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
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(777): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG GGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGC AGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGC CGCAGAGACCCACCACAGAGCCAGGCAGGAGTCGGAGCCACGGAGCCAGG CAGGAACTGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCAGAG CCACAGAGACCAGCCATGGAGCCAGGCAGGAGCCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	156	0.0064	784	c.711 others(803): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCC TGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCTGGCCCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTG CCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCATG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGTTCCT GCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGT GGCTGGTCCCTGTGGCTCCAGTTCCTGCCTGGCTCCGTGGCTCCGACTCC TGCCTGGCTCTGTGGTGGGTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCAGCCCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCCGGCTCCTCCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCT CCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCTGGCTCCTGCCTGGCTC CATGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(777): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTT CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCT CCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCT CCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	2	0.5000	784	c.162 others(805): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(777): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTT CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCT CCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCT CCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0134 a0001c0003t0033g0134	1	2	0.5000	784	c.162 others(805): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSF2RA_chrX_1263814_1314935	1297569	G G	GACCCCTA others(777): Show GACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGTCCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGAGTA ACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC TGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCA TGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTC CTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTA CAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCTACTCACGA CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTC CCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGC AGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGAC CCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTA CAATCCCCTACTCACAACCCCCGGTGGAACCCCTACAGTCTCCTACCCAT GACCCCTGGTGGAACCCTACAGTCCCCTACTCACA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	117	0.0085	784	c.810 others(801): Show c.810+2122_810+2123insCTCTCCTACCCATGACCCGTGGCGGAAC TGTACAGTCCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCT GGAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCAT GACCCCTGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGT CCCTACTCACGACCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCTACACTCTCCTACCCATGACCCCTGGCGG AACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCC CTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCC ATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCT CCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGT AGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCCTACAG TCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACAACC CCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	478086	G G	GGGGAAAA others(777): Show GGGGAAAAGAAGAGAGGGGAAGGGAGGGGAAGAGAGGGGAAAAGAAGAGA GGGGAAGGGAGGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGA GGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAGGGGAGGGGAAAAGA AGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGGGAAAAGAAGAGGGGAAG GGAGAGGAGGGGAGGGGAAAAGAAGAGGGGAAGGGAGAGGAGGGGAGGGG AAAAGAAGAGAGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAAGAA GGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGAGAGAAGAAGGGAG GGGAAGGGAGAGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGAGAGAAGA AGGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGGGAAAGGGAGGGG AAGGAAGGGGAAGGGAGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGAG AGAAGAAGGGAGGGGAAGGAAGGGGAAGGGAGGGGAAGGGAGGGGAGGAG AGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGG AGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGGG AGGAGGAGGGAGGGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGAG GGAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGAGG GGAGGAGGAGGGAGGGGAGGAGGAGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0081 a0001c0021t0002g0081	1	82	0.0122	784	c.158 others(801): Show c.158-5538_158-5537insTCCTCCTCCCCTCCTCCTCCCCTCCCTC CTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCT CCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCCCTCCC TCCTCCTCCCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTC CTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCC TCCTCCTCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTTCCTTCCCCTCCC TTCTTCTCTCCTCCCTTCCCTTCTCCTCCCTTCCCCTCTCCTCCCTTCCC CTTCCTTCCCCTCCCTTTCCCTCCCTTCTTCTCTCTTCCCTCTCCCTTCC CCTCCCTTCTTCTCTCTCCCTTCTTCTCTCTTCCCTCTCCCTTCCCTCTC CCTTCCCCTCCCTTCTTCTCTCTCCCTTCTTCTCTCTTCCCTCTCCCTTC CCCTCCCTTCTTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCTCTC TTCTTTTCCCCTCCCCTCCTCTCCCTTCCCCTCTTCTTTTCCCCTCCCCT CCTCTCCCTTCCCCTCTTCTTTTCCCCTCCCCTCCTCTCCCCTCCCTTCC CCTCTCTTCTTTTCCCCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCC CCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCC CTTCCCCTCTCTTCTTTTCCCCTCTCTTCCCCTCCCTTCCCCTCTCTTCT TTTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
ERICH1_chr8_659200_736224	659649	G G	GCATCCTG others(777): Show GCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTG GGGAGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGG AGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGG GGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTG ACCATCGAGATCTCCAGTGTGCACTGACCATCCTGGGGAGGGGGTGACCA TCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGA GATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATC TCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCG ATGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGT GCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGATGTGCAC TGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAA TATCCTGGGGAGGGGGGTGACGATCGAGATCTCCAGGGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	313	0.0032	784	c.49 others(795): Show c.4953_*4954insGTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCC CCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAG GATGGTCAGTGCACCCTGGAGATCTCGATCGTCACCCCCCTCCCCAGGAT ATTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTC AGTGCACATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTG CACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACA TCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGG AGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGAT CTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCG ATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACTGGAGATCTCGATGG TCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCAC CCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCC TCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCCTCC CCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAG GATGGTCAGTGCACACTGGAGATCTCGATGGTCACCCCCTCCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4550		chr8	TogoVar
EXD3_chr9_137301896_137428162	137329823	G G	GGGACTAC others(777): Show GGGACTACACGGGGCTACACGGGACTACACGGGGTGACACGGGACTACAC GGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACA CGGGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTAC ACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTA CACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGC TACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGG CTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGG ACTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACGG GGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTACACG GGACTACACGGGACTACACGGGACTACACAGGGTCACACGGGACTACACG GGACTACACGGGACTACACAGGAACTACACAGGGTCACACAGGACTACAC CGGAGCTACACGGGACTACACAGGACTACACAGGACTATGCAGGACCACA CAGGAGCTATACAGGAGCTACACGGGACTACACAGGACTACACGGGACTA CACCGGAACTACACAGGGTCACACAGGACTACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	15	0.0667	784	c.199 others(803): Show c.1999-5681_1999-5680insTGTGTAGTCCTGTGTGACCCTGTGTA GTTCCGGTGTAGTCCCGTGTAGTCCTGTGTAGTCCCGTGTAGCTCCTGTA TAGCTCCTGTGTGGTCCTGCATAGTCCTGTGTAGTCCTGTGTAGTCCCGT GTAGCTCCGGTGTAGTCCTGTGTGACCCTGTGTAGTTCCTGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAG CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTA GCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTG TAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCG TGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCG TGTAGCCCCGTGTAGTCCCGTGTCACCCCGTGTAGTCCCGTGTAGCCCCG TGTAGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM135B_chr8_138125023_138502261	138206229	A A	ACACAACT others(777): Show ACACAACTCCAGCATCCCCTCCATCTACCCACAGCTCTATCATACCCTCC ACCTACACACAACTCTATCATCCCCTCCACCTACACACAACCCTATCATC TCCTCCACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAGTTCT ATCATCCCCTCCACCTACACACAACTCTATCATTCCCTCCACCTACACAC AACTCCAACATCCCCTCCACCTACCCACAGCTCTATCATCCCCTCCACCT ACACACAGCTCTATCATCCCCTCCACCTACCCACAGCTCTATCATCCCCT CCACCTATACACAGCTCTATCATCCCCTCCACCTACACACAATTCTATCA TCCCCTCCACCTACACACAACTCCAGCATCCCCTCCACCTACACACAGCT CTATCATCCCCTCCACCTACCCACGGCTCTATCATCCCCTCCACCTACAC ACAACTCCAGCATCCCCTCCACCTACCCACAACTCCATCATCCCCTCCAC CTACACACAGCTCTATCATCCCCTCGACCTACCCACAGCTCTATCATCCC CTCCATCTACACACAACTCCAGCATCCCCTCCACCTACACACAACGCTAT CATCCCCTCTACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAG TTCTATCATCCCCTCCACCTACACACAACTCTATCATCCCCTTGATCTAT GCACAGCTCTATCATCCCCTCCACCTACCCACAACTCTATCATTCCCTCC ACCTACACACAACTCCAACATCCCCTCCACCTACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02976.hp2 HG02559.hp1 HG02723.hp2 HG02976.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0004 a0003c0001t0006 a0003c0001t0031 a0003c0001t0004 a0003c0001t0006 a0003c0001t0031	a0003c0001t0004g0019 a0003c0001t0006g0174 a0003c0001t0031g0126 a0003c0001t0004g0019 a0003c0001t0006g0174 a0003c0001t0031g0126	3	208	0.0144	784	c.670 others(801): Show c.670-8561_670-8560insGGTAGGTGGAGGGGATGTTGGAGTTGTG TGTAGGTGGAGGGAATGATAGAGTTGTGGGTAGGTGGAGGGGATGATAGA GCTGTGCATAGATCAAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGAT GATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGGTAGA GGGGATGATAGCGTTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTA GATGGAGGGGATGATAGAGCTGTGGGTAGGTCGAGGGGATGATAGAGCTG TGTGTAGGTGGAGGGGATGATGGAGTTGTGGGTAGGTGGAGGGGATGCTG GAGTTGTGTGTAGGTGGAGGGGATGATAGAGCCGTGGGTAGGTGGAGGGG ATGATAGAGCTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTAGGTG GAGGGGATGATAGAATTGTGTGTAGGTGGAGGGGATGATAGAGCTGTGTA TAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGATAGAGC TGTGTGTAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGT TGGAGTTGTGTGTAGGTGGAGGGAATGATAGAGTTGTGTGTAGGTGGAGG GGATGATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGG TGGAGGAGATGATAGGGTTGTGTGTAGGTGGAGGGGATGATAGAGTTGTG TGTAGGTGGAGGGTATGATAGAGCTGTGGGTAGATGGAGGGGATGCTGGA GTTGTG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138206229	A A	ACACAACT others(777): Show ACACAACTCCAGCATCCCCTCCATCTACCCACAGCTCTATCATACCCTCC ACCTACACACAACTCTATCATCCCCTCCACCTACACACAACCCTATCATC TCCTCCACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAGTTCT ATCATCCCCTCCACCTACACACAACTCTATCATTCCCTCCACCTACACAC AACTCCAACATCCCCTCCACCTACCCACAGCTCTATCATCCCCTCCACCT ACACACAGCTCTATCATCCCCTCCACCTACCCACAGCTCTATCATCCCCT CCACCTATACACAGCTCTATCATCCCCTCCACCTACACACAATTCTATCA TCCCCTCCACCTACACACAACTCCAGCATCCCCTCCACCTACACACAGCT CTATCATCCCCTCCACCTACCCACGGCTCTATCATCCCCTCCACCTACAC ACAACTCCAGCATCCCCTCCACCTACCCACAACTCTATCATCCCCTCCAC CTACACACAGCTCTATCATCCCCTCGACCTACCCACAGCTCTATCATCCC CTCCATCTACACACAACTCCAGCATCCCCTCCACCTACACACAACGCTAT CATCCCCTCTACCTACACACAACTCCAGCATCCCCTCCCCCTACACACAG TTCTATCATCCCCTCCACCTACACACAACTCTATCATCCCCTTGATCTAT GCACAGCTCTATCATCCCCTCCACCTACCCACAACTCTATCATTCCCTCC ACCTACACACAACTCCAACATCCCCTCCACCTACC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0148 a0001c0018t0002g0148	1	206	0.0049	784	c.670 others(801): Show c.670-8561_670-8560insGGTAGGTGGAGGGGATGTTGGAGTTGTG TGTAGGTGGAGGGAATGATAGAGTTGTGGGTAGGTGGAGGGGATGATAGA GCTGTGCATAGATCAAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGAT GATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGGTAGA GGGGATGATAGCGTTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTA GATGGAGGGGATGATAGAGCTGTGGGTAGGTCGAGGGGATGATAGAGCTG TGTGTAGGTGGAGGGGATGATAGAGTTGTGGGTAGGTGGAGGGGATGCTG GAGTTGTGTGTAGGTGGAGGGGATGATAGAGCCGTGGGTAGGTGGAGGGG ATGATAGAGCTGTGTGTAGGTGGAGGGGATGCTGGAGTTGTGTGTAGGTG GAGGGGATGATAGAATTGTGTGTAGGTGGAGGGGATGATAGAGCTGTGTA TAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGATAGAGC TGTGTGTAGGTGGAGGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGT TGGAGTTGTGTGTAGGTGGAGGGAATGATAGAGTTGTGTGTAGGTGGAGG GGATGATAGAACTGTGTGTAGGGGGAGGGGATGCTGGAGTTGTGTGTAGG TGGAGGAGATGATAGGGTTGTGTGTAGGTGGAGGGGATGATAGAGTTGTG TGTAGGTGGAGGGTATGATAGAGCTGTGGGTAGATGGAGGGGATGCTGGA GTTGTG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(777): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ACATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAA AATATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAA AATATATACACATATAAATATATATAAAAATATATAAATATATATAAAAA TATATAAATATATATTATATATAAATATATAATATATAAATATATATAAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATAAATATATACAATATATAAATATATATAAATAT ATACAATATATAAATATATATAAATATATAAATATATATAAATATATATA ATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	12	0.0833	784	c.617 others(801): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATATATTTAT ATATTGTATATATTTATATATATTTATATATTGTATATATTTATATATAT TTATATATTTATATATATTTATATATTATATATTTATATATAATATATAT TTATATATTTTTATATATATTTATATATTTTTATATATATTTATATGTGT ATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATATTT TTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATATAT ATTATGTATTTATATATTTATATATTTATATATTTATGTATATATATTTA TATGTACTTATATATATTTATATATTTATATATTTATATATTTATATATT TATGTATTTATATATTTTTATATATTTATATATTTATATATTTATATATA TTTATATATTTATATATTTATATATATTTATATATATTTATATATTTATA TATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTTATA TATTTATATATTTATATATTATATATTTATATTTATATATGTATATATTT TTATATATTTTTATTTATATATTTATATATTTATATATATTTATATATTC ATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(777): Show TTGGGTGGATGGATGGATCGATGGATGGATGGATGGATGGTTGGGTGGAT GGATGGATCGGTGGATGGATGGATGGATGGATGGGTGGGTGGACGGATGG ATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGGGTGGATGGAT GGATGGGTGGATGGACGGATGGATGGATGGGTGGACAGATGGATGGGTGG GTTGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGGTGGAT GGGTGGATGGATGGATGGATGGGTGGATGGATGGAGGGGTGGATGGATGG ATGGATGGGTGGGTGGATGAATGGGTGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTAGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGG ATGGGTGGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGGATGGAT GGGTGGATGGATGGATGGATGGATGGATGAATGGGTGGATGGATGGATGG ATGGATGGATGGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGAT GGATGGGTTGGTGGATGGATGGATGTATGGGTGGATGTATGTATGTATGT ATGTATGGGTGGGTGGATGGATAGATGGATGGATGGATGGGCGGATGGAT GGATGGGTGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGATGG GTGGATGGATGGATGGGTGGGTGGATGGATGGGTGGATGGATGGATGGGT GGATGGATGGATGGGTGGGTGGGTGGATGGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	54	0.0185	784	c.80 others(795): Show c.8028_*8029insTCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCATCCGCCCATCCATCCATCCATCTATCCATCCACCCACCCATACA TACATACATACATACATCCACCCATACATCCATCCATCCACCAACCCATC CATCCATCCACCCACCCATCCATCCATCCACCCATCCACCCATCCATCCA TCCATCCATCCATCCACCCATTCATCCATCCATCCATCCATCCATCCACC CATCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCCACCCA TCCACCCAGCCATCCATCCACCCACCCATCCATCCATCTACCCATCCACC CATCCATCCATCCATCCATCCAACCACCCATTCATCCACCCACCCATCCA TCCATCCATCCACCCCTCCATCCATCCACCCATCCATCCATCCATCCACC CATCCACCCATCCATCCATCCATCCATCCATCCACCCATCCATCCATCAA CCCACCCATCCATCTGTCCACCCATCCATCCATCCGTCCATCCACCCATC CATCCATCCACCCATCCATCCATCCATCCACCCATTCATCCATCCACCGA TCCATCCGTCCACCCACCCATCCATCCATCCATCCATCCACCGATCCATC CATCCACCCAACCATCCATCCATCCATCCATCGATCCATCCATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(777): Show TTGGGTGGATGGATGGATCGATGGATGGATGGATGGATGGTTGGGTGGAT GGATGGATCGGTGGATGGATGGATGGATGGATGGGTGGGTGGACGGATGG ATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGGGTGGATGGAT GGATGGGTGGATGGACGGATGGATGGATGGGTGGACAGATGGATGGGTGG GTTGATGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGGT GGATGGATGGATGGATGGGTGGATGGATGGAGGGGTGGATGGATGGATGG ATGGGTGGGTGGATGAATGGGTGGTTGGATGGATGGATGGATGGATGGGT GGATGGGTAGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGGATGG GTGGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGGATGGATGGGT GGATGGATGGATGGATGGATGGATGAATGGGTGGATGGATGGATGGATGG ATGGATGGATGGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGAT GGATGGGTTGGTGGATGGATGGATGTATGGGTGGATGTATGTATGTATGT ATGTATGGGTGGGTGGATGGATAGATGGATGGATGGATGGGCGGATGGAT GGATGGGTGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGATGG GTGGATGGATGGATGGGTGGGTGGATGGATGGGTGGATGGATGGATGGGT GGATGGATGGATGGGTGGGTGGGTGGATGGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	54	0.0185	784	c.80 others(795): Show c.8028_*8029insTCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCATCCGCCCATCCATCCATCCATCTATCCATCCACCCACCCATACA TACATACATACATACATCCACCCATACATCCATCCATCCACCAACCCATC CATCCATCCACCCACCCATCCATCCATCCACCCATCCACCCATCCATCCA TCCATCCATCCATCCATCCACCCATTCATCCATCCATCCATCCATCCATC CACCCATCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCTACCCATC CACCCATCCATCCATCCATCCATCCAACCACCCATTCATCCACCCACCCA TCCATCCATCCATCCACCCCTCCATCCATCCACCCATCCATCCATCCATC CACCCATCCACCCATCCATCCATCCATCCATCCACCCATCCATCCATCAA CCCACCCATCCATCTGTCCACCCATCCATCCATCCGTCCATCCACCCATC CATCCATCCACCCATCCATCCATCCATCCACCCATTCATCCATCCACCGA TCCATCCGTCCACCCACCCATCCATCCATCCATCCATCCACCGATCCATC CATCCACCCAACCATCCATCCATCCATCCATCGATCCATCCATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(777): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTC CCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCC TTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTT CCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCC CCTCCCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0022 a0004c0005t0003g0022	1	67	0.0149	784	c.759 others(801): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT GTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTC CCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC CTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(777): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0242 a0001c0002t0007g0242	1	217	0.0046	784	c.174 others(803): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(777): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	4	0.2500	784	c.-27 others(795): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAAGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LHPP_chr10_124456823_124619141	124507259	G G	GGGTAGGG others(777): Show GGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGTAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGATGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0035 a0001c0001t0018g0035	1	219	0.0046	784	c.624 others(801): Show c.624+9133_624+9134insTAGGGAGGATTTCAGGTGAGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG TGAGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGAT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189313	A A	AAGGGAGG others(777): Show AAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGG AAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAA GGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGG GAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAA GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGG AAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAA GGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGG AAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAA GGAAGGAAGGGAGGAAGAAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG02572.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0059 a0001c0001t0023g0037 a0001c0001t0005g0059 a0001c0001t0023g0037	2	41	0.0488	784	c.-36 others(805): Show c.-36+105894_-36+105895insCCCTCCCTTCCTTCCTTTCTTCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCT TCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT TCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTC CTCCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(777): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	784	c.-42 others(795): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCT GCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(777): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACAATTACACCCACACTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0265 a0001c0002t0004g0265	1	215	0.0047	784	c.129 others(801): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACAATTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCACAC TCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(777): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0085 a0001c0016t0003g0085	1	198	0.0051	784	c.337 others(803): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTT TTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(777): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0154 a0001c0013t0001g0154	1	198	0.0051	784	c.337 others(803): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTT TTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUC7L_chr16_183990_234449	186153	G G	GGAGGAAC others(777): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	237	0.0042	784	c.30 others(795): Show c.3044_*3045insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2836		chr16	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(777): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCT CCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCG CTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCG CTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCCTCCT CTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTC CTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGG CTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	125	0.0080	784	c.-49 others(795): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(777): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	32	0.0313	784	c.241 others(803): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCC GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(777): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0130 a0001c0006t0001g0130	1	32	0.0313	784	c.241 others(803): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCC GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(777): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAGATTTTATATATATTTTATATATATATAAGATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTA TATATATTTTATATATATAAAATAAGATTTTATATATATATATAAAATAA GATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	242	0.0041	784	c.-5+ others(799): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATATAAAATCTTATTTTATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATCTTATATATATATAAAATATATATAAAATCTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATA TATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATA TAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGAT TTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTAT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATA TAAAAAATATATATCAAATATATATAAAATAAGATTTTATATATATATAA AATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NPHP4_chr1_5857811_5997425	5977897	G G	GGAAGGAG others(777): Show GGAAGGAGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGG GGGAAGGAGAAGGGAGGGGTGGGAAGGGGAGGGAGGGGAGGGGAAGGGGG AGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGG GGAAGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAG GGGAGGAGGGGGAGAAGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGG GGAGGGGAGGAGGGAGGGGAGGAGGGGAGGGAGGAGGGGAGGAGGGGAGG GGAGGAGGGGGAGGGAGGAGGAGGGAGGAGGGGGAGGGAGGAGGGGAGGG GAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGG AGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGG GAGGAGGGGAGGAGGGGAGGGAGGAGGGAGGGGAGGAGGGGAGGGGAGGA GGGGGAGGGGAGGAAAGGAAGGAGGGAAGGGGAGGGGAGGAGTGGAGAGG AGGATGAGGGGAGGGAGGGAGGAGGTGGAGAGGAGGGTAAGGGAAGGAAG CAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGA GGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGAGGGGAGGGTGGGGGA GGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0192 a0005c0009t0001g0192	1	207	0.0048	784	c.279 others(799): Show c.279+372_279+373insTCCCTTCTCCTCCTCTCCACTCCTCTTCCC TCCCCTCCCCCACCCTCCCCTCCTTCCCTTACCCTCCCCTCCCGCACCCC TCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCACTCCTCCCTC CTCTGCTTCCTTCCCTTACCCTCCTCTCCACCTCCTCCCTCCCTCCCCTC ATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCTTCCTTTCCTCCCCT CCCCCTCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCTCCCCTCCTCCCC TCCTCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCC TCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCTCCCCC TCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCTCCTCCTCCCTCCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCTCCTCC CCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCTTCTCCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCCTCC CTTCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTCCCCTCCCTCCCCTTCCCACCCCTCCCTTCTCC TTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTCTC CTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OR11H4_chr14_20234286_20249349	20237635	C C	CTATATAT others(777): Show CTATATATACTATACATACTATATAGTATATATAGTATATATACTATTTA TACTATATTATATATACTATATATACTATAGTATATATACTATATATACT ATATATACTATATATACATAGTATATATACTATATATACTATATATACTA TAGTATATATACTATATATACTATATATACTATAGTATATATCGTATATA TACTATATATACTATAGTATATATCGTATATATACGATATATACTATAGT ATATATAGCATATATACGATATATACTATAGTATATATAGTATATATACG ATATATACTATAGTATATATAGTATATATACTATATATACTATAGTAATA TATAGTATATATATATACTACTATATATATAATAGTATATATAGGATATA TATATACTACTATATATAGTATATATAGTAGATATACTATATATACTATA TAGTATACATAGTATATCTACTATATAGTACATATAGTATATATAGTTAT ATCTACTATATAGTATATATACTATATATACTCTATAGTATATATAGTAT ATATACATATACTATAGAGTATATATAGTATATATAGTATATATACTATA TATAGTATAGATAGTATATATACTATATATACTATATATAGTATATATAG TATAGATAGTATATATATACTATAATATACTATAGTAGGTAAGTAGGTAA GGTAATATTAATAGTACTAATATATATAGTATATATAGTATATATACTAT ATATAGTATATATAGTATATATACTATATATAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	419	0.0024	784	c.-17 others(795): Show c.-1708_-1707insTATATATACTATACATACTATATAGTATATATAG TATATATACTATTTATACTATATTATATATACTATATATACTATAGTATA TATACTATATATACTATATATACTATATATACATAGTATATATACTATAT ATACTATATATACTATAGTATATATACTATATATACTATATATACTATAG TATATATCGTATATATACTATATATACTATAGTATATATCGTATATATAC GATATATACTATAGTATATATAGCATATATACGATATATACTATAGTATA TATAGTATATATACGATATATACTATAGTATATATAGTATATATACTATA TATACTATAGTAATATATAGTATATATATATACTACTATATATATAATAG TATATATAGGATATATATATACTACTATATATAGTATATATAGTAGATAT ACTATATATACTATATAGTATACATAGTATATCTACTATATAGTACATAT AGTATATATAGTTATATCTACTATATAGTATATATACTATATATACTCTA TAGTATATATAGTATATATACATATACTATAGAGTATATATAGTATATAT AGTATATATACTATATATAGTATAGATAGTATATATACTATATATACTAT ATATAGTATATATAGTATAGATAGTATATATATACTATAATATACTATAG TAGGTAAGTAGGTAAGGTAATATTAATAGTACTAATATATATAGTATATA TAGTATATATACTATATATAGTATATATAGTATATATACTATATATAGTA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1650		chr14	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(777): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 NA19240.hp1 HG01891.hp1 HG02976.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0018 a0001c0001 a0003c0018	a0001c0001t0005 a0003c0018t0005 a0001c0001t0005 a0003c0018t0005	a0001c0001t0005g0139 a0001c0001t0005g0213 a0003c0018t0005g0140 a0001c0001t0005g0139 a0001c0001t0005g0213 a0003c0018t0005g0140	3	142	0.0211	784	c.309 others(803): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(777): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03490.hp1 HG03492.hp1 HG01123.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147	3	142	0.0211	784	c.309 others(803): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(777): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01099.hp2 others(5): Show HG00099.hp2 HG00323.hp1 HG01099.hp2 HG02717.hp2 HG02886.hp1 HG02970.hp1 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 others(5): Show a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0204	8	147	0.0544	784	c.309 others(803): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(777): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	140	0.0071	784	c.309 others(803): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	298386	A A	ACATTATT others(777): Show ACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGC CATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATT ATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTA TTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTAT TCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATTCTGT CTCCCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATTCTGTC TATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCT CCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTA TCACATGGGGATTAGGACGTGGACATCTTTGGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0104 a0001c0003t0057g0104	1	161	0.0062	784	c.734 others(799): Show c.734-663_734-662insCCATTATTCTGTCTCCCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGG ACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACG TGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGT GGACATCTTTGGGGACATTATTCTGTCTACCTCATGGGGATTAGGACGTG GACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGG ACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGA CATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGAC ATCTTTGGGGACATTATTCTGTCTATCACATGGGGATCAGGACGTGGACA TCTTTGGGGACATTATTCTGTCTCCCACATGGGGATCAGGACGTGGACAT CTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATC TTTGGGGCCATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCT TTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTT TGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTT GGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(777): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATG GTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA TGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTG ATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18983.hp1 NA18966.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	200	0.0100	784	c.-46 others(795): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RPH3AL_chr17_207389_357807	273432	C C	CGACGTCA others(777): Show CGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAG CGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGG GTGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGAC GTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCG GGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGA GACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCA GGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTG ACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACC CCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGCGGGTGACTTCAGGGT GAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCAGCGAGGG CGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAG CGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	94	0.0106	784	c.438 others(801): Show c.438+8335_438+8336insACCCGCGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCT GACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTG GGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCACCCTGACGTCACCC TCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCC CTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGC TGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCAC CCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGA TGTCGCCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCT CCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGG GTCTCACCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTC GCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCTTCCTGACGTC GCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCTCCCT GACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273432	C C	CGACGTCA others(777): Show CGACGTCAGGGAGAGACCCCGGCGAGGGTGACGTCAGGGTGAGACCCCAG CGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGAC GTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAG GGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACATCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGA GACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCA GGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTG ACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCG AGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGT GAGACCCCGGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGG CTACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAG CGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0022 a0001c0006t0004g0022	1	94	0.0106	784	c.438 others(801): Show c.438+8335_438+8336insACCCTCGCTGGGGTCTCTCCCTGAAGTC ACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCTCCCT GACGTAGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTTCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCCG GGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAG TCACCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCACC CTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGC TGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCAC CCTCGCTGGGGTCTCTCCCTGATGTCGCCCTCGCTGGGGTCTCTCCCTGA CGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCT CCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGG GTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTT GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCACCCTGACGTC ACCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCCGGGGTCTCTCCCT GACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(777): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATTATATATACATATATATGTATATATA CATATATACATGTATATATTATATATACATATATATGTATATATACATAT ATACATGTATATATTATACATGTATATATGTATATATACATATATACATG TATATATTATACATGTATATATGTATATATACATATATACATGTATATAT TATACATGTATATATTAATATATAATATATAGTATATATATACATGTATA TATTATATATAAAGTATATATTATATATACGTGTATACAATATATATACG TGTATATATATTATATACACGTATATATAATATATTGTATACAGGTATAT ATACATGTATATAATATATATGTATATATAATATATTGTATACATGTATA TATATACATGATATATACACATATATATCGTGTATATATACACATATATG TATATATATACATGATATATACATACATATATATCATGTGTATATATATA CATAATATACACGTATATATACATACATATATACATGTATATATACACAT ATATACATACATATATATACATGTATATATACACACATATATATGTGTAT GTATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATAT ATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18906.hp1 HG00639.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0121 a0001c0001t0004g0049 a0001c0001t0001g0121 a0001c0001t0004g0049	2	122	0.0164	784	c.59- others(801): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATACACACACACACACACACACACA CATATACATACACATATATATGTGTGTATATATACATGTATATATATGTA TGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTGTA TATTATGTATATATATACACATGATATATATGTATGTATATATCATGTAT ATATATACATATATGTGTATATATACACGATATATATGTGTATATATCAT GTATATATATACATGTATACAATATATTATATATACATATATATTATATA CATGTATATATACCTGTATACAATATATTATATATACGTGTATATAATAT ATATACACGTATATATATTGTATACACGTATATATAATATATACTTTATA TATAATATATACATGTATATATATACTATATATTATATATTAATATATAC ATGTATAATATATACATGTATATATGTATATATACATATATACATGTATA ATATATACATGTATATATGTATATATACATATATACATGTATAATATATA CATGTATATATGTATATATACATATATATGTATATATAATATATACATGT ATATATGTATATATACATATATATGTATATATAATATATACATATATGTA TATATTATATATACATATATATGTATATATAATATATACATATATGTGCA TATAATATACATGTCTATATGTATATATATTATACATACATGTCTATATG TATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(777): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATGTATTATATATACATATATATGTATATATA CATATATACATGTATATATTATATATACATATATATGTATATATACATAT ATACATGTATATATTATACATGTATATATGTATATATACATATATACATG TATATATTATACATGTATATATGTATATATACATATATACATGTATATAT TATACATGTATATATTAATATATAATATATAGTATATATATACATGTATA TATTATATATAAAGTATATATTATATATACGTGTATACAATATATATACG TGTATATATATTATATACACGTATATATAATATATTGTATACAGGTATAT ATACATGTATATAATATATATGTATATATAATATATTGTATACATGTATA TATATACATGATATATACACATATATATCGTGTATATATACACATATATG TATATATATACATGATATATACATACATATATATCATGTGTATATATATA CATAATATACACGTATATATACATACATATATACATGTATATATACACAT ATATACATACATATATATACATGTATATATACACACATATATATGTGTAT GTATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATAT ATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	121	0.0083	784	c.59- others(801): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATACACACACACACACACACACACA CATATACATACACATATATATGTGTGTATATATACATGTATATATATGTA TGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTGTA TATTATGTATATATATACACATGATATATATGTATGTATATATCATGTAT ATATATACATATATGTGTATATATACACGATATATATGTGTATATATCAT GTATATATATACATGTATACAATATATTATATATACATATATATTATATA CATGTATATATACCTGTATACAATATATTATATATACGTGTATATAATAT ATATACACGTATATATATTGTATACACGTATATATAATATATACTTTATA TATAATATATACATGTATATATATACTATATATTATATATTAATATATAC ATGTATAATATATACATGTATATATGTATATATACATATATACATGTATA ATATATACATGTATATATGTATATATACATATATACATGTATAATATATA CATGTATATATGTATATATACATATATATGTATATATAATATATACATGT ATATATGTATATATACATATATATGTATATATAATACATACATATATGTA TATATTATATATACATATATATGTATATATAATATATACATATATGTGCA TATAATATACATGTCTATATGTATATATATTATACATACATGTCTATATG TATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SCNN1D_chr1_1275436_1297025	1288356	T T	TCTGCTCC others(777): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	270	0.0037	784	c.166 others(801): Show c.1662+336_1662+337insTCTGCCCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(777): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	230	0.0043	784	c.115 others(801): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATATGGAAT ATATATATATATGGAATATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(777): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	166	0.0060	784	c.115 others(801): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(777): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	166	0.0060	784	c.115 others(801): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(777): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0136 a0001c0003t0002g0136	1	105	0.0095	784	c.284 others(803): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(777): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0139 a0001c0003t0002g0139	1	105	0.0095	784	c.284 others(803): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC2A9_chr4_9821224_10026497	9875235	C C	CTCTGTCT others(777): Show CTCTGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTC TCTGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTAGTGT CTGTCTAAGATGGGATGCTGTGTCTTTTGAAATGGCCATAGGTTAGCATC TGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCT GTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTG TCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGT CTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGTC TAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCT AAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTA AGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAA GATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAG ATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGA TGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGAT GGGATGCTGTGCCTTTAGAAATGGCCATAGGTTAGTGTCTGTCTAAGATG GGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGATGG GATGCTGTGTCTTTAGAAATGGCCATAGGTTAGCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0278 a0002c0006t0001g0278	1	311	0.0032	784	c.129 others(805): Show c.1291+12331_1291+12332insTGCTAACCTATGGCCATTTCTAAA GACACAGCATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAG ACACAGCATCCCATCTTAGACAGACACTAACCTATGGCCATTTCTAAAGG CACAGCATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGAC ACAGCATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACA CAGCATCCCATCTTAGACAGACGCTAACCTATGGCCATTTCTAAAGACAC AGCATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACA GCATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAG CATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAGC ATCCCATCTTAGACAGACGCTAACCTATGGCCATTTCTAAAGACACAGCA TCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAGCAT CCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAGCATC CCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAGCATCC CATCTTAGACAGATGCTAACCTATGGCCATTTCAAAAGACACAGCATCCC ATCTTAGACAGACACTAACCTATGGCCATTTCTAAAGACACAGCATCCCA TCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAGCATCCCAT CTTAGACAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(777): Show CATCCATCCATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATC CATCCACCCATCCACCCATCCACCCATCCACCCATCCACCCATCCACCCA TCCACCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGTCCATCTAC CATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0011	a0002c0007t0011g0044 a0002c0007t0011g0044	1	224	0.0045	784	c.107 others(801): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAAT GGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTGGAT GGGTGGATGGGTGGATGGGTGGATGGGTGGATGGGTGGATGGGTGGATGG GTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGGATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATAGATGGATGGATGGATGG ATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(777): Show ATATCATATTTTATATTATAATATATAACATATATTATATTATAATATAT AACATATATTATATATTATAATATATAACATATATTATATATTATAATAT ATAACATATATTATATATTATAATATATAACATATATTATATATTATAAT ATATAATATATATTATATTTTATAATATATAATATATATTATATTTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT TATATATTATATTTTATAATATATTATATATTTTATAATATATATTATAT TTTATAATATATATTATATTTTATAATATATATTATATTTTATAATATAT ATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTTAT AATATATATTATATTTTATAATATATATTATATTTTATAATATATATTAT ATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAATAT ATATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTT ATAATATATATTATATTTTATAATATATATTATATTTTATAATATATATT ATATTTTATAATATATATTATATTTTATAATATATATTATATATTATAAT ATATAATATATCTTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	161	0.0062	784	c.17 others(803): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAAGAT ATATTATATATTATAATATATAATATATATTATAAAATATAATATATATT ATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATAAT ATATATTATAAAATATAATATATATTATAAAATATAATATATATTATAAA ATATAATATATATTATAAAATATAATATATATTATAAAATATAATATATA TTATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATA ATATATATTATAAAATATAATATATATTATAAAATATAATATATATTATA AAATATAATATATATTATAAAATATAATATATATTATAAAATATAATATA TATTATAAAATATAATATATATTATAAAATATATAATATATTATAAAATA TAATATATAATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATATTATATATTATAAAATATAATAT ATATTATATATTATAATATATAATATATGTTATATATTATAATATATAAT ATATGTTATATATTATAATATATAATATATGTTATATATTATAATATATA ATATATGTTATATATTATAATATAATATATGTTATATATTATAATATAAA ATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(777): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATA TATATTATATTTTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATATTATATATTATAATATATAATATATATTACATATTATAATAT ATAATATATTATATTTTATAATATATATAAAATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATATATATTATAAAATA TAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	7	0.1429	784	c.17 others(803): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATCTTATATAATATAAAATATAATATATTATATATTATAAAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATTTTATATATATTATAAAATATA ATATATTATATATTATAATATGTAATATATATTATATATTATAATATATA ATATATATTATATATTATAATATGTAATATATATTATATATTATAATATA TAATATATATTATATATTATAATATATAATATATATTATATATTATAAAA TATAATATATATTACATATTATAAAATATAATATATATTACATATTATAA AATATAATATATTATATATTATAAAATATAATATATATTACATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAATATATAATATATTATATATTATAATATA TAATATATATTATATATTATAATATATAATATATATTATATATTATAATA TAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(777): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CAGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGAT GGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGAT GGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAG TGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTC CTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACC CCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATTGTGA TGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTA TGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01993.hp2 HG02129.hp2 others(1): Show HG01106.hp2 HG01993.hp2 HG02129.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0164 a0001c0001t0001g0179	4	124	0.0323	784	c.-78 others(803): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGA TGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATG GTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGT GGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTA TGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGG TAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGATG GTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(777): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGAT GGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGAT GGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAG TGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTC CTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACC CCTGGTGGTGGTGATAATGAAAATGGCTATGTCAGTGATGCTGATTGTGA TGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTA TGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0232 a0001c0001t0001g0249	2	122	0.0164	784	c.-78 others(803): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGA TGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATG GTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGT GGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATAATGAAAATGGCTA TGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGG TAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGATG GTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar

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