Joint Open Genome and Omics Platform (JoGo)

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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
TRIOBP_chr22_37692048_37781556	37704380	C C	CACAGAAC others(178): Show CACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAG AACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAG AACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAG AACAGAACAGAACAGAACAGAACAGAACAGAACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0015 a0017c0030t0015	a0017c0030t0015g0179 a0017c0030t0015g0179	1	322	0.0031	185	c.114 others(202): Show c.114+2901_114+2902insACAGAACAGAACAGAACAGAACAGAACA GAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACA GAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACA GAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACA GAACAGA	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	3/23			chr22	TogoVar
TSNARE1_chr8_142207080_142408182	142390585	G G	GCAGACGC others(178): Show GCAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGCT GGGGACTCCGTAACAGACGCTGTACACTGCGGGGACTCCGTAACAGACGC TGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGACTC CGTAACAGACGCTGTACACTGCTGGGGACTCCGTAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0119 a0002c0002t0003g0119	1	238	0.0042	185	c.-40 others(204): Show c.-40+12518_-40+12519insTTACGGAGTCCCCAGCAGTGTACAGC GTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCA GCAGTGTACAGCGTCTGTTACGGAGTCCCCGCAGTGTACAGCGTCTGTTA CGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTA CAGCGTCTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870934	A A	ACACACCA others(178): Show ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	338	0.0030	185	c.35 others(204): Show c.35+22203_*35+22204insCACCACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCATACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA TACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(178): Show TAATAATATAATATATATTATTATATATAATAATATAATATATATTATTA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATAATATAATATATATTATTATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	238	0.0042	185	c.392 others(202): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATATTA TATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UGT1A10_chr2_233631448_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	302	0.0033	185	c.856 others(204): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0230 a0001c0020t0001g0230	1	350	0.0029	185	c.-50 others(196): Show c.-5001_-5000insCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGG CTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCT C	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		4915		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0152 a0010c0023t0001g0152	1	332	0.0030	185	c.867 others(202): Show c.867+4465_867+4466insCAGGGGGGCTGACCCCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0061 a0001c0001t0009g0061	1	330	0.0030	185	c.867 others(204): Show c.867+10294_867+10295insCAGGGGGGCTGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	332	0.0030	185	c.861 others(204): Show c.861+30287_861+30288insCAGGGGGGCTGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	320	0.0031	185	c.855 others(204): Show c.855+41360_855+41361insCAGGGGGGCTGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	290	0.0035	185	c.856 others(204): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233724126	A A	ACCTCCCG others(178): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0039 a0006c0006t0001g0039	1	318	0.0031	185	c.856 others(204): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7678644	A A	ATATATTT others(178): Show ATATATTTATATACTTAATTTATAGATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATG TATTTAGTTTATAAATATATATTTATGTATTTAGTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	250	0.0040	185	c.82+ others(200): Show c.82+5203_82+5204insCTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATATTT ATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
URI1_chr19_29937239_30021612	29944143	A A	ATATATTA others(178): Show ATATATTATATATATATATTATATATATATATATATATATATATTATATA TATATATAATATATATATATATTATATATATAATATATATATATATTATA TATATATATTATATATATATATATATATATATTATATATATATATTATAT ATATATAATATATATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	328	0.0031	185	c.117 others(202): Show c.117+1484_117+1485insTATATATATATATTATATATATATATAT ATATATATATTATATATATATATAATATATATATATATTATATATATAAT ATATATATATATTATATATATATATTATATATATATATATATATATATTA TATATATATATTATATATATATAATATATATATATATATTATATATATAT ATTATAT	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX3B_chrX_8459830_8471510	8466927	A A	AGGAGGTG others(178): Show AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0002 a0022c0029t0002	a0022c0029t0002g0003 a0022c0029t0002g0003	1	271	0.0037	185	c.54 others(194): Show c.544_*545insGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		418		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605234	C C	CCCCACCC others(178): Show CCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCT GTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0301 a0001c0001t0032g0301	1	388	0.0026	185	c.83- others(200): Show c.83-3213_83-3212insCGGGGGCGTGGGGGCGCTTTGGAAGATGGA ATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGGCGCT TTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGG CGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGG GTGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159133030	T T	TGGCATAC others(178): Show TGGCATACAGATTGATTTGAGACAGAATGATTGGCATACAGATTGATTTT AGACAGAATGATTGGCATACCGATTGATTTTAGACAGAATGATTGGCATA CAGATTGATTTGAGACAGAATGATTGGCATACAGATTGATTTTAGACAGA ATGATTGGCATACAGATTGATTTTAGACAGGAGGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	336	0.0030	185	c.151 others(202): Show c.151+9415_151+9416insGTCCTCCTGTCTAAAATCAATCTGTATG CCAATCATTCTGTCTAAAATCAATCTGTATGCCAATCATTCTGTCTCAAA TCAATCTGTATGCCAATCATTCTGTCTAAAATCAATCGGTATGCCAATCA TTCTGTCTAAAATCAATCTGTATGCCAATCATTCTGTCTCAAATCAATCT GTATGCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VPS53_chr17_503668_719839	598816	T T	TCCGGGAG others(178): Show TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0149 a0001c0002t0149	a0001c0002t0149g0202 a0001c0002t0149g0202	1	232	0.0043	185	c.121 others(204): Show c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598816	T T	TCCGGGAG others(178): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0091 a0002c0003t0091	a0002c0003t0091g0209 a0002c0003t0091g0209	1	232	0.0043	185	c.121 others(204): Show c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598816	T T	TCCGGGAG others(178): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0188 a0002c0003t0009g0188	1	232	0.0043	185	c.121 others(204): Show c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(178): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp1 HG02622.hp2 HG03486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0050 a0004c0006t0003g0053	2	274	0.0073	185	c.200 others(202): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCT CCTCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR87_chr19_37879823_37911594	37881016	A A	ATATATAT others(178): Show ATATATATAATATATATAATATATATATAATATATATATATAATATATAT ATTATATATATATAATATATATAATATATATATAATATATATATAATATA TATATTATATATATATTATATATATTATATATATATTATATATATTATAT ATATAATATATATAATATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0045 a0045	a0045c0044 a0045c0044	a0045c0044t0001 a0045c0044t0001	a0045c0044t0001g0127 a0045c0044t0001g0127	1	330	0.0030	185	c.39 others(196): Show c.3915_*3916insAATATATATATTATATATATATTATATATATTAT ATATATAATATATATAATATATATATAATATATATAATATATATATAATA TATATATTATATATATATTATATATATATTATATATATTATATATATATA ATATATATATTATATATATATATTATATATATATTATATATATTATATAT A	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3806		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(178): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATATATTATATATATTATATATATATTATATATATATAATAT ATATTATATATATATAATATATATATAATATATATATTATATATATATAA TATATATATTATATATATATAATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	330	0.0030	185	c.38 others(196): Show c.3884_*3885insAATATATATATATATTATATATATATAATATATA TATTATATATATATAATATATATATTATATATATATTATATATATATAAT ATATATTATATATATATAATATATATATAATATATATAATATATATATAT ATAATATATATATATATTATATATATATATATTATATATATATATTATAT A	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATATAAT others(178): Show TATATAATATATATATAATATATATATATTATATATATATATTATATATA TAATATATATATAATATATATATAATATATATATAATATATATATAATAT ATATATTATATATATATTATATATATAATATATATATATTTTATATATAT ATTATATATATAATATATATATATAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	330	0.0030	185	c.37 others(196): Show c.3793_*3794insCTCTCTCTCTCTATATATATATATTATATATATA ATATATATATAAAATATATATATATTATATATATAATATATATATAATAT ATATATTATATATATATTATATATATATTATATATATATTATATATATAT TATATATATAATATATATATATAATATATATATATTATATATATATTATA T	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(178): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATATTTAAAAATATATTATATAAATATATTTTAAAATATGTATT ATATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTAAA TATATTTATATATAAATATATTTTTAAATATATTTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG02630.hp2 HG01106.hp2 HG01255.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0316 a0001c0001t0015g0027 a0001c0001t0015g0316	3	394	0.0076	185	c.39+ others(200): Show c.39+1335_39+1336insTAAATATATTTAAAAATATATTTATATATA AATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATAT ATATTATATATAATATATATTTAAAAATATATTATATAAATATATTTTTA TATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(178): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATTTTTAAATATATAT TATATATAATATATATTTAAAAATATATTATATAAATATATTTTAAAATA TGTATTATATATAAATATATTTTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	394	0.0025	185	c.39+ others(200): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATACATATTTTAAAATATATTTATATAATATATTTTTAAATATATATTA TATATAATATATATTTAAAAATATATTATATATAATATATATTTAAAAAT ATATTATATATAATATATATTTAAAAATATATTATATAAATATATTTTTA TATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(178): Show TATATATAAAATATATTTATATAATATATTTTTAAATATATATTATATAT AATATATATTTAAAAATATATTATATAAATATATTTTAAAATATGTATTA TATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTAAAT ATATTTATATATAAATATATTTTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01192.hp2 others(7): Show HG00639.hp2 HG00738.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01943.hp2 HG02735.hp1 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0068 a0001c0001t0007 a0001c0001t0068	a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0007g0322 others(7): Show a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0329 a0001c0001t0068g0328	10	394	0.0254	185	c.39+ others(200): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AAATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATT TATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATA TATATTATATATAATATATATTTAAAAATATATTATATAAATATATTTTA TATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(178): Show TATATATAAAATATATTTATATAATATATTTTTAAATATATATTATATAT AATATATATTTAAAAATATATTATATAAATATATTTTAAAATATGTATTA TATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTAAAT ATATTTATATATAAATATATTTTTTAATATATATTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0319 a0001c0001t0007g0319	1	394	0.0025	185	c.39+ others(200): Show c.39+1335_39+1336insTAATATATATTAAAAAATATATTTATATAT AAATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATT TATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATA TATATTATATATAATATATATTTAAAAATATATTATATAAATATATTTTA TATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZC3H18_chr16_88565403_88636964	88615028	A A	AGGCTGCC others(178): Show AGGCTGCCCCCACCTCCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCAC CTGCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCC TCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGG GCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACG	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20805.hp2 HG03491.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0327 a0001c0002t0001g0033 a0001c0001t0001g0327 a0001c0002t0001g0033	2	378	0.0053	185	c.147 others(204): Show c.1475+3506_1475+3507insCCTCCGTTCCCTCTGCCTGGACGGGC TGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGC TCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTG CCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGGGCTG CCCCCACCT	ZC3H18	ENSG00000158545.16	transcript	ENST00000301011.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
AADACL4_chr1_12639085_12672076	12645028	C C	CCCTTCCT others(179): Show CCCTTCCTCCCTATCTCCTTCATTCCCTCCCTCCCTCCCTTCCTTCCCTC CTTCTCCGCTCCTTTCCTTCCTTTTTCCTTCTTTCTTTCTCTCCCTCCCT CCTTCCTTCCTCCTTCCCTCCTTCCTTCATTCTCTCTCTTCCTATCTCCT TCCTTCCCTCCCTCCTTCCTTTCTTCTTTCCCTTCTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	310	0.0032	186	c.168 others(201): Show c.168+349_168+350insCCCTTCCTTCCCTCCTTCTCCGCTCCTTTC CTTCCTTTTTCCTTCTTTCTTTCTCTCCCTCCCTCCTTCCTTCCTCCTTC CCTCCTTCCTTCATTCTCTCTCTTCCTATCTCCTTCCTTCCCTCCCTCCT TCCTTTCTTCTTTCCCTTCTTCCTTCCTCCCTATCTCCTTCATTCCCTCC CTCCCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCA13_chr7_48166458_48652497	48443861	T T	TCCTCTTT others(179): Show TCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTT TCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGG AAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG01070.hp2 others(16): Show HG00544.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01169.hp1 HG01981.hp2 HG01993.hp1 HG02258.hp2 HG02622.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18987.hp1 NA18998.hp2 NA19007.hp2 NA19060.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0012 a0015 a0016 a0021 a0025 a0039 a0046 a0076 a0084	a0001c0001 a0002c0022 a0003c0003 others(10): Show a0001c0001 a0002c0022 a0003c0003 a0004c0008 a0012c0012 a0015c0019 a0016c0028 a0021c0018 a0025c0086 a0039c0093 a0046c0040 a0076c0047 a0084c0049	a0001c0001t0004 a0002c0022t0004 a0003c0003t0004 others(10): Show a0001c0001t0004 a0002c0022t0004 a0003c0003t0004 a0004c0008t0004 a0012c0012t0002 a0015c0019t0002 a0016c0028t0001 a0021c0018t0004 a0025c0086t0004 a0039c0093t0004 a0046c0040t0004 a0076c0047t0004 a0084c0049t0004	a0001c0001t0004g0057 a0001c0001t0004g0164 a0002c0022t0004g0163 others(16): Show a0001c0001t0004g0057 a0001c0001t0004g0164 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0004c0008t0004g0167 a0012c0012t0002g0052 a0012c0012t0002g0094 a0015c0019t0002g0136 a0015c0019t0002g0175 a0016c0028t0001g0134 a0021c0018t0004g0091 a0025c0086t0004g0008 a0039c0093t0004g0095 a0046c0040t0004g0039 a0076c0047t0004g0159 a0084c0049t0004g0099	19	178	0.1067	186	c.125 others(209): Show c.12566-11022_12566-11021insCCCTCTTTCCTTCCTGTTACAG GAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCC TTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAA CACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGT TACAGGAGGAAACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(179): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATAATAATATATAATAT AATTCTATATAATATATAATATATAATATAATTATATAAAATATTAATAT ATTATATAATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0165 a0002c0006t0001g0165	1	274	0.0037	186	c.-35 others(197): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTAATATTTTATATAATTATATTATATATTATATATTATATAGA ATTATATTATATATTATTATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(179): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATATAATATA ATTATATATAATATATAATATATAATATAATTATATAAAATATATAATAT ATTATATAATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(32): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01106.hp2 HG01258.hp1 HG02040.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp2 HG02738.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18969.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA19000.hp1 NA19003.hp2 NA19060.hp1 NA19063.hp2 NA19080.hp2 NA19081.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0004c0007 a0006c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0002c0006t0001 a0004c0007t0001 a0006c0053t0001	a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0186 others(32): Show a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0221 a0001c0001t0007g0265 a0001c0002t0001g0203 a0001c0002t0001g0242 a0001c0002t0006g0231 a0001c0004t0001g0187 a0001c0004t0001g0190 a0001c0004t0001g0196 a0001c0004t0001g0206 a0001c0004t0001g0214 a0002c0006t0001g0201 a0004c0007t0001g0189 a0004c0007t0001g0267 a0006c0053t0001g0204	35	274	0.1277	186	c.-35 others(197): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(179): Show ATATAATTATATATAATATATAATATAATTATATATTATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATATAATATA ATTATATATAATATATAATATATAATATAATTATATAAAATATATAATAT ATTATATAATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	274	0.0037	186	c.-35 others(197): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATAATATATAATTATATTATATATTATATATAATTA TA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCG1_chr21_42214140_42302244	42284026	G G	GCCCAGAT others(179): Show GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCG AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCCACCT CTTTCCCACCTGGACAGTTGTGAAGTACCCCCCACCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0303 a0001c0001t0010g0303	1	354	0.0028	186	c.735 others(201): Show c.735-486_735-485insGAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACC CCCCACCACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGC	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42284042	A A	ACCCCCCC others(179): Show ACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCC CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTTTCCCACCTGGACAG TTGTGAAGTACCCCCCACCACCCAGATGAGTGGGGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0302 a0001c0001t0010g0302	1	354	0.0028	186	c.735 others(201): Show c.735-486_735-485insGAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACCC CCCACCACCCAGATGAGTGGGGACCCCCCCCACCTCTGTCCCGCCTGGAC AGTTGC	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACACB_chr12_109111587_109273226	109209995	A A	ATGTATAT others(179): Show ATGTATATATACACATACACACACGTGTGTGTATATATGTATATATACAC ACATATATGTGTATATATGTGTATACACACACATATATGTGTATACACAC ATACATGCATGTGTGTATATATGTGTATATACACACACATACATGCATGT GTGTATATATGTGTATATATACACACATACGTATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0037 a0007c0037	a0007c0037t0004 a0007c0037t0004	a0007c0037t0004g0200 a0007c0037t0004g0200	1	308	0.0033	186	c.324 others(203): Show c.3249+645_3249+646insATATATACACATACACACACGTGTGTGT ATATATGTATATATACACACATATATGTGTATATATGTGTATACACACAC ATATATGTGTATACACACATACATGCATGTGTGTATATATGTGTATATAC ACACACATACATGCATGTGTGTATATATGTGTATATATACACACATACGT ATGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289433	C C	CCGTGTCT others(179): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	295	0.0034	186	c.41 others(197): Show c.4130_*4131insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2957		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCC others(179): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	295	0.0034	186	c.38 others(197): Show c.3836_*3837insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(179): Show TAATATACATATATATATTATATATATACATATATATATATTATATATAT ACATATATATATTATATATATACATATATATATTATATATATAACATATA TATATTATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0185	1	346	0.0029	186	c.497 others(203): Show c.497+7160_497+7161insATATACATATATATATTATATATATACA TATATATATATTATATATATACATATATATATTATATATATACATATATA TATTATATATATAACATATATATATTATATATATATACATATATATATTA TATATATATACATATATATATTATATATATATACATATATATATTATATA TATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATAAAAA others(179): Show AATAAAAATTTATATTTAGATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCAT AAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	186	c.-14 others(197): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATCTAAATATAAATTTTT AT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATAAAAA others(179): Show AATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCAT AAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG03239.hp2 HG03453.hp1 others(1): Show HG00280.hp2 HG03239.hp2 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	418	0.0096	186	c.-14 others(197): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTT AT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771186	A A	TTTATATT others(179): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03017.hp2 HG03098.hp1 others(8): Show HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 NA18747.hp2 NA18945.hp1 NA18946.hp2 NA19030.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	11	418	0.0263	186	c.-16 others(197): Show c.-1666_-1665insTTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATAT AAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1625		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	T T	TTATATAT others(179): Show TTATATATATGCACATATACACATTATATGTGTATATATATGCACATATA CACATTATATGTGTATATATATGCACATATACACATTATATGTGTATATA TATGCACATATACACATTATATGTGTATATATATGCACATATACACATTA TATGTGTATATATATGCACATATACACATTATATGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0139 a0001c0005t0002g0139	1	228	0.0044	186	c.118 others(205): Show c.1182-7314_1182-7129dupCACATATAATGTGTATATGTGCATAT ATATACACATATAATGTGTATATGTGCATATATATACACATATAATGTGT ATATGTGCATATATATACACATATAATGTGTATATGTGCATATATATACA CATATAATGTGTATATGTGCATATATATACACATATAATGTGTATATGTG CATATATATA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77334067	C C	CTATATAT others(179): Show CTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGCTA TATATGCTATATATAATATACAGTGTTATATATTATATATAATATACAGT GTTATATATTATATATAATATACAGTGTTATATATTATATATAATATACA GTGTTATATATTATATATAATATACAGTGTTATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0012 a0004c0003t0012	a0004c0003t0012g0136 a0004c0003t0012g0136	1	326	0.0031	186	c.185 others(205): Show c.1859+1688_1859+1689insATATATAACACTGTATATTATATATA ATATATAACACTGTATATTATATATAATATATAACACTGTATATTATATA TAATATATAACACTGTATATTATATATAATATATAACACTGTATATTATA TATAGCATATATAGCACTGTATATTATATATAGCATATATAGCACTGTAT ATTATATATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATGTAT others(179): Show GTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAG ATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATAC ATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTAT ATGTATGTATCTAGATATACATATACATGTATCTGTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	226	0.0044	186	c.132 others(205): Show c.1329-1947_1329-1946insGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTAT GTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGB_chr6_146593972_146820462	146615248	T T	TAAGAATT others(179): Show TAAGAATTCACCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0075 a0007c0075	a0007c0075t0001 a0007c0075t0001	a0007c0075t0001g0026 a0007c0075t0001g0026	1	276	0.0036	186	c.74+ others(203): Show c.74+16144_74+16145insCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAATTCAC	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRA1_chr10_133082924_133136675	133135818	G G	GGGGTTCT others(179): Show GGGGTTCTGGTCTCTGGGTCCCTGGGGGGGCGGCTGGTCTCTGGGTCCCT GTGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGT CTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCT GGGTCCCTGTGGAGGCGGCTGGTCTCTGGGTCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0219 a0001c0008t0002g0219	1	368	0.0027	186	c.63 others(197): Show c.6307_*6308insGGGTTCTGGTCTCTGGGTCCCTGGGGGGGCGGCT GGTCTCTGGGTCCCTGTGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGC GGCTGGTCTCTGGGTCTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGG GCGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTGGGTCCCT GT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4144		chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(179): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0049 a0049	a0049c0034 a0049c0034	a0049c0034t0006 a0049c0034t0006	a0049c0034t0006g0019 a0049c0034t0006g0019	1	218	0.0046	186	c.32- others(199): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(179): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0038 a0038	a0038c0022 a0038c0022	a0038c0022t0021 a0038c0022t0021	a0038c0022t0021g0004 a0038c0022t0021g0004	1	218	0.0046	186	c.32- others(199): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar

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