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
TRAPPC5_chr19_7675833_7692703	7691972	T T	TCACATTC others(281): Show TCACATTCACGTCCATCAACACATCAACCACCAACACCGTCGCCACGAAC ACATTCACGTCCATCAACACATCAACTACCAACACCATCACCACGAACAC ATTCATGTCCAACAACACATCAACTACCAACACCATTGTCATGAACACAT TCACGTCCATCAACACATCAACCACCAACACCATCAGCACGAATACATTC ACGTCCAACAACACATCAACTACCAACACCATCACCACGAGCACATTCAT GTCCAACAACAAATCAACTACCAACACCACTGTCATGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	175	0.0057	288	c.91 others(299): Show c.9152_*9153insCACATTCACGTCCATCAACACATCAACCACCAAC ACCGTCGCCACGAACACATTCACGTCCATCAACACATCAACTACCAACAC CATCACCACGAACACATTCATGTCCAACAACACATCAACTACCAACACCA TTGTCATGAACACATTCACGTCCATCAACACATCAACCACCAACACCATC AGCACGAATACATTCACGTCCAACAACACATCAACTACCAACACCATCAC CACGAGCACATTCATGTCCAACAACAAATCAACTACCAACACCACTGTCA TGAA	TRAPPC5	ENSG00000181029.9	transcript	ENST00000596148.3	protein_coding		4270		chr19	TogoVar
TRIML1_chr4_188134441_188152743	188151385	G G	GGGAGTGA others(281): Show GGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GACAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	225	0.0044	288	c.40 others(299): Show c.4013_*4014insGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGACAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGC TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAG AAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3643		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(281): Show CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATACACATATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	178	0.0056	288	c.-48 others(299): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATATGTGTATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(281): Show TGTATACATGTATACATGTATACATGTATACATGTATACATGTATACATG TATACATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTA TACATGTATACATGTATACATGTATACGGGTATACATGTATACATGTATA CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0224	1	110	0.0091	288	c.170 others(307): Show c.170+25129_170+25130insCCGTATACATGTATACATGTATACAT GTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGT ATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTAT ACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATACATGTATACCCGTATACATGTATACATATATACATGTATACCC GTATACATGTATACATGTATACATGTATACATGTATACATGTATACATGT ATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSPEAR_chr21_44492893_44716572	44503366	C C	CGGCCTCG others(281): Show CGGCCTCGGTGAGCCCTCGGGGGGAAGAAAGGCTCTGGGAGGAGGCCGGC CTTGGTGAGCCCTTGGGGGGAAGCCGGCCTTGGTGAGCCCACAGGGGGGA AGCAATGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGCGGGAAGCA AGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGTGGAAGCCGGCC TTGGTGAGCCCACAGGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTG GTGAGCCCACGGGGGGAAGCAGTGTGCTGGGAGGAAGCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	291	0.0034	288	c.185 others(307): Show c.1856+1413_1856+1414insAGCTTCCTCCCAGCACACTGCTTCCC CCCGTGGGCTCACCAAGGCCGGCCTCCTCCCAGCGCCTTGCTTCCCCCCT GTGGGCTCACCAAGGCCGGCTTCCACCCAAGGGCTCACCGAGGCCGGCCT CCTCCCAGAGCCTTGCTTCCCGCCGAGGGCTCACCGAGGCCAGCTTCCTC CCAGCACATTGCTTCCCCCCTGTGGGCTCACCAAGGCCGGCTTCCCCCCA AGGGCTCACCAAGGCCGGCCTCCTCCCAGAGCCTTTCTTCCCCCCGAGGG CTCACCGAGGCC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TTC27_chr2_32623050_32826051	32807289	C C	CAAAGTAT others(281): Show CAAAGTATACCAATTTCCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	322	0.0031	288	c.199 others(307): Show c.1999-3716_1999-3715insTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAT ACCAATTTCCTT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBB3_chr16_89918342_89941097	89933983	G G	GCCCGTGG others(281): Show GCCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGA TGCCACGTTCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTC CCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTG TGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGG GCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCG TGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0197 a0003c0005t0001g0197	1	396	0.0025	288	c.277 others(303): Show c.277+407_277+408insCGTGGATGCCACGTTCCCACGTCTGTGTCC TGGGGCGGGGCCGTGGATGCCACGTTCCACGTCTGTGTCCTGGGGCGGGG CCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATG CCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCC CACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGT GTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGG CGGGGGCC	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(281): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGTGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTCGCCAGCTGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00733.hp2 others(16): Show HG00323.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02148.hp1 HG02895.hp1 HG03490.hp2 HG03669.hp1 HG04184.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0273	19	159	0.1195	288	c.-25 others(299): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCTGTCCGTGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TCGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGCGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UNC93A_chr6_167286315_167321014	167295501	A A	ATCCTCGC others(281): Show ATCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTGCCT CGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCT CCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTC GCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCT CCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCG TGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp2 HG02895.hp1 HG03041.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0005 a0013c0022t0002 a0001c0001t0005 a0013c0022t0002	a0001c0001t0005g0090 a0013c0022t0002g0091 a0001c0001t0005g0090 a0013c0022t0002g0091	2	309	0.0065	288	c.270 others(303): Show c.270-522_270-521insCCCTCGTGCTCCTCGCCTCCCTCGTGATCC TCGCCTGCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTGCCTCGTG CTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCT CGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCT GCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTC GCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCT CCTCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UPF3A_chr13_114276601_114310817	114295302	G G	GCTGGCGT others(281): Show GCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGC TCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTG GCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGT CTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGT GCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCC AGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	401	0.0025	288	c.846 others(305): Show c.846+3515_846+3516insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC CTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAG CGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
URAD_chr13_27972717_27993693	27990968	T T	TGTATAGG others(281): Show TGTATAGGTATATGTATATGTATATGTATATGTATATGTATATGTATAGG TATAGGTATAGGTATATGTATATGTATATGTATAGGTGTAGGTGTAGGTA TATGTATAGGTATATGTATATGTATAGGTATATGTATATGTATAGGTATA GGTGTAGGTATATGTATAGGTATATGTATATGTATAGGTATATGTATATG TATAGGTATAGGTGTAGGTATATGTATATGTATAGGTGTAGGTATATGTA TAGGTATAGGTATAGGTATATGTATATGTATAGGTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	240	0.0042	288	c.-23 others(299): Show c.-2332_-2331insCTACACCTATACATATACATATACCTATACCTAT ACCTATACATATACCTACACCTATACATATACATATACCTACACCTATAC CTATACATATACATATACCTATACATATACATATACCTATACATATACCT ACACCTATACCTATACATATACATATACCTATACATATACATATACCTAT ACATATACCTACACCTACACCTATACATATACATATACATATACCTATAC CTATACCTATACATATACATATACATATACATATACATATACATATACCT ATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2276		chr13	TogoVar
VCX3B_chrX_8459830_8471510	8466993	T T	TGGTGTGT others(281): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	237	0.0042	288	c.61 others(297): Show c.610_*611insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		484		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467316	A A	AGGAAGAG others(281): Show AGGAAGAGGTGTGTGGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0007 a0004c0005t0002g0007	1	249	0.0040	288	c.93 others(297): Show c.933_*934insGGAAGAGGTGTGTGGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		807		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(281): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	301	0.0033	288	c.53+ others(303): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS35_chr16_46651132_46694178	46675092	C C	CCTCAATT others(281): Show CCTCAATTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGGAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02300.hp2 others(1): Show HG01243.hp1 HG02055.hp2 HG02300.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141	4	177	0.0226	288	c.915 others(303): Show c.915-433_915-432insTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAT GAATTGAG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	8/16			chr16	TogoVar
XG_chrX_2747040_2821500	2773502	A A	AGAAGGAA others(281): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0255 a0001c0001t0006g0255	1	313	0.0032	288	c.104 others(305): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773566	A A	AGAAGGAA others(281): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	311	0.0032	288	c.104 others(305): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGG AGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773713	A A	AGGAAGGA others(281): Show AGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	306	0.0033	288	c.104 others(303): Show c.104-988_104-987insGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773713	A A	AGGAAGGA others(281): Show AGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0006 a0001c0001t0023g0004 a0001c0001t0023g0006	2	307	0.0065	288	c.104 others(303): Show c.104-988_104-987insGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773729	A A	AGGAAGGA others(281): Show AGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0007 a0001c0002t0007g0007	1	307	0.0033	288	c.104 others(303): Show c.104-972_104-971insGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773774	C C	CGAAGGAA others(281): Show CGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	253	0.0040	288	c.104 others(303): Show c.104-927_104-926insCGAAGGAAGGAAGGAGCGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(281): Show TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG06807.hp1 HG02965.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0020g0174 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0020g0174	3	102	0.0294	288	c.-10 others(305): Show c.-10-3193_-10-3192insCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF16_chr8_144925358_144955880	144947206	T T	TGGGGCCT others(281): Show TGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCT GCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTG TCCTGCTGTGGGCCTGTATCCTGCTGTTGGGCCTGTGTCCTGCTGTTGGG CCTGTGTCCTGCTGTGGGCCTGTACCCTACTGTGGGCCATACCCTGCTGT GGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTT CTGTGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	401	0.0025	288	c.-9- others(301): Show c.-9-992_-9-991insCAGCAGGACACAGGCCCACAGCAGGGTACAGG CCCACAGAAGGGTATGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACA CAGGCCCACAGCAGGGTATGGCCCACAGTAGGGTACAGGCCCACAGCAGG ACACAGGCCCAACAGCAGGACACAGGCCCAACAGCAGGATACAGGCCCAC AGCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGACACAGGC CCACAGCAGGGTACAGGCCCACAGAAGGGTATGGCCCACAGCAGGGTACA GGCCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(281): Show CATCATATATGATATACATCATATACCACATATATGATATACATCATATA TCACACATATGATATACATCATATATCACACATATGATATATATCATATA TCACACATATGATATATATCATATATCACACATATGATATATATCATATA TCACACATATGATATATATCATATATCACACATATGATATATATCATATA TCATACATATCATATATATCATATATATCATATATATCACATATATCATA TATATCATATATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0092 a0001c0001t0013g0093	2	174	0.0115	288	c.-36 others(299): Show c.-3663_-3662insATCATATATGATATACATCATATACCACATATAT GATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATATATCATATATCACACATATGATATATATCATATATCACACATAT GATATATATCATATATCACACATATGATATATATCATATATCACACATAT GATATATATCATATATCATACATATCATATATATCATATATATCATATAT ATCACATATATCATATATATCATATATATCACATATATGATATATATCAT ATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(281): Show CATATATCATATACATCATATACATCACATATATCATATACATAATATAC ATCACATATATGATATATACATCATATACATCACATATATGATATATATA TCATATACATCACATATATGATATATATATCATATACATCACATATATGA TATGTATCATATGTGATATATATCATATACATCACATATATGATACGTAT CATATGTGATATATATCATATATATCACATATATGATACGTATCATATGT GATATATATCATATATATCACATATATGATACGTATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00738.hp2 others(18): Show HG00544.hp1 HG00558.hp1 HG00738.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02165.hp1 HG02698.hp2 HG03491.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18963.hp2 NA18973.hp2 NA18991.hp2 NA19003.hp2 NA19074.hp2 NA19081.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0108 a0001c0001t0003g0002 a0001c0001t0003g0033 others(3): Show a0001c0001t0002g0108 a0001c0001t0003g0002 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0106 a0001c0001t0003g0109	21	50	0.4200	288	c.-36 others(299): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATAATATACATCACATATATGATATATACATCATATACATCACA TATATGATATATATATCATATACATCACATATATGATATATATATCATAT ACATCACATATATGATATGTATCATATGTGATATATATCATATACATCAC ATATATGATACGTATCATATGTGATATATATCATATATATCACATATATG ATACGTATCATATGTGATATATATCATATATATCACATATATGATACGTA TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(281): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATGATATATACATCATATACATCACATATATGATATATATA TCATATACATCACATATATGATATATATATCATATACATCACATATATGA TATGTATCATATGTGATATATATCATATACATCACATATATGATACGTAT CATATGTGATATATATCATATATATCACATATATGATACGTATCATATGT GATATATATCATATATATCACATATATGATACGTATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18999.hp2 NA18953.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0107 a0001c0001t0003g0034 a0001c0001t0003g0107	2	31	0.0645	288	c.-36 others(299): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATGATATATACATCATATACATCACA TATATGATATATATATCATATACATCACATATATGATATATATATCATAT ACATCACATATATGATATGTATCATATGTGATATATATCATATACATCAC ATATATGATACGTATCATATGTGATATATATCATATATATCACATATATG ATACGTATCATATGTGATATATATCATATATATCACATATATGATACGTA TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(281): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATATAAATATATATAAATA TATATAAATATATAAATATATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATAAATATATATATATAAATATATATAAA TATATAAATATATATAAATATATATAAATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	114	0.0088	288	c.-11 others(299): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATATAAATATATAAATAT ATATATATAAATATATATAAATATATATAAATATATAAATATATATATAT AAATATATATAAATATATATAAATATATAAATATATATATATAAATATAT ATAAATATATAAATATATATATAAATATATATAAATATAAATATATATAT ATAAATATATATAAATATATAAATATATATAAATATATATAAATATAAAT ATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ACE_chr17_63472061_63503373	63488529	T T	TATACAGT others(282): Show TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(185): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0009 a0013 a0015 a0016 a0017 a0022 a0023	a0001c0001 a0001c0006 a0001c0007 others(22): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0016 a0001c0018 a0001c0035 a0001c0050 a0001c0051 a0001c0060 a0002c0003 a0002c0059 a0003c0012 a0003c0020 a0005c0015 a0005c0026 a0006c0062 a0009c0019 a0013c0021 a0015c0047 a0016c0063 a0017c0053 a0022c0049 a0023c0046	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(26): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0006t0001 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0010t0001 a0001c0016t0001 a0001c0016t0002 a0001c0018t0001 a0001c0035t0001 a0001c0050t0001 a0001c0051t0001 a0001c0060t0001 a0002c0003t0003 a0002c0059t0003 a0003c0012t0001 a0003c0020t0001 a0005c0015t0002 a0005c0026t0002 a0006c0062t0001 a0009c0019t0001 a0013c0021t0010 a0015c0047t0001 a0016c0063t0001 a0017c0053t0001 a0022c0049t0001 a0023c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0006g0028 a0001c0001t0013g0001 a0001c0006t0001g0001 a0001c0006t0001g0049 a0001c0006t0001g0050 a0001c0006t0001g0055 a0001c0006t0001g0117 a0001c0007t0001g0082 a0001c0007t0002g0013 a0001c0007t0002g0083 a0001c0008t0001g0019 a0001c0008t0001g0105 a0001c0010t0001g0021 a0001c0010t0001g0048 a0001c0010t0001g0052 a0001c0016t0001g0053 a0001c0016t0001g0054 a0001c0016t0002g0132 a0001c0018t0001g0001 a0001c0018t0001g0154 a0001c0035t0001g0047 a0001c0050t0001g0078 a0001c0051t0001g0001 a0001c0060t0001g0106 a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0044 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0158 a0002c0059t0003g0156 a0003c0012t0001g0010 a0003c0012t0001g0051 a0003c0020t0001g0010 a0005c0015t0002g0011 a0005c0026t0002g0011 a0005c0026t0002g0087 a0006c0062t0001g0040 a0009c0019t0001g0020 a0009c0019t0001g0043 a0013c0021t0010g0001 a0015c0047t0001g0118 a0016c0063t0001g0040 a0017c0053t0001g0001 a0022c0049t0001g0096 a0023c0046t0001g0119	188	363	0.5179	289	c.230 others(306): Show c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATA CAGTCACTTTT	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACE_chr17_63472061_63503373	63488529	T T	TATACAGT others(282): Show TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0011 a0001c0065t0011	a0001c0065t0011g0134 a0001c0065t0011g0134	1	176	0.0057	289	c.230 others(306): Show c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATA CAGTCACTTTT	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(282): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGA GAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0063 a0002c0011t0063	a0002c0011t0063g0053 a0002c0011t0063g0053	1	25	0.0400	289	c.259 others(310): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(282): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03669.hp2 others(2): Show HG01257.hp2 HG01258.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1	a0001 a0005 a0001 a0005	a0001c0021 a0001c0071 a0005c0020 others(1): Show a0001c0021 a0001c0071 a0005c0020 a0005c0039	a0001c0021t0004 a0001c0071t0004 a0005c0020t0004 others(1): Show a0001c0021t0004 a0001c0071t0004 a0005c0020t0004 a0005c0039t0005	a0001c0021t0004g0219 a0001c0071t0004g0182 a0005c0020t0004g0220 others(2): Show a0001c0021t0004g0219 a0001c0071t0004g0182 a0005c0020t0004g0220 a0005c0020t0004g0221 a0005c0039t0005g0132	5	29	0.1724	289	c.259 others(310): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTC CCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(282): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	30	0.0333	289	c.51 others(300): Show c.5165_*5166insCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCC TCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCC CTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCT CCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTC CTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCT TCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADCY10_chr1_167804386_167919134	167889442	T T	TGATCTTT others(282): Show TGATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp1 HG01175.hp2 others(10): Show HG00280.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01515.hp2 HG02965.hp2 HG03490.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0019 a0003c0009 a0003c0022 others(3): Show a0002c0019 a0003c0009 a0003c0022 a0003c0056 a0003c0057 a0004c0021	a0002c0019t0002 a0003c0009t0001 a0003c0009t0002 others(5): Show a0002c0019t0002 a0003c0009t0001 a0003c0009t0002 a0003c0009t0003 a0003c0022t0002 a0003c0056t0001 a0003c0057t0002 a0004c0021t0002	a0002c0019t0002g0266 a0003c0009t0001g0305 a0003c0009t0001g0321 others(10): Show a0002c0019t0002g0266 a0003c0009t0001g0305 a0003c0009t0001g0321 a0003c0009t0002g0291 a0003c0009t0002g0295 a0003c0009t0002g0300 a0003c0009t0002g0306 a0003c0009t0003g0296 a0003c0022t0002g0301 a0003c0056t0001g0302 a0003c0057t0002g0304 a0004c0021t0002g0299 a0004c0021t0002g0303	13	322	0.0404	289	c.828 others(306): Show c.828+4410_828+4411insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC ATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAGATC	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	8/32			chr1	TogoVar
ADGRE2_chr19_14727392_14783560	14774673	A A	ATTTTCTT others(282): Show ATTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0070 a0002c0002t0034g0070	1	214	0.0047	289	c.32- others(302): Show c.32-368_32-367insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRL4_chr1_78884764_79011730	79001176	G G	GAGGGGGG others(282): Show GAGGGGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGG GGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGGG GGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGGAGG GAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGGGGGGA GGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0353 a0002c0005t0001g0353	1	138	0.0072	289	c.172 others(306): Show c.172+3893_172+3894insTCTCTCCCTTCCTCCCTCCCTTCCTTCC TTCCTCCCTCCCTCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTC CCTCCCTCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCC TCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTC CCTCCCCCCCT	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14			chr1	TogoVar
ALG6_chr1_63362627_63443553	63376033	C C	CAGTCATG others(282): Show CAGTCATGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG06807.hp1 HG02895.hp1 HG02897.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0010 a0001c0001t0004 a0001c0003t0010	a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0003t0010g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0003t0010g0316	3	386	0.0078	289	c.82+ others(304): Show c.82+4985_82+4986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TCATGCATT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(282): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0174 a0002c0001t0001g0174	1	207	0.0048	289	c.494 others(304): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
AP2A2_chr11_920870_1017240	961578	G G	GCCACCAG others(282): Show GCCACCAGTGAAAAGTAAAGGGCAGAAGCAGATGGAGATGTGGGTCTGAC AGTCGCCGCCACCAGTGAAAAGTAAAGGGCAGAAGCAGATGGAGATGTGG GTCTGACAGAGTCGCCACCACCAGTGAAAAGTAAAGGGCAGAAGCAGATG GAGATGTGGGTCTGACAGTCGCCACCACTAGTGAAAAGTAAAGGGCAGAA GCAGATGGAGATGTGGGTCTGACAGAGTCGCCACCACCAGTGAAAAGTAA ATGGCAGAAGCAGATGGAGATGTGGGTCTGACAGTCGCCA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	129	0.0078	289	c.136 others(306): Show c.136+2124_136+2125insTCGCCGCCACCAGTGAAAAGTAAAGGGC AGAAGCAGATGGAGATGTGGGTCTGACAGAGTCGCCACCACCAGTGAAAA GTAAAGGGCAGAAGCAGATGGAGATGTGGGTCTGACAGTCGCCACCACTA GTGAAAAGTAAAGGGCAGAAGCAGATGGAGATGTGGGTCTGACAGAGTCG CCACCACCAGTGAAAAGTAAATGGCAGAAGCAGATGGAGATGTGGGTCTG ACAGTCGCCACCACCAGTGAAAAGTAAAGGGCAGAAGCAGATGGAGATGT GGGTCTGACAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARID1B_chr6_156772378_157215779	157147379	T T	TCACCCCA others(282): Show TCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACC CTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCAC CCCCGCCTCCGGCCCTGCCCTCCGGCCCCCACCCCAGCCTCCGACCCTGC CCTCCGTCCCCCACCCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCC CGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCT CCGTCCCTCACCCCTGCCTCCGGCCCTGTCCTCCGTCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0030 a0001c0001t0007g0030	1	114	0.0088	289	c.276 others(308): Show c.2762-1239_2762-1238insAGCCTCCGGCCCTGCCCTCCGTCCCC CACCCCAGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCC TGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCCCACC CCAGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCCGCCTCCGACCCTGC CCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCA GCCTCCGGCCCTGCCCTCCGTCCCTCACCCCTGCCTCCGGCCCTGTCCTC CGTCCCCCACCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASAP1_chr8_130047104_130448674	130049401	A A	AGGAGAAC others(282): Show AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGG CAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGA ATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGG GGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAG GAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	275	0.0036	289	c.53 others(300): Show c.5329_*5330insCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGT GTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCC CCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGT TCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2702		chr8	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(282): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG06807.hp2 NA18964.hp1 HG03490.hp1 HG06807.hp2 NA18964.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0002 a0003c0003t0001 a0004c0004t0002	a0003c0003t0001g0177 a0003c0003t0001g0202 a0004c0004t0002g0184 a0003c0003t0001g0177 a0003c0003t0001g0202 a0004c0004t0002g0184	3	151	0.0199	289	c.108 others(306): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(282): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGGGAGAGAGGGAGGGGGAGAGGGAGGGAGG GAGAGAGGGAGAGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGTAAGAGA GGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGAGAGAGG GAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGGGGAGGGA GGGAGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	5	0.2000	289	c.479 others(306): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCCCTCCCTC CCTCCCCCTCCCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCT TTCTCCCCCCTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCC TCCCTCTCTCCCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCC TCTCCCTCTCTCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCC TCCCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCC CTCCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(282): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACCCCCTACC CCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0099 a0001c0006t0001g0099	1	5	0.2000	289	c.39+ others(306): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACC CCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCCCCC CACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(282): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCTACC CCCACCCCTACCCCCCACCCCCCACCTCCCCCACCCCCCACCCCTACCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0100 a0001c0005t0017g0100	1	5	0.2000	289	c.39+ others(306): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACC CCCTACCCCCACCCCTACCCCCCACCCCCCACCTCCCCCACCCCCCACCC CTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCC CACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(282): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18981.hp2 NA18984.hp2 others(1): Show NA18948.hp1 NA18981.hp2 NA18984.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0016 a0001c0001t0001g0044	4	299	0.0134	289	c.36 others(300): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGC AGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375136	G G	GGAGGAGG others(282): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0103 a0009c0012t0001g0103	1	182	0.0055	289	c.784 others(304): Show c.784-325_784-324insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(282): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGAGGGGAGGGGGAGG GGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGG AGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGA GGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	2	0.5000	289	c.51+ others(302): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCC CCTCTTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCATCCCCC TCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTC TCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(282): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATATATATATATTATATATATATTTATATATATATATATTAT ATATATATTTATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	163	0.0061	289	c.-2- others(306): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATAAATATATATATAATATATATATATATAAATATATATATAATATATAT ATATATAAATATATATATAATATATATATATATAAATATATATATAATAT ATATATATATAAATATATATATAATATATATATATATAAATATATATAAT ATATATATATATAAATATATATATAATATATATATATAAATATATATATA ATATATATATATAAAAATATATATATTATATATATATATAAATATATATA TAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501216	A A	ATATATAT others(282): Show ATATATATATTTATATATATATATAATATATATATTTATATATATATATA TTATATATATATTTATATATATATTATATATATATTTATATATATATATA TATTATATATATTTATATATATATATATTATATATATATTTATATATATA TATTATATATATATTTATATATATATATATTATATATATATTTATATATA TATATATTATATATATATTTATATATATATATATTATATATATATTTATA TATATATATATTATATATATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	211	0.0047	289	c.-2- others(306): Show c.-2-22496_-2-22495insATATATATATATATATAAATATATATAT AATATATATATATATAAATATATATATAATATATATATATATAAATATAT ATATAATATATATATATATAAATATATATATAATATATATATATATAAAT ATATATATAATATATATATATAAATATATATATAATATATATATATATAA ATATATATAATATATATATATATATAAATATATATATAATATATATATAA ATATATATATAATATATATATATATAAATATATATATTATATATATATAT AAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BSPH1_chr19_47963046_47997170	47993010	C C	CAAAAAAA others(282): Show CAAAAAAAAAATTGACGAATTAGCCGAGCATGGTGGCATGTGCCTGTTGT CCCAGCACTTTGGGAGGTTGAGGTAGGAGGATCGTTTGCAACCAGGAGTT TGAGACCAGCCTGGGAAACATAATGAGACGCCCCATCTCTACAAAAAAAA AATTGACGAATTAGCCGAGCATGGTGGCATGTGCCTGTTGTCCCAGCACT TTGGGAGGTTGAGGTAGGAGGATCGTTTGCAACCAGGAGTTTGAGACCAG CCTGGGAAACATAATGAGACCCCCATCTCTACAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0412 a0003c0005t0001g0413 a0003c0005t0001g0412 a0003c0005t0001g0413	2	441	0.0045	289	c.-93 others(298): Show c.-930_-929insTTTTTTTTGTAGAGATGGGGGTCTCATTATGTTTCC CAGGCTGGTCTCAAACTCCTGGTTGCAAACGATCCTCCTACCTCAACCTC CCAAAGTGCTGGGACAACAGGCACATGCCACCATGCTCGGCTAATTCGTC AATTTTTTTTTTGTAGAGATGGGGCGTCTCATTATGTTTCCCAGGCTGGT CTCAAACTCCTGGTTGCAAACGATCCTCCTACCTCAACCTCCCAAAGTGC TGGGACAACAGGCACATGCCACCATGCTCGGCTAATTCGTCAATTTTTTT TTT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		841		chr19	TogoVar

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