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
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(850): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	76	0.0132	857	c.955 others(874): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(850): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCAGGAAGCCTG CAGACAAACCCACCCTCAACAGACACACAGAGGAGGGCAGGGAGCCTGCA GACAAACCCACCCTCGACAGACACACAGAGCGGGGCAGGGAGCCTGCAGA CAAACCCACCCTCGACAGACACACAGAGCGGGGCGGGAGCCTGCAGACAA ACCCACCCTTGACAGACACACAGAGCGGGACGGGAGCCTGCAGACAAACC CACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAGACAAACCCA CACTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCAGACAAACCCACC CTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAAACCCACCCT CGACAGAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp2 HG01361.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0161 a0001c0001t0002g0162	2	55	0.0364	857	c.297 others(874): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCTGCCCCG CTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCTGCCCTCCT CTGTGTGTCTGTTGAGGGTGGGTTTGTCTGCAGGCTTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTTCCTGCCCTGCTCTGC GTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCTGCCCTCCTCTGTGT GTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCCCTGCCCTGCTCTGTGTGT CTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCTCTGTGTGTCTG TCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCCCGCTCTGTGTGTCTGTCG AGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCTCTGTGTGTCTGTCGAGG GTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTG GGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGT TTGTATGCAGGCTCCCTGCCCTCCTCTGTGTATCGGTCGATGGTGGGTTT GTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(850): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0097 a0001c0001t0046g0097	1	249	0.0040	857	c.165 others(874): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCAA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(850): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	2	0.5000	857	c.162 others(878): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCC CCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTC CTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(850): Show CAGTTTATAGATGATATGGGGGTAGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGC AGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAG CTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATG GAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGG TGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGA TAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGC GGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGC AATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATA TGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTA GGGGGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	13	0.0769	857	c.109 others(876): Show c.109+14824_109+14825insGATATGGGGGTAGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGA TAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGG GCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAG GCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGT GCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGAT AATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGG GGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGT TTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATAT GGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(850): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT TCATCCACCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACATCCATCCATTCATACAT CCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCAT CCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCA TCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCA TCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATCCATCCATCA ACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCA TCCACCAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0076 a0002c0013t0003g0076	1	3	0.3333	857	c.110 others(874): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCAT CCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCA TCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACATCCATCCA TTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCA TTCATTCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCC ACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTC ATCCATCCATCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATC CATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATC CACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(850): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT TCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATC CATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCAT CCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCA CCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCC ACCATCCATCCATCCATCCACCATCCATCCATCCACATCCATCCATTCAT ACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCAT TCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCA TCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCA TCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATCCATCCATCA ACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCA TCCACCAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	3	0.3333	857	c.110 others(874): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCAT CCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCA TCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCA CCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCA TCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCC ATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATT CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACATCCA TCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCA TCCATTCATTCATCCATCCATCCATCCATCCATCCATCCACCATCCATCC ACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTC ATCCATCCATCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATC CATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATC CACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240924426	A A	AGTCCCCA others(850): Show AGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCTCACACTAACCCAGCCCTCACACTAACCCAGC CCCCACACTAACCCGGCCACCCCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAAC CCTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACA CTAACCCG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	173	0.0058	857	c.489 others(874): Show c.489-1297_489-1296insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACC CTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCGG CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCC AGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCACCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCACACTAACCCTAACCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCCACACTAACCCAGCCCCC ACACTAACCCAGTCCCCACACTAACCCGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647319	C C	CCTCCTCC others(850): Show CCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACAC CCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCC ACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCT TCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCT CATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCATCATCC TCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTC CTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTT CACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACA CTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCC TCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACA CCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCT CCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCC TCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTC CTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTT CACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCC CTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCC CCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	261	0.0038	857	c.51 others(868): Show c.5179_*5180insCTCCTCCTCTGCCACACCCCTACTCCTCCTCACC CATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCA CCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCAC ACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCC TCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCT CCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGC ACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGC CTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAA CTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCC CCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCC TCCACCCCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTC CTCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCT CCACACCCCTCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCC GCCTCACCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCC ACATCCCTCCTGCTTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATC CTCCACACTCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTC CTCCACACCCCTCCCCCTCACCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1975		chr15	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(850): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGATG GATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGA GGTGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGTGGAC GGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGAT GGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGG ATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGAT GGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGG ATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGAT GGACAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19240.hp1 HG01358.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	2	103	0.0194	857	c.772 others(872): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCACCTCCCCATTCATCCATCCACCCA CTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCCACC CACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCACCCA CCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCCATC CATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCATCCA TCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCCACC CACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCTCTCCATCCATCCACCCACCCACCCACC CACCTCCCCACCCATCCATCCTTCTATCCATCCATCCATCCATCCATCCA TCCATCCCTCCCCATCCATCCATCCATCCATCTCCCTACCCATTCATCCT TCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(850): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGA GGTGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGTGGAC GGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGAT GGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGG ATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGAT GGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGG ATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGAT GGACAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	102	0.0098	857	c.772 others(872): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCACCTCCCCATTCATCCATCCACCCA CTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCCACC CACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCACCCA CCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCCATC CATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCATCCA TCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCCACC CACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCTCTCCATCCATCCACCCACCCACCCACC TCCCCACCCATCCATCCTTCTATCCATCCACCCATCCATCCATCCATCCA TCCATCCCTCCCCATCCATCCATCCATCCATCTCCCTACCCATTCATCCT TCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(850): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGG GGCAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	13	0.0769	857	c.978 others(874): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC1_chr3_12892043_13078429	12893377	G G	GCAGGCAC others(850): Show GCAGGCACCACCATGCCTGGTTAATGTTTTGATATTGTAGAACAAGGAGG GGCCACATGCTGTGACTCACCCCTGTAATCCCAGCCTGAGCAACACAGTG GAGACCTCCATCTCTACAATATCAAAACATTAACCAGGCATGGTGGTGCC TGGTTAATGTTTTGATATTGTAGAGATGGAGGTCTCACTGTGTTGCTCAG GCTGGGATTACAGGGGTGAGTCACAGCATGTGGCCCCTCCTTGTTCTTTG AAAAGTTCTCAGAGGGTGTGAGAAGAGATTCCAATTCAGGTATTCATCCT CTGGTATTTTCATTTTAGAATGTGTTCTTCCCTATTAACTACATAGAAAA TGACAAAGTGCTTCAGGTCCTACGTATCAGATTGTAATTGGAACACTTTA CTGTGAGGTGGGGGTGGGGTGTGGTTAGGAATAATAGACAAGAAAAGCTT TCCCTGAGGGCCTTGAAAGTCCTGAAGCTCCACGTTAGAAATGAGGGTGG GTGAAGATCACCCACCCTCATTTCTACCGTGGAGCTTCAGGACTTTCAAG GCCCTCAGGGAAAGCTTTTCTTGTCTATTATTCCTAACCACACCCCACCC CCACCTCCACAGTAAAGTGTTCCAATTAAATCTGATACGTAGGACTGAAG CACTTTGTCATTTTCTATGTAGTTAATAGGGAAGAACACATTCTAAAATG AAAATACCAGAGGATAATACCTGAATTGGAATCTCTTCTCACACCCTCTG AGAACTTTTCAAAGAAACAAGGAGGGGCCACATGCTGTGACTCACCCCTG TAATCCCAGCCTGAGCAACACAGTGAGACCTCCATCTCTACAATATCAAA ACATTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0112 a0001c0001t0024g0112	1	248	0.0040	857	c.76 others(868): Show c.7605_*7606insGTTAATGTTTTGATATTGTAGAGATGGAGGTCTC ACTGTGTTGCTCAGGCTGGGATTACAGGGGTGAGTCACAGCATGTGGCCC CTCCTTGTTTCTTTGAAAAGTTCTCAGAGGGTGTGAGAAGAGATTCCAAT TCAGGTATTATCCTCTGGTATTTTCATTTTAGAATGTGTTCTTCCCTATT AACTACATAGAAAATGACAAAGTGCTTCAGTCCTACGTATCAGATTTAAT TGGAACACTTTACTGTGGAGGTGGGGGTGGGGTGTGGTTAGGAATAATAG ACAAGAAAAGCTTTCCCTGAGGGCCTTGAAAGTCCTGAAGCTCCACGGTA GAAATGAGGGTGGGTGATCTTCACCCACCCTCATTTCTAACGTGGAGCTT CAGGACTTTCAAGGCCCTCAGGGAAAGCTTTTCTTGTCTATTATTCCTAA CCACACCCCACCCCCACCTCACAGTAAAGTGTTCCAATTACAATCTGATA CGTAGGACCTGAAGCACTTTGTCATTTTCTATGTAGTTAATAGGGAAGAA CACATTCTAAAATGAAAATACCAGAGGATGAATACCTGAATTGGAATCTC TTCTCACACCCTCTGAGAACTTTTCAAAGAACAAGGAGGGGCCACATGCT GTGACTCACCCCTGTAATCCCAGCCTGAGCAACACAGTGAGACCTCCATC TCTACAATATCAAAACATTAACCAGGCACCACCATGCCTGGTTAATGTTT TGATATTGTAGAGATGGAGGTCTCCACTGTGTTGCTCAGGCTGGGATTAC AGGGGTGAGTCACAGCATGTGGCCCCTCCTTGTTCTACAATATCAAAACA TTAACCAGGCATGGTGGTGCCTG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		3665		chr3	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(850): Show TAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGC GCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTG GATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCC TGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTG TAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGG AGGCGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGG CAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATA ATAATGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTG GGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTT GGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAG GTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGA AGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGC CAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAA AATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCG GTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACT CTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0000 a0001c0001t0028g0000	1	311	0.0032	857	c.-30 others(868): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTA TTGAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAAT CTTGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCT CAGCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTA ATTTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGG TCTTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCT GGGATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTA TTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79886216	T T	TGGGGACG others(850): Show TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGGACGT GGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACAGGAACATGGGGACACGGGACAGGGAGATGGGGATGG GAGCATAGGGACGTGGGGACGGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGAACATGGGGACA CAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGAACAT GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGGACATGGGGACACGGGACAGGGAGATGGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATA GGGACGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0250	1	310	0.0032	857	c.625 others(876): Show c.625-12780_625-12779insGACGTGGGGACGGGGACATGGGGACA CGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGAACAT GGGGACACGGGACAGGGAGATGGGGATGGGAGCATAGGGACGTGGGGACG GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGAACATGGGGACACAAGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGAACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGAC ACGGGACAGGAGATGGGGATGGGAACATAGGGACGTGGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(850): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCACTCCTCTCCCTCTCACTCCTCTCCCTCT CCCTCTCCCTCTCACTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCT CTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0080 a0006c0007t0009g0080	1	354	0.0028	857	c.-27 others(868): Show c.-2761_-2760insTGAGGGAGAGGGAGAGTGAGGGAGAGGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGTGAGAGGGAGAGGGAGAGGGAGAGGAGTGAGAGGGAGAGG AGTGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGTA others(850): Show GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGG GGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	198	0.0051	857	c.624 others(874): Show c.624+9133_624+9134insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGAC AGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTC AGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGG TGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGG TGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGG GGGGGTAGGGAGGATTTCAGGTGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(850): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAG GTGATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGA TGATGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTA GTCGAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGT GGAGGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA ATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGAT GGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA GAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAA AGTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGAAGGTGATGGTGG TGGTGGTAGAGGTGATGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTG GTGATGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTTGAGGGTGTGGT GGTAGTGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	109	0.0092	857	c.480 others(876): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCAACCATCACCACCATCACTTTCACTACCACCATCATC ACCACCATCACCTCCACCATTACCATCACCTCTACCATCACCTCTACCAC CACCACCATCACCTTCACTACCACCACACCCTCTGCCATCACCACCACCA CCATCACCTTCACTACCACCACACCCTCCACCATCACCACCATCACTTTC ACTACCACCATCACCACCATCACCTCCACCATTACCATCACCTCTACCAC CACCACCATCACCTTCACTACCACCACACCCTCCACCATCACCACCACCA CCATCATGATCATCTCCACCACCATCACCTCCACTACCATCACCTCCACC ACCACCACCATCACTACCACCATCACCTCGACTACCATCACCACCACCAC CATCACCTTCACTACCACCATCATTTCCATCATCGCCACCACCTCCTGTC ACCATCACCCCCACCACCACCATCACCATCACCTCTATCACCATCACCTC TACCAACACCATCACCACCACCACCACCATAACCTCTACCATCACCACTA CCATCACCATCTCCACCCCCACCACCACTATCACCACCTCCACCCCCACC ATCACCACCACCACCATAACCTCTACCACCAGCACCTCCACCACCACCAT CACCATCACCACCTCCATCCCCACCACCACCCCCCACCACCATCACCACC ACCATCACCAGCACCACCACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(850): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCCTCTCCTCCGCTCCCC TCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTC TCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTC TCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCT CCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCT CCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCT CCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTT GCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0140 a0001c0004t0003g0140	1	125	0.0080	857	c.-49 others(868): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGAGAGGAGCGGAGGAGAGGGGAGGGGAG CGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAG CGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAG GGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGA GAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGA GCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCAGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCA GTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGG AGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	8	0.1250	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCTGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	8	0.1250	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCTCCTCCTCTTTTCCCTCCTCCCCATCC TTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGA GAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAG GGTGAGGAGGAGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGT CCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCC CTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCC TTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGAGGAGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCA GTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGG AGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	8	0.1250	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCTCCTCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCC TCCTCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(850): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAAT GCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	135	0.0074	857	c.301 others(872): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCAGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACG CTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGA AGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(850): Show ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATAT AAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATA TGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAA TCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTT TTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTT ATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTAT ATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTT TATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATAT ATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATA TATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAA AATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATG TTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATC TTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTT ATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTAT TTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATAT ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG01109.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0010 a0003c0004t0001 a0003c0004t0010	a0003c0004t0001g0063 a0003c0004t0001g0065 a0003c0004t0001g0067 others(1): Show a0003c0004t0001g0063 a0003c0004t0001g0065 a0003c0004t0001g0067 a0003c0004t0010g0066	4	266	0.0150	857	c.-5+ others(872): Show c.-5+3122_-5+3123insAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAA GATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAA CATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATT TTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATA TATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTAT ATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATA AAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATAT ATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAAT AAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAA AACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGA TTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACA TATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTT ATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATA TAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATAT ATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAA ATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(850): Show TTCCATACATATACATACATGGTATATATTCCATACATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATACATAC ATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATATACATACATGGTATATATTCCA TATATATATACACATACATGGTATATATTCCATATATATATACACATACA TGGTATATATTCCATATATATATACACATACATGGTATATATTCCATATA TATATACACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATACATACATGGTATATATTCCATATATACATACATG GTATATATTCCTATATATACATACATGGTATATATTCCAATATATACATA CATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATA TATACATACATGGTATATATTCCATATATATACATACATGGAATATATAT ATTCCATACATGGAATATATATATTCCATACATGGAATATATATATTCCA TATATACATATATATATTCCATATATACACATATATATATTCCATATATA CACATATACATGGAATATATATCTGTATATATATGGAATATATATATGTA TATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTAT AAATATATATTATGTATATATATTTATATTATAAATATATATTATGTATA TATTTATAATATAAATATATATTATGTATATATATTTATATTATAAATAT ATATTATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	36	0.0278	857	c.474 others(876): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ATACATACATGGTATATATTCCATATATATATACACATACATGGTATATA TTCCATATATATATACACATACATGGTATATATTCCATATATATATACAC ATACATGGTATATATTCCATATATATATACACATACATGGTATATATTCC ATATATATATACACATACATGGTATATATTCCATATATACATACATGGTA TATATTCCATATATACATACATGGTATATATTCCTATATATACATACATG GTATATATTCCAATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATAT ATATACATACATGGAATATATATATTCCATACATGGAATATATATATTCC ATACATGGAATATATATATTCCATATATACATATATATATTCCATATATA CACATATATATATTCCATATATACACATATACATGGAATATATATCTGTA TATATATGGAATATATATATGTATATATATGAAATATATATGTATATGTA TTTATATTATGTATTTATATTATAAATATATATTATGTATATATATTTAT ATTATAAATATATATTATGTATATATTTATAATATAAATATATATTATGT ATATATATTTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(850): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGG GATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGA CAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCA GGGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGG TGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACA GTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGA GGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTG GGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0310 a0001c0008t0003g0310	1	139	0.0072	857	c.141 others(874): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCC CCCCCTCACCGTCCCTGCCCATCCCCCCCCTCACCGTCCCTGCCCATCCC CCCCGCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCA CTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCC CATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCCGCACCGTCCCTGCCC ATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPTC_chr1_203489153_203513949	203500071	A A	ACCTCTAC others(850): Show ACCTCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCA CCCACCACCACCACCACCACCACCCACCTACACCACCTACCACTACCACC ACCACCTACCTCCATCACCTACCACCACCACCACCACCCACCTCCACCTC CACCACACACCTCCACCACCTACCACTGCCACCACCACCACCTACCTCCA CCACCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCC ACCACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTAC CTCCACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTAC CACCACCACCACCACCCACCTCCACCACCTACCACTGCCACCACCACCAC CCACCTCCACCACCACCACCCACCTCCACCTCCACCACCCACCTCCACCT CCAGCACCCACCTCCACCCCTACCACCACCCACCACCACCACCACCCACC TCCACCACCTACCACCACCACCACCACCTACCTCCACCACCACCCACCTC CACCACCACCACCACCCACCTCCACCCCTACCACCACCACCACCACCCAC CTCCACCACCTACCACTGCCACCACCACCACCCACCTCCACCACCACCAC CCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCACCA CCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCCACC CCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCACCAC CACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCCA CCTCCACC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18944.hp2 HG02165.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	5	0.4000	857	c.732 others(872): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCCACCACCACCACCACCACCACCCACCTACACC ACCTACCACTACCACCACCACCTACCTCCATCACCTACCACCACCACCAC CACCCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCA CCACCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCC ACCCCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCAC CACCACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCAC CCACCTCCACCCCTACCACCACCACCACCACCCACCTCCACCACCTACCA CTGCCACCACCACCACCCACCTCCACCACCACCACCCACCTCCACCTCCA CCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCCACC ACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTACCTC CACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTACCAC CACCACCACCACCCACCTCCACCACCTACCACTGCCACCACCACCACCCA CCTCCACCACCACCACCCACCTCCACCTCCACCACACACCTCCACCACCT ACCACTGCCACCACCACCACCTACCTCCACCACCACCCACCTCCACCTCC AGCACCCACCTCCACCCCTACCACCACCCACCACCACCACCACCCACCTC CACCACCTACCACCACCACCACCACCTACCTCCACCACCACCCACCTCCA CCACCACCACCACCCACCTCCACCCCT	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946830	A A	AGGAGATG others(850): Show AGGAGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGAGGGAGAGAAGGAG AGGGGAGAGAGAAGGGGAGGAGGGAGACAAGGGGGTGAGAAGGGGAGGGG GAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGA GAGGGGGAGGAGAGGGGGAGGGGGAGGAGAGGGGTGAGAGAAGGGAGAGG GGGAGAGGAGGGAGAGGAAGGGGAGAGAGGGGTGAGAAGGGGAGAGAGGG GAGAGAAGGGGAGGAGAAGGGGGAGAGGGGGGGAGAGGGGGAGAGGTGGG GGAGGAGGGGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGAGGAGGGGAGGAGGGGGGAGGAGGGGGAGTGGAGGGGGGGTGGG GGGGGAGGGGGGAGGGGGAGAGGGAGGGGGGAGGAGGGGGGGGGGAGGAG GGGAGAGGGGGAGGAGGGGGAGAGGGTGGGAGGAGGGGAGAGGGGGGAAG TGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCG AGTGTGAGAGAGAGAGGCGAGTGAGAGAGAGAGCAGGTGAGAGAGAGGGC GAGAGAAAGAGAGGGTGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAG AGGGCGAGAGGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGG GGCGGGTAGGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAG AGAGAGAGAGAGAGAGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGA GAGAGAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGGAGAG AAAGAGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0029 a0029	a0029c0034 a0029c0034	a0029c0034t0001 a0029c0034t0001	a0029c0034t0001g0006 a0029c0034t0001g0006	1	306	0.0033	857	c.371 others(874): Show c.3718+661_3718+662insCCCTCTTTCTCTCCCCTCTTTCTCTCCC TCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCTCTC TCTCTCTTGCCCGCCTCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCT CTCTTGCCCACCCTCTCTCTCCTACCCGCCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCCTCTCGCCCTCTCTCTCTCTCGCCCTCGCC CTCTCTCTCTTGCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCTC TCTCTCTCACTCGCCTCTCTCTCTCACACTCGCCCTCTCTCACCCGCCCT CTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCCTCTCCCCTCCT CCCACCCTCTCCCCCTCCTCCCCCTCTCCCCTCCTCCCCCCCCCCTCCTC CCCCCTCCCTCTCCCCCTCCCCCCTCCCCCCCCACCCCCCCTCCACTCCC CCTCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTCCT CCCCCTCCCCCTCTCCCCCTCCCCTCCTCCCCCACCTCTCCCCCTCTCCC CCCCTCTCCCCCTTCTCCTCCCCTTCTCTCCCCTCTCTCCCCTTCTCACC CCTCTCTCCCCTTCCTCTCCCTCCTCTCCCCCTCTCCCTTCTCTCACCCC TCTCCTCCCCCTCCCCCTCTCCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCACCCCC TTGTCTCCCTCCTCCCCTTCTCTCTCCCCTCTCCTTCTCTCCCTCCCTTC TCTCCCCATCCCCTTCTCTCCCCATCTCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(850): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGATGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGAT GGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGG TGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATG ATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGAT GGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGT GATTCAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	70	0.0143	857	c.438 others(876): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGAT GGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGA TGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATG GTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGAT GGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGA TGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(850): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGAT GGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGG TGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATG ATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGAT GGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGT GATTCAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0123 a0002c0003t0004g0123	1	70	0.0143	857	c.438 others(876): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGAT GGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGA TGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATG GTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGAT GGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGA TGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(850): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02886.hp2 others(2): Show HG01884.hp1 HG02280.hp2 HG02886.hp2 NA19089.hp2 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0006c0008	a0001c0001t0002 a0001c0002t0001 a0003c0005t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0003c0005t0001 a0006c0008t0001	a0001c0001t0002g0150 a0001c0002t0001g0079 a0003c0005t0001g0053 others(1): Show a0001c0001t0002g0150 a0001c0002t0001g0079 a0003c0005t0001g0053 a0006c0008t0001g0037	5	177	0.0282	857	c.135 others(874): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD11_chr1_918923_949574	934153	A A	AGGCGGCT others(850): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTCCGTTACAGGTGG GCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCAGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0257 a0009c0014t0004g0257	1	405	0.0025	857	c.843 others(874): Show c.843-1597_843-1596insGGGGGGGGGCGGCTCCGTTACAGGTGGG CAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCAGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0267 a0001c0007t0012g0267	1	42	0.0238	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 NA18522.hp2 others(1): Show HG02280.hp2 HG02572.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0007t0004 others(1): Show a0001c0002t0002 a0001c0007t0002 a0001c0007t0004 a0001c0007t0014	a0001c0002t0002g0021 a0001c0007t0002g0020 a0001c0007t0004g0122 others(1): Show a0001c0002t0002g0021 a0001c0007t0002g0020 a0001c0007t0004g0122 a0001c0007t0014g0135	4	45	0.0889	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	42	0.0238	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCATTCCCTC CTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCT TCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCT CCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCT CCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCT TCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTC CTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCT CTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0287 a0001c0008t0004g0287	1	42	0.0238	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTC CTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTT CTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCC CCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCT CCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTC CCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTC TTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCT CCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(850): Show GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	227	0.0044	857	c.166 others(874): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(850): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGAAGGGAGAAGGAGGGATGG AGAAGGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGG AGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGGGGGAGGCAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGG AGGGAGAAAGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAAGG AGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGA AGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAG AGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAG GAGGGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0001 a0001c0024t0001 a0001c0003t0001 a0001c0024t0001	a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0024t0001g0058 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0024t0001g0058	3	96	0.0313	857	c.206 others(876): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCC TCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTT CTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCCCC TTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGC CTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTGCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCATCCCTCCTTCTCCCT TCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCAT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(850): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0211 a0001c0001t0025g0211	1	3	0.3333	857	c.597 others(874): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCC TTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(850): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(29): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01192.hp2 HG01243.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG03516.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18747.hp2 NA18947.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp2 NA18982.hp2 NA19005.hp1 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0001t0055 a0001c0001t0086	a0001c0001t0001g0081 a0001c0001t0002g0021 a0001c0001t0002g0022 others(29): Show a0001c0001t0001g0081 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0003g0060 a0001c0001t0004g0088 a0001c0001t0005g0284 a0001c0001t0008g0244 a0001c0001t0012g0114 a0001c0001t0022g0076 a0001c0001t0023g0036 a0001c0001t0023g0066 a0001c0001t0029g0043 a0001c0001t0031g0024 a0001c0001t0031g0085 a0001c0001t0039g0073 a0001c0001t0055g0020 a0001c0001t0086g0302	32	34	0.9412	857	c.597 others(874): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(850): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	3	0.3333	857	c.597 others(874): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(850): Show CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCTGTGACCGATCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0339 a0001c0001t0001g0302 a0001c0001t0001g0339	2	99	0.0202	857	c.228 others(876): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAG GGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(850): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCACATGATGATATGATACTA TATCATCACATGATGATATGATACTATATCATCACATGATGATATGATAC TATATCATCACATGATGATATGATACTATATCATCACATGATGATATGAT ACTATATCATCACATGATGATATGATACTATATCATCACATGATGATATG ATACTATATCATCACATGATGATATGATACTATATCATCACATGATGATA TGATACTATATCATCACATGATGATATGATACTATATCATCACATGATGA TATGATACTATATCATCACATGATGATATGATACTATATCATCACATGAT GATATGATACTATATCATCACATGATGATATGATACTATATCATCACATG ATGATATGATACTATATCATCACATGATGATATGATACTATATCATCACA TGATGATATGATACTATATCATCACATGATGATATGATACTATATCATCA CATGATGATATGATACTATATCATCACATGATGATATGATACTATATCAT CACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0081 a0001c0002t0039g0081	1	87	0.0115	857	c.41- others(874): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCACATGATGATATGATACTATATCATC ACATGATGATATGATACTATATCATCACATGATGATATGATACTATATCA TCACATGATGATATGATACTATATCATCACATGATGATATGATACTATAT CATCACATGATGATATGATACTATATCATCACATGATGATATGATACTAT ATCATCACATGATGATATGATACTATATCATCACATGATGATATGATACT ATATCATCACATGATGATATGATACTATATCATCACATGATGATATGATA CTATATCATCACATGATGATATGATACTATATCATCACATGATGATATGA TACTATATCATCACATGATGATATGATACTATATCATCACATGATGATAT GATACTATATCATCACATGATGATATGATACTATATCATCACATGATGAT ATGATACTATATCATCACATGATGATATGATACTATATCATCACATGATG ATATGATACTATATCATCACATGATGATATGATACTATATCATCACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATATAACATGATGATATGATACTATATCATCATATAA CATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ABR_chr17_998519_1184981	1173156	C C	CCCCATCA others(851): Show CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCA CCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACA CATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACATCAC CTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCC CCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACA TCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCT CAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCC ACCCCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACATCACCT CAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATC ACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0108 a0001c0002t0011g0108	1	305	0.0033	858	c.61+ others(873): Show c.61+6510_61+6511insTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGG GGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACT GAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGGGTGGACTGAGGTGATGTGTTGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGACTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1464277	A A	ACACACGC others(851): Show ACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGCGGGCAGTG CGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCA GTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCAC ACACGCGCGGGGGCCAGTCACAGCGGGCAGTGCACCGGAGAAGAGGGTGG ACACACACTCCCCCACACACGTGCTGGGGACAGTCACAGCGGGCAGCGCG CTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCAGT CACAGTGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCACAC ACGCGCGGGGGGCAGTCACAGCAGGCAGCGCGCCGGAGAAGAGGGTGGAC ACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCT GGAGAAGACGGTGGACACACACTCCCCCGCACACGCGCTGGGGGCAGTCA CAGCGGGCAGCGCGCTGGAGAAGAGGGTGGACACACACTCCCCCACACAC GCGCTGGGGGCAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACAC ACACTCCCCCACACACGCGCTGGGGACAGTCACAGCGGGCAGCGTGCTGG AGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCAGTCACA GCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGC GCTGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGTGGACACAC ACTCCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0061 a0002c0002t0005 a0001c0001t0061 a0002c0002t0005	a0001c0001t0061g0087 a0002c0002t0005g0028 a0001c0001t0061g0087 a0002c0002t0005g0028	2	106	0.0189	858	c.101 others(877): Show c.101-85118_101-85117insCGGGGGAGTGTGTGTCCACCCTCTTC TCCAGCACGCTGCCCACTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTGCCCCCAGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCT GTGACTGTCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CGGCGCACTGCCCGCTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTG TGTCCACCCTCTTCTCCAGCGCGCTGCCCGCTGTGACTGCCCCCAGCGCG TGTGCGGGGGAGTGTGTGTCCACCGTCTTCTCCAGCACGCTGCCCACTGT GACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCG GCGCGCTGCCTGCTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTG TCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTG TGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCGCGCTGCCCGCTGTGA CTGTCCCCAGCACGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGT GCACTGCCCGCTGTGACTGGCCCCCGCGCGTGTGTGGGGGAGTGTGTGTC CACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTGCCCCCAGCGCGTGTG TGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGTGACT GCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCAC GCTGCCCACTGTGACTGCCCCCCGCGCGTGTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159113	T T	TACATGTA others(851): Show TACATGTATATATTATATATTATATGTTTATATATTATATGTATATATTA TATATTATATATTATATATTATATATTATATATTATATATATTATATACA TATAATATATATTCTCATATATATTATATATACTCATATATATAATATAT ATTCTCATATATATTATATATATTCATATATATAATATATATTCTCATAT ATATATATTATATATTCTCATATATATAATATATATATTCTCATATATAA TATATATTCTCATATATATAATATATACTCATATATTATATATATACTCA TATATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATA ATATATATTCTCATATATAATATATATTCTCATATATGACATATATATAT TCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAATA TATTATATATTCTCATATATAATATATTATATGTGCTCATATATAATATA TTATATGTGCTCATATATAATATATTATATATGCTCATATATAATATATT ATATATGCTCATATATAATATATTATATATGCTCATATATAATATATTAT ATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATATTATATATGCTCA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAATATA TTATGTATGCTCATATATAATATATTATGTATGAGCATATATAATATATT ATGTATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0026 a0004c0004t0026	a0004c0004t0026g0000 a0004c0004t0026g0000	1	119	0.0084	858	c.10 others(871): Show c.10490_*10491insCTCATACATAATATATTATATATGCTCATACA TAATATATTATATATGAGCATACATAATATATTATATATGAGCATACATA ATATATTATATATGAGCATACATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATGAGCATATATAATATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCACATATAATATATTATATATGAGCACATATA ATATATTATATATGAGAATATATAATATATTATATGAGAATATATATTAT ATATGAGAATATATAATATATATGAGAATATATATATGTCATATATGAGA ATATATATTATATATGAGAATATATATTATATAAATGAGAAAATATATAT TATATATTAGAATATATACATTATATATGAGTATATATATAATATATGAG TATATATTATATATATGAGAATATATATTATATATGAGAATATATATATT ATATATATGAGAATATATAATATATATATATGAGAATATATATTATATAT ATGAATATATATAATATATATGAGAATATATATTATATATATGAGTATAT ATAATATATATGAGAATATATATTATATGTATATAATATATATAATATAT AATATATAATATATAATATATAATATATAATATATACATATAATATATAA ACATATAATATATAATATATACATGT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2565		chr13	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(851): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATTTAAAAT TCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCA CTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACC AGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01257.hp2 others(12): Show HG00438.hp1 HG00609.hp1 HG01257.hp2 HG02523.hp1 NA18943.hp1 NA18944.hp1 NA18964.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA18993.hp2 NA19009.hp1 NA19074.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0035 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0009g0202 a0001c0001t0009g0203	15	41	0.3659	858	c.94+ others(873): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATGTATTTTTTTTTTTTTTTTAAATATATATTCTTT TTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACC ATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTC AGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAA TTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGT TGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCG GCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGAT AAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAA TTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTT TTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTT TCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCC GCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(851): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	76	0.0132	858	c.955 others(875): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(851): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0056 a0056	a0056c0083 a0056c0083	a0056c0083t0003 a0056c0083t0003	a0056c0083t0003g0037 a0056c0083t0003g0037	1	194	0.0052	858	c.300 others(875): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

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