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
VCX_chrX_7838171_7849143	7844334	G G	GGGAGGGA others(354): Show GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGA GGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGAGGGAGAGA GGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0083 a0083	a0083c0062 a0083c0062	a0083c0062t0013 a0083c0062t0013	a0083c0062t0013g0009 a0083c0062t0013g0009	1	341	0.0029	361	c.31 others(370): Show c.318_*319insGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGAGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTG TGGGAGGGAGAGAGGTGTGTGGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		192		chrX	TogoVar
WDR45B_chr17_82609562_82653444	82624624	G G	GTTTTTTT others(354): Show GTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTATCGCCCAGGCTGGAG TGCAATGGTGTGATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAG CAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATGGGCACCCGCC ACCACATCCAGCTAAGTTTTGTATGTTTAGTAGAGATGAGGTTTCACCAC GTTGACCAGGATGCTCTCTATCTCCTGACCTCGTGATCCGCCCGCCTTGG CCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACC GTTCTGTCTTGACTGTGACGGTGGCTACACAACTGTTTACAATGACGGAA ATTTATTGAAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01257.hp2 others(2): Show HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0346 others(2): Show a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0362	5	382	0.0131	361	c.427 others(376): Show c.427+764_427+765insACTTCAATAAATTTCCGTCATTGTAAACAG TTGTGTAGCCACCGTCACAGTCAAGACAGAACGGTCGGCCGGGCGCAGTG GCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGCGGATCAC GAGGTCAGGAGATAGAGAGCATCCTGGTCAACGTGGTGAAACCTCATCTC TACTAAACATACAAAACTTAGCTGGATGTGGTGGCGGGTGCCCATAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTAG AGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGATAG AGCAAGACTCTATCTCAAAAAAAAAAAAAAA	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	5/9			chr17	TogoVar
ZDHHC11B_chr5_705355_789729	710628	T T	TTTCCCAG others(354): Show TTTCCCAGTACTGTGCTCCCATTTCTCAGTACTGTGCTCCCATTTCCCAG CACTATGCTCCCATTTCCCAGGACTGTGAGCTTCCATTTCCCAGTACTGT GCTCCCATTTCCCAATGCTATGCTCCATTTCCCAGTGCTGTGAGCTCCCA TTTCCCAGTACTGTGCTCCCATTTCCGAATACTGTGCTCCCATTTCCCAG TACTGTGAGCTCCCATTTCTCAGTACTGTGCTCCCATTTCCCAGCACTAT GCTCCCATTTCCCAGTACTGTGCTCCCATTTCCCAATACTGTGCTCCCAT TTTGCAGTGCTGTAAGCCGTTTCCCAGTACTGTGCTCCCATTTCCCAGTA CTGTGCTCCCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02723.hp1 others(5): Show HG02451.hp2 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp1	a0004 a0009 a0013 others(2): Show a0004 a0009 a0013 a0015 a0021	a0004c0012 a0009c0028 a0013c0054 others(2): Show a0004c0012 a0009c0028 a0013c0054 a0015c0050 a0021c0051	a0004c0012t0011 a0004c0012t0052 a0009c0028t0011 others(3): Show a0004c0012t0011 a0004c0012t0052 a0009c0028t0011 a0013c0054t0011 a0015c0050t0011 a0021c0051t0011	a0004c0012t0011g0157 a0004c0012t0011g0158 a0004c0012t0052g0162 others(5): Show a0004c0012t0011g0157 a0004c0012t0011g0158 a0004c0012t0052g0162 a0009c0028t0011g0160 a0009c0028t0011g0161 a0013c0054t0011g0089 a0015c0050t0011g0159 a0021c0051t0011g0163	8	271	0.0295	361	c.16 others(372): Show c.1661_*1662insTTGGGAGCACAGTACTGGGAAATGGGAGCACAGT ACTGGGAAACGGCTTACAGCACTGCAAAATGGGAGCACAGTATTGGGAAA TGGGAGCACAGTACTGGGAAATGGGAGCATAGTGCTGGGAAATGGGAGCA CAGTACTGAGAAATGGGAGCTCACAGTACTGGGAAATGGGAGCACAGTAT TCGGAAATGGGAGCACAGTACTGGGAAATGGGAGCTCACAGCACTGGGAA ATGGAGCATAGCATTGGGAAATGGGAGCACAGTACTGGGAAATGGAAGCT CACAGTCCTGGGAAATGGGAGCATAGTGCTGGGAAATGGGAGCACAGTAC TGAGAAATGGGAGCACAGTACTGGGAA	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	6179		chr5	TogoVar
ZER1_chr9_128724786_128776927	128776586	C C	CAAAAAAA others(354): Show CAAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAACAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	330	0.0030	361	c.-51 others(372): Show c.-5101_-5100insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTGTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCTTTTTTTTTTTTTTTT	ZER1	ENSG00000160445.11	transcript	ENST00000291900.7	protein_coding		4660		chr9	TogoVar
ZFYVE16_chr5_80403064_80488379	80480098	T T	TAAAAAGT others(354): Show TAAAAAGTAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0022 a0003c0003t0018g0022	1	226	0.0044	361	c.27 others(372): Show c.2732_*2733insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGTAGTC	ZFYVE16	ENSG00000039319.17	transcript	ENST00000505560.5	protein_coding	19/19	2733	INFO_REALIGN_3_PRIME	chr5	TogoVar
ZMIZ2_chr7_44743847_44774881	44746201	G G	GATAGAGT others(354): Show GATAGAGTCTCGCTCTGTCACCCACGGTGGAGTGCAGTGGTGCGATCTCA GCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCCTCCGC CTCCCGAATAGCTGGGAATACAGGTGCATGCCACCACACCTGGCTAATTT TTGTATTTTTAGTAGAGTAGGGTTTCACGCCACCATGCCTGGCTAATTTT TGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTC GAACTCCTGACCTCACGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCAGGCAACTTTTTTTTTTGGGGGGGT GATGGTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01081.hp2 others(19): Show HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01175.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG03491.hp2 HG03492.hp2 HG04184.hp2 HG04199.hp2 NA18979.hp2 NA18983.hp1 NA19065.hp1 NA19076.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0024	a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0002g0028 others(11): Show a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0028 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0013g0005 a0001c0001t0013g0085 a0001c0001t0024g0010	22	370	0.0595	361	c.-28 others(372): Show c.-2853_-2852insATAGAGTCTCGCTCTGTCACCCACGGTGGAGTGC AGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGA TTCTCCTGCCTCCGCCTCCCGAATAGCTGGGAATACAGGTGCATGCCACC ACACCTGGCTAATTTTTGTATTTTTAGTAGAGTAGGGTTTCACGCCACCA TGCCTGGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTT GGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCTGCCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCAGGCAACTTT TTTTTTTGGGGGGGTGATGGTGGGGGA	ZMIZ2	ENSG00000122515.16	transcript	ENST00000309315.9	protein_coding		2645		chr7	TogoVar
ZNF365_chr10_62369369_62407450	62371316	A A	ATATCATA others(354): Show ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATCATATATATGATATATATCTCATATATATATCATAT ATATGATATATATCTCATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGATATATATC TCATATATATATCATATATATGATATATATCTCATATATATATCATATAT ATGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	350	0.0029	361	c.-31 others(372): Show c.-3156_-3155insTATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATCATATATATGATATATATCTC ATATATATATCATATATATGATATATATCTCATATATATATCATATATAT GATATATATCTCATATATATATCATATATATGATATATATCTCATATATA TATCATATATATGATATATATCTCATATATATATCATATATATGATATAT ATCTCATATATATATCATATATATGATATATATCTCATATATATATCATA TATATGATATATATCTCATATATATATCATATATATGATATATATCTCAT ATATATATCATATATATGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3052		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371316	A A	ATATCATA others(354): Show ATATCATATATATGATATATATCTCATATATATCATATATATGATATATA TCTCATATATATATCATATATATGATATATATCTCATATATATATCATAT ATATGATATATATCTCATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGATATATATC TCATATATATATCATATATATGATATATATCTCATATATATATCATATAT ATGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	350	0.0057	361	c.-31 others(372): Show c.-3156_-3155insTATCATATATATGATATATATCTCATATATATCA TATATATGATATATATCTCATATATATATCATATATATGATATATATCTC ATATATATATCATATATATGATATATATCTCATATATATATCATATATAT GATATATATCTCATATATATATCATATATATGATATATATCTCATATATA TATCATATATATGATATATATCTCATATATATATCATATATATGATATAT ATCTCATATATATATCATATATATGATATATATCTCATATATATATCATA TATATGATATATATCTCATATATATATCATATATATGATATATATCTCAT ATATATATCATATATATGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3052		chr10	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(354): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0123 a0001c0002t0011g0123	1	434	0.0023	361	c.328 others(376): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(355): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	357	0.0028	362	c.278 others(381): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCA CCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTA TCCATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCACTC ATTTATCTATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATC CCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(355): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	295	0.0034	362	c.44 others(373): Show c.4490_*4491insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688890	G G	GGAGAGGG others(355): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0032 a0004c0006t0012g0032	1	354	0.0028	362	c.523 others(381): Show c.523-13421_523-13420insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5305155	A A	ACATCCAC others(355): Show ACATCCACACCACACACACACACATCCCACACCAGACACACACATCCCAC ACACACATCCCACAACACACACACACATCCCACATCACACACACACATCC CACACACACATCCCACACCACACACACACATCCCACACACACACACCCAC CACACACACACATCCCACACCACACAATCCCACACCACACACACACACAA TCCCACACCACACACACACATCCCACACCACACACACATCCCACGCCACA CACACACACATCCCACACCACACACACATCCCACACCACACACATCCACA CCACACACACACATCCCACACCACACATACACACACACATCCCATACCAC ACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp1 HG03130.hp2 HG01243.hp1 HG02976.hp1 HG03130.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0055 a0019c0079 a0001c0001 a0001c0055 a0019c0079	a0001c0001t0001 a0001c0055t0020 a0019c0079t0029 a0001c0001t0001 a0001c0055t0020 a0019c0079t0029	a0001c0001t0001g0057 a0001c0055t0020g0056 a0019c0079t0029g0204 a0001c0001t0001g0057 a0001c0055t0020g0056 a0019c0079t0029g0204	3	332	0.0090	362	c.318 others(381): Show c.3187-1347_3187-1346insTCCACACCACACACACACACATCCCA CACCAGACACACACATCCCACACACACATCCCACAACACACACACACATC CCACATCACACACACACATCCCACACACACATCCCACACCACACACACAC ATCCCACACACACACACCCACCACACACACACATCCCACACCACACAATC CCACACCACACACACACACAATCCCACACCACACACACACATCCCACACC ACACACACATCCCACGCCACACACACACACATCCCACACCACACACACAT CCCACACCACACACATCCACACCACACACACACATCCCACACCACACATA CACACACACATCCCATACCACACACATCCCACACCA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(355): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0203 a0002c0004t0006g0203	1	228	0.0044	362	c.259 others(383): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATC CCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCC CACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTT CCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(355): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGA GGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGG GGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	352	0.0028	362	c.51 others(373): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGC CCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTC CTCCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCC CTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCC CCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCC TCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCTCCCCTC CTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620388	A A	ACATGTAT others(355): Show ACATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATAT ATGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCAT GTATATATGAATATATATGTATATTCATGTATATATGAATATATATGTAT ATTCATGTATATATGAATATATATGTATATTCATGTATATATGAATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp1 HG02300.hp1 HG01167.hp1 HG01358.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0105	3	372	0.0081	362	c.192 others(379): Show c.1921-918_1921-917insAATATACATATATATTCATATATACATG AATATACATATATATTCATATATACATGAATATACATATATTCATATATA CATGAATATACATATATATTCATATATACATGAATATACATATATATTCA TATATACATGAATATACATATATATTCATATATACATGAATATACATATA TATTCATATATACATGAATATACATATATATTCATATATACATGAATATA CATATATATTCATATATACATGAATATACATATATATTCATATATACATG AATATACATATATATTCATATATACATGAATATACATATATATTCATATA TACATGAATATACATATATATTCATATATACATG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074546	T T	TCTTCTTC others(355): Show TCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	188	0.0053	362	c.-1- others(377): Show c.-1-5712_-1-5711insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAG AAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(355): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0103 a0002c0005t0103	a0002c0005t0103g0253 a0002c0005t0103g0253	1	262	0.0038	362	c.775 others(377): Show c.775-337_775-336insGGATGAGTGGATGGGTGGATGGATGAATGG GTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGAT GGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGG GTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAAT GGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGG GTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATG GATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGA TGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(355): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAA GGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGA ACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGAGGG GGAGGGAAGGGGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAG GGAAAAAAGGAAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGA AGAAAGGAAGGGAAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAG GAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	426	0.0024	362	c.-49 others(373): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCT TCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCC CTCTTCCCTTCCCTTCTTCCCTTCTTCCCTTCCCCTTCTTCCCCTCCCCT TCTTCCCCCCCCTCCCCTTCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCC CTTCCCTTCCTTTCCCTTCTTTCCTTTC	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4892		chr9	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(355): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGA GGGGAGGGGGAGGGGGGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	301	0.0033	362	c.125 others(383): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCC CCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCC CCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCC CCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCC TTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(355): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTC TTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCT CTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAG AGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0008	a0001c0001 a0001c0010 a0002c0002 others(5): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0004c0005 a0006c0013 a0007c0011 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0010t0002 a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0023 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0013 a0002c0003t0020 a0002c0003t0022 a0004c0005t0001 a0006c0013t0005 a0007c0011t0005 a0008c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0001g0209 others(206): Show a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0323 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0327 a0001c0001t0003g0342 a0001c0001t0004g0207 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0363 a0001c0001t0004g0365 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0004g0374 a0001c0001t0004g0375 a0001c0001t0004g0376 a0001c0001t0004g0377 a0001c0001t0004g0379 a0001c0001t0004g0380 a0001c0001t0004g0381 a0001c0001t0004g0382 a0001c0001t0004g0383 a0001c0001t0004g0385 a0001c0001t0004g0386 a0001c0001t0004g0387 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0321 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0338 a0001c0001t0005g0340 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0009g0318 a0001c0001t0009g0319 a0001c0001t0009g0320 a0001c0001t0009g0337 a0001c0001t0025g0371 a0001c0001t0028g0216 a0001c0001t0029g0304 a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0122 a0002c0002t0002g0125 a0002c0002t0012g0111 a0002c0002t0012g0112 a0002c0002t0016g0068 a0002c0002t0016g0116 a0002c0002t0017g0054 a0002c0002t0017g0055 a0002c0002t0021g0006 a0002c0002t0023g0042 a0002c0003t0001g0071 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0164 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0173 a0002c0003t0003g0176 a0002c0003t0003g0177 a0002c0003t0003g0180 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0194 a0002c0003t0006g0188 a0002c0003t0006g0189 a0002c0003t0013g0001 a0002c0003t0020g0008 a0002c0003t0022g0007 a0004c0005t0001g0235 a0006c0013t0005g0329 a0007c0011t0005g0339 a0008c0008t0002g0005	211	392	0.5383	362	c.703 others(377): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTG TTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTA CCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGA CGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTTA others(355): Show CGTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACATATTTATACATA TATATGTATAAATACATACATATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATGTATAAATACATACATATTTATACATATATGTATAAA TACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0216 a0001c0001t0114g0216	1	256	0.0039	362	c.39 others(371): Show c.393_*394insGTATTTATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACATACATAT TTATACATATATGTATACATACATATTTATACATATATATGTATAAATAC ATATTTATACATATATATGTATAAATACATACATATTTATACATATATAT GTATAAATACATACATATTTATACATATATATGTATAAATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATGTATAAATACATACATATTTATAC ATATATGTATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARFRP1_chr20_63693647_63712976	63693693	A A	ACCCCACC others(355): Show ACCCCACCCTCCACCACCTCCACCTCCACCACCCCACCTCCACCACCTCC ACCTCCACCTCCACCCACCACCTCCACCTCCACCTCCACCTCCCACCTCC ACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCCCACC ACCACCACCCCCCCCACCACCCCACCCACCCCACCACCACACCACCTCCA CCACCCCACCCCACCTCCACCACCACCTCCACCACCTCCACCCCACCCCT CCCCACCACCCCACCACCTCCACCCCTCCACCCCACCACCACCACCACCA CCACCACCACCCCTCCACCCCACCTCCCCACGTCCACCACCTCCACCACC TCCACCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	296	0.0034	362	c.67 others(373): Show c.6749_*6750insAGGTGGAGGTGGAGGTGGTGGAGGTGGTGGACGT GGGGAGGTGGGGTGGAGGGGTGGTGGTGGTGGTGGTGGTGGTGGTGGGGT GGAGGGGTGGAGGTGGTGGGGTGGTGGGGAGGGGTGGGGTGGAGGTGGTG GAGGTGGTGGTGGAGGTGGGGTGGGGTGGTGGAGGTGGTGTGGTGGTGGG GTGGGTGGGGTGGTGGGGGGGGTGGTGGTGGTGGGGTGGTGGAGGTGGTG GAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGGAGGTGGAGGTGG AGGTGGAGGTGGTGGGTGGAGGTGGAGGTGGAGGTGGTGGAGGTGGGGTG GTGGAGGTGGAGGTGGTGGAGGGTGGGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4953		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144557302	A A	AAAGGCTG others(355): Show AAAGGCTGAACCTTCACAGTATTCAGATGCAAAAGCCTGAACCTTCATAG TATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGGCTG AACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTAGTATTCAGAG GCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACCTTCATA GTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGGCT GAACCTTCCTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGA GGCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACCTTCAT AGTATTCAGAGGC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	246	0.0041	362	c.513 others(379): Show c.513-1660_513-1659insGCCTCTGAATACTATGAAGGTTCAGCCT TTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACTATGAA GGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTCAGCCTTTTGCCACTG AATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGCC TTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACTACGA AGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTTGCCACT GAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGG CTTTTGCATCTGAATACTGTGAAGGTTCAGCCTT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144557302	A A	AAAGGCTG others(355): Show AAAGGCTGAACCTTCATAGTATTCAGATGCAAAAGCCTGAACCTTCATAG TATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGGCTG AACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTAGTATTCAGAG GCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACCTTCATA GTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGGCT GAACCTTCCTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGA GGCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACCTTCAT AGTATTCAGAGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02965.hp2 others(2): Show HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0073 others(2): Show a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0073 a0001c0004t0006g0074 a0001c0004t0006g0075	5	246	0.0203	362	c.513 others(379): Show c.513-1660_513-1659insGCCTCTGAATACTATGAAGGTTCAGCCT TTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACTATGAA GGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTCAGCCTTTTGCCACTG AATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGCC TTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACTACGA AGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTTGCCACT GAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGG CTTTTGCATCTGAATACTATGAAGGTTCAGCCTT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955040	T T	TTCTGGAT others(355): Show TTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGT TCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTG TTTCTCTGGATGGGTAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTCTCTGGATGGGTAGCCAGGTGCTTCCTGAAAGGAGGCGCACTCTC ACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCT CACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACT CACTGTGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGTA CTCTCACTGTTTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0023 a0023	a0023c0091 a0023c0091	a0023c0091t0003 a0023c0091t0003	a0023c0091t0003g0358 a0023c0091t0003g0358	1	363	0.0028	362	c.352 others(381): Show c.3521-1608_3521-1607insTCTCTGGATGGGTAGCCAGGTGCTCC CTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGTAGCCAGGTGCT TCCTGAAAGGAGGCGCACTCTCACTGTTCCTCTGGAGGATAGCCAGGTGC ATCCTGGAAGGAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGT GCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCTGGATGGGTAGCTAG GTGCTCCCTGAAAGGAGGTGTACTCTCACTGTTTCTCTGGATGGGTAGCT AGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAGC CAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB5_chr4_176208673_176274222	176218508	G G	GATATATA others(355): Show GATATATAAATATATATATTTGTATGATATATAAATATATATATGTATGA TATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATTTGTATGATATATAAATATATATATATTTGTAT GATATATAAATATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATACAAATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 NA19043.hp1 HG01884.hp2 HG02809.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0304 a0001c0002t0001g0026 a0001c0002t0001g0304	3	410	0.0073	362	c.671 others(379): Show c.671-1500_671-1499insATTTATATATCATACAAATATATATATA TTTATATATCATACAAATATATATATTTATATATCATACAAATATATATA TTTATATATCATACAAATATATATATTTATATATCATACAAATATATATT TGTATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATATTTATATATCATACAAATATATATA TATTTATATATCATACAAATATATATATTTATATATCATACAAATATATA TATTTATATATCATACAAATATATATATTTATATATCATACATATATATA TTTATATATCATACAAATATATATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(355): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0213 a0001c0002t0014g0213	1	254	0.0039	362	c.39+ others(379): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(355): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCTCCC CCACCCCCCCACCCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCCACCTCCCCCACCCCCCCACCTCCCCCCACCCCCCACC CCCACCCCCTACCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	254	0.0039	362	c.39+ others(379): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCTCCCCCACCCCCCCACCCCCCCCACCTCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCCACCTCCCCCCACC CCCCACCCCCACCCCCTACCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(355): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	298	0.0034	362	c.955 others(379): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835528	A A	AGCCCCCC others(355): Show AGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCATCCAGGC CCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	362	c.36 others(373): Show c.3651_*3652insGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCATCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3511		chr19	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCT others(355): Show TCCTTCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCC TTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCC TTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCC TTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTC CCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCC CCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCC CTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTT TCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	420	0.0024	362	c.910 others(377): Show c.910-567_910-566insCCCCTTCCTTCCTGCCCCCTTCCCCCTTGC CCCTTCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTC TCCCCTTCCTTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTT CCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTT CCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTG CCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCC CCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCC TTCCCCTTTTCCCCCCTTCCCCCCTTCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(355): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG03239.hp2 HG00280.hp1 HG01358.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0001g0200 a0001c0001t0002g0198 a0001c0001t0002g0199	3	268	0.0112	362	c.328 others(375): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BDH1_chr3_197504783_197560968	197518636	A A	ACCCCCCC others(355): Show ACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGG CTGACCCCCCCCATCAGTCACTTCCTGCTCTATGGACTCCATCCCCCCTC AGGCCGACCCCCCCCCATCAGTCACTTCCTGCTCTATGGACTCCATCCCC TCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCAT CCCCTCCTCAGGCCGACCCCCCTCATCAGTCACTTCCTGCTCTATGGTCT CCATCCCCCCTCAGGCTGACCTCCCCGCCCCATCAGTCACTTCCTGCTCT ATGGTCTCCATCCCCCCCTCAGTCACTTCCTGCTCTATGGTCTCCATCCC CCCTCAGGCCGAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0152 a0001c0001t0017g0152	1	319	0.0031	362	c.409 others(379): Show c.409+3642_409+4003dupGTCGGCCTGAGGGGGGATGGAGACCATA GAGCAGGAAGTGACTGAGGGGGGGATGGAGACCATAGAGCAGGAAGTGAC TGATGGGGCGGGGAGGTCAGCCTGAGGGGGGATGGAGACCATAGAGCAGG AAGTGACTGATGAGGGGGGTCGGCCTGAGGAGGGGATGGAGACCATAGAG CAGGAAGTGACTGATGGGGGGGGTCGGCCTGAGGAGGGGATGGAGTCCAT AGAGCAGGAAGTGACTGATGGGGGGGGGTCGGCCTGAGGGGGGATGGAGT CCATAGAGCAGGAAGTGACTGATGGGGGGGGTCAGCCTGAGGGGGGATGG AGACCATAGAGCAGGAAGTGACTGATGGGGGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
C2CD4C_chr19_400445_414147	404930	G G	GGAGGGGG others(355): Show GGAGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGT CCTGAGGGGTGTGGAGGGGGGAACGGGGGTCCTGCCCTGAGGGGTGTGGA GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGG GGACGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCC TGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0115 a0002c0003t0008g0115	1	322	0.0031	362	c.21 others(373): Show c.2165_*2166insTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCC TCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCCACACCCCTCAGGGC AGGACCCCATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGA CCCCCGTTCCCCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGG ACCCCATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACAC CCCTCAGGACAGGACCCCGTCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		514		chr19	TogoVar
CACNG2_chr22_36555857_36708752	36680685	C C	CCTGCATC others(355): Show CCTGCATCATGGCTATAATTACTACCACCATCACCACCACTAACACCACC ATCATTATCACCACCATCTTCATGATCACTGCCACCTGCATCATGGCTAT AATTACCACCATCATCACCACTATACTACCACCACCACCATCACCACAAC CATCGCTACCACCACCACCACCACCATCACCATCATCACCATCACTACTA CTGCCACCACTACCAAAACCACCACCACCACCATCACCACCACCATTGCC ACCACTACCATCACCACCATCACCACCATCACCATCACCACCACTACCAC CATTACCACCATCACCACCACCACCACCACCATCACCATCACCACCACCA TCATCACCACTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0073 a0001c0001t0035g0073	1	214	0.0047	362	c.211 others(381): Show c.211+21680_211+21681insATAGTGGTGATGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTAATGGTGGTAGTGGTGG TGATGGTGATGGTGGTGATGGTGGTGATGGTAGTGGTGGCAATGGTGGTG GTGATGGTGGTGGTGGTGGTTTTGGTAGTGGTGGCAGTAGTAGTGATGGT GATGATGGTGATGGTGGTGGTGGTGGTGGTAGCGATGGTTGTGGTGATGG TGGTGGTGGTAGTATAGTGGTGATGATGGTGGTAATTATAGCCATGATGC AGGTGGCAGTGATCATGAAGATGGTGGTGATAATGATGGTGGTGTTAGTG GTGGTGATGGTGGTAGTAATTATAGCCATGATGCAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(355): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTC GGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTC GGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCG GTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGT GAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0002 a0002c0059t0002	a0002c0059t0002g0065 a0002c0059t0002g0065	1	410	0.0024	362	c.206 others(379): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGG CCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTG CCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCC CGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATAAAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	288	0.0035	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATAAAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01168.hp2 others(4): Show HG00323.hp1 HG00741.hp1 HG01168.hp2 HG01192.hp2 HG02055.hp1 HG02135.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0002g0232 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0283	7	288	0.0243	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATATAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	288	0.0035	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTTTATATAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0002 a0015c0013t0002	a0015c0013t0002g0190 a0015c0013t0002g0190	1	288	0.0035	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATATAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	288	0.0035	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATATAATAT ATATTATATTATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATAAAATATATATT ATATTATATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18939.hp2 NA18974.hp1 others(1): Show HG00673.hp2 NA18939.hp2 NA18974.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0120 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0131	4	288	0.0139	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATAATATATATTATATAAAATATAT ATTATATTATATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(355): Show ATATATAATATATATTATATATAATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATAAAATATATATT ATATTATATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	288	0.0035	362	c.154 others(381): Show c.1546+1146_1546+1147insTAATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATAATATATATTATATAAAATATAT ATTATATTATATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(355): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	288	0.0035	362	c.303 others(381): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(355): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18949.hp1 NA18950.hp2 others(5): Show NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18963.hp1 NA18964.hp1 NA19060.hp2 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0001 a0001c0001t0001g0212 a0001c0001t0001g0223 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0281 a0001c0001t0034g0221	8	316	0.0253	362	c.273 others(379): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384560	C C	CATATATA others(355): Show CATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTA TATATACATATATACGTATGTATGTGTATATATACACATATACGTATGTA TGTGTATATATACACATATACGTATGTATGTGTATATATACACATATACG TATGTATGTGTATATATACACATATACGTATGTATGTGTATATATACACA TATACGTATGTATGTGTATATATACACATATACGTATGTATGTGTATATA TACACATATACGTATGTATGTGTATATATACACATATACGTATGTATGTG TATATATACATATATACGTATGTATGTGTATATATACACATATACGTATG TATGTGTATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	316	0.0032	362	c.273 others(379): Show c.273+4217_273+4218insATATATACACATACATACGTATATGTGT ATATATACACATACATACGTATATATGTATATATACACATACATACGTAT ATGTGTATATATACACATACATACGTATATGTGTATATATACACATACAT ACGTATATGTGTATATATACACATACATACGTATATGTGTATATATACAC ATACATACGTATATGTGTATATATACACATACATACGTATATGTGTATAT ATACACATACATACGTATATGTGTATATATACACATACATACGTATATGT GTATATATACACATACATACGTATATATGTATATATACACATACATACGT ATATATGTATATATACACATACATACGTATATAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CD3G_chr11_118339344_118360161	118355930	C C	CACACATA others(355): Show CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	442	0.0023	362	c.28 others(373): Show c.2830_*2831insACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		770		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355930	C C	CACACATA others(355): Show CACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0101 a0002c0002t0022g0101	1	442	0.0023	362	c.28 others(373): Show c.2830_*2831insACACATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		770		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881918	C C	CTATATAG others(355): Show CTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATA TATAATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19079.hp1 NA19012.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0244 a0001c0004t0001g0008 a0001c0004t0001g0244	2	440	0.0046	362	c.12 others(373): Show c.1258_*1259insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATA GATGTATCTATATATCTATATAGATTATATATCTATATAGATTATATATC TATATAGATGCATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		360		chr13	TogoVar

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