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
ADARB2_chr10_1172313_1742525	1617389	C C	CGTCCAGA others(361): Show CGTCCAGACACACTCCACACTGCCCTGCTGAGCTCTGCATCCTGGGAACT GGCCTCAGAGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGA CACACTCCGCACCACCCTGCTGTGCTCTGCATCCTGGTAATTGACCTCGG AGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCC ACACCGCCCTGCTGTGCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGC ATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCGCACCACC CTGCTGTGCTCTGCATCCTGGGAACTGACCTCAGAGGGTTACATTCTGTT GCTAGATGTTTGTGTGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02055.hp2 others(12): Show HG00639.hp1 HG01081.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 NA18967.hp2 NA18982.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0010 a0008c0008	a0001c0001t0003 a0001c0001t0010 a0001c0001t0022 others(11): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0001t0052 a0001c0003t0040 a0002c0002t0004 a0002c0002t0021 a0002c0002t0026 a0002c0002t0044 a0002c0002t0062 a0005c0010t0006 a0008c0008t0016	a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0010g0013 others(12): Show a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0010g0013 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0036g0072 a0001c0001t0052g0062 a0001c0003t0040g0073 a0002c0002t0004g0082 a0002c0002t0021g0035 a0002c0002t0026g0032 a0002c0002t0044g0049 a0002c0002t0062g0093 a0005c0010t0006g0014 a0008c0008t0016g0003	15	106	0.1415	368	c.100 others(389): Show c.100+119661_100+119662insAGGCACACAAACATCTAGCAACAG AATGTAACCCTCTGAGGTCAGTTCCCAGGATGCAGAGCACAGCAGGGTGG TGCGGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAAC CGTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGCAGGGCGGTGTGGAGT GTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCCGAG GTCAATTACCAGGATGCAGAGCACAGCAGGGTGGTGCGGAGTGTGTCTGG ACGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCTGAGGCCAGTTC CCAGGATGCAGAGCTCAGCAGGGCAGTGTGGAGTGTGTCTGGAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1617404	C C	CACACTGC others(361): Show CACACTGCCCTGCTGAGCTCTGCATCCTGGGAACTGGCCTCAGAGGGCTG CATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCGCACCAC CCTGCTGTGCTCTGCATCCTGGTAATTGACCTCGGAGGGCTGCATTCTGT TGCTAGATGTTTGTGTGCCCCTCCAGACACACTCCACACCGCCCTGCTGT GCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGCATTCTGTTGCTAGAT GTTTGTGTGCCCGTCCAGACACACTCCGCACCACCCTGCTGTGCTCTGCA TCCTGGGAACTGACCTCAGAGGGTTACATTCTGTTGCTAGATGTTTGTGT GCCTGTCCAGACACACTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG01243.hp2 others(15): Show HG00438.hp2 HG01243.hp1 HG01243.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02602.hp1 HG02897.hp1 HG04184.hp2 NA18522.hp1 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0006 a0009c0015	a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 others(13): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0029 a0001c0001t0035 a0001c0001t0057 a0001c0003t0045 a0001c0003t0060 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0063 a0002c0002t0064 a0002c0004t0005 a0003c0006t0067 a0009c0015t0014	a0001c0001t0011g0026 a0001c0001t0012g0024 a0001c0001t0013g0007 others(15): Show a0001c0001t0011g0026 a0001c0001t0012g0024 a0001c0001t0013g0007 a0001c0001t0029g0031 a0001c0001t0035g0079 a0001c0001t0057g0103 a0001c0003t0045g0057 a0001c0003t0060g0104 a0002c0002t0002g0043 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0005g0022 a0002c0002t0008g0058 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0005g0029 a0003c0006t0067g0080 a0009c0015t0014g0008	18	106	0.1698	368	c.100 others(389): Show c.100+119646_100+119647insAGAGTGTGTCTGGACAGGCACACA AACATCTAGCAACAGAATGTAACCCTCTGAGGTCAGTTCCCAGGATGCAG AGCACAGCAGGGTGGTGCGGAGTGTGTCTGGACGGGCACACAAACATCTA GCAACAGAATGCAACCGTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGC AGGGCGGTGTGGAGTGTGTCTGGAGGGGCACACAAACATCTAGCAACAGA ATGCAGCCCTCCGAGGTCAATTACCAGGATGCAGAGCACAGCAGGGTGGT GCGGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAGCC CTCTGAGGCCAGTTCCCAGGATGCAGAGCTCAGCAGGGCAGTGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1617404	C C	CACACTGC others(361): Show CACACTGCCCTGCTGAGCTCTGCATCCTGGGAACTGGCCTCAGAGGGCTG CATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCGCACCAC CCTGCTGTGCTCTGCATCCTGGTAATTGACCTCGGAGGGCTGCATTCTGT TGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCACACCGCCCTGCTGT GCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGCATTCTGTTGCTAGAT GTTTGTGTGCCCGTCCAGACACACTCCGCACCACCCTGCTGTGCTCTGCA TCCTGGGAACTGACCTCAGAGGGTTACATTCTGTTGCTAGATGTTTGTGT GCCTGTCCAGACACACTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	106	0.0094	368	c.100 others(389): Show c.100+119646_100+119647insAGAGTGTGTCTGGACAGGCACACA AACATCTAGCAACAGAATGTAACCCTCTGAGGTCAGTTCCCAGGATGCAG AGCACAGCAGGGTGGTGCGGAGTGTGTCTGGACGGGCACACAAACATCTA GCAACAGAATGCAACCGTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGC AGGGCGGTGTGGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGA ATGCAGCCCTCCGAGGTCAATTACCAGGATGCAGAGCACAGCAGGGTGGT GCGGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAGCC CTCTGAGGCCAGTTCCCAGGATGCAGAGCTCAGCAGGGCAGTGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATATACA others(361): Show TATATACACGTATATATACGTATACGTGTACACACACACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACGTATATA TACGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACACGTATATACG TATACGTGTACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0118 a0001c0001t0110g0118	1	169	0.0059	368	c.48- others(385): Show c.48-70583_48-70582insTATACACGTATATATACGTATACGTGTA CACACACACACGTATATATACGTATACGTGTACACACACACACGTATATA TACGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACGTATATATACGTATACGTGTACACACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACACGTATATACGTATACGTGTACACACACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALDH18A1_chr10_95600941_95661711	95627213	G G	GAGAAAAT others(361): Show GAGAAAATCAATGCTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	372	0.0027	368	c.107 others(385): Show c.1078+228_1078+229insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATATAAGCATTGATTTTCT	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	9/17			chr10	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(361): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACATACGTATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATATTTATACATATATATGTATAAATACGTACATATTTATACATATATA TGTATAAATACGTACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0020 a0001c0001t0109g0020	1	256	0.0039	368	c.39 others(377): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACATACATAT TTATACATATATGTATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACATACGTATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(361): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCC ACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0262 a0006c0007t0001g0262	1	300	0.0033	368	c.654 others(387): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAG GTGGTGGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(361): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCCACCCCCCCCACCCCC CCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCCACCTCCCCCACCCCCCACCCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0194 a0001c0006t0001g0194	1	254	0.0039	368	c.39+ others(385): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCCACCCCCCC CACCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCCCCCCACCT CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCTCCT others(361): Show TCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTC CTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCC CTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTT CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCC CTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCAT CCCCTCTCTGCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02135.hp2 HG02083.hp1 HG02135.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0010 a0002c0010t0001 a0002c0010t0010	a0002c0010t0001g0200 a0002c0010t0010g0222 a0002c0010t0001g0200 a0002c0010t0010g0222	2	254	0.0079	368	c.163 others(383): Show c.163-907_163-906insCACCTCCCTCCCTGCCATCCCCTCTCTGCC CTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTT CCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCG TTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCC CTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCC CTCCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(361): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0308 a0004c0005t0001g0308	1	356	0.0028	368	c.249 others(387): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(361): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATA TATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0304 a0004c0005t0001g0304	1	356	0.0028	368	c.249 others(387): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(361): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAG CCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCGGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	391	0.0026	368	c.36 others(379): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCA GCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCC ACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(361): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGAGG GAAGAGGGAAGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAG GAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGG AGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	186	0.0054	368	c.565 others(387): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCTTCCCTCTTCCCTCCCT CCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCTCC CCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCCCC TTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCCTT CCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCC CTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
C7orf50_chr7_992006_1143247	1127837	A A	ACGATCTC others(361): Show ACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTC GGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCAC CATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	326	0.0031	368	c.-1- others(381): Show c.-1-452_-1-451insCGCCACTGCACTCCAGCCCGGGTGACGGTGGG ATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGA GCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGATGGTGGGATGAGCCG AGATTGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGAT GGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCG CCACTGCACTCCAGCCCGGGTGACGGTGAGATGAGCCGAGATTGTGCCAC TGCACTCCAGCCCGGGTGACGGTGAGATGAGCCGAGATGGCGCCACTGCA CTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2539479	G G	GGGGGCCG others(361): Show GGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGG CATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0006 a0001c0017t0006g0006	1	104	0.0096	368	c.139 others(389): Show c.1391-10462_1391-10461insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAAGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCACGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(361): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGGGAGGGGAGAGGGAGAGGGAGACGGGG AGAGGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGA CGGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	386	0.0026	368	c.803 others(382): Show c.803-100_803-99insAGACGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGGGAGGGGAGAGGGAGAGGGAGACGGGGAGA GGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGGCGGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(361): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAGACGGGGGAG AGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	386	0.0026	368	c.803 others(382): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAGACGGGGGAGAGG GAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAC GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(361): Show TCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCC ACGGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0019 a0007c0017t0002g0019	1	284	0.0035	368	c.411 others(385): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD247_chr1_167425640_167523529	167435262	G G	GGAGCCCT others(361): Show GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCA GCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAG CCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAG CCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCC CTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCC TTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCC CTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT TCCTCCAGCCCTTCCTCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0044 a0001c0002t0006g0044	1	374	0.0027	368	c.336 others(383): Show c.336+136_336+137insTGGAGGAAGGGCTGGAGGAAGGGCTGGAGG AGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGG AAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGA AGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAG GGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAA GGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGG GCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGC TCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(361): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA19030.hp1 HG01109.hp2 NA19030.hp1	a0005 a0008 a0005 a0008	a0005c0030 a0008c0008 a0005c0030 a0008c0008	a0005c0030t0038 a0008c0008t0084 a0005c0030t0038 a0008c0008t0084	a0005c0030t0038g0005 a0008c0008t0084g0270 a0005c0030t0038g0005 a0008c0008t0084g0270	2	334	0.0060	368	c.-25 others(379): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(361): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0170 a0001c0004t0003g0170	1	334	0.0030	368	c.-25 others(379): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(361): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	388	0.0026	368	c.487 others(385): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(361): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATAGA ATATATATATATAGAATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	388	0.0026	368	c.487 others(385): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAG others(361): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0001 a0021c0020t0001	a0021c0020t0001g0270 a0021c0020t0001g0270	1	440	0.0023	368	c.12 others(379): Show c.1280_*1281insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCTA TATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATC TATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATA GATTATATATCTATATAGATTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CEP72_chr5_607340_658553	650488	G G	GGACTGTG others(361): Show GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAG GTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTG TGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGACT GTGAGGCGTGACTGTGAGGTGTGACTGTGAGGTGTGCCTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACTGAGGTGT GACTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	368	c.177 others(387): Show c.1779-2464_1779-2463insTGTGGACTGTGAGGTGTGACTGTGAG GTGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGCGTGACTG AGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACT GTGAGGTGTGACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTG GACTGTGAGGGGTGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGA CTGTGAGGCATGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(361): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC GTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACGTAT ATATACTCATATACGTGTG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	372	0.0027	368	c.894 others(383): Show c.894+750_894+751insCACACGTATATGAGTATATATACGTGTATA TACACACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTA TATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATA CACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAG TATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATA TACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(361): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0262 a0001c0001t0006g0262	1	372	0.0027	368	c.894 others(383): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(361): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	372	0.0027	368	c.894 others(383): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACG TATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(361): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACGTGTATATATACTCATA TACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	372	0.0027	368	c.894 others(383): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATA CGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133879	C C	CCCTCTCT others(361): Show CCCTCTCTCTCTTCCTCCCTCTCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCTCCTCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTC CACCTCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCACCTCCCTCTCTCTCTCCCTCTCCTCTCTCCACCTCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	223	0.0045	368	c.-41 others(379): Show c.-4165_-4164insCCTCTCTCTCTTCCTCCCTCTCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCTCCTCCTCTCTCCACCTCCCCTCTC TCTCTCCTCCCTCTCCACCTCTCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCACCTCCCTCTCTCTCTCCCTCTCC TCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3882		chr19	TogoVar
CNOT6_chr5_180489379_180583358	180552970	A A	ATCATTTC others(361): Show ATCATTTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	334	0.0030	368	c.300 others(383): Show c.300-400_300-399insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCATTTCCACTTTCTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500959	T T	TGTGTTGG others(361): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGTGTGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0002 a0005c0057t0002	a0005c0057t0002g0035 a0005c0057t0002g0035	1	292	0.0034	368	c.268 others(387): Show c.2684-3048_2684-3047insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GGGGTGTGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL5A3_chr19_9954561_10015504	9970419	G G	GCTGTGGG others(361): Show GCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGTAAGC GGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTAAGGT GAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGG TGAGTGGGGTCTGTGGTTGACTGGGTGCTGTGGGGTGAGTGGGGTCTGTA GGTGAGTGGGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGT GGGGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTC TGTGGTTGACTGGGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTGGGG TCTGTGGGGTAAGCGGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0003 a0017c0018t0003	a0017c0018t0003g0011 a0017c0018t0003g0011	1	412	0.0024	368	c.393 others(385): Show c.3936+202_3936+203insTCCCCGCTTACCCCACAGACCCCACTCA CCCACAGATTCCACTCACCCCACAGACCCCAGTCAACCACAGACCCCACT CACCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCC ACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACCTACAGACCC CACTCACCCCACAGCACCCAGTCAACCACAGACCCCACTCACCCACAGAC CCCACTCACCCACAGACCCCACTCACCCACAGACCCCACTCACCTTACAG CCCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCC ACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
CR1L_chr1_207640133_207728703	207686120	C C	CTCCCTCC others(361): Show CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0328 a0009c0010t0001g0328	1	346	0.0029	368	c.463 others(385): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCC CTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(361): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAG CCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0112 a0001c0007t0001g0112	1	167	0.0060	368	c.646 others(383): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(361): Show ATATATATATGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATGTGTATATATATATATATATATATGTGTAT ATATATATATATATATATGTGTATATATATATATATATATATGTGTGTAT ATATATATATATATATATGTGTATATATATATATATATATGTGTATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0051 a0002c0002t0050 a0002c0002t0051	a0002c0002t0050g0190 a0002c0002t0051g0191 a0002c0002t0050g0190 a0002c0002t0051g0191	2	334	0.0060	368	c.290 others(383): Show c.290-150_290-149insTATATATGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATATATATGTGTATATATATA TATATATATATGTGTATATATATATATATATATATGTGTATATATATATA TATATATATGTGTGTATATATATATATATATATATGTGTATATATATATA TATATATGTGTATATATATATATATATATGTGTATATATATATATATATA TATATGTGTATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(361): Show ATATATATGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTGTGTATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATATATGTGTAT ATATATATATATATATATATATGTGTATATATATATATATATATATGTGT GTATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATGTGTATATATATATATATATATATATGTGTATATATATAT ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0149 a0002c0002t0149	a0002c0002t0149g0218 a0002c0002t0149g0218	1	334	0.0030	368	c.290 others(383): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATATATGTGTATATATATATATATATATATATATGTGTATATATA TATATATATATATGTGTGTATATATATATATATATGTGTATATATATATA TATATATATATGTGTATATATATATATATATATGTGTATATATATATATA TATATATGTGTATATATATATATATATGTGTATATATATATATATATATA TATGTGTATATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(361): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG04184.hp2 NA18999.hp1 HG02071.hp1 HG04184.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0133 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0133	3	345	0.0087	368	c.150 others(387): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DNAH10_chr12_123757301_123940714	123912340	G G	GGGGGGTC others(361): Show GGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGG GGGTCTTTCCCGCAGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTG TCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGAGT CTGTCCTGGGGCGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0071 a0071	a0071c0032 a0071c0032	a0071c0032t0001 a0071c0032t0001	a0071c0032t0001g0083 a0071c0032t0001g0083	1	170	0.0059	368	c.101 others(387): Show c.10135-754_10135-753insGTCTGTCCCGGGGGGGTCTGTCCTGG GGGGGGTCTGTCCCGGGGGGGGTCTTTCCCGCAGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTC TGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGT GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGCGGTCTGTCCTGGGGGGGGT CTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(361): Show AATATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATACATA TATACACATACATATATATATACATATATATATACATATATATATACGTA TATATATATACGTGTATATATATATACGTATATATATATACGTGTGTATA TATATACACATATATATATACACGTATATATATACACGTATATATATACA CATATATATATATACACATATATATATATACACACATATATATATATACA CATATATATATATACACATATATATATATACACACATATATATATACACA CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	266	0.0038	368	c.730 others(387): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTGTAT ATATATATGTGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATATGTGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATACGTGTATATATATACGTGTATATATATATGTGTATATATATACAC ACGTATATATATATACGTATATATATATACACGTATATATATATACGTAT ATATATATGTATATATATATGTATATATATATGTATGTGTATATATGTAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATGTATATGTATGTGTATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNM2_chr19_10713079_10836903	10758331	T T	TTCCTTCC others(361): Show TTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp1 NA20300.hp1 HG02615.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273	3	278	0.0108	368	c.162 others(385): Show c.162-1396_162-1395insCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758343	T T	TTCCTTCC others(361): Show TTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0141 a0001c0005t0002g0141	1	278	0.0036	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(361): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	278	0.0036	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(361): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	278	0.0036	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(361): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	278	0.0036	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(361): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19081.hp2 NA18948.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0147 a0001c0002t0001g0148	2	278	0.0072	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(361): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(101): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02074.hp2 HG02145.hp1 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18995.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(101): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0002g0206 a0001c0001t0002g0222 a0001c0001t0003g0088 a0001c0001t0003g0164 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0008g0087 a0001c0001t0009g0033 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0002g0170 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0003t0001g0168 a0001c0003t0001g0177 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184	104	278	0.3741	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(361): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	278	0.0036	368	c.162 others(385): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK1_chr10_126900428_127457516	126947448	G G	GTGGTGGT others(361): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0120 a0001c0004t0002g0120	1	136	0.0074	368	c.47- others(385): Show c.47-23247_47-23246insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947456	G G	GGTTGGTA others(361): Show GGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0096 a0001c0061t0001g0096	1	136	0.0074	368	c.47- others(385): Show c.47-23221_47-23220insGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTG TTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar

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