Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AGAP1_chr2_235489043_236136793	235597895	T T	TTGTGTGG others(229): Show TTGTGTGGAGCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGGAGCGTG CACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTT TCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG03041.hp2 others(3): Show HG01884.hp1 HG02109.hp1 HG03041.hp2 HG03098.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0018	a0001c0001t0019 a0001c0002t0001 a0001c0003t0009 others(3): Show a0001c0001t0019 a0001c0002t0001 a0001c0003t0009 a0001c0003t0020 a0001c0005t0001 a0001c0018t0049	a0001c0001t0019g0065 a0001c0002t0001g0013 a0001c0003t0009g0096 others(3): Show a0001c0001t0019g0065 a0001c0002t0001g0013 a0001c0003t0009g0096 a0001c0003t0020g0053 a0001c0005t0001g0057 a0001c0018t0049g0080	6	98	0.0612	236	c.163 others(257): Show c.163+103065_163+103066insTTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCG TGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGG AGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGG AGCGTGCACGCG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597895	T T	TTGTGTGG others(229): Show TTGTGTGGAGCGTGCACGCGTTCCCGTGTTTCCTTTGTGTGGAGCGTGCA CGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTC CTTTGTGTGGAGCGTGCATGCGCTCCCTTGTTTCCTTTGTGTGGAGCGTG CACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTT TCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0089 a0001c0016t0007g0089	1	98	0.0102	236	c.163 others(257): Show c.163+103065_163+103066insTTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCG TGTTTCCTTTGTGTGGAGCGTGCATGCGCTCCCTTGTTTCCTTTGTGTGG AGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTGTGTGG AGCGTGCACGCG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGL_chr1_99845361_99929020	99890378	T T	TTTTTTTT others(229): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCCGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0043 a0002c0003t0021g0043	1	318	0.0031	236	c.281 others(253): Show c.2813-841_2813-840insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGG CGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCGCCACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCC AGGATGGT	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK3_chr9_4704556_4746202	4735266	T T	TATATATA others(229): Show TATATATACATATATAAATATATATATACATATATAAATATATATATACA TATATAAATATATATACATATATAAATATATATATACATATATAAATATA TATACATATATAAATATATATATACATATATAAATATATATACATATATA AATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAATATATATACATATATAAATATATATACAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0383 a0001c0001t0002g0383	1	462	0.0022	236	c.151 others(253): Show c.151+5670_151+5671insGTGTATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATATTTATATAT GTATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(229): Show GGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGA GAGGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGCAGAGGGGGGAGAGG GGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGA GGGGAGAGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	356	0.0028	236	c.667 others(251): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC TCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCC CCTTCCCCCTCTCCCCCCTCTGCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCC TCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCTCCCCCT CTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(229): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGAAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGGGAGAGGGG GAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGAGG GGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	356	0.0028	236	c.667 others(251): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTTCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCT CTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(229): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGGGAGAGGGG GAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGAGG GGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0183 a0001c0001t0025g0183	1	356	0.0028	236	c.667 others(251): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCT CTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(229): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCAGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG ATGGAAAGCATGGAACGGGCAGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGATGGAAAGCATGGAACGGGCAGGAAATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0099 a0001c0006t0018g0099	1	268	0.0037	236	c.136 others(253): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCAGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGC ATGGAACGGGCAGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG ATGGAAAGCATGGAACGGGCAGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964985	G G	GTGGAAAG others(229): Show GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG02083.hp2 others(8): Show HG00544.hp2 HG00597.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02523.hp2 HG02896.hp1 NA18945.hp1 NA18971.hp1 NA18983.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0209 a0001c0003t0002g0134 a0001c0003t0002g0195 others(8): Show a0001c0002t0002g0209 a0001c0003t0002g0134 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0203 a0001c0003t0002g0206 a0001c0003t0002g0208 a0001c0003t0002g0210 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0222	11	268	0.0410	236	c.137 others(253): Show c.137-5126_137-5125insATGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGA TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(229): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCTGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0373 a0001c0001t0003g0373	1	406	0.0025	236	c.806 others(251): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGG CGGGGGCGGGCCAGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(229): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	406	0.0025	236	c.806 others(251): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(229): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0286 a0001c0010t0001g0286	1	406	0.0025	236	c.806 others(251): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128514	A A	AGCTCCGA others(229): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	406	0.0025	236	c.806 others(251): Show c.806+575_806+576insGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCG GCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(229): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATATAATTGCATATATAATAT ATATTATATATAATTGTATATATAATATATATTATATATATAATTGTATA TATAATATATATTATATATATAATTGTATATATAATATATATTATATATA TAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	384	0.0026	236	c.-12 others(247): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATATAA TTGCATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATATATTATATATATAATTGTATATATAA TATATATTATATATATAATTGTATATATAATATATATTATATATATAATT GT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(229): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATATAATTGTATATATAATAT ATATTATATATAATTGTATATATAATATATATTATATATATAATTGTATA TATAATATATATTATATATATAATTGTATATATAATATATATTATATATA TAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02132.hp2 HG02976.hp2 others(1): Show HG01891.hp2 HG02132.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0163 a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0163	4	384	0.0104	236	c.-12 others(247): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATATAA TTGTATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATATATTATATATATAATTGTATATATAA TATATATTATATATATAATTGTATATATAATATATATTATATATATAATT GT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGAP28_chr18_6724716_6920716	6841186	T T	TCTCTCTC others(229): Show TCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	248	0.0040	236	c.543 others(253): Show c.543+3781_543+3782insCTCTCTCTCTCTCCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC TCTCTCTC	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(229): Show AGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	246	0.0041	236	c.298 others(253): Show c.2981-321_2981-320insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGT GCCCTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCC CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531545	G G	GGAGCAGC others(229): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	246	0.0041	236	c.298 others(253): Show c.2981-675_2981-674insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531545	G G	GGAGCAGC others(229): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	246	0.0041	236	c.298 others(253): Show c.2981-675_2981-674insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCC CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531840	C C	CGAGCAGC others(229): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	246	0.0041	236	c.298 others(253): Show c.2980+464_2980+465insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCC CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874765	G G	GAGACACA others(229): Show GAGACACACACCAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTGGA GGAACAGTGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTAAGA CAGTCTGGTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTACAG GTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTGTCG GGGATAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03453.hp2 HG03491.hp2 HG00741.hp1 HG03453.hp2 HG03491.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0102 a0005c0088 a0011c0090 a0001c0102 a0005c0088 a0011c0090	a0001c0102t0010 a0005c0088t0003 a0011c0090t0011 a0001c0102t0010 a0005c0088t0003 a0011c0090t0011	a0001c0102t0010g0162 a0005c0088t0003g0024 a0011c0090t0011g0357 a0001c0102t0010g0162 a0005c0088t0003g0024 a0011c0090t0011g0357	3	363	0.0083	236	c.680 others(253): Show c.680-1542_680-1307dupAGAGGTTCTAAGACAGGCTGGAGGAACA GTGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCT GGTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTA AGACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTGTCGGGGATA GAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACCAGGGCGTG TAGGGGGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(229): Show AGGGAGGGGAGGGGAGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGG GACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGA GGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGA CGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	216	0.0046	236	c.311 others(253): Show c.311-1311_311-1310insCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTC CCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTC CCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCC CTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCTCCCCT CCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATM_chr11_108218067_108374102	108262052	A A	ACACTCTG others(229): Show ACACTCTGCAGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCCGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0012 a0023c0033t0012	a0023c0033t0012g0118 a0023c0033t0012g0118	1	304	0.0033	236	c.246 others(255): Show c.2466+2993_2466+2994insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTT CCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTCACTCT GCAGGATATT	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	16/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP10A_chr15_25673712_25868327	25757925	C C	CGATCACC others(229): Show CGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTTACTCATTCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	300	0.0033	236	c.655 others(255): Show c.655-21785_655-21784insAGAATGAGTAAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGA GCAGGTGATC	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ACTCATTC others(229): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0280 a0003c0003t0002g0280	1	300	0.0033	236	c.655 others(255): Show c.655-22337_655-22336insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGA TCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(229): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTATGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	252	0.0040	236	c.251 others(255): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCATACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(229): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18945.hp1 HG00673.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0001t0001g0001 a0001c0002t0001g0003	2	391	0.0051	236	c.36 others(247): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(229): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	391	0.0026	236	c.36 others(247): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83026625	A A	AGGAAAGG others(229): Show AGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATACACAGAGGAG GGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGGG CAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCAG GAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGAG CCTGCAGACAAACCCACCCTCGACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(33): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02683.hp1 HG02896.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0016 others(3): Show a0001c0004 a0001c0006 a0001c0016 a0002c0005 a0002c0015 a0002c0022	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(14): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0023 a0001c0006t0033 a0001c0016t0001 a0002c0005t0003 a0002c0015t0003 a0002c0022t0003	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(32): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0022 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0006t0011g0027 a0001c0006t0023g0030 a0001c0006t0033g0044 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0005t0003g0175 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0022t0003g0029	36	266	0.1353	236	c.297 others(253): Show c.297+8409_297+8410insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTCCCGTCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTC TGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGC AGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTATGCAGG CTCCCTGCCCTCCTCTGTGTATCGGTCGATGGTGGGTTTGTCTGCAGGCT CCCTTTCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026625	A A	AGGAAAGG others(229): Show AGGAAAGGGAGCCTGCAGACAAACCCACTATCGACCGATACACAGAGGAG GGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGGG CAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCAG GAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGAG CCTGCAGACAAACCCACCCTCGACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0018 a0001c0006t0011g0018	1	266	0.0038	236	c.297 others(253): Show c.297+8409_297+8410insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTCCCGTCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTC TGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGC AGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTATGCAGG CTCCCTGCCCTCCTCTGTGTATCGGTCGATAGTGGGTTTGTCTGCAGGCT CCCTTTCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(229): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	184	0.0054	236	c.784 others(251): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374842	G G	GAGGGAGG others(229): Show GAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGG GAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGTAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0169 a0001c0003t0002g0169	1	184	0.0054	236	c.784 others(251): Show c.784-612_784-611insTGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGTAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAA GGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(229): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0082 a0001c0005t0002g0082	1	184	0.0054	236	c.784 others(251): Show c.784-593_784-592insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(229): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAGAGGGGGAGG GGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	298	0.0034	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCATC CCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(229): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGG GGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0201 a0001c0002t0001g0202	2	298	0.0067	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCC CCTCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTCC CCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCC CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(229): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAG GGGAGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03540.hp1 NA18522.hp2 HG03041.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216	3	298	0.0101	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTCC CCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCC CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(229): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAG GGGAGGGGGAGAGGGGGGAGGGAGAGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0218 a0005c0012t0001g0218	1	298	0.0034	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCTCTCCCTCCCCCCTCTCCCC CTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTCC CCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCC CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(229): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGGGGGGAGG GGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01258.hp1 HG00280.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0154 a0001c0002t0001g0155	2	298	0.0067	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTCC CCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCC CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(229): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGAGAGGGGGGAGG GGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	298	0.0034	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCCTCT CCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCC CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(229): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGGAGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGGATGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGG GGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGA GGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	298	0.0034	236	c.51+ others(249): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCATCCCCCCTCTC CTTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTCTCC CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400367	G G	GGGAGAGG others(229): Show GGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAGAGGG GGGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGG AGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGA GGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGG GGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	298	0.0034	236	c.51+ others(249): Show c.51+434_51+435insTCCTCCCCAGTCCATCCCCCTCCTCCCCAGTC CATCCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCT CCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCATCCCC CTCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCT CTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(229): Show ATATATTTATAATAAATATTATATATTATATATTTATAATAAATATTATA TATTATATATTTATAATAAATATTATATATTATATATTTATTATAAATAT TATATATTATATATTTATTATAAATATTATATATTATATATTATATTTAT AATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0014 a0001c0001t0022	a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0022g0102 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0022g0102	3	290	0.0103	236	c.426 others(255): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATAATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATATTTATTATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1orf87_chr1_59985394_60078770	59998180	T T	TGAAAGAA others(229): Show TGAAAGAAATACCTCTGGGTCATGAGTGTGAGGTTTTTGACAAAAGATGA TCGAAACAATAATGATGTTATCTTAGGCTTGTGGGTCCATTTCAAAGGAT GTTAAAGCACTCTTAGTCTGCCAGTCCTGTTCATTTAGCAAAGGAGGCTG GGGCCCAGAAAGTACAAGTGGTTTACTAAGATCACACACATCTTAGAGTA GACCTAAGACTAGAAGCAGGGCATAAAGGCTAGCTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(90): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02615.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0009 a0001c0017 others(3): Show a0001c0001 a0001c0009 a0001c0017 a0001c0019 a0003c0003 a0007c0010	a0001c0001t0001 a0001c0009t0001 a0001c0017t0001 others(3): Show a0001c0001t0001 a0001c0009t0001 a0001c0017t0001 a0001c0019t0001 a0003c0003t0001 a0007c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 others(88): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0244 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0318 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0009t0001g0007 a0001c0009t0001g0120 a0001c0017t0001g0183 a0001c0019t0001g0301 a0003c0003t0001g0250 a0007c0010t0001g0067 a0007c0010t0001g0116 a0007c0010t0001g0119	93	382	0.2435	236	c.127 others(253): Show c.1273-365_1273-364insTGAGCTAGCCTTTATGCCCTGCTTCTAG TCTTAGGTCTACTCTAAGATGTGTGTGATCTTAGTAAACCACTTGTACTT TCTGGGCCCCAGCCTCCTTTGCTAAATGAACAGGACTGGCAGACTAAGAG TGCTTTAACATCCTTTGAAATGGACCCACAAGCCTAAGATAACATCATTA TTGTTTCGATCATCTTTTGTCAAAAACCTCACACTCATGACCCAGAGGTA TTTCTTTC	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	10/11			chr1	TogoVar
C20orf96_chr20_265863_295750	278933	A A	AGGGAGGG others(229): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAG GGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGG AGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0338 a0001c0003t0001g0338	1	410	0.0024	236	c.465 others(251): Show c.465+238_465+239insGCCCTCCGTCCCTCCGTCCCGCCCTCCCTC CCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC GCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCTC CGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCC TCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTC CCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C7orf50_chr7_992006_1143247	1128115	G G	GCCATCTC others(229): Show GCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	326	0.0031	236	c.-1- others(249): Show c.-1-730_-1-729insTGCCACTGCACTCCAGCCCGGGTGACAGGGTG GGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACAGGGTGCG ATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACAGGGTGGGAT GAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGC CGAGATTGTGCCACTGCACTCCAGCCCGGGTGACGGTGAGATGAGCCGAG ATGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(229): Show AGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	236	c.-22 others(247): Show c.-2276_-2275insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(229): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACAGCTGAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	236	c.-22 others(247): Show c.-2276_-2275insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCTCTGCCCTGTGCCCTTCAGCTGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531545	G G	GGAGCAGC others(229): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA19010.hp2 NA18946.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0004 a0001c0001t0001g0007	2	398	0.0050	236	c.-26 others(247): Show c.-2630_-2629insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2435		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531545	G G	GGAGCAGC others(229): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	236	c.-26 others(247): Show c.-2630_-2629insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2435		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531840	C C	CGAGCAGC others(229): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	236	c.-29 others(247): Show c.-2925_-2924insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2730		chr8	TogoVar

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