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
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(472): Show GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGA GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT GGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGG TAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGT GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0007 a0013c0034t0007	a0013c0034t0007g0252 a0013c0034t0007g0252	1	48	0.0208	479	c.257 others(498): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA CCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCC CCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(472): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT AAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGG TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0005 a0017c0037t0005	a0017c0037t0005g0121 a0017c0037t0005g0121	1	48	0.0208	479	c.257 others(498): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCC CCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(472): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGTGAG GAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCC GCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	194	0.0052	479	c.173 others(498): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCC CGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGA AGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGATGGG GGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(472): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGG CTTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTAT TGGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCT GAGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCAC TTAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAG GAGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAG AAACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCT ATTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGA TGGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCC AGCCCAGGCAAGAGTGAGACGCTGTCTCAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	245	0.0041	479	c.-43 others(494): Show c.-43-790_-43-789insTTGAGACAGCGTCTCACTCTTGCCTGGGCT GGAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCA TCTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAAT AGCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTT CTTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTC CTAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAA GTGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTC AGCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCA ATAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAG CCTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(472): Show CAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTA TTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGAT GGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCA GCCCAGGCAAGAGTGAGACGCTGTCTCAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	245	0.0041	479	c.-43 others(494): Show c.-43-790_-43-789insTTTGAGACAGCGTCTCACTCTTGCCTGGGC TGGAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCC ATCTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAA TAGCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTT TCTTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACT CCTAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTA AGTGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCT CAGCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACC AATAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAA GCCTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(472): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTGAAAGATCT CACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCATTC TTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAGCA CCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGAGC AGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGAGC AAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTGAT TTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAGCT GTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTCTC CGCGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01516.hp1 HG01516.hp2 others(5): Show HG01243.hp2 HG01516.hp1 HG01516.hp2 HG02004.hp2 HG03239.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0054 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0018g0001	8	245	0.0327	479	c.98 others(488): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTA TCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTA GAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACC TGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAAT GAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATG GACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAG CAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGG ACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGC AGGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(472): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGAAAGATCT CACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCATTC TTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAGCA CCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGAGC AGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGAGC AAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTGAT TTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAGCT GTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTCTC CACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG03017.hp2 NA18974.hp1 others(1): Show HG01255.hp2 HG03017.hp2 NA18974.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0002 a0001c0002t0001g0043 a0001c0002t0001g0104 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0043 a0001c0002t0001g0104 a0001c0015t0001g0046	4	241	0.0166	479	c.98 others(488): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTA TCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTA GAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACC TGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAAT GAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATG GACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAG CAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGG ACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGC AGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(472): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGC TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGG CCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTG GCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGT GGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGG CAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGC GGCAGGCAGGGTGGCCGTTGTCATGTCATGTGACACACGGCCTGGTTCTG AGAAGCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTG GTTCTGAGAAGCGGCGGGCAGGGTGGCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0287 a0001c0003t0030g0287	1	326	0.0031	479	c.142 others(498): Show c.1423+1642_1423+1643insTGACACACGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAG TGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGA AGTGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAG AAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGT TCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGG CCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATGTCATGTGAC ACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGCCATGTCA TGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTC ATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGGCGG others(472): Show ATGGGCGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATG GATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGGA TGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGATG GATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGGG TGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGTG GGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGGG TGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGTG GATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGAG TGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGTG GATGAGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	193	0.0052	479	c.-24 others(496): Show c.-24-1999_-24-1998insGCGGTGGGTGGATGGATGAGTGGGTGAG TGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTG GATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGG TGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATG CATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGA TGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATG GGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGG TGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTG TGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGG TGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGTG G	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167109041	C C	CTTATATA others(472): Show CTTATATAAAAATATATATAAATATATACTTATATAAAAATATATATAAA TATATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATTATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	69	0.0145	479	c.190 others(498): Show c.190-46505_190-46504insATATATAATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTTA TATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAGTA TATATTTATATATATTTTTATATAAGTATATATTTATATATATTTTTATA TAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(472): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCC ACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCC TATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCC TATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCA TCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCAC CCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATA TCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCAC CGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCAC CCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	28	0.0357	479	c.113 others(498): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCC ACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCA TCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCA CTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATC CCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCT GTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCT ATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCC ATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCCA CCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TM4SF1_chr3_149364022_149382649	149380622	G G	GCCAGCAG others(472): Show GCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCG GCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGG TGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGGGA GGGAGGTTTGGGGGTCAGCCCCCCGCCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	256	0.0039	479	c.-30 others(490): Show c.-3076_-3075insTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGG ACGGGGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGG CAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCTGCTGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2974		chr3	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(472): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	71	0.0141	479	c.-15 others(490): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG AGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMPRSS9_chr19_2355265_2431261	2418880	T T	TCCTCCCT others(472): Show TCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCC TACCTCCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCT ACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGT CTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCC TTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCT CCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTT CCTTCCCCCATCCCTTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0054 a0003c0006t0001g0037 a0001c0001t0001g0054 a0003c0006t0001g0037	2	106	0.0189	479	c.215 others(496): Show c.2154+745_2154+746insCCCTCCACTTCCTTCCCTCCCTCTTTCC TTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC TCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCT TTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCC TTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTT CCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTT CCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCC T	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418967	C C	CCCTCCCT others(472): Show CCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTT TCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTC CCTCCCTCCCTTTCCTTCCCTCTCCTCCCTTTCCTTCCCTCTCCTCCCTC CCTTTCCTTCCCTCTCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTT CCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTC CCTTTCCTTCCCTCTCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTT TCCTTCCCTTCCCTCCCTCCGTTTCCTTTCCTCTCTCCCTTTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCC TCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCACCGTCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	36	0.0278	479	c.215 others(496): Show c.2154+832_2154+833insCCCTTTCCTTTCCTCCCTCCCTCCCTTT CCTTCCCTCTCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTC CCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTTT CCTTCCCTCTCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTTTCCTTTCCT CCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCC CTTTCCTTCCCTCTCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTTCCTT CCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCGTTTCCTTTCCT CTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCG CCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCT CTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTCC T	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(472): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGGTGATATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	98	0.0102	479	c.41- others(496): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGGTGATATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA T	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCATACAC others(472): Show CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCATACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACACC CCCCACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01516.hp2 others(1): Show HG00099.hp2 HG00438.hp1 HG01516.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0200 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0001t0001g0280	4	94	0.0426	479	c.35 others(498): Show c.35+21901_*35+21902insATACACACCACACCCCACACACACCA CACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCATACACACCACACACCCCCCACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCATACACACCACACACCCCCCACACAC CACACCCCATACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACCA CAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(472): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATATAATATATATTATTATATATTATTA TATATAATATAATATATATTATTATATATTATTATATATAATAATATATA ATATATATTATTATATATTATTATATATAATAATATAATATATATTATTA TATATAATAATATAATATATATTATTATATATAATAATATAATATATATT ATTATATATAATAATATAATATATATTATTATATATTATTATATATAATA TAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	11	0.0909	479	c.392 others(496): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATATTATTATATATAATAATATATAATAATATATATTATATTATA TATAATAATATATAATAATATATATTATATTATATATAATAATATATAAT AATATATATTATATTATATATAATAATATATAATAATATATATTATATTA TATATAATAATATATAATAATATATATTATATTATATATAATAATATATA ATAATATATATTATATTATATATAATAATATATAATAATATATATTATAT TATTATATATAATAATATATAATAATATATATTATATTATTATATATAAT A	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(472): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18998.hp2 NA18973.hp1 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0227 a0001c0003t0003g0275 a0001c0003t0003g0227 a0001c0003t0003g0275	2	69	0.0290	479	c.218 others(496): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG G	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131918730	G G	GGGGTGTG others(472): Show GGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGGTGTAGAGT GTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGG TGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATA GGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGG GTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGG GGTGTCGGGTGTGGGGTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTG TCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGT GGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTGTGGGGTG TAGGGTGTGTGGTGTAGGGTATGGGGTGTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	169	0.0059	479	c.251 others(494): Show c.2511+96_2511+97insAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGT GTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGG GGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGTGGGG TGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGT GTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTGTGT GGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGG TGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGT GTGGGGTGTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTG TCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131918778	C C	CGGGTGTG others(472): Show CGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTG TGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGT GTCGGGTGTGTGGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTA TAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGA GTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGG GGTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTG TCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGT GTGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGG TGTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGG GTGTGTGGGGTATAGGGTGTGTGGGGTGTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	220	0.0045	479	c.251 others(496): Show c.2511+128_2511+129insAGTGTGGGGTGTAGTGTGTGGGGTGTCA GGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTG TGGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGT GGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTG TAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGT GTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGT GGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGTC GGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTGT GTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGG TATAGGGTGTGTGGGGTGTTGGGTGTGGGGTGTCGGGGGTGTGGGGTGTA G	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95196869	T T	TTATGTAA others(472): Show TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATA TTTATATATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATGTATGTAATATATAATATATATTTATATATTATATGTATGT AATATATAATATATATTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0025 a0001c0009t0025	a0001c0009t0025g0183 a0001c0009t0025g0183	1	185	0.0054	479	c.213 others(498): Show c.2136+5861_2136+5862insCATATAATATATAAATATATATTATA TATTACATACATATAATATATAAATATATATTATATATTACATACATATA ATATATAAATATATATTATATATTACATAAATATAATATATAAATATATA TTATATATTACATAAATATAATATATAAATATATATTATATATTACATAA ATATAATATATAAATATTATATATTACATAAATATAATATATAAATATTA TATATTACATAAATATAATATATAAATATTATATATTACATAAATATATA TAAATATTATATATTACATAAATATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(472): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTC CCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTC TCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCT CCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0018 a0003c0003t0011g0018	1	33	0.0303	479	c.53- others(492): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCC CCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCT CCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(472): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCTCC TCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCCCATCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	33	0.0303	479	c.53- others(492): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCC TCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCT CCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCC TCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCATCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(472): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCTC CTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCC CCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0067 a0001c0001t0009g0067	1	33	0.0303	479	c.53- others(492): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCC CTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTC CTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCC TCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(472): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03492.hp2 HG02970.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0133 a0001c0001t0007g0069 a0001c0001t0001g0133 a0001c0001t0007g0069	2	34	0.0588	479	c.53- others(492): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(472): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCACATATATCATATATATCATATATATCACATATATGATATATA TATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	193	0.0052	479	c.-36 others(490): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCACATATATCATATATATCATATATATCA CATATATGATATATATATCATATATATCACATATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(472): Show GATATATATCATATGTGATATATATGGTACATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATGTGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCACATGTGATATAT ATCATATATATCATATATATGATATATATCATATATATCATATATATGAT ATATATCATATATCATATATATGATATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	253	0.0040	479	c.-35 others(490): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTACATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATGTGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCACATGTGATATATATCATATATATCATATATATGATATATATCATATA TATCATATATATGATATATATCATATATCATATATATGATATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(472): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATGTCACATATATCACATGTGATATAT ATCATATATATCATATATATGATATATATCATATATATCATATATATGAT ATATATCATATATCATATATATGATATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	253	0.0040	479	c.-35 others(490): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATGTCACATATA TCACATGTGATATATATCATATATATCATATATATGATATATATCATATA TATCATATATATGATATATATCATATATCATATATATGATATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(473): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	219	0.0046	480	c.130 others(499): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(473): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	228	0.0044	480	c.34 others(491): Show c.3435_*3436insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACTCGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770656	C C	CATATATA others(473): Show CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAAT TTATATTTATATATCATATAATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATAATATTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	383	0.0026	480	c.-11 others(491): Show c.-1137_-1136insCATATATAATATTATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATTATATGATATATAAATATAAATT TTTATATATGATATATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1096		chr3	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(473): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0325 a0005c0008t0003g0325	1	236	0.0042	480	c.523 others(499): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5305153	A A	ACACACAC others(473): Show ACACACACATCCTACATCACACACACACATCCCACACCACACACACACAC TTCCCACACCACACACACACACACTTCCCACACCACACACTCACACATCC CACACCACACACATATCCCACACCACACACACATCCCACACCACACACAC ACACCGCACACACACATACACCACACACACACATCCCACACCACACACAT ACCACACCACACACACACAATCCCACACCACACACACACACATCCCACAC CACACACACACATCCCACACCACACACACACATCCCACACCACACACACA TCCACACCACACACACACACATCCCACACCACACACATCCACACCACACA CACACATCCCACACCACACACACACATCCCACACACACATCCCACAACAC ACACACACATCCCACACACACATCCCACAACACACACACACATCCCACAC CACACACATCCACACCACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	330	0.0030	480	c.318 others(499): Show c.3187-1343_3187-1342insTCCTACATCACACACACACATCCCAC ACCACACACACACACTTCCCACACCACACACACACACACTTCCCACACCA CACACTCACACATCCCACACCACACACATATCCCACACCACACACACATC CCACACCACACACACACACCGCACACACACATACACCACACACACACATC CCACACCACACACATACCACACCACACACACACAATCCCACACCACACAC ACACACATCCCACACCACACACACACATCCCACACCACACACACACATCC CACACCACACACACATCCACACCACACACACACACATCCCACACCACACA CATCCACACCACACACACACATCCCACACCACACACACACATCCCACACA CACATCCCACAACACACACACACATCCCACACACACATCCCACAACACAC ACACACATCCCACACCACACACATCCACACCACACACATCCCACACCACA CACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100162442	A A	ATTATGTG others(473): Show ATTATGTGTATATATATGCACATATACACATGCGTGTATATATATGCACA TATACACATGCGTGTATATATATGCACATATACACATGCGTGTATATATA TGCACATATACACATGCGTGTATATATATGCACATATACACATGCGTGTA TATATATGCACATATACACATTATATGTGTATATATATGCACATATACAC ATTATATGTGTATATATATGCACATATACACATTATATGTGTATATATAT GCACATATACACATTATATGTGTATATATATGCACATATACACATTATAT GTGTATATATATGCACATATACACATTATATGTGTATATATATGCACATA TACACATTATATGTGTATATATATGCACATATACACATTATATGTGTATA TATATGCACATATACACATTATGTGTGTATATATATGCACATATACACAT TATGTGTGTATATATATGCACATATACACAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0214 a0004c0030t0001g0214	1	217	0.0046	480	c.118 others(499): Show c.1182-7123_1182-7122insATGTGTATATGTGCATATATATACAC ACATAATGTGTATATGTGCATATATATACACACATAATGTGTATATGTGC ATATATATACACATATAATGTGTATATGTGCATATATATACACATATAAT GTGTATATGTGCATATATATACACATATAATGTGTATATGTGCATATATA TACACATATAATGTGTATATGTGCATATATATACACATATAATGTGTATA TGTGCATATATATACACATATAATGTGTATATGTGCATATATATACACAT ATAATGTGTATATGTGCATATATATACACATATAATGTGTATATGTGCAT ATATATACACGCATGTGTATATGTGCATATATATACACGCATGTGTATAT GTGCATATATATACACGCATGTGTATATGTGCATATATATACACGCATGT GTATATGTGCATATATATACACGCATGTGTATATGTGCATATATATACAC ATAA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1235525	C C	CCTCCCGG others(473): Show CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCCCTGCCTC CCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCC GGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGG TGCTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTG TTTACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACTCC CCTCTGTCTCCCGGTGTTCACTCCCCTCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0033 a0002c0002t0005g0033	1	103	0.0097	480	c.136 others(499): Show c.1362-1681_1362-1680insACAGAGGGGAGTGAACACCGGGAGAC AGAGGGGAGTAAACACCGGGAGACAGAGGGGAGTAAACACCGGGAGGGAG AGGGGAGTAAACACCGGGAGACAGAGGGGAGTAAACACCGGGAGGCAGAG GGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGCAGAGGG GAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGACAGAGGGGA GTAAACACCGGGAGACAGAGGGGAGTAAACACCGGGAGGGAGAGGGGAGT AAGCACCGGGAGGAAGAGGGGAGTAAACACCGGGAGGGAGGGGGGAGTAA ACACCGGGAGGGAGGGGGGAGTAAACACCGGGAGGCAGAGGGGAGTGAAC ACCGGGAGGCAGGGGGGAGTGAACACCGGGAGGCAGGGGGGAGTGAACAC CGGGAGGCAGAGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCG GGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AKAP17A_chrX_1586604_1607520	1596695	C C	CCCTCCTA others(473): Show CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTC CCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCC TCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTC CCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCC TCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCT CCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTC CTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTC CTCTTCCTCCTCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCG TCCTCTTCCTCCTCCATCCCTCCTGCCGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	105	0.0095	480	c.911 others(497): Show c.911+1194_911+1195insCCTCCATCCCTCCCACCCTCCTAGTGAG GTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGCC CTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGTG TCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTC CCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCC TCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATC CCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCC TCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCT CCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTC CT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(473): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	183	0.0055	480	c.125 others(501): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTCCCCC TCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTCCTCCCC CCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCC CTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTC CTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCA CCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTC CTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(473): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG01891.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0018 a0002c0005t0001g0022 a0001c0002t0001g0018 a0002c0005t0001g0022	2	22	0.0909	480	c.132 others(496): Show c.1327-521_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAG GAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTC CTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAG A	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGCAGGA others(473): Show GAGCAGGAGCAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAG GAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGA GGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGG AGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAG GAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGA GGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGG AGGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGCAG GAGCAGGAGCAGGAGCAGGAGCAGGAGCAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0026 a0001c0006t0001g0026	1	45	0.0222	480	c.667 others(499): Show c.667+88884_667+88885insTCTGCTCCTGCTCCTGCTCCTGCTCC TGCTCCTGCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGCTCCTGCTC CTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCT CCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCC TCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTC CTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCC TGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTC CTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCT CCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTGCTCC TGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
APOOL_chrX_84998877_85098315	85088050	T T	TTATACAT others(473): Show TTATACATATATGTATAAATACGTATTAATACATATATGTATAAATACGT ATTAATACATATATGTATAAATACATACATATTTATACATATATGTATAC ATACATATTTATACATATATATGTATAAATACATACATATTTATACATAT ATATGTATAAATACATACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATGTATAAATACGTACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0038 a0001c0001t0075g0038	1	247	0.0040	480	c.39 others(489): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGATGA others(473): Show GGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGG TGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTG ATAATGATGGTAGTTGGTGGTGATGATGGTGATGATGATTATGATGGTGT GTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGGAAA TAATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTGTG ATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGAT GGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATAG TGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGGTG ATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATGCT GGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0011 a0009c0035t0011	a0009c0035t0011g0123 a0009c0035t0011g0123	1	42	0.0238	480	c.33 others(491): Show c.3321_*3322insGTGATGATGGTGGTGGTGGTGATGGAAATGATGA TGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTG GTGTTGGTGGTGGTGATAATGATGGTAGTTGGTGGTGATGATGGTGATGA TGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGG TGGTGGTGATGGAAATAATGATGATGTTAATTGTGGTGTTGATGATGGTA ATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGT GGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGG TGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTG GTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGT GATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(473): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAG TGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACC CTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0049 a0001c0014t0017g0049	1	13	0.0769	480	c.204 others(501): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGCAGGTGGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGCGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCACACTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(473): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCGCCACCTCCC CTCCCGGACGGGGCAGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	13	0.0769	480	c.204 others(501): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCTGCCCCGT CCGGGAGGGGAGGTGGCGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCACTCTGCCCGGCCAGCCCCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(473): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCGCCACCTCCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG03540.hp2 HG02572.hp2 HG02896.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0005 a0001c0006t0002 a0001c0011t0004 a0001c0001t0005 a0001c0006t0002 a0001c0011t0004	a0001c0001t0005g0096 a0001c0006t0002g0012 a0001c0011t0004g0097 a0001c0001t0005g0096 a0001c0006t0002g0012 a0001c0011t0004g0097	3	15	0.2000	480	c.204 others(501): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT CCGGGAGGGGAGGTGGCGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCACTCTGCCCGGCCAGCCCCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(473): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCGCCACCTCCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01109.hp2 others(20): Show HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG02004.hp2 HG02615.hp2 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG04199.hp1 NA18906.hp2 NA18959.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0012 a0002c0004 a0003c0016 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0012t0001 a0002c0004t0002 a0003c0016t0004 a0003c0019t0002	a0001c0001t0001g0100 a0001c0001t0002g0050 a0001c0001t0003g0013 others(20): Show a0001c0001t0001g0100 a0001c0001t0002g0050 a0001c0001t0003g0013 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0003g0094 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0003t0001g0054 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0026 a0001c0003t0010g0051 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0012t0001g0098 a0002c0004t0002g0005 a0003c0016t0004g0027 a0003c0019t0002g0025	23	35	0.6571	480	c.204 others(501): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT CCGGGAGGGGAGGTGGCGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCACTCTGCCCGGCCAGCCCCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(473): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCA CCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCCCACCTCCCCCACC CCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCC CACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTC CCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0238 a0002c0003t0002g0238	1	5	0.2000	480	c.39+ others(497): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCACCCCCCACCTCCCCCCACCCCCACCCA CCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCCCACCTC CCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCC CACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCC CCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCC CC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840096	A A	ACTCCCGT others(473): Show ACTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGC CTCAGCCTCCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTC CCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCA GCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGT GCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTCCCCCCCAGCCTCAGCCT CCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCC TCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCC ACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTCCCCCCCA GCCTCAGCCTCCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTC TCCCGTGCCCTCCAGCCTCAGCCTCCCCACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	250	0.0040	480	c.170 others(499): Show c.1706-2111_1706-2110insGTGCCGTCCAGCCTCAGCCTCCCCAC TCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGC CTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTC CCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTCCCCCCCAGCCTCA GCCTCCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGT GCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCT CCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTCCCC CCCAGCCTCAGCCTCCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCC ACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCA GCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTC TCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCG others(473): Show TGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	223	0.0045	480	c.36 others(491): Show c.3604_*3605insGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(473): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	299	0.0033	480	c.36 others(491): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar

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