002t0001 a0002c0004t0001 a0025c0039t0001	a0002c0002t0001g0135 a0002c0004t0001g0091 a0025c0039t0001g0089 a0002c0002t0001g0135 a0002c0004t0001g0091 a0025c0039t0001g0089	3	258	0.0116	44	c.339 others(59): Show c.3392-48_3392-47insGGCCTCAGGCCCCGCCCCCTGTTCGGCCCC TCCCCAGGCCCCCC	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WFDC5_chr20_45104463_45120174	45116613	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024	3	271	0.0111	44	c.-15 others(55): Show c.-1531_-1530insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	WFDC5	ENSG00000175121.12	transcript	ENST00000372789.6	protein_coding		1440		chr20	TogoVar
WNK3_chrX_54187823_54363046	54347667	T T	TATATATA others(37): Show TATATATATATACACATATATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG06807.hp2 HG02809.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0153 a0002c0002t0002g0154	2	150	0.0133	44	c.-12 others(64): Show c.-120+9975_-120+10018dupGTGTATATATATATGTGTATATATA TATATGTGTATATATATAT	WNK3	ENSG00000196632.12	transcript	ENST00000354646.7	protein_coding	1/23			chrX	TogoVar
WRN_chr8_31028810_31181138	31174795	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02258.hp2 HG03239.hp2 HG02165.hp2 HG02258.hp2 HG03239.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0005c0012 a0001c0001 a0005c0008 a0005c0012	a0001c0001t0024 a0005c0008t0024 a0005c0012t0064 a0001c0001t0024 a0005c0008t0024 a0005c0012t0064	a0001c0001t0024g0210 a0005c0008t0024g0213 a0005c0012t0064g0257 a0001c0001t0024g0210 a0005c0008t0024g0213 a0005c0012t0064g0257	3	176	0.0170	44	c.17 others(55): Show c.1720_*1721insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	WRN	ENSG00000165392.11	transcript	ENST00000298139.7	protein_coding	35/35	1721	INFO_REALIGN_3_PRIME	chr8	TogoVar
WWC1_chr5_168286645_168477303	168339806	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0067 a0002c0014t0007g0067	1	116	0.0086	44	c.120 others(63): Show c.120-31591_120-31590insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	WWC1	ENSG00000113645.15	transcript	ENST00000265293.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
WWOX_chr16_78094654_79217667	78144490	C C	CGTATATA others(37): Show CGTATATATATATATATATATATATACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	121	0.0083	44	c.410 others(63): Show c.410-19693_410-19692insGTATATATATATATATATATATATAC ACACATATATATATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	4/8			chr16	TogoVar
WWOX_chr16_78094654_79217667	78859048	A A	ATATATAT others(37): Show ATATATATATATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	134	0.0075	44	c.105 others(67): Show c.1057-352559_1057-352558insATATATATATGTATATATATAT ATATATATATATATATATATGT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78930225	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	141	0.0071	44	c.105 others(67): Show c.1057-281342_1057-281341insTGACCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78930229	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0094 a0016c0015t0001g0094	1	140	0.0071	44	c.105 others(67): Show c.1057-281339_1057-281338insCTGACCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XDH_chr2_31329321_31419742	31329546	A A	AGGCATGT others(37): Show AGGCATGTCCTTTCCCCTGGATTCTGAGACCAAGATGGAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	368	0.0027	44	c.64 others(55): Show c.6411_*6412insCATCCCTCCATCTTGGTCTCAGAATCCAGGGGAA AGGACATGCC	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding		4774		chr2	TogoVar
XG_chrX_2747040_2821500	2817102	A A	AGACAGAG others(37): Show AGACAGAGAGGGAGGGAGGGAGGGAGAGACAGAGAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	164	0.0061	44	c.27 others(55): Show c.2722_*2723insGACAGAGAGGGAGGGAGGGAGGGAGAGACAGAGA GGGAGGGAGG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding		603		chrX	TogoVar
XIAP_chrX_123855053_123918972	123899155	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATGATTTTATATATATGATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0239 a0001c0001t0005g0239	1	194	0.0052	44	c.110 others(63): Show c.1100-1327_1100-1326insATATATATATATATGATTTTATATAT ATGATTTTATATATATAT	XIAP	ENSG00000101966.14	transcript	ENST00000371199.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
XKR4_chr8_55097028_55547054	55247835	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18970.hp1 NA18949.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0121 a0001c0001t0103 a0001c0001t0121	a0001c0001t0103g0073 a0001c0001t0121g0063 a0001c0001t0103g0073 a0001c0001t0121g0063	2	161	0.0124	44	c.807 others(65): Show c.807-109820_807-109819insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
XKR7_chr20_31963151_32008387	31986058	A A	ACACAGAC others(37): Show ACACAGACAGACAGACAGACCACTAAACAGATCCAGTATCCAAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG06807.hp2 HG01934.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0097 a0001c0001t0001g0098	2	302	0.0066	44	c.585 others(61): Show c.585-8995_585-8994insAGACCACTAAACAGATCCAGTATCCAAG GCACAGACAGACAGAC	XKR7	ENSG00000260903.3	transcript	ENST00000562532.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
XKRX_chrX_100908445_100933917	100917674	A A	AAAGAAAA others(37): Show AAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	60	0.0167	44	c.605 others(61): Show c.605-2592_605-2591insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTT	XKRX	ENSG00000182489.9	transcript	ENST00000372956.3	protein_coding	2/2			chrX	TogoVar
XKRX_chrX_100908445_100933917	100917674	A A	AAAGAAAG others(37): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	60	0.0167	44	c.605 others(61): Show c.605-2592_605-2591insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTT	XKRX	ENSG00000182489.9	transcript	ENST00000372956.3	protein_coding	2/2			chrX	TogoVar
XRCC4_chr5_83072547_83358760	83103025	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20300.hp2 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	255	0.0078	44	c.-10 others(61): Show c.-10-1879_-10-1878insATATATATATATATATATATATATATAT ATATACATACATATAT	XRCC4	ENSG00000152422.16	transcript	ENST00000396027.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
XRCC6_chr22_41616295_41669041	41649139	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	93	0.0108	44	c.961 others(61): Show c.961-1583_961-1582insAAAAAAAAAATATATATATATATATATA TATATATATATATATA	XRCC6	ENSG00000196419.13	transcript	ENST00000360079.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
XRCC6_chr22_41616295_41669041	41649139	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18982.hp2 NA18984.hp1 others(3): Show NA18969.hp1 NA18982.hp2 NA18984.hp1 NA19000.hp2 NA19074.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0073 others(3): Show a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0081 a0002c0003t0002g0061	6	98	0.0612	44	c.961 others(61): Show c.961-1583_961-1582insAATATATATATATATATATATATATATA TATATATATATATATA	XRCC6	ENSG00000196419.13	transcript	ENST00000360079.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
XYLB_chr3_38341785_38419985	38419603	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18942.hp1 NA18998.hp1 others(3): Show HG00738.hp1 NA18942.hp1 NA18998.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0008 a0001c0001t0001g0241 a0001c0001t0001g0296 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0241 a0001c0001t0001g0296 a0001c0001t0004g0197 a0002c0002t0001g0046 a0002c0002t0004g0128	6	221	0.0271	44	c.65 others(55): Show c.6590_*6591insATATATATATATATATATATATATATATATATAT ATATATATAA	XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding		4619		chr3	TogoVar
XYLT1_chr16_17096769_17475960	17098076	C C	CACATATA others(37): Show CACATATATGTGTATACATATGTGTATACACATATATGTGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG02040.hp2 HG01515.hp1 HG02040.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0027 a0001c0001 a0009c0027	a0001c0001t0003 a0009c0027t0031 a0001c0001t0003 a0009c0027t0031	a0001c0001t0003g0033 a0009c0027t0031g0008 a0001c0001t0003g0033 a0009c0027t0031g0008	2	129	0.0155	44	c.10 others(57): Show c.10618_*10619insATATACACATATATGTGTATACACATATGTAT ACACATATATGT	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding		3692		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17098076	C C	CACATATA others(37): Show CACATATATGTGTATACATATGTGTATATACATATATGTGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01069.hp1 others(21): Show HG00140.hp1 HG00735.hp1 HG01069.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02083.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03669.hp1 HG03669.hp2 HG04204.hp2 NA18941.hp2 NA19240.hp2 NA20905.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0001c0002 a0001c0022 others(2): Show a0001c0001 a0001c0002 a0001c0022 a0005c0016 a0015c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0030 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0071 a0001c0001t0098 a0001c0002t0001 a0001c0002t0097 a0001c0022t0001 a0005c0016t0059 a0015c0026t0003	a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0065 others(21): Show a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0018g0105 a0001c0001t0021g0132 a0001c0001t0021g0138 a0001c0001t0022g0003 a0001c0001t0027g0016 a0001c0001t0030g0018 a0001c0001t0056g0085 a0001c0001t0057g0064 a0001c0001t0058g0098 a0001c0001t0071g0115 a0001c0001t0098g0149 a0001c0002t0001g0049 a0001c0002t0001g0070 a0001c0002t0097g0150 a0001c0022t0001g0066 a0005c0016t0059g0069 a0015c0026t0003g0030	24	151	0.1589	44	c.10 others(57): Show c.10618_*10619insATATACACATATATGTATATACACATATGTAT ACACATATATGT	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding		3692		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17098076	C C	CACATATA others(37): Show CACATATATGTGTATACATATGTGTATATACATATATGTGTGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	128	0.0078	44	c.10 others(57): Show c.10618_*10619insATACACACATATATGTATATACACATATGTAT ACACATATATGT	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding		3692		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17098211	G G	GTGTGTGT others(37): Show GTGTGTGTATATATGTATATACATATATATGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0026 a0006c0012t0003g0026	1	154	0.0065	44	c.10 others(57): Show c.10483_*10484insTATATATATACACACATATATATGTATATACA TATATACACACA	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding		3557		chr16	TogoVar

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