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
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(810): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGGCCCCCCGCCG GGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCACCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCGCC CGGGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	205	0.0049	817	c.369 others(834): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGG CCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(810): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCC CTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCC CCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCC CCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCTCCCCT CCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	124	0.0081	817	c.65 others(828): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGCAGG AGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGG GAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGA GGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGGT ACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGGC AGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAGG AGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGG GGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCA GGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGG GGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGG AGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGG GCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGG AAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(810): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATTTATATATATATTTATATATATT TATATATATTTATATATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTTATATATATTTATA TATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTA TGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATATAGTTATATATAGTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATTTATATATATAGTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTA TATATATTTATATGTATTTATATATATTTATATATATTTATATATATATA TAAATATATTTATATATATAAATATAAATATTTATATATATTTATATATA TTTATATATATATTTATGTATATTTATATATATTTATATATATATTTATG TATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	80	0.0125	817	c.125 others(834): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATA TTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATA TATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTTATA TATAGTTATGTATAGTTATATATATAGTTATATATAGTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATA TATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTT TATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATA TATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATATT TATATATATTTATATATATTTATATATATATTTATATATTTATTTATATA TATTTATATATGTATTTATATATATTTATATGTATTTATATATATTTATA TATATTTATATATATATATAAATATATTTATATATATAAATATAAATATT TATATATATTTATATATATTTATATATATATTTATGTATATTTATATATA TTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MANBA_chr4_102625770_102765968	102661985	T T	TAATACTA others(810): Show TAATACTATTCATCTTTGGCCATGAGAGAAATGCATATCAAAACCACAAT GAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTTGGGAA ACAACAGGTGCTGGAGAGGGTGTGGAGAAATAGGAAGACTTTTACACTGT TGGTGGGACTGTAAACTAGTTCGTCCACCGTGGAAGACAGTGTGGTGATT CCTCAAGGATCTAGAACCAGAAATACCGTTTGACCCAGCCATCCCATTCC TGGGCATATACCCAAAGTATTATAAATCATGCTGCTACAAAGACACATGC ACATGTATGTTTATTGCAGCACTATTCACAACAGCAAAGACTTGGAACCG ACCCAAATGTCCATCAATGATAGACTAGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTT GTAGGGACATGAATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCA AGGACAAAAAACCAAACACCTCACGTTCTCACTCATAGGTGGGAACTGAA CAATGAGAACACTTGGACACAGGAAGGGGAACATCACACACCGGGACCTG TTGTGGGGTGGGGGTAGGGGGGAGGGATACCATTAGGAGATATACCTAAT GTAAACGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACA TATGTAACTAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTAT AATAAATATATATATATATATATATAAAGAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	276	0.0036	817	c.148 others(836): Show c.1485+2699_1485+2700insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTCTTTATATATATATATATATATATTTATTATACTTTA AGTTCTAGGGTACATGTGCACAACATGCAGGTTAGTTACATATGTATACA TGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCGTTTACATTAGGTA TATCTCCTAATGGTATCCCTCCCCCCTACCCCCACCCCACAACAGGTCCC GGTGTGTGATGTTCCCCTTCCTGTGTCCAAGTGTTCTCATTGTTCAGTTC CCACCTATGAGTGAGAACGTGAGGTGTTTGGTTTTTTGTCCTTGCGATAG TTTGCTGAGAATGATGGTTTCCAGCTTCATTCATGTCCCTACAAAGGACA TGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGC CACATTTTCTTAATCTAGTCTATCATTGATGGACATTTGGGTCGGTTCCA AGTCTTTGCTGTTGTGAATAGTGCTGCAATAAACATACATGTGCATGTGT CTTTGTAGCAGCATGATTTATAATACTTTGGGTATATGCCCAGGAATGGG ATGGCTGGGTCAAACGGTATTTCTGGTTCTAGATCCTTGAGGAATCACCA CACTGTCTTCCACGGTGGACGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTCTTCCTATTTCTCCACACCCTCTCCAGCACCTGTTGTTTCCCAAC TTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGT TTTGATATGCATTTCTCTCATGGCCAAAGATGAATAGTATT	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	11/16			chr4	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(810): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC CCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTC CCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCCCTTCCC TCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCT CCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0059 a0002c0033t0001g0059	1	8	0.1250	817	c.115 others(834): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTC CCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCC TTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCCCTT CCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTC CATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTT CGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926754	G G	GAAGGGGG others(810): Show GAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGG CGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGGAAGGGGG GAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGG TGAGGGGAAGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATG GAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAA GAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGG GGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGA GGGGGAGGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGAGGGGAGGGG GAGGGAGGGTGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	268	0.0037	817	c.250 others(832): Show c.250+574_250+575insTCCCCTCCACCCTCCCTCCCCCTCCCCTCC TCCCCCTCCCCCTCCCTCCCTTCCCTCCCCCCTCCCCCTCCCTTCCCTCC CCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCC TCCCCTCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCT TCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCC CTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCC CTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(810): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTC TTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCTCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCTCCCCT CCTCCCTCCTCCTCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCTCC CCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	4	0.2500	817	c.114 others(836): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCTCCCCTCC TCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTC TCCCCTCCCGTCTCCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCTCTCCCCTCCTCCCTCCTCCTCCTCCCCTCCCCTCCC TCCCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTC CCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(810): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTCATATATATATAAAATAAGATTTT ATATATATTTCATATATATATAAAATAAGATTTTATATATATTTCATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATATATATA TATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18990.hp2 NA19010.hp2 NA18950.hp1 NA18990.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0002g0301 a0001c0001t0003g0226 a0001c0003t0003g0227 a0001c0001t0002g0301 a0001c0001t0003g0226 a0001c0003t0003g0227	3	244	0.0123	817	c.-5+ others(832): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAA ATCTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATGAAATAT ATATAAAATCTTATTTTATATATATATGAAATATATATAAAATCTTATTT TATATATATATGAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGT AAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAAAA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAA ATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(810): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTCATATATATATAAAATAAGATTTTATATATATTTCATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATATATATA TATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	242	0.0041	817	c.-5+ others(832): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAA ATCTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATGAAATAT ATATAAAATCTTATTTTATATATATATGAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGT AAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAAAA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAA ATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(810): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTCATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATATATATA TATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19088.hp2 NA18983.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0224 a0001c0003t0003g0223 a0001c0001t0001g0224 a0001c0003t0003g0223	2	243	0.0082	817	c.-5+ others(832): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAA ATCTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATGAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGT AAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAAAA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAA ATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(810): Show AGAAGAGAGGGGAGGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAA GGAGAAGGGAGGGGTGGGAAGGGAGGGAGGGGAGGGGAAGGGGGAGGGGA AGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGAAG GGGAGGAGGAGGGGAGGAGGGGGGAGGGGAGGAGGGGAGGGGGAGGAGGG GAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGA GGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGAGGAGGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGGAGAGGGGA GGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGA AGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGT GGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGG GGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTA AGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGA GGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0157	1	4	0.2500	817	c.279 others(832): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC CCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCTC CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCC TCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCTCCCCTTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCTCCCTCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCC TTCCCTCCCTTCCCTTCTCCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(810): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	29	0.0345	817	c.537 others(834): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTTGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GCTGGCTGGGCGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCC GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIAS4_chr19_4002736_4044386	4012047	G G	GGGTGTGG others(810): Show GGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTG TGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGG TGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0223 a0001c0005t0005g0223	1	279	0.0036	817	c.28- others(830): Show c.28-861_28-860insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGA GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(810): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGG GCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGG GAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGG ATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	34	0.0294	817	c.299 others(832): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTC AGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGAC TCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCC CACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCC CCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATC CCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTC CCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCC TCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAC others(810): Show AGGGGGACGAGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGAGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGG GGGGACGGGGGGGACGAGGGGGACGAGGGGGACGCGGGGGACGCGGGGGG ACGGGGGGGACGAGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGCG GGGGACGGGGGGGACGGGGGGACGGGGGGGACGAGGGGGACGAGGGGGAC GCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGACGGGGGG GACGAGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGC GGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGAGGGGG ACGAGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGG GGGGACGAGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGCGGGGGA CGGGGGGGACGGGGGGGACGGGGGGAACGGGGGGGACGCGGGGGACGGGG GGGACGGGGGGACGGGGGGGACGGGGGGGACGCGGGGACGGGGGGGACGC GGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGG GGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACG GGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGG GACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGG GGGGGACGCGGGGGACGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0003 a0013c0016t0003	a0013c0016t0003g0064 a0013c0016t0003g0064	1	82	0.0122	817	c.147 others(834): Show c.1474-959_1474-958insCCGTCCCCCGCGTCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCC CCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGC GTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCCGCGTCCCCCC CGTCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCCCGTCCCC CGCGTCCCCCCCGTTCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGT CCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCTCGTCCCCCCCGTCCCCC CCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCTCGTC CCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCTCGTCCCCCCCGTCC CCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCTCG TCCCCCTCGTCCCCCCCGTCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC CCGTCCCCCGCGTCCCCCTCGTCCCCCTCGTCCCCCCCGTCCCCCCGCGT CCCCCGCGTCCCCCTCGTCCCCCTCGTCCCCCCCGTCCCCCCGTCCCCCC CGTCCCCCCCGTCCCCCCCGTCCCCCTCGTCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCTCGTCCCCCTCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(810): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTAT ATGTAATATATATTATACATTATTATATAAGCATATAATATATAATACAT AATACATTATATATAAGCATATAACAATACATAATACATTATATATAAGC ATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	19	0.0526	817	c.24+ others(834): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACATTATACATTATTATATA AGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATATAT TATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATA AGCATATAATATATAATACATAATACATTATATATAAGCATATAACAATA CATAATACATTATATATAAGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(810): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCTCAAAAAAAAAAAAAAAAGGATGGAGTT TTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACGG CAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCGAG TAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATATTTT TAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	154	0.0065	817	c.137 others(834): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGGAGTCTCGCGCTTTCGCCTGACCTCAGGGGA TCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACC GTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGTCTC ACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCAC ACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAGGCG CCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCC ACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACACCCG GCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTACTAT GAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAGACT AGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCGCAG TCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGGATC CCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(810): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	74	0.0135	817	c.-33 others(828): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
RUSC2_chr9_35485111_35566895	35495159	T T	TTTTATAT others(810): Show TTTTATATATTATATTTTATATATAATATAATATATTTTATATATATTTT ATATATAATATAATATATTTTATATAATATATTATATATTATATAATATA TTTTATATAATATATTATATATTATATATAATATTTTATTATGTAATATA TAATATATATTTTATATATTATATATATTTTATTATATAATATATTTATA TATAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGT ATTATATAATATATAATATATAACATATTTTATTATATATTATATAATAA TATATAACATATTTTATTATATATTATATAATATATAACATATTTTATTA TATATTATATAATAATATATAACATATTATATATTATATAATAATATATA ACATATTTTATTATATAATATATAATATATTATATAATATATATTTTATT GTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATA TTATATATAATATATTTTATTGTATATTATATATAATATATTTTATTATA TAATTTATTATAATATATATATTTTATAATATATATAATATATTTTATTA TTATATATTTTATTATAATATATACAATATATTTTATTATAATATATAAT ATATTTTATAATATATATATTTTATTATAATATATATATTTTATAATATA TATATTTTATAATATATATATTTTATTATAATATATATTTTATTATATAT AATATATTTTATAATATATATAATATATTTTATTAAATATATATAATATA TTTTATTAAATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	106	0.0094	817	c.-93 others(834): Show c.-93+4987_-93+4988insTTTATATATTATATTTTATATATAATAT AATATATTTTATATATATTTTATATATAATATAATATATTTTATATAATA TATTATATATTATATAATATATTTTATATAATATATTATATATTATATAT AATATTTTATTATGTAATATATAATATATATTTTATATATTATATATATT TTATTATATAATATATTTATATATAATATATATTTTATATATAATATAAT ATATTTTATTTTATATAATGTATTATATAATATATAATATATAACATATT TTATTATATATTATATAATAATATATAACATATTTTATTATATATTATAT AATATATAACATATTTTATTATATATTATATAATAATATATAACATATTA TATATTATATAATAATATATAACATATTTTATTATATAATATATAATATA TTATATAATATATATTTTATTGTATATAATATATTTTATTGTATATTATA TATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATATTA TATATAATATATTTTATTATATAATTTATTATAATATATATATTTTATAA TATATATAATATATTTTATTATTATATATTTTATTATAATATATACAATA TATTTTATTATAATATATAATATATTTTATAATATATATATTTTATTATA ATATATATATTTTATAATATATATATTTTATAATATATATATTTTATTAT AATATATATTTTATTATATATAATATATTTTATAATATATATAATATATT TTATTAAATATATATAATATATTTTATTAAATATATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(810): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTGTTTCCCCTTCTGCAACGCC TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCT GGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGC AACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGG CTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCC TCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCC TTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGC ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	149	0.0067	817	c.-66 others(826): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		639		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(810): Show GGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGA GGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGG AGGAGGAGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGG GGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGATG CCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATAG GAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAA CAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	2	0.5000	817	c.-12 others(836): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTC TCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGG ACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCAT CTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCT TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(810): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTC GGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCC TGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0130 a0004c0006t0002g0130	1	105	0.0095	817	c.284 others(836): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(810): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCGGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCC GCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GGGGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	207	0.0048	817	c.284 others(836): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCTGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(810): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGT GGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCC CAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGGGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	362	0.0028	817	c.64 others(828): Show c.6452_*6453insGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACC ACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCC CCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
STAT3_chr17_42308324_42393442	42361770	C C	CAAGATAT others(810): Show CAAGATATCTGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT CTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACC CCTACTAGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCTCGTCTGGGA GGTGTACCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGTTT TGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATG GTTGCCGTGTCTGTGTAGAAAGTAGACATGGGAGACTTTTCATTTTGTTC TGTACTAAGATAAATTCTTCTGCCTTGGGATCCTGTTGATCGGTGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCGTTAAGAATCATCACCACTCCCTAATCTCAAGTACCCAG GGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAG AGACCTTTGTTCACTTGTTTATCTGCCAACCTTCCCTCCACTATTGTCCT ATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATA AAAAAAATAAAAATTTAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	299	0.0033	817	c.-23 others(836): Show c.-23-13232_-23-13231insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTCTTTTTTTTTTAAATTTTTATTTTTTTTATTGATC ATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAAT AGTGGAGGGAAGGTTGGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTT CCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTAC TTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCTGCCTTCAAGC ATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTG AGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCAC CGATCAACAGGATCCCAAGGCAGAAGAATTTATCTTAGTACAGAACAAAA TGAAAAGTCTCCCATGTCTACTTTCTACACAGACACGGCAACCATCCGAT TTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCC ATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGAC GAGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCTAGTAGGGGTGGCTG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGACCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACAGATATCTT	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	1/23			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(810): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAG GAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGA GGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	3	0.3333	817	c.597 others(834): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TWIST2_chr2_238843085_238915534	238870478	A A	ACACCCCA others(810): Show ACACCCCACACACACCACACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACATCACATACCCCACACACCACACA CCCCACACACACCACACACCCCCCCACACACCACACACCCCACACACACC ACACACCCCCACACACACCACACCCCACACACACCCACACACACCCACAC ACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCAC ACACACACACATACCCCCACACACCACACACCCCACACACACCACACACC CCCCACACACCACACACCCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACACCACACACCCCACACACACCCACACAAACCACACAC CCTACACACCCCACACACACCACACACACACCATCACATACCACACACAC ATCACATTACCACACACAAACCACACACCACACACACACCACACACCCCA CACACACCACACCACACACAACCACACACCCCACACACACCACACACACC CCACACCCCACACACACCACCACCACACCCCACACACACACCACCCACAC ACCACACACACCCCACACCCACACCCCCACACACACCACAACACCCCCAC ACACACACACACATACCACACACACACCACACCCCATACACACCACACAC ACCACACACACCACACCCCACACACACCACACACACCACACACACCACAC CCCACACCACACACCCACACAACCACACCCCATACACACACACACACACC ACACCCACACCACACCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	262	0.0038	817	c.35 others(836): Show c.35+21748_*35+21749insCCCACACACACCACACACACCACACA CCCCCCACACACCACACCCCACACACACCACACACCCCACACACACATCA CATACCCCACACACCACACACCCCACACACACCACACACCCCCCCACACA CCACACACCCCACACACACCACACACCCCCACACACACCACACCCCACAC ACACCCACACACACCCACACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACACACATACCCCCACACACCACACA CCCCACACACACCACACACCCCCCACACACCACACACCCCCACACACACC ACACCCCACACACACCACACACCCCACACACACACCACACACCCCACACA CACCCACACAAACCACACACCCTACACACCCCACACACACCACACACACA CCATCACATACCACACACACATCACATTACCACACACAAACCACACACCA CACACACACCACACACCCCACACACACCACACCACACACAACCACACACC CCACACACACCACACACACCCCACACCCCACACACACCACCACCACACCC CACACACACACCACCCACACACCACACACACCCCACACCCACACCCCCAC ACACACCACAACACCCCCACACACACACACACATACCACACACACACCAC ACCCCATACACACCACACACACCACACACACCACACCCCACACACACCAC ACACACCACACACACCACACCCCACACCACACACCCACACAACCACACCC CATACACACACACACACACCACACCCACACCACACCCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(810): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19070.hp2 NA19000.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0156 a0001c0001t0001g0054 a0001c0001t0001g0156	2	36	0.0556	817	c.35 others(836): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(810): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACAAACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCG CACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	35	0.0286	817	c.35 others(836): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACAAACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCGCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(810): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp1 HG01192.hp1 others(16): Show HG00544.hp1 HG00733.hp1 HG01192.hp1 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG03927.hp2 NA18747.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18986.hp2 NA18994.hp2 NA19005.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0032 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0110 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0250 a0001c0001t0002g0053 a0001c0001t0002g0278	19	53	0.3585	817	c.35 others(836): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(810): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCG CACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02015.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0240 a0001c0001t0001g0063 a0001c0001t0001g0240	2	36	0.0556	817	c.35 others(836): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCGCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871153	A A	ACCACACC others(810): Show ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACAC ACACCACACACACACATCACATACCACACACACATCACATACCACACACA AACCACACACCACACACACACCACACACCCCACACACACATCACATACCA CACACAAACCACACACCCAACACACACATCACACACCACACACCCCACAC ACACATCACATACCACACACAAACCACACACCCTACACACACCACACACC CCACACACACATCACACACCACACACACCACACACACCCCACACACACCA CACACACACATCACATACCACACACCCGACACACGCCACACACACACCAC ACACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACA CACCACACACCCCACACACACCACACACACACACCACACACACATCACAT ACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACAC CACACACCCCACACACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCCACACACCCCACACACCACACACACACCACACA CACATCACATACCACACACAAACCACACACCCTACACGCACCACACACCC CACACACACCACACACCCGACACACGCCACACACACACCACACACCCCAC GCACACATCACATACCACACACAAACCACACACCCTACACACCCCACACA CCCCACACACACCACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18943.hp2 HG00609.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0171 a0001c0001t0001g0050 a0001c0001t0001g0171	2	335	0.0060	817	c.35 others(836): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR7_chr18_56646359_57034792	57024554	A A	ACTATGAT others(810): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTAT GTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATA TGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGGAT TTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATA GAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTAT GATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0096 a0001c0003t0003g0096	1	100	0.0100	817	c.427 others(836): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATA GTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAG GGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTAT GATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA CTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGAC AGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTAT GTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATA TGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
ZFPM1_chr16_88448280_88542031	88501384	C C	CGTGGGCC others(810): Show CGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGT GCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGA TGCGGGGGCCATCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGG GTGTGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGGTAGCGGTCATG GATGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTG TGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGCGGTC ATGGATGCGGGGGCCATCCCGCCAGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGTGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGGTAGCGG TCATGGATGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCA GACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGC GGGTGTGGGTGCGGGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAG TGGGCCTGGGTGCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATA GCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGAT AGCGGGTGTGGGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGA TAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAG ATAGCGGGTGTGGGTGCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0133 a0001c0001t0015g0133	1	305	0.0033	817	c.268 others(836): Show c.268+12232_268+12233insTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTACTGGTGA TGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCCGCCAGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGGTAGCGGTCATGGATGCGGGGGCCCTCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTG GTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTACT GGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCCGCCAGTGC TGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCCGCAGGTG CTGGTGATGATGGAGGTAGCGGTCATGGATGCGGGGGCCCTCCCGCAGGT GCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGG TGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGGGGGCTCTCCCGCAG GTACTGGTGATGATGGAGATAGTGGGCCTGGGTGCGGGGGCCATCCCGCA GGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGC AGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGGGGGCTCTCCCG CAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCC GCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(810): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGAC ATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTG GTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGT GGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTG TAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGAC TTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGG AGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGA TCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGT GATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATC TGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTCTGAGATT TGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGATCTGTGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0080 a0001c0006t0025g0080	1	143	0.0070	817	c.542 others(834): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTG ATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTG GAGGTGGTGTGATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG CTCTGAGTTATGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTT GTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTT GTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGT GTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGG AGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(810): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGAC ATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTG GTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGT GGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTG TAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGAC TTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGG AGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGA TCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGT GATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATC TGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATT TGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGATCTGTGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0159 a0001c0006t0007g0159	1	143	0.0070	817	c.542 others(834): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTG ATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTG GAGGTGGTGTGATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG CTCTGAGTTATGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTT GTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTT GTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGT GTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGG AGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCB11_chr2_168915781_169036324	168975259	A A	ATCGATAA others(811): Show ATCGATAAATATATAAATATATAAATATTTATATATTTATCGATAAATAT ATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0163 a0001c0002t0007g0163	1	269	0.0037	818	c.130 others(837): Show c.1308+1317_1308+1318insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTA TCGATAAATATATAAATATTTATATATTTATATATTTATCGA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(811): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACC TCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAG CCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGC ACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCA CCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCT CCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	92	0.0109	818	c.-37 others(829): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCC CCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCT CCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCT CCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACC TTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(811): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	168	0.0060	818	c.47- others(835): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP9B_chr18_79064394_79383283	79327573	G G	GCGTGCCC others(811): Show GCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTG GTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTC CCTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGTTAGC ATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGTGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCG TGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGTTAGCATGCTC TCCGTGGTTAACGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGTTAGCATGCTCTCCG TGTTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGTTAGCATGCTCTCCGTGTT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTC CATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCCGTGGTTAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0288 a0001c0006t0007g0288	1	27	0.0370	818	c.177 others(837): Show c.1774-1563_1774-1562insCCTCCGTGGTTAGCGTGCCCTCCCTG GTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTC CGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGT GTGCCCTCCCTGGTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGT TAGCGTGCTCTCCGTGGTTAGTGTGCTCTCCGTGTTTAGCGTGCTCTCCG TGGTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCC TCCCTGGTTAGCATGCTCTCCGTGGTTAACGTGCTCTCCGTGGTTAGTGT GCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCC TGGTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGTGTGCTC TCTCCATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTCCCTGGT TAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCG TGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTA GCGTGCTCTCCGTGGTTAGTGTGCTCTCCGTGGTTAACGTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BAHCC1_chr17_81390457_81471331	81426055	G G	GGTGGTGG others(811): Show GGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAATTGTG GGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATA GTGGTGGGTGATGTGGTTGGCGGTGATAGTGGCGGGTGATGTGGTTGGGG GTGATACTGGTGGGTGATGTGGTTGGTGGTGATGTGGCTGGTGGTGGTGG TTGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGG TGATGTGGTTGGTGGTGATAGTGGTTGGTGGTGATAGTGGTGGGTGATGT GGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTG GTGATAGTGATGGGTGATGTGGTTGGGGGTGATGGTGGGTGATGTGGTTG GGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGATGGTGA TGTGGTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGAT AGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGG GGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGT GATGTGGTTGGGGGTGATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(27): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02809.hp1 HG02895.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0012 a0016 a0020 a0026 a0031 a0032	a0001c0001 a0001c0062 a0002c0008 others(14): Show a0001c0001 a0001c0062 a0002c0008 a0002c0012 a0002c0093 a0003c0002 a0003c0018 a0004c0004 a0004c0011 a0004c0035 a0008c0013 a0012c0031 a0016c0039 a0020c0038 a0026c0041 a0031c0098 a0032c0040	a0001c0001t0002 a0001c0062t0020 a0002c0008t0025 others(16): Show a0001c0001t0002 a0001c0062t0020 a0002c0008t0025 a0002c0008t0037 a0002c0012t0002 a0002c0093t0009 a0003c0002t0013 a0003c0018t0002 a0004c0004t0002 a0004c0004t0014 a0004c0011t0002 a0004c0035t0002 a0008c0013t0006 a0012c0031t0004 a0016c0039t0011 a0020c0038t0002 a0026c0041t0019 a0031c0098t0002 a0032c0040t0002	a0001c0001t0002g0132 a0001c0062t0020g0252 a0002c0008t0025g0253 others(26): Show a0001c0001t0002g0132 a0001c0062t0020g0252 a0002c0008t0025g0253 a0002c0008t0037g0319 a0002c0012t0002g0137 a0002c0093t0009g0015 a0003c0002t0013g0025 a0003c0018t0002g0144 a0004c0004t0002g0003 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0272 a0004c0004t0014g0190 a0004c0011t0002g0023 a0004c0011t0002g0163 a0004c0035t0002g0215 a0008c0013t0006g0029 a0008c0013t0006g0140 a0008c0013t0006g0162 a0012c0031t0004g0016 a0016c0039t0011g0271 a0020c0038t0002g0143 a0026c0041t0019g0013 a0031c0098t0002g0267 a0032c0040t0002g0268	30	326	0.0920	818	c.179 others(833): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGCGGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTGGTT GGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTAATGTGGTTGATGGTGATGTGGTTGGTGGTTATGTGGTTGG TGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGGT GATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGG TTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGG TGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGA TGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGT GGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81426055	G G	GGTGGTGG others(811): Show GGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAATTGTG GGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATA GTGGTGGGTGATGTGGTTGGTGGTGATAGTGGCGGGTGATGTGGTTGGGG GTGATACTGGTGGGTGATGTGGTTGGTGGTGATGTGGCTGGTGGTGGTGG TTGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGG TGATGTGGTTGGTGGTGATAGTGGTTGGTGGTGATAGTGGTGGGTGATGT GGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTG GTGATAGTGATGGGTGATGTGGTTGGGGGTGATGGTGGGTGATGTGGTTG GGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGATGGTGA TGTGGTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGAT AGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGG GGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGT GATGTGGTTGGGGGTGATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0037 a0037	a0037c0089 a0037c0089	a0037c0089t0002 a0037c0089t0002	a0037c0089t0002g0265 a0037c0089t0002g0265	1	297	0.0034	818	c.179 others(833): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTGGTT GGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTAATGTGGTTGATGGTGATGTGGTTGGTGGTTATGTGGTTGG TGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGGT GATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGG TTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGG TGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGA TGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGT GGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(811): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0311 a0004c0006t0013g0311	1	38	0.0263	818	c.248 others(835): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(811): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATTTTTT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	38	0.0263	818	c.248 others(835): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(811): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	38	0.0263	818	c.248 others(835): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(811): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGGTGGATGGA TGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp2 HG03209.hp1 others(1): Show HG02615.hp2 HG03098.hp2 HG03209.hp1 HG06807.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0001c0003 a0020c0036 a0001c0001 a0001c0003 a0020c0036	a0001c0001t0003 a0001c0003t0003 a0001c0003t0007 others(1): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0007 a0020c0036t0003	a0001c0001t0003g0127 a0001c0003t0003g0142 a0001c0003t0007g0016 others(1): Show a0001c0001t0003g0127 a0001c0003t0003g0142 a0001c0003t0007g0016 a0020c0036t0003g0094	4	7	0.5714	818	c.342 others(837): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(811): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCC TCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTC CCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19090.hp2 NA18962.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0032 a0001c0003t0001 a0001c0003t0032	a0001c0003t0001g0124 a0001c0003t0032g0169 a0001c0003t0001g0124 a0001c0003t0032g0169	2	3	0.6667	818	c.162 others(839): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCC CCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCC TCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCC TTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCT CCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(811): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGTGAT GATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATG ATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGT GATGATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGATGG TGATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATG GTGATGGTGATGATAAGGATGATGATGATGATGAGGATGATGGTGGTGAT GATGATGGTGATGACGATGATGGTGATGATGGTGATGACGATGATGGTGA TTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATGATG ATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGGT GATGATGATGGTGATTATGATGATGGTGATGATGGTGATGATGATGGTGA TGATGATGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0011	1	74	0.0135	818	c.937 others(833): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGGTGATGGTGGTGA TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG ATGATGATGATGGTGATGATGATGGTGGTGATGATGGTGATGGTGATGGT GATGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGGTGGTGA TGATGATGGTGATGATGGTGATGGTTATGATGGTGATGGTGATGATGGTG ATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGATGATGATGAT GAGGATGATGGTGGTGATGATGATGGTGATGACGATGATGGTGATGATGG TGATGACGATGATGGTGATTGTGATGATGGTGATGACGATGATGAGGATG GTGATGATGGTGATGATGATGGTGAGGATGGTGATGATGATGGTGATGAT GAGGATGGTGATGATGGTGATGATGATGGTGATTATGATGATGGTGATGA TGGTGATGATGATGGTGATGATGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(811): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGTGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGT TTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGG CGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTG CAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATA ATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGG GCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTT TGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATG GGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0011 a0001c0006t0004g0011	1	13	0.0769	818	c.109 others(837): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGTGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCA GAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAG ATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGG GGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGT ACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAA TATGGGGGCGGGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGC AGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTT ATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978292	T T	TTTATATA others(811): Show TTTATATATATTTATATATATATTTATATATATTTATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATATTTATATATATTTATATTTA TATTTTTATATATAATTTATATATATTTATATTTATATATATTTATATAT ATATTTATATATATATTATATAATATATATTATATATATATTTATATATA TAATATTTATATATATATTTATATATTTATATATATATATTTTTATATAT TTTTATATATATATTTTATATATATATATTTATATATATATATTTATATA TTTATATATTTATATATATTTATATATATATTTTATATATATATTTTATA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATT ATATATACTATATATTTATATATATTTATATATATATTTATATATAATTT ATATATATATTTATATATATTTATATATATATATTTATATATATTTATAT ATATATTTATATATATATATTTATTATATATATATTTATATATATATATT TATATATATATTTATATATTTATATATATTTATATATTTATATATATTTA TATATATAATTTATATATTATATATATATTTATATATTTATATAATATTT ATATATATATTTATATATTTATATATATTTATATATATTTATATATATAT TTATATATTTATATATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	59	0.0169	818	c.-2+ others(835): Show c.-2+56274_-2+56275insTAAATATATAAATATATATAAATATATA AATATATATATAAATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATTAT ATAAATATATAAATATATATATAATATATAAATTATATATATAAATATAT ATAAATATATAAATATATATAAATATATAAATATATATATAAATATATAT ATATAAATATATATATAATAAATATATATATATAAATATATATATAAATA TATATAAATATATATATATAAATATATATAAATATATATATAAATTATAT ATAAATATATATATAAATATATATAAATATATAGTATATATAATATATAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAAATA TATATATAAAATATATATATAAATATATATAAATATATAAATATATAAAT ATATATATATAAATATATATATATAAAATATATATATAAAAATATATAAA AATATATATATATAAATATATAAATATATATATAAATATTATATATATAA ATATATATATAATATATATTATATAATATATATATAAATATATATATAAA TATATATAAATATAAATATATATAAATTATATATAAAAATATAAATATAA ATATATATAAATATATATAAAAATATATATATAAATATAAATATATATAA ATATATATAAAAATATATATATAAATATAAATATATATAAATATATATAT AAATATAAATATATATAAATATATATATAAATATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar

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