Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
THOC1_chr18_209520_273047	219242	G G	GTGGGCAT others(184): Show GTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGATGGCATA TACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGG CATGTGTTCCCTGAGCGGTACAAAAATAACCAGTGAGGATGGCATATACT CTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	367	0.0027	191	c.137 others(208): Show c.1371-274_1371-273insGAATCTTGTCCTGCCACCACTTTATGAG TATTTATTATTAAGAGTATATGCCATCCTCACTGGTTATTTTTGTACCGC TCAGGGAACACATGCCCACAATCTTGTCCTGCCACCACTTTATGAGTATT TATTATTAAGAGTATATGCCATCCTCACTGGTTATTTTGTACCGCTCAGG GAACACATGCCCA		THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20						chr18	TogoVar
THOC1_chr18_209520_273047	219265	T T	TACAAAAT others(184): Show TACAAAATAACCAGTGAGGACGGCATATACTCTTAATAATAAATACTCAT AAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAA AAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAG TGGTGGCAGGACAAGATTCTGGGCATGTGTTCCCTGAGCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02257.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	373	0.0054	191	c.137 others(208): Show c.1371-297_1371-296insGCCGCTCAGGGAACACATGCCCAGAATC TTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATC CTCACTGGTTATTTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGT CCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCGTCCTCA CTGGTTATTTTGT		THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20						chr18	TogoVar
TMCC1_chr3_129642792_129898711	129760040	T T	TAATAGAT others(184): Show TAATAGATTTTATTTTTCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0195 a0001c0001t0025g0195	1	254	0.0039	191	c.576 others(210): Show c.576+67762_576+67763insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGA AAAATAAAATCTATT		TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6						chr3	TogoVar
TMEM207_chr3_190423655_190454901	190439033	C C	CGGGCGCG others(184): Show CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG TGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0061 a0002c0002t0007g0061	1	463	0.0022	191	c.304 others(208): Show c.304+1210_304+1211insAGCTAATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCC		TMEM207	ENSG00000198398.3	transcript	ENST00000354905.3	protein_coding	4/4						chr3	TogoVar
TMPRSS2_chr21_41459305_41513158	41474785	T T	TGAGGGGG others(184): Show TGAGGGGGTGAAGGCGTGAGTGAGGAGGTGAGGGGATGAGTGAGGGGGTG AGGGGGTGAGGGGATGAGTGAGGGGGTGAGGGGGTGAGGGGATGAGTGAG GGGGTGAGGGGGTGAGGGGATGAGTGAGGGGGTGAGGGGGTGAGGGGATG AGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0185 a0002c0003t0004g0185	1	313	0.0032	191	c.728 others(208): Show c.728-1290_728-1289insCCTCGCCCCCTCACTCACCCCTCACCCC CTCACCCCCTCACTCATCCCCTCACCCCCTCACCCCCTCACTCATCCCCT CACCCCCTCACCCCCTCACTCATCCCCTCACCCCCTCACCCCCTCACTCA TCCCCTCACCCCCTCACCCCCTCACTCATCCCCTCACCTCCTCACTCACG CCTTCACCCCCTC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMPRSS6_chr22_37060436_37114713	37097784	T T	TGGGCCAC others(184): Show TGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAAC GGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGC CACCGTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAG GGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	139	0.0072	191	c.336 others(206): Show c.336+631_336+632insGCCCCTCCCCCTCCGTTACAGGACGGTGGC CCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTGCCCCTCCGT TACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGC TCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCC		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17						chr22	TogoVar
TMTC1_chr12_29495840_29788942	29663692	C C	CTTTTTTT others(184): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02559.hp2 HG02717.hp2 others(3): Show HG01256.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(3): Show a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0002c0027	a0001c0002t0060 a0001c0005t0001 a0001c0006t0013 others(3): Show a0001c0002t0060 a0001c0005t0001 a0001c0006t0013 a0001c0010t0001 a0001c0015t0002 a0002c0027t0082	a0001c0002t0060g0169 a0001c0005t0001g0103 a0001c0006t0013g0015 others(3): Show a0001c0002t0060g0169 a0001c0005t0001g0103 a0001c0006t0013g0015 a0001c0010t0001g0054 a0001c0015t0002g0117 a0002c0027t0082g0269	6	244	0.0246	191	c.939 others(210): Show c.939-30357_939-30356insATACAAAAAATTAGCCGGGCGTGGTG GTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17						chr12	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATAACAT others(184): Show TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19077.hp1 HG03688.hp1 NA19077.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0009 a0007c0008t0061 a0001c0001t0009 a0007c0008t0061	a0001c0001t0009g0124 a0007c0008t0061g0044 a0001c0001t0009g0124 a0007c0008t0061g0044	2	88	0.0227	191	c.41- others(208): Show c.41-49245_41-49244insAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAACAT		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL10_chr1_1168880_1202936	1176170	A A	AGCTGGAG others(184): Show AGCTGGAGAGAGGCTGACGCTGTACAGCTGGAGAGACTGCTGCTCCCAGC CGCTGTGCAGGTGGAGAGAGGCTGACGCTGTGCAGGTGGAGAGAGGCTGA CGCTGTGCAGGTGGAGAGAGGCTGCCGCTGTGCCGGTGGAGAGGCTGCTG CTCCCAGCCGCTGTGCAGGTGGAGAGAGGCTGACGCTGTGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02258.hp2 others(7): Show HG01243.hp2 HG02258.hp1 HG02258.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2	a0001 a0005 a0028 a0001 a0005 a0028	a0001c0003 a0001c0024 a0001c0035 others(3): Show a0001c0003 a0001c0024 a0001c0035 a0005c0010 a0005c0012 a0028c0036	a0001c0003t0003 a0001c0024t0003 a0001c0024t0006 others(4): Show a0001c0003t0003 a0001c0024t0003 a0001c0024t0006 a0001c0035t0007 a0005c0010t0003 a0005c0012t0003 a0028c0036t0001	a0001c0003t0003g0020 a0001c0024t0003g0070 a0001c0024t0006g0073 others(6): Show a0001c0003t0003g0020 a0001c0024t0003g0070 a0001c0024t0006g0073 a0001c0035t0007g0075 a0005c0010t0003g0020 a0005c0012t0003g0019 a0005c0012t0003g0072 a0005c0012t0003g0074 a0028c0036t0001g0071	10	380	0.0263	191	c.-28 others(208): Show c.-28+1682_-28+1683insCTGGAGAGAGGCTGACGCTGTACAGCTG GAGAGACTGCTGCTCCCAGCCGCTGTGCAGGTGGAGAGAGGCTGACGCTG TGCAGGTGGAGAGAGGCTGACGCTGTGCAGGTGGAGAGAGGCTGCCGCTG TGCCGGTGGAGAGGCTGCTGCTCCCAGCCGCTGTGCAGGTGGAGAGAGGC TGACGCTGTGCGG		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23042142	C C	CTGTGGGG others(184): Show CTGTGGGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGGTCA TAATCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGC CGGAGGTGCCGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGG TGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA19079.hp2 HG00544.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0127 a0001c0002t0002g0018 a0001c0002t0002g0127	2	341	0.0059	191	c.-26 others(202): Show c.-2600_-2599insAGCACCTCTGGCCAGGTGACATTTATGAAGTCAC CCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCGG CACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGG TGGGATTATGACCCCCCCAGCACCTCTGGCCAGGTGGGGTTATAATACCC CCCCACA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2574		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042142	C C	CTGTGGGG others(184): Show CTGTGGGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGGTCA TAATCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGC CGGAGGTGCCGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCTAGAGG TGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	340	0.0029	191	c.-26 others(202): Show c.-2600_-2599insAGCACCTCTGGCCAGGTGACATTTATGAAGTCAC CCCCAGCACCTCTAGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCGG CACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGG TGGGATTATGACCCCCCCAGCACCTCTGGCCAGGTGGGGTTATAATACCC CCCCACA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2574		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870236	A A	ACACCCTA others(184): Show ACACCCTACACACCCCACACACACCACACACCACACACACCCCACACACA CCACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	328	0.0030	191	c.35 others(210): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATA CACACCACACCCCAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870452	C C	CACCCCAC others(184): Show CACCCCACACACACCACACCCCATACACACCACACACACCACACACACCA CACCCCACACACACCACACACCCCACCACACATCACAACCACACACACAC CACACCCCATACACACCACACACACCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACCCACACCCCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	324	0.0031	191	c.35 others(210): Show c.35+21721_*35+21722insCCCACACACACCACACCCCATACACA CCACACACACCACACACACCACACCCCACACACACCACACACCCCACCAC ACATCACAACCACACACACACCACACCCCATACACACCACACACACCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACCCACACCCCAAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
USP14_chr18_153557_219629	219172	C C	CAAAATAA others(184): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTAAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	24	0.0417	191	c.78 others(202): Show c.7888_*7889insAAAATAACCAGTGAGGATGGCATATACTCTTAAT AATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCC CTAAGCGGTACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAA ATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAG CGGTACA		USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding					4544		chr18	TogoVar
USP14_chr18_153557_219629	219172	C C	CAAAATAA others(184): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0016 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0055 a0001c0003t0002 a0001c0004t0026 a0001c0004t0050 a0001c0004t0051 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(226): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0180 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0169 a0001c0001t0003g0174 a0001c0001t0003g0231 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0022 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0178 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0004g0207 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0050 a0001c0001t0005g0176 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0189 a0001c0001t0005g0192 a0001c0001t0005g0195 a0001c0001t0005g0199 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0006g0187 a0001c0001t0006g0197 a0001c0001t0007g0017 a0001c0001t0007g0052 a0001c0001t0007g0182 a0001c0001t0007g0196 a0001c0001t0008g0023 a0001c0001t0008g0054 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0008g0208 a0001c0001t0010g0006 a0001c0001t0010g0201 a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0013g0010 a0001c0001t0013g0015 a0001c0001t0013g0125 a0001c0001t0015g0012 a0001c0001t0015g0053 a0001c0001t0015g0186 a0001c0001t0015g0193 a0001c0001t0018g0021 a0001c0001t0018g0022 a0001c0001t0018g0024 a0001c0001t0019g0029 a0001c0001t0021g0006 a0001c0001t0021g0179 a0001c0001t0021g0200 a0001c0001t0023g0070 a0001c0001t0023g0148 a0001c0001t0024g0147 a0001c0001t0024g0156 a0001c0001t0025g0085 a0001c0001t0025g0086 a0001c0001t0027g0210 a0001c0001t0027g0211 a0001c0001t0028g0177 a0001c0001t0028g0205 a0001c0001t0029g0006 a0001c0001t0029g0183 a0001c0001t0030g0016 a0001c0001t0031g0016 a0001c0001t0041g0002 a0001c0001t0042g0015 a0001c0001t0044g0079 a0001c0001t0045g0149 a0001c0001t0046g0037 a0001c0001t0047g0137 a0001c0001t0048g0005 a0001c0001t0049g0209 a0001c0001t0052g0206 a0001c0001t0053g0190 a0001c0001t0054g0061 a0001c0002t0001g0059 a0001c0002t0006g0020 a0001c0002t0006g0046 a0001c0002t0006g0136 a0001c0002t0006g0160 a0001c0002t0006g0166 a0001c0002t0006g0167 a0001c0002t0012g0158 a0001c0002t0012g0159 a0001c0002t0012g0161 a0001c0002t0012g0162 a0001c0002t0012g0164 a0001c0002t0016g0044 a0001c0002t0016g0045 a0001c0002t0016g0165 a0001c0002t0032g0163 a0001c0002t0033g0168 a0001c0002t0034g0157 a0001c0002t0035g0044 a0001c0002t0036g0232 a0001c0002t0055g0233 a0001c0003t0002g0001 a0001c0003t0002g0018 a0001c0003t0002g0027 a0001c0003t0002g0057 a0001c0003t0002g0222 a0001c0004t0026g0007 a0001c0004t0026g0188 a0001c0004t0050g0007 a0001c0004t0051g0007 a0001c0005t0001g0067 a0002c0006t0001g0002	329	352	0.9347	191	c.78 others(202): Show c.7888_*7889insAAAATAACCAGTGAGGATGGCATATACTCTTAAT AATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCC CTGAGCGGTACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAA ATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAG CGGTACA		USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding					4544		chr18	TogoVar
USP14_chr18_153557_219629	219172	C C	CAAAATAA others(184): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTGCAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	24	0.0417	191	c.78 others(202): Show c.7888_*7889insAAAATAACCAGTGAGGATGGCATATACTCTTAAT AATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCC CTGAGCGGTGCAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAA ATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAG CGGTACA		USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding					4544		chr18	TogoVar
USP14_chr18_153557_219629	219242	G G	GTGGGCAT others(184): Show GTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGACGGCATA TACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGG CATGTGTTCCCTGAGCGGTACAAAAATAACCAGTGAGGATGGCATATACT CTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02717.hp1 others(4): Show HG02109.hp2 HG02280.hp1 HG02717.hp1 HG02818.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0060 a0001c0001t0011g0236 a0001c0001t0011g0237 others(1): Show a0001c0001t0011g0060 a0001c0001t0011g0236 a0001c0001t0011g0237 a0001c0001t0017g0030	7	377	0.0186	191	c.79 others(202): Show c.7958_*7959insTGGGCATGTGTTCCCTGAGCGGTACAAAATAACC AGTGAGGACGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCA GGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAAATAACCAGTG AGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGAC AAGATTC		USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding					4614		chr18	TogoVar
USP14_chr18_153557_219629	219242	G G	GTGGGCAT others(184): Show GTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGATGGCATA TACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGG CATGTGTTCCCTGAGCGGTACAAAAATAACCAGTGAGGATGGCATATACT CTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0235 a0001c0001t0017g0235	1	371	0.0027	191	c.79 others(202): Show c.7958_*7959insTGGGCATGTGTTCCCTGAGCGGTACAAAATAACC AGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCA GGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAAATAACCAGTG AGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGAC AAGATTC		USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding					4614		chr18	TogoVar
USP14_chr18_153557_219629	219265	T T	TACAAAAT others(184): Show TACAAAATAACCAGTGAGGACGGCATATACTCTTAATAATAAATACTCAT AAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAA AAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAG TGGTGGCAGGACAAGATTCTGGGCATGTGTTCCCTGAGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0047 a0001c0001t0037g0047 a0001c0001t0011g0047 a0001c0001t0037g0047	2	377	0.0053	191	c.79 others(202): Show c.7981_*7982insACAAAATAACCAGTGAGGACGGCATATACTCTTA ATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTT CCCTGAGCGGTACAAAAATAACCAGTGAGGATGGCATATACTCTTAATAA TAAATACTCATAAAGTGGTGGCAGGACAAGATTCTGGGCATGTGTTCCCT GAGCGGC		USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding					4637		chr18	TogoVar
VCX3A_chrX_6528618_6540118	6533573	T T	TCCCTCCC others(184): Show TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCGCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCCCCCCACACACCACCTCTTCCTCCCTCCCTCCCCCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0015 a0005c0007t0015	a0005c0007t0015g0043 a0005c0007t0015g0043	1	64	0.0156	191	c.17 others(200): Show c.171_*172insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGC GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					44		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGGGAGGG others(184): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	184	0.0054	191	c.71 others(200): Show c.713_*714insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					587		chrX	TogoVar
VPS53_chr17_503668_719839	618993	T T	TGCTAATA others(184): Show TGCTAATATTTCCCAGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCT AATATTTCCCGGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCTAATA TTTCCTGGGTAGCTAGGACTACACGTGTGCACCACCACACCTGCTAATAT TTTCCGGGTAGCTGGGACTACAGGCATGCACCACCACGCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18950.hp1 NA18961.hp1 others(1): Show HG00423.hp2 NA18950.hp1 NA18961.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0091 a0001c0001t0015 a0001c0001t0091	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(1): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0091g0129	4	230	0.0174	191	c.111 others(210): Show c.1116+4539_1116+4540insGGGGCGTGGTGGTGCATGCCTGTAGT CCCAGCTACCCGGAAAATATTAGCAGGTGTGGTGGTGCACACGTGTAGTC CTAGCTACCCAGGAAATATTAGCAGGCGTCGTGGGCACCTGTAGTCCCAG CTACCCGGGAAATATTAGCAGGCGTCGTGGGCACCTGTAGTCCCAGCTAC CTGGGAAATATTAGC		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21						chr17	TogoVar
VSIG4_chrX_66016738_66045080	66042723	T T	TGCACCAG others(184): Show TGCACCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	216	0.0046	191	c.-27 others(202): Show c.-2726_-2725insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CTGGTGC		VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding					2644		chrX	TogoVar
XG_chrX_2747040_2821500	2773486	G G	GGAAGGAA others(184): Show GGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAAGAAGGGAGGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	290	0.0034	191	c.104 others(208): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAAGAAGGGAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAG		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(184): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATATTATATATAATATATATATTATATATAATATAT ATATTATATATAATATTTATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19006.hp1 NA19063.hp1 others(1): Show NA18946.hp1 NA19006.hp1 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0010g0186	4	35	0.1143	191	c.69+ others(208): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATATTATATATAATATATATATTATATATAATA TATATATTATATATAATATTTATATATTATATATAATATTTATATATTAT ATATAATATTTAT		XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(184): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATTATATATAATATTTATATATTATATATAATATAT ATATTATATATAATATTTATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01928.hp2 others(7): Show HG01106.hp1 HG01243.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02293.hp1 HG02300.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0152 a0001c0001t0001g0177 others(7): Show a0001c0001t0001g0101 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200	10	41	0.2439	191	c.69+ others(208): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATTATATATAATATTTATATATTATATATAATA TATATATTATATATAATATTTATATATTATATATAATATTTATATATTAT ATATAATATTTAT		XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(184): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATATA ATATATATTATATATATTTTATATATATAATATATATTATATATATTTTA TATATATAATATATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19089.hp1 NA18942.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0096 a0001c0001t0001g0022 a0001c0001t0001g0096	2	233	0.0086	191	c.125 others(206): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATATAATATATATTATATATATAAAATATAT ATAATATATATTTTATATATAAAATATATATAATATATATTTTATATATA AAATATATATA		ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3						chr19	TogoVar
ZNF365_chr10_62369369_62407450	62371016	C C	CATATGTG others(184): Show CATATGTGATATATATGATACATATGACATATATCATATGTGATACATAT GACATATATCATATGTGATACATATGACATATATCATATGTGATACATAT GACATATATCATATGTGATACATATGACATATATCATATGTGATATATGT CACATATATCATATGTGATATATGTCACATATATCATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	333	0.0030	191	c.-34 others(202): Show c.-3456_-3455insATATGTGATATATATGATACATATGACATATATC ATATGTGATACATATGACATATATCATATGTGATACATATGACATATATC ATATGTGATACATATGACATATATCATATGTGATACATATGACATATATC ATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATATC ATATGTG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3352		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(184): Show CATATATATGATATATATATCATATATATGATATATATCTCATATATATA TCATATATATGATATATATCTCATATATATATCATATATATGATATATAT CTCATATATATCATATATATGAGATATATCTCATATATATCATATATATG ATATATATCTCATATCTATCATATATATGATATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	206	0.0049	191	c.-31 others(202): Show c.-3163_-3162insATATATATGATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATATATCAT ATATATGATATATATCTCATATATATCATATATATGAGATATATCTCATA TATATCATATATATGATATATATCTCATATCTATCATATATATGATATAT ATCTCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATC others(184): Show CATATATCTCATATATATATCATATATATGATATATATCTCATATATATA TCATATATATGATATATATCTCATATATATCATATATATGAGATATATCT CATATATATCATATATATGATATATATCTCATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	206	0.0049	191	c.-31 others(202): Show c.-3163_-3162insATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATATCATAT ATATGAGATATATCTCATATATATCATATATATGATATATATCTCATATA TATCATATATATGATATATATCTCATATATATATCATATATATGATATAT ATCTCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATC others(184): Show CATATATCTCATATATATATCATATATATGATATATATCTCATATATATA TCATATATATGATATATATCTCATATATATCATATATATGAGATATATCT CATATATATCATATATATGATATATATCTCATATATATCATATATATGAT ATATATCTCATATATCTATCATATATATGATATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	2	207	0.0097	191	c.-31 others(202): Show c.-3163_-3162insATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATATCATAT ATATGAGATATATCTCATATATATCATATATATGATATATATCTCATATA TATCATATATATGATATATATCTCATATATCTATCATATATATGATATAT ATCTCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3059		chr10	TogoVar
ZNF639_chr3_179318031_179343583	179341870	C C	CTTTTTTT others(184): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCGC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG02615.hp2 HG01169.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0040 a0001c0001t0016g0101 a0001c0001t0016g0040 a0001c0001t0016g0101	2	408	0.0049	191	c.74 others(202): Show c.7448_*7449insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCAATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAAT		ZNF639	ENSG00000121864.10	transcript	ENST00000496856.6	protein_coding					3288		chr3	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATCCTTCC others(184): Show ATCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01981.hp1 HG01074.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	288	0.0069	191	c.-31 others(202): Show c.-3153_-3152insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGA		ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding					3011		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326654	T T	TCACCCTC others(184): Show TCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAG CCTCACACAGGCACCCTCAGCCCTCACACAGGCACCCTCAGCTCTCACAC AGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCC TCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	288	0.0035	191	c.-51 others(200): Show c.-512_-511insCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACA CAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGGCACCC TCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCT CACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCAC ACAGG		ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding					339		chr19	TogoVar
ABCB7_chrX_75046048_75161283	75140530	A A	AAAGAGAT others(185): Show AAAGAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02559.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0224 a0001c0003t0011g0226 a0001c0003t0011g0224 a0001c0003t0011g0226	2	223	0.0090	192	c.168 others(211): Show c.168+15574_168+15575insAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGATCTCTT		ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15						chrX	TogoVar
ABTB2_chr11_34145987_34363010	34343644	C C	CTGTATTT others(185): Show CTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	238	0.0042	192	c.883 others(211): Show c.883+13056_883+13057insAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAATACA		ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16						chr11	TogoVar
ACAP3_chr1_1287391_1312930	1289299	T T	TCCCCCGT others(185): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	257	0.0039	192	c.42 others(203): Show c.4264_*4265insGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3091		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289579	T T	TCCCCCGT others(185): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	244	0.0041	192	c.39 others(203): Show c.3984_*3985insGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2811		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54579316	C C	CTTATTTT others(185): Show CTTATTTTTTTTTATTTTTATTATTTATTTTTATTTTTTTATTTTTATTA TTTTTTTTTTTTATTATTTTTTAATATTTTTTTTTTTATATTTTTTTTTT TTTTTTTTTTATTATTTTTATTTTTTTATTTTATTTATTTTTTTTTTATT TATTTTTATTTTTATATATTTTATTGATCTGATTAATCTTCTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	386	0.0026	192	c.34- others(207): Show c.34-5333_34-5332insTTTTTTATTTTTATTATTTATTTTTATTTT TTTATTTTTATTATTTTTTTTTTTTATTATTTTTTAATATTTTTTTTTTT ATATTTTTTTTTTTTTTTTTTTTATTATTTTTATTTTTTTATTTTATTTA TTTTTTTTTTATTTATTTTTATTTTTATATATTTTATTGATCTGATTAAT CTTCTTTTATTT		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT1_chr14_73532143_73548796	73546924	T T	TAAAAATA others(185): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03710.hp1 HG01361.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	128	0.0156	192	c.32 others(203): Show c.3269_*3270insAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCC AGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		ACOT1	ENSG00000184227.8	transcript	ENST00000311148.9	protein_coding					3129		chr14	TogoVar
ACSF2_chr17_50421218_50479837	50476222	G G	GCAGCGCG others(185): Show GCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCC AGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAG CGCGGCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCG CGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0218	1	311	0.0032	192	c.16 others(203): Show c.1670_*1671insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCGCAGCGCGGCTGCCCCCTTACCTCCCAGCGCGCCTGCCC CCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCC TTACCTCC		ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding					1386		chr17	TogoVar
ACSL1_chr4_184750595_184830968	184826087	C C	CCGGCCCC others(185): Show CCGGCCCCGCCCTCCCGCGGCCCCGCCCTCCCGCGGCCCCGCCCTCCCGC GGCCCCGCCCTCCCGCGGCCCCGCCCTCCCGCGGCCCCGCCCTCCCGCGG CCCCGCCCTCCCGCGGCCCCGCCCTCCCGCGGCCCCGCCCTCCCGCGGCC CCGCCCTCCCGCGGCCCCGCCCTCCCGCGGCCCCGCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	252	0.0040	192	c.-20 others(201): Show c.-205_-204insCGGGAGGGCGGGGCCGCGGGAGGGCGGGGCCGCGGG AGGGCGGGGCCGCGGGAGGGCGGGGCCGCGGGAGGGCGGGGCCGCGGGAG GGCGGGGCCGCGGGAGGGCGGGGCCGCGGGAGGGCGGGGCCGCGGGAGGG CGGGGCCGCGGGAGGGCGGGGCCGCGGGAGGGCGGGGCCGCGGGAGGGCG GGGCCG		ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding					120		chr4	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAG others(185): Show ATATATAGTATATACATATAGTATATACTATATATAGTATATATAGTATA TATAGTATATATATACTATATATACTATATATAGTATATACTATATATAC TATATATACTATATATAGTATATACTATATATACTATATATAGTATATAC TATATATACTATATATAGTATATACTATATATACTATATATAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0263 a0001c0002t0004g0263	1	157	0.0064	192	c.-8- others(207): Show c.-8-1848_-8-1847insCTATATATAGTATATATAGTATATACTATA TATAGTATATATAGTATATACTATATATAGTATATATAGTATATACTATA TATAGTATATATAGTATATATAGTATATACTATATATAGTATATATAGTA TATATATACTATATATACTATATATACTATATATAGTATATACTATATGT ATATACTATATA		ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13						chr16	TogoVar
ADARB2_chr10_1172313_1742525	1239913	T T	TCTGTCTC others(185): Show TCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGTCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0072 a0001c0001t0036g0072	1	90	0.0111	192	c.136 others(211): Show c.1361+2217_1361+2218insGGGGGAGTAAACACCGGGAGGCAGAG GGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGGAGAGGG GAGTAAACACCGGGAGGCAGGGGGGAGTAAACACCGGGAGGCAGAGGGGA GTAAACACCGGGAGACAGAGGGGAGTAAACACCGGGAGGGAGAGGGGAGT AAACACCGGGAGACAG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133136631	C C	CTGGTCTC others(185): Show CTGGTCTCTGGGTCCCTGTGGGGGGTTCTGGTCCCTGGGTCCCTGTGGGC GGGTCTGGTCTCTGCATCCCTGTGTGGGGGTGGCTGGTCTCTGGGTCCCT GTGGGCGGGTCTGGTCTCTGGGTCCCTGTGTGGGGGTGGCTGGTCTCTGG GTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01070.hp2 others(12): Show HG00099.hp2 HG00140.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp1 HG01496.hp2 HG02300.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG03516.hp2 HG03927.hp2 NA18970.hp1 NA18983.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0002t0006	a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0084 others(12): Show a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0136 a0001c0001t0002g0229 a0001c0001t0002g0240 a0001c0001t0003g0317 a0001c0001t0003g0335 a0001c0001t0003g0343 a0001c0001t0003g0348 a0001c0001t0012g0230 a0001c0001t0024g0044 a0001c0001t0025g0048 a0001c0001t0029g0309 a0001c0002t0006g0056	15	263	0.0570	192	c.71 others(203): Show c.7120_*7121insTGGTCTCTGGGTCCCTGTGGGGGGTTCTGGTCCC TGGGTCCCTGTGGGCGGGTCTGGTCTCTGCATCCCTGTGTGGGGGTGGCT GGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCCCTGTGTGGGG GTGGCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGT GGGGGCGG		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					4957		chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113404099	G G	GCCTGACC others(185): Show GCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCAACCCTGTTCCCAAGC CCGTTCCTGAGCCCCTTTCTGGGTCTGCCTCTGAGTCTCTATCTGGGTCT GCTCCCAGCCCTGATCCCGAGCCCGATCCCGAGCCCATTCCTGAGCCCCT TTCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	260	0.0038	192	c.518 others(201): Show c.5182_5183insGTCGGGAGCAGACCCACATAGAGGCTCAGGGTCAGG CCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGGGATCAGGGC TGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAAAGGGGCTCA GGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAGAGGCTCAGG GTCAGG	p.Gln others(207): Show p.Gln1727_Ala1728insGlyArgGluGlnThrHisIleGluAlaGln GlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspArgAlaArgAs pGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnThrGlnLysG lyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThrHisIleGlu AlaGlnGlyGln	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5233/9722	5182/5904	1728/1967			chr13	TogoVar
AFAP1_chr4_7753714_7944861	7863941	T T	TTCACAAC others(185): Show TTCACAACCCCTTCCCAACTTCCCACCACAACCCATTCCCAACTTCCCAC CACAACCCATTCCCAACTTCCCACCACAACCCATTCCCAACTTCCCACCA CAACCCATTCCCAACTTCCCACCACAACACCTTCCCAACTTCCCATCACA ACCCATTCCCAACTTCCCATCACAACCCATTCCCAACTTCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG03209.hp1 others(1): Show HG01884.hp1 HG02922.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0012 a0001c0004 a0001c0009 a0001c0012	a0001c0004t0065 a0001c0009t0041 a0001c0012t0018 a0001c0004t0065 a0001c0009t0041 a0001c0012t0018	a0001c0004t0065g0200 a0001c0009t0041g0202 a0001c0012t0018g0201 others(1): Show a0001c0004t0065g0200 a0001c0009t0041g0202 a0001c0012t0018g0201 a0001c0012t0018g0203	4	307	0.0130	192	c.225 others(209): Show c.225+4680_225+4681insTGGGAAGTTGGGAATGGGTTGTGATGGG AAGTTGGGAATGGGTTGTGATGGGAAGTTGGGAAGGTGTTGTGGTGGGAA GTTGGGAATGGGTTGTGGTGGGAAGTTGGGAATGGGTTGTGGTGGGAAGT TGGGAATGGGTTGTGGTGGGAAGTTGGGAATGGGTTGTGGTGGGAAGTTG GGAAGGGGTTGTGA		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7863949	C C	CCCTTCCC others(185): Show CCCTTCCCAACTTCCCACCACAACCCATTCCCAACTTCCCACCACAACCC ATTCCCAACTTCCCACCACAACCCATTCCCAACTTCCCACCACAACCCAT TCCCAACTTCCCACCACAACCCATTCCCAACTTCCCACCACAACCCATTC CCAACTTCCCATCACAACACCTTCCCAACTTCCCATCACAACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0285 a0002c0005t0004g0285	1	312	0.0032	192	c.225 others(209): Show c.225+4672_225+4673insTGTTGTGATGGGAAGTTGGGAAGGTGTT GTGATGGGAAGTTGGGAATGGGTTGTGGTGGGAAGTTGGGAATGGGTTGT GGTGGGAAGTTGGGAATGGGTTGTGGTGGGAAGTTGGGAATGGGTTGTGG TGGGAAGTTGGGAATGGGTTGTGGTGGGAAGTTGGGAATGGGTTGTGGTG GGAAGTTGGGAAGG		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17						chr4	TogoVar
AFF2_chrX_148495617_149005663	148581334	G G	GTATATAC others(185): Show GTATATACGTATACGTGTACACACATATATATACACGTATATATACGTAT ACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	137	0.0073	192	c.48- others(209): Show c.48-70661_48-70660insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148704380	T T	TTATATAT others(185): Show TTATATATATATGTGTGTATATATATATTTATATATATATGTGTGTATAT ATATATTTATATATATATGTGTGTATATATATATTTATATATATGTGTGT ATATATATATTTATATATATATGTGTGTATATATATATTTATATATATGT GTGTATATATATATTTATATATATGTGTGTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	45	0.0222	192	c.104 others(213): Show c.1041+41621_1041+41622insATGTGTGTATATATATATTTATAT ATATATGTGTGTATATATATATTTATATATATATGTGTGTATATATATAT TTATATATATGTGTGTATATATATATTTATATATATATGTGTGTATATAT ATATTTATATATATGTGTGTATATATATATTTATATATATGTGTGTATAT ATATATTTATATATATAT		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chrX	TogoVar

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