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
PKP3_chr11_389209_409908	401787	C C	CCCCGCTC others(446): Show CCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCA CCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCC GACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGC TCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCC GGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACC CCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCG CTCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03492.hp1 HG01069.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0001 a0001c0028t0001 a0001c0002t0001 a0001c0028t0001	a0001c0002t0001g0103 a0001c0028t0001g0137 a0001c0002t0001g0103 a0001c0028t0001g0137	2	216	0.0093	453	c.173 others(472): Show c.1737+1085_1737+1086insGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCA CCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACC GGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGA CCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCG CTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCA CCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACC CGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGGCCCCGCTCACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNB2_chr22_50269979_50312646	50285571	A A	ACCAACCG others(446): Show ACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCG GCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTC CCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCAC CTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTG CCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACC GGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCAC CCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTC CGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGA GCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTTAGCCTGCCTG TCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0001 a0002c0077t0001	a0002c0077t0001g0292 a0002c0077t0001g0292	1	302	0.0033	453	c.208 others(470): Show c.2088+228_2088+229insGTGACAGGCAGGCTAAGGTGCGGAGGGA GGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGTGCCG GCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGTGCCGGCCGGTGAC AGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCT CAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGG AGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGG TGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCG GTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGC AGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGG TGCGGAGGGAGGGGGTGCCGGTTGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(446): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAC CCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCT GGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00639.hp1 others(35): Show HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03669.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18991.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(31): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0001t0045 a0001c0001t0056 a0001c0001t0058 a0001c0001t0079 a0001c0002t0003 a0001c0002t0011 a0001c0002t0018 a0001c0002t0023 a0001c0002t0034 a0001c0002t0052 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0044 a0001c0003t0047 a0001c0003t0065 a0001c0004t0002 a0001c0004t0009 a0001c0004t0087 a0001c0005t0003 a0001c0005t0008 a0001c0005t0051 a0001c0005t0078 a0001c0006t0002 a0001c0006t0006 a0001c0006t0082 a0001c0007t0025 a0001c0008t0016 a0001c0010t0061	a0001c0001t0005g0104 a0001c0001t0007g0005 a0001c0001t0008g0054 others(35): Show a0001c0001t0005g0104 a0001c0001t0007g0005 a0001c0001t0008g0054 a0001c0001t0028g0051 a0001c0001t0029g0083 a0001c0001t0045g0071 a0001c0001t0056g0109 a0001c0001t0058g0072 a0001c0001t0079g0142 a0001c0002t0003g0061 a0001c0002t0011g0021 a0001c0002t0018g0002 a0001c0002t0023g0080 a0001c0002t0034g0085 a0001c0002t0052g0127 a0001c0003t0001g0134 a0001c0003t0004g0076 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0044g0131 a0001c0003t0047g0055 a0001c0003t0065g0119 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0039 a0001c0004t0009g0011 a0001c0004t0087g0023 a0001c0005t0003g0042 a0001c0005t0008g0027 a0001c0005t0051g0040 a0001c0005t0078g0014 a0001c0006t0002g0035 a0001c0006t0006g0015 a0001c0006t0006g0043 a0001c0006t0082g0093 a0001c0007t0025g0052 a0001c0008t0016g0124 a0001c0010t0061g0111	38	148	0.2568	453	c.822 others(470): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCCATCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGG ACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCC GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG GCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(446): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAC CCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGGCGGCTGGCCGGGTGAGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCT GGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0071 a0001c0005t0001 a0001c0003t0071 a0001c0005t0001	a0001c0003t0071g0046 a0001c0005t0001g0013 a0001c0003t0071g0046 a0001c0005t0001g0013	2	148	0.0135	453	c.822 others(470): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCCATCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGG ACGGGGCGGCTGGCCGGGTGAGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCC GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG GCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109287	G G	GACCCCCC others(446): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCCATCTCCCTCCC GGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCCACCTCCCTCCAAG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCAGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCTGGCGGGG GGCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCGGGGG GCTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01106.hp2 HG01358.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0011t0002 a0001c0001t0001 a0001c0003t0001 a0001c0011t0002	a0001c0001t0001g0115 a0001c0003t0001g0128 a0001c0011t0002g0136 a0001c0001t0001g0115 a0001c0003t0001g0128 a0001c0011t0002g0136	3	148	0.0203	453	c.822 others(470): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCCATCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGG ACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCAGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCC GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG GCTGACCCCCCTACCTCCCTCCCGGATGGGGCGGCTGGTGGGGCGGGGGG CTAACCCCCCCACCTCCCTCCCGGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2106750	A A	AGCCCCTC others(446): Show AGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGAC TCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGG CCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTG TCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCT CCATGCGTGTCACCAGGCCAGGTAACTCTTCAGCAGGCCCCTCTGGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCT CCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGCGACTCTTCAG CAAGCCCCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCC TCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTTCA GCAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	286	0.0035	453	c.335 others(472): Show c.335-28505_335-28504insCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTC CACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTTCAGC AGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAA CTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGCGACTCTTCAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAG GCCAGGTAACTCTTCAGCAGGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASA3_chr13_113972783_114137623	114043969	C C	CCCCCCGC others(446): Show CCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCACCCGCCTCACTCGCTG AGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCC CGCCTCACTCGCTGAGCTCCCCCACCCGCCTCACTCGCTGAGCCCCCCCG CCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCC CCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAG CTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGA GCTCCCCCACCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGC TGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	67	0.0149	453	c.278 others(470): Show c.278-2876_278-2875insCTCAGCGAGTGAGGCGGGGCGGGGGGGC TCAGCGAGTGAGGCGGGTGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGG GCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCG GGTGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGG CGGGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTC AGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGTGGGGGAG CTCAGCGAGTGAGGCGGGGCGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RIPOR3_chr20_50581108_50696542	50666204	T T	TTCCTTTC others(446): Show TTCCTTTCCTTTCCTTTTCCTTTCTCCTTTCCTTTCCTTTCCTTTCCTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTT CCTTTCCTTTCCTTTCCTTTTCCTTTCCTTCTTTCCTTTCCTTTCCTTTC CTTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTT TCCTTTTCCTTTCCTTTCTCTCTTTCCCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0092 a0001c0015t0002g0092	1	280	0.0036	453	c.3+2 others(468): Show c.3+24921_3+24922insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGGA AAGAGAGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAGGAAAGGAA AGGAAAGGAAAGGAAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGAAGGAA AGGAAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAAGGAAAGGAAAGGA GAAAGGAAAAGGAAAGGAAAGGA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAAGATC others(446): Show CCAAGATCCCAGACCCCAGATCCTAGACCCCAGACCTCAGACCCCAGATC TCAGACCCCAGATCCCAGACCCCAGATCTCAGACCCCAGATCCCAGACCC CAGATCCTAGATCTCAGACCCCAGATCTCAGACCCCAGACCCCAGATCCC AGACCCCAAGATCCCAGACCCCAGATCCTAGATCCAGACCTCAGACCCCA GATCTCAGACCCCAGATCTCAGACCCCAGATCCCAGATCCCAAAACCCAG ACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAGATCCCAGACCCCAG ACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGATCTCAGACCCCAG ACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGACCCCAGACCCCAG ATCCCAGACCCCAAACCTCAGACCCCAGATCCCAGACCCCAGATCACCAG ATCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0182 a0001c0007t0001g0182	1	203	0.0049	453	c.-12 others(472): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGAT CTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTC TGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATC TGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGATCTA GGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCTG AGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTGA GATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGG GTCTAGGATCTGGGGTCTGGGATCTTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(446): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	453	c.199 others(472): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGCGAGGCTGCCACACAGACGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SIGIRR_chr11_400716_419999	401787	C C	CCCCGCTC others(446): Show CCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCA CCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCC GACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGC TCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCC GGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACC CCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCG CTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	242	0.0041	453	c.41 others(464): Show c.4108_*4109insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCA GGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTG TGAGCGGGTCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAG CGGGTCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3928		chr11	TogoVar
SKI_chr1_2223319_2315213	2280743	C C	CGAGAAGA others(446): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAG AGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGAC ACGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	330	0.0030	453	c.970 others(472): Show c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGAAG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATC TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG AGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTG GCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281515	C C	CGCCTGAG others(446): Show CGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGA GAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACA GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG GCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT GAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGA CAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGG CGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGA GATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTC AGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGA GGAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	330	0.0030	453	c.970 others(472): Show c.970-21460_970-21459insTGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGAC AGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC GGCGGAGATCTTCAGAGAGAGGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281691	C C	CGAGAAGA others(446): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGG CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGAGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGC GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC ACGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	330	0.0030	453	c.970 others(472): Show c.970-21283_970-21282insAGACAGGCGGCGGCGGCGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAAGCCCG AGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGAC ATGCGGCGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGC GGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCG ATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCA GAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGG AGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(446): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGG GGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGG GAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGG GGGGCGGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGGCGGGAGGGGGA GGACGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGG GAGGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGGCGG GAGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	222	0.0045	453	c.914 others(472): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCCGC CTCCTTCCCCTCCCTCCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGC CCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCC CCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCG CCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(446): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACAT ATATATATACACATAGTATATATATTCTACGTATATATATACACATAGTA TATATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGT GTATATATATACACATAGTATATATATTCTACGTGTGTATATATATACAC ATAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATA TATACTATGTGTATATATATACGTAGAATATATATACTATGTGTATATAT ACGTAGAATATATATACTATGTGTGTATATATACGTAGAATATATATACT ATGTGTATATATATACGTAGAATATATATACTATGTGTATATATATACGT AGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	182	0.0055	453	c.174 others(472): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTATATATATACACATAGT ATATATATTCTACATATATATATACACATAGTATATATATTCTACGTATA TATATACACATAGTATATATATTCTACGTATATATATACACATAGTATAT ATATTCTACGTGTGTGTATATATATACACATAGTATATATATTCTACGTG TGTATATATATACACATAGTATATATATTCTACGTGTATGTATACACATA TATACATAGAATATATATACTATGTGTATATATATACGTAGAATATATAT ACTATGTGTATATATACGTAGAATATATATACTATGTGTGTATATATACG TAGAATATATATACTATGTGTATATATATACGTAGAATATATATACTATG TGTATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(446): Show GTATATATATACACATAGTATATATATTCTACGTGTGTATATATATACAC ATAGTATATATATTCTACGTATATATATACACATAGTATATATATTCTAC GTATATATATACACATAGTATATATATTCTACGTATATATATACACATAG TATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTGT GTATATATATACACATAGTATATATATTCTACGTGTGTATATATATACAC ATAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATA TATACTATGTGTATATATATACGTAGAATATATATACTATGTGTATATAT ACGTAGAATATATATACTATGTGTGTATATATACGTAGAATATATATACT ATGTGTATATATATACGTAGAATATATATACTATGTGTATATATATACGT AGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	182	0.0055	453	c.174 others(472): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TGTATATATATACACATAGTATATATATTCTACGTATATATATACACATA GTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTA TATATATACACATAGTATATATATTCTACGTATATATATACACATAGTAT ATATATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGTG TGTATATATATACACATAGTATATATATTCTACGTGTATGTATACACATA TATACATAGAATATATATACTATGTGTATATATATACGTAGAATATATAT ACTATGTGTATATATACGTAGAATATATATACTATGTGTGTATATATACG TAGAATATATATACTATGTGTATATATATACGTAGAATATATATACTATG TGTATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM36_chr17_55444856_55516452	55501088	C C	CTATTTTA others(446): Show CTATTTTATATTATAATATATAATATACTATTTTATATTATAATATATAA TATATATTATATTTTATATTATAATATATAATATAATATACATTATATTT TATGATATATAATATACATTATATTTTATGATATATAATATACATTATAT TTTATGATATATAATATACATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATGATATACATT ATATTTTATGATATATGATATACATTATATTTTATGATATATGATATACA TTATATTTTATGATATATGATATACATTATATTTTATGATATATGATATA TATTATATTTTATGATATATGATATATATTATATTTTATGATATATATTA TATATTATATTTTATGATATATAATATATATTATATTTTATGATATATAA TATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	340	0.0029	453	c.17 others(472): Show c.174+9790_*174+9791insTATATTATATATCATAAAATATAATA TATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAA TATATATCATATATCATAAAATATAATATATATCATATATCATAAAATAT AATGTATATCATATATCATAAAATATAATGTATATCATATATCATAAAAT ATAATGTATATCATATATCATAAAATATAATGTATATCATATATCATAAA ATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATA AAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCA TAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATTA TATATTATAATATAAAATATAATATATATTATATATTATAATATAAAATA GTATATTATATATTATAATATAAAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(446): Show ACACACCACACATACACACACACACACATACACACACAAACACACACACA TACACACCACACACACATACCCACACACACACATACATACACACACACCA CACACCCCCACACACATACACACACACAAAAATACACATACACACAAACA CACAAATACACACATACACACAAAAATACACATACACACAAACACACAAA TACACACACAGAAATACACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACACACAAATACA CACACATACATAACACACCCACACACATACACACACAATACACATACACA CAAACACACAAATACACACATACACATACAAAAATACACACATACACACA CACAAATACACACATACACACACATACCCACACACACACATACACACACA TACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	150	0.0067	453	c.107 others(474): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTT TGTATGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTGTGTGT GTATGTGTGTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTG TGTATGTGTGTTTGTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTG TGTGTGTGTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATG TGTATTTTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATT TTTGTGTGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGT GTGTGTGTGGGTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTG TATGTGTGTGTGTGTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(446): Show ACACACCACACATACACACACACACACATACACACACAAACACACACACA TACACACCACACACACATACCCACACACACACATACATACACACACACCA CACACCCCCACACACATACACACACACAAAAATACACATACACACAAACA CACAAATACACACATACACACAAAAATACACATACACACAAACACACAAA TACACACAGAAATACACATACACACACACACCCACATACCCACACACACA TACCCACACACCCACAAACACACATACACACACACACACACACAAATACA CACACATACATAACACACCCACACACATACACACACAATACACATACACA CAAACACACAAATACACACATACACATACAAAAATACACACATACACACA CACAAATACACACATACACACACATACCCACACACACACATACACACACA TACT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	150	0.0067	453	c.107 others(474): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTT TGTATGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTGTGTGT GTATGTGTGTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTG TGTGTATGTGTGTTTGTGGGTGTGTGGGTATGTGTGTGTGGGTATGTGGG TGTGTGTGTGTATGTGTATTTCTGTGTGTATTTGTGTGTTTGTGTGTATG TGTATTTTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATT TTTGTGTGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGT GTGTGTGTGGGTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTG TATGTGTGTGTGTGTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246071728	A A	AAGTTCTG others(446): Show AAGTTCTGGGGAGGGATTCGAGTGCTTTCCGCTGTGCTCACTGTCGCTGC ATCCTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGT CGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGC TCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCC ACTGTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTG CTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGAT TCGAGTGCTTTCCGCTGTGCTCACTGTCGCTGCATCCTGTAGTTCTGGGG AGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGT TCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCC TGTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0141 a0002c0005t0001g0142 a0002c0003t0001g0141 a0002c0005t0001g0142	2	150	0.0133	453	c.532 others(474): Show c.532-141792_532-141791insAACAGGAAGCATCCACAGTGAGCA CAGCGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACA GTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTACAGGATGCA GCGACAGTGAGCACAGCGGAAAGCACTCGAATCCCTCCCCAGAACTAACA GGAAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGA ACTACACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAG CACACGAATCCCTCCCCAGAACTACAGGATGCAGCGACAGTGAGCACAGC GGAAAGCACTCGAATCCCTCCCCAGAACT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(446): Show GCCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCCGGG GGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGCCA GGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCC AGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGG GTCAGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAG ATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGA GAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTG AGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGT GAGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0268 a0002c0003t0010g0268	1	344	0.0029	453	c.208 others(470): Show c.2083+225_2083+226insCCAAGCAGGGTACATGGGACACCAGTGC GAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATACCAGT GCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAG TGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCA GTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGACAC CGGTGTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGA TACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGG ATACCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGG GATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATG GGATACCAGTGCCAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SPATA5_chr4_122918078_123324433	123016144	T T	TGGCTGGC others(446): Show TGGCTGGCTGGGCCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGGCCCTCACCTCCCGGATGGGGCGGCTGGCCGGACGCGGGGCTGAC AACCCCACCTCCCTCCCGGTCGGGGCGGCTGGCCTGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCTGGATGGG GCGGCTGGCCGGTGGGGGGGGGACTGACCCCCCCCACCTCCCTCCCGGAC GGTGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0155 a0002c0002t0018g0155	1	262	0.0038	453	c.187 others(474): Show c.1870-12035_1870-12034insTGGGCCGGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGGCCCTCACCTCCCGGATGGGGCGGCTG GCCGGACGCGGGGCTGACAACCCCACCTCCCTCCCGGTCGGGGCGGCTGG CCTGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGTGGCTGACCCCCCC ACCTCCCTCCTGGATGGGGCGGCTGGCCGGTGGGGGGGGGACTGACCCCC CCCACCTCCCTCCCGGACGGTGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123016144	T T	TGGCTGGC others(446): Show TGGCTGGCTGGGCCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGGCCCTCACCTCCCGGATGGGGCGGCTGGCCGGACGCGGGGCTGAC AACCCCACCTCCCTCCCGGTCGGGGCGGCTGGCCTGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCCGGACGG GCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGTGGGGGGGGGGACTGACCCCCCCCACCTCCCTCCCGGAC GGTGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGATG GGGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	262	0.0038	453	c.187 others(474): Show c.1870-12035_1870-12034insTGGGCCGGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGGCCCTCACCTCCCGGATGGGGCGGCTG GCCGGACGCGGGGCTGACAACCCCACCTCCCTCCCGGTCGGGGCGGCTGG CCTGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCGGACGGGCGGCTGGCCGGGCGGGTGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGTGGGGGGGGGGACTGACCCCC CCCACCTCCCTCCCGGACGGTGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCAGATGGGGCGGCTGGC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGA others(446): Show GGAGGGGAGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAG AAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGGAGAGAGGGGGAGGGGGGGGAGAGAGGGGGAGGGAGGGGGGGAG AGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGG GAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGGAGAGAGAGGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAG GGGGAGGGAGGGGGGAGAGAGAGGGGGGAGGGAGGGGGGGAGAGAGAGGG GGAGGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGA GAGA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0101 a0001c0002t0063g0101	1	276	0.0036	453	c.-18 others(472): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCTCCCTCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCCTCCCT CCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCC TCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCCTCCCTCCCCCTCT CTCCCCCCCCTCCCCCTCTCTCCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTC TCCCCCTCCCCCTCTCTCTCTCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(446): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGG GGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGA GAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0041 a0001c0005t0041	a0001c0005t0041g0214 a0001c0005t0041g0214	1	276	0.0036	453	c.-18 others(472): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCC TCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCT CTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(446): Show TCATACACACACACTCCACACATCATACACAAAACACACTCCACACATCA TACACACACACTCCACACATCATACACACACACTCCACACATCATACACA CACACTCCACACATCATACATAAAACACACTCCACACATCATACACACCA CACACACTCCACACATCGTACACAAAACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACCACATACACTCCACACATCATACAC ACACACTCCACACATCATACACACACACTCCACACGTCATACACACACAC ACACTCCACACATCATACACAATACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACACACACTCCACACATCATACACAATACACA CTCCACACATCATACACAAAACACACTCCACACATCATACACACACACTC CACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04228.hp1 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0103 a0001c0001t0001g0068 a0001c0001t0001g0103	2	378	0.0053	453	c.819 others(470): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATGATGTGTGGA GTGTGTTTTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGGAGTG TGTATTGTGTATGATGTGTGGAGTGTGTGTGTGTGTATGACGTGTGGAGT GTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTATGT GGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTGTGGAGTGTGT TTTGTGTACGATGTGTGGAGTGTGTGTGGTGTGTATGATGTGTGGAGTGT GTTTTATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTG TGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGT ATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
THEG_chr19_356747_381026	377371	G G	GCCCCCAC others(446): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCT CCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCA GCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCCCC GTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0025 a0001c0003t0025g0025	1	370	0.0027	453	c.-14 others(464): Show c.-1402_-1401insGCACGGGGGGGGAGAGGCTGGGTGGAGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1346		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543289	G G	GTGACCCC others(446): Show GTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGAC CCCCACCTCCTCCCCCTGTGCCCCACCCTCCCTGTGTGTGACCCCCACCT CCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCC TGCCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCCTGCCCTCCC TCTGTCCATGACCCCCACCTCCTCCCCCTGCCCTCCCCCTGCCCATGACC CCCACCTCCTCCCCCTGCCCATGACCCCCACCTCCTCCCCCTCCCCCCGC CCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCT GTCCGTGACCCCACCTCCTCCCCCTGCCCTCCCTCTGTCCATGACCCCCA CCTCCTCCCCCTGCCCTCCCCCTGCCCATGACCCCCACCTCCTCCCCCTG CCCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0278 a0002c0003t0003g0278	1	368	0.0027	453	c.169 others(472): Show c.1690+3801_1690+3802insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCACCTCCTCCCCCTGTGCCCCACCCTCCCTGTGTGTGACCCCC ACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTC CCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCCTGCCC TCCCTCTGTCCATGACCCCCACCTCCTCCCCCTGCCCTCCCCCTGCCCAT GACCCCCACCTCCTCCCCCTGCCCATGACCCCCACCTCCTCCCCCTCCCC CCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCT CCCTGTCCGTGACCCCACCTCCTCCCCCTGCCCTCCCTCTGTCCATGACC CCCACCTCCTCCCCCTGCCCTCCCCCTGCCCATGACCCCCACCTCCTCCC CCTGCCCATGACCCCCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(446): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATAGTATATTATATTATATAGTATAGTATATTATATTATAT AGTATAGTATATTATATTATATAGTATAGTATATTATATTATATAGTATA TAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTAT ATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATAT TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TAGTATATTATATTATATTATATAGTATATAATATAGTATATTATATTAT ATAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	118	0.0085	453	c.44- others(470): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATAATATACTATATTATATACTATATAATATAATA TACTATATTATATACTATATAATATAATATACTATATTATATACTATATA ATATAATATACTATATTATATACTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TACTATATAATATAATATACTATACTATATAATATAATATACTATACTAT ATAATATAATATACTATACTATATAATATAATATACTATATTATATACTA TATAATATAATATACTATATTATATACTATATAATATAATATACTATATT ATATACTATATAATATAATATACTATATTATATACTATATAATATAATAT ACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(446): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TGTATATATACATTATACATACGTAAATGTATTATACATAAATGTATATA TGTATATATACATGTATTATACATACATAAATGTATATATGTATATATAC ATGTATTATACATACATAAATGTATATATGTATATATACATGTATGCACG TATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18970.hp2 NA18979.hp2 NA18940.hp1 NA18970.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0077 a0001c0001t0006g0016 a0001c0001t0006g0077	3	388	0.0077	453	c.-23 others(470): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATACATGTATATATACA TATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	140157347	G G	GAAGCCTC others(446): Show GAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTT CCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGC CTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTC CATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAG CCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTT TCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAA AAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCC CTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCAT TCAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0021 a0001c0008t0003g0021	1	98	0.0102	453	c.255 others(474): Show c.2556+64111_2556+64112insTTGAATGGAAAAGGGAGGCTTTTG AATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAA GGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTT TTGAATGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGG AAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGG CTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATG GAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGA GGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGA ATGGAAAAGGGAGGCTTTTGAATGGAAAGGAAGGCTTTTGAATGGAAAAG GGAGGCTTCTGAATGGAAAAGGGAGGCTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(446): Show AAAAATAAAATAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	352	0.0028	453	c.546 others(472): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTAT TTTATTTTATTTTATTTATTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TUBGCP2_chr10_133273635_133313872	133292082	T T	TCCGTGTC others(446): Show TCCGTGTCCCTGTGTCCCAGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACACTCCGTGTCCCCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTC CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCC CCCATGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCC ATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGC ACCCTCCGTGTCCCCCATGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTC CCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTGTGTCCCAG GGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCTGTGTCCCCCA TGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	284	0.0035	453	c.121 others(470): Show c.1214+416_1214+417insGGGACACGGAGGGACATGGGGGACACGG AGGGACACGGAGGGACATGGGGGACATGGGGGACACAGAGGGCGCGTGCT GCCCTCTCCCGTACAGGTAGGGCTCCCTGGGACACAGGGACACGGAGGGA CACGGGGGACACGGAGGGACATGGGGGACACGGAGGGACACGGAGGGACA TGGGGGACATGGGGGACACGGAGGGTGCGTGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACGGGGACATGGGGGACATGGGGGACACGGAGGG ACACGGAGGGACATGGGGGACATGGGGGACACGGAGGGTGCGTGCTGCCC TCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACATGGGGGACATGG GGGACACGGGGGACACGGAGTGTGCATGCTGCCCTCTCCCGTACAGGTAG GGCTCCCTGGGACACAGGGACACGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(446): Show CGGAGGCTGTGGGTGGGGCTCGGAGGCTGTGGGACGGGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GACGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCAAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0002 a0011c0029t0002	a0011c0029t0002g0314 a0011c0029t0002g0314	1	344	0.0029	453	c.218 others(470): Show c.2182+158_2182+159insGAGGCTGTGGGTGGGGCTCGGAGGCTGT GGGACGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGCTCAAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGT GGGACGGGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(446): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATATATATATATATATGATCTTAAAGTGCAGAAAAACA TAAAACATTATGTTCTTAACTTCAACTCATATCAAGATGAGTAACTTGGT TGCATAAGAGAAGCAATAAAGAAGTGAAAACAGGCTGGGCGCAGTGGCTC ACAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	282	0.0036	453	c.156 others(468): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATATATATATATATATGGGGTTTTTTTGCTTT TTGTTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTG CGGTGGTGTGATCTCGGCTTACTGCAAACCCTGCCTCCTGGGTTCATACC ATCCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCAC CATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCACCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
UVSSA_chr4_1342208_1393049	1372708	A A	AGCACTCA others(446): Show AGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCTCAGGGCACT CACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCC GCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCC CTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTC ACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCC CGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCCTGCTAC TCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCA CTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTC CCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGT CCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG01884.hp2 HG03130.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0021 a0003c0002t0021	a0003c0002t0021g0270 a0003c0002t0021g0271 a0003c0002t0021g0270 a0003c0002t0021g0271	2	400	0.0050	453	c.128 others(472): Show c.1289-2617_1289-2616insTCAGGGCACTCACCTCCCGCGTCCCT GCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCAC CTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTG CTACTCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAG GGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACT CACCTCCCGCGTCCCTGCACTCACCTCCTGCTACTCAGCACTCACCTCCC GCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCC CTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTC ACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCC TGCTACTCAGCACTCACCTCCCGCGTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(446): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCC CCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	246	0.0041	453	c.53- others(466): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(446): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGC CCCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCC CCCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCGGGCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCC GTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	302	0.0033	453	c.118 others(472): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGGGGGGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCC TGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGGCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(446): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATCATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATGATATATATCAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	350	0.0029	453	c.-36 others(464): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATCATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(446): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCGTACATATCACATATATCATATATATCGTACAT ATCACATATATCATATATATCATACATATCACATATATGATATATATCAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	350	0.0029	453	c.-36 others(464): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCGTACATATCACATATATC ATATATATCGTACATATCACATATATCATATATATCATACATATCACATA TATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(446): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATACATATCA CACATATCATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATGATATATATCATACATATCACATATATCATATATATCAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	453	c.-36 others(464): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATACATATCACACATATCATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATGATATATATCATACATATCACATA TATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(446): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGAGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC ACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03225.hp1 others(3): Show HG02055.hp2 HG02258.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0016 a0001c0002t0003g0143 a0001c0002t0003g0144	6	420	0.0143	453	c.66 others(464): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGAGGGGGGTCAGCCCCCCACCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(446): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC ACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0156 a0005c0006t0009g0156	1	420	0.0024	453	c.66 others(464): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184307	C C	CCCCTCTG others(446): Show CCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGC CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC TCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGA GGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0160 a0005c0006t0009g0160	1	420	0.0024	453	c.67 others(464): Show c.6724_*6725insCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGGCGCCTCTGCCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCAC CTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCTGGCCGCC CCTACTGGGAAGTGAGGAG	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4262		chr12	TogoVar
ZSCAN22_chr19_58321994_58347332	58326617	T T	TCTCACAC others(446): Show TCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCT CACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCC GCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACC CTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTC AGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCAC ACAGCCGCCCTCACCCTCAGCCTCACACAGCCGCCCTCACCCTCAGCCTC ACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACA CAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAG GCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCC ATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	400	0.0025	453	c.-54 others(462): Show c.-549_-548insCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCC TCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAG CCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTC TCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCA CACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCAC CCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGCCGCCCT CACCCTCAGCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACC CTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCT CAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCA CACAGCCAACCCCATCC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		376		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(447): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19058.hp2 NA18991.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0149 a0001c0002t0002g0128 a0001c0001t0001g0149 a0001c0002t0002g0128	2	306	0.0065	454	c.130 others(473): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTT ATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975365	A A	AAATATTT others(447): Show AAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAG ATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGAT AAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTT ATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTT TTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATAT TTTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAAT ATATC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	306	0.0033	454	c.130 others(473): Show c.1308+1211_1308+1212insGATATATTTATCTATAAATATAAAAA TATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATA TAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAA TATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATA AATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATA TTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAA TATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATT TATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTA TATATTTATCTATAAATATAAAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCG8_chr2_43833971_43887988	43871374	A A	AGAACTCT others(447): Show AGAACTCTCACTATCTATCTGGATAGAACTCTCACCCTCTGGATAGAACT CTCAGTCTCTGGATAGAATTCTCACTCTAGATAGAACTCTCACTATCTAT CTGGATAGAATTCTTACTCTAGATAGAACTCTCACTATCTGTCTGGATAG AATTCTCACCATCTGAATAAAACTCTCACTGTGTAGGAATAGAACTCTCA CTCTCTGGATAGAAATCTCACTTTCTATCTGGATAGAATTCTCACCATGT AGACAGAACTCTCACTATCTGGATAGAATTCTCACCCTCTGGATAGAACT CTCACTATCTGGATAGAATTCTCACCCTCTGGATAGAACTCTCACTCTCT GGATAGAATTCTCACCCTCTGGATGGAACTCTCACTATCTGGATAGAATT CTTACTCTCTGGATAGAACTCTCACTATCTGGATAGAATTCTTACTCTCT GGATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0023 a0003c0010t0023	a0003c0010t0023g0039 a0003c0010t0023g0039	1	318	0.0031	454	c.965 others(469): Show c.965-587_965-586insATCTGGATAGAACTCTCACCCTCTGGATAG AACTCTCAGTCTCTGGATAGAATTCTCACTCTAGATAGAACTCTCACTAT CTATCTGGATAGAATTCTTACTCTAGATAGAACTCTCACTATCTGTCTGG ATAGAATTCTCACCATCTGAATAAAACTCTCACTGTGTAGGAATAGAACT CTCACTCTCTGGATAGAAATCTCACTTTCTATCTGGATAGAATTCTCACC ATGTAGACAGAACTCTCACTATCTGGATAGAATTCTCACCCTCTGGATAG AACTCTCACTATCTGGATAGAATTCTCACCCTCTGGATAGAACTCTCACT CTCTGGATAGAATTCTCACCCTCTGGATGGAACTCTCACTATCTGGATAG AATTCTTACTCTCTGGATAGAACTCTCACTATCTGGATAGAATTCTTACT CTCTGGATGGAACTCTCACTATCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43871374	A A	AGAACTCT others(447): Show AGAACTCTCACTATCTATCTGGATAGAACTCTCACCCTCTGGATAGAACT CTCAGTCTCTGGATAGAATTCTCACTCTAGATAGAACTCTCACTATCTAT CTGGATAGAATTCTTACTCTAGATAGAACTCTCACTATCTGTCTGGATAG AATTCTCACCATCTGAATAAAACTCTCACTGTGTGGGAATAGAACTCTCA CTCTCTGGATAGAAATCTCACTTTCTATCTGGATAGAATTCTCACCATGT AGACAGAACTCTCACTATCTGGATAGAATTCTCACCCTCTGGATAGAACT CTCACTATCTGGATAGAATTCTCACCCTCTGGATAGAACTCTCACTCTCT GGATAGAATTCTCACCCTCTGGATGGAACTCTCACTATCTGGATAGAATT CTTACTCTCTGGATAGAACTCTCACTATCTGGATAGAATTCTTACTCTCT GGATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03490.hp1 HG03492.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0023 a0003c0010t0123 a0003c0010t0023 a0003c0010t0123	a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0123g0038 a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0123g0038	3	318	0.0094	454	c.965 others(469): Show c.965-587_965-586insATCTGGATAGAACTCTCACCCTCTGGATAG AACTCTCAGTCTCTGGATAGAATTCTCACTCTAGATAGAACTCTCACTAT CTATCTGGATAGAATTCTTACTCTAGATAGAACTCTCACTATCTGTCTGG ATAGAATTCTCACCATCTGAATAAAACTCTCACTGTGTGGGAATAGAACT CTCACTCTCTGGATAGAAATCTCACTTTCTATCTGGATAGAATTCTCACC ATGTAGACAGAACTCTCACTATCTGGATAGAATTCTCACCCTCTGGATAG AACTCTCACTATCTGGATAGAATTCTCACCCTCTGGATAGAACTCTCACT CTCTGGATAGAATTCTCACCCTCTGGATGGAACTCTCACTATCTGGATAG AATTCTTACTCTCTGGATAGAACTCTCACTATCTGGATAGAATTCTTACT CTCTGGATGGAACTCTCACTATCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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