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
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG06807.hp2 HG00438.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0008 a0001c0001t0001g0025	2	224	0.0089	421	c.18 others(432): Show c.1863_*1864insTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGC TGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTAC TCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCA GCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACC CAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACC TCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGC TACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	223	0.0045	421	c.18 others(432): Show c.1863_*1864insTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGT TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTA CTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCC AGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCAC CCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACAC CTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAG CTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	157	0.0064	421	c.91+ others(434): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	421	c.91+ others(434): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(414): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	261	0.0038	421	c.91+ others(434): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(414): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGA GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAG GGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0004 a0008c0023t0004	a0008c0023t0004g0076 a0008c0023t0004g0076	1	237	0.0042	421	c.140 others(438): Show c.140+8240_140+8241insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCCACCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(414): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGTGG GGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGA GAAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGG GAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAAA GGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGG AGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGG AGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA20752.hp1 HG01517.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0096 a0001c0001t0028 a0001c0001t0096	a0001c0001t0028g0154 a0001c0001t0096g0159 a0001c0001t0028g0154 a0001c0001t0096g0159	2	143	0.0140	421	c.154 others(438): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC TCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(414): Show TCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCCACCCTCCCACCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCC CTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCC CTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	421	c.433 others(438): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAAGGTGGGAGGGTGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCTCC others(414): Show TCCTCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCACT CCTTCTCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCC CCCTGCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTTCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTTCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02886.hp1 HG01070.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0193 a0001c0001t0007g0285 a0001c0001t0007g0193 a0001c0001t0007g0285	2	69	0.0290	421	c.226 others(440): Show c.2262+7528_2262+7529insTCCCCCTCCTCCCCCTCCCCTCCCCC TCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCT CCCCTCCCCTCCTCCCACTCCTTCTCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCCTCCCCCTGCTCCCCCTCCTTCCCTCCCCCTCCTC CCCCTCCTCCCCTTCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCC CTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTTCCCTCC CCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCCCTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCTCC others(414): Show TCCTCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCT CCTTCTCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCC CCCTGCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTTCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTTCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp2 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0186 a0001c0001t0028g0237 a0001c0001t0007g0186 a0001c0001t0028g0237	2	69	0.0290	421	c.226 others(440): Show c.2262+7528_2262+7529insTCCCCCTCCTCCCCCTCCCCTCCCCC TCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCT CCCCTCCCCTCCTCCCCCTCCTTCTCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCCTCCCCCTGCTCCCCCTCCTTCCCTCCCCCTCCTC CCCCTCCTCCCCTTCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCC CTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTTCCCTCC CCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCCCTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCBP3_chr21_45638725_45947450	45909767	C C	CCCCACCC others(414): Show CCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCAC TGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCA CACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGAT GTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATA CGGACCCCCCCAACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCGCCACC CACTGCCCAGATATGGACCCGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	289	0.0035	421	c.471 others(436): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCC GGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATG GACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCC AGATACGGACCCCCCTCACCTGCTTCCCAAATATGGATGTGGCCCACCCA CTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCA ACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCCGCCACCCACTGCCCAGAT ATGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(414): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAG GAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	10	0.1000	421	c.305 others(442): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGG GAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGA GGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDE10A_chr6_165322289_165668241	165619400	T T	TAGCCTAG others(414): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCTAGTGTA CTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGTAGTGTA GTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGTAGTCTA GTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGTAGTGTA GTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTA GTGTACTGTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTAGTCTA GTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGTACTGTA GTGTAGTGCAGTGGTCTAGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02922.hp1 others(1): Show HG02280.hp2 HG02486.hp2 HG02922.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0012	a0001c0001t0009 a0001c0002t0003 a0001c0005t0002 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0005t0002 a0002c0012t0002	a0001c0001t0009g0126 a0001c0002t0003g0125 a0001c0005t0002g0132 others(1): Show a0001c0001t0009g0126 a0001c0002t0003g0125 a0001c0005t0002g0132 a0002c0012t0002g0204	4	219	0.0183	421	c.865 others(440): Show c.865+42546_865+42547insGCACTAGACCACTGCACTACACTACA GTACACTAGACTACACTAGACTAGACTACATTACACTACAGTACACTAGA CTACACTACACTAGACTACACTACACTACACTACACTACAGTACACTAGA CTACACTAGACTACACTACACTACACTACAGTACACTAGACTATACTACA CTACACTGGACTACACTATACTAGACTACACTAGACTGTACTACACTAGA CTACACTGCACTACACTACAGTACACTAGACTACACTAGACTACACTACA CTACACCACACCACACCACACTAGACTACACTATACTACACTACAGTACA CTAGACTACACTACACTATACTAGACTACACTAGACTACACTACTACACT ACACTAGCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165619409	C C	CTAGTGTA others(414): Show CTAGTGTAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGT GTAGTGTAGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTGTAGTCT AGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTGGTGT AGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGT AGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGT AGTGTAGTATAGTCTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGT AGTCTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGT ACTGTAGTGTAGTGCAGTGGTCTAGTGCAGTGTAGTCTAGTGTAGTACAG TCTAGTGTAGTCTAGTGTAGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG06807.hp1 others(1): Show HG02145.hp2 HG02809.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0002t0002 a0001c0004t0018 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0004t0018 a0001c0005t0002	a0001c0001t0003g0030 a0001c0002t0002g0128 a0001c0004t0018g0143 others(1): Show a0001c0001t0003g0030 a0001c0002t0002g0128 a0001c0004t0018g0143 a0001c0005t0002g0133	4	191	0.0209	421	c.865 others(440): Show c.865+42537_865+42538insCACTACACTAGACTACACTAGACTGT ACTACACTAGACTACACTGCACTAGACCACTGCACTACACTACAGTACAC TAGACTACACTAGACTAGACTACATTACACTACAGTACACTAGACTACAC TACACTAGACTACACTACACTACACTACACTAGACTATACTACACTACAC TGGACTACACTATACTAGACTACACTAGACTGTACTACACTAGACTACAC TGCACTACACTACAGTACACTAGACTACACTAGACTACACTACACTACAC CACACCACACCACACTAGACTACACTATACTACACTACAGTACACTAGAC TACACTACACTATACTAGACTACACTAGACTACACTACTACACTACACTA GCCTACACTAGCCTACCCTAGCCTACACTACACTAGGCTACACTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDGFC_chr4_156755454_156976799	156759729	A A	ACACCGAG others(414): Show ACACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGATGCA CCGAGGGTAACCAAACCATGGTCAATGCACCTGGAGACAGGGATGCACCG AGGGACCAAACCACGGTCAATGCACCTAGAGACAGGGATACACCGAGGGT AACCAAACCATAGTCAATGCACCTGGAGACAGGGATACACCGAGGGTAAC CAAACCATAGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAA ACCACGTTCAATGCGCCTGGAGACAGGGATGCACCGAGGGTAACCAAACC ACGGTCAATGCACCTGGAGACAGGGATACACCGAGGGTAACCAAACCATA GTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACGATGGTC AATGCACCTGGAGACAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0191	1	206	0.0049	421	c.33 others(432): Show c.3360_*3361insCATCCCTGTCTCCAGGTGCATTGACCATCGTTTG GTTACCCTCGGTGCATCCCTGTCTCCAGGTGCATTGACTATGGTTTGGTT ACCCTCGGTGTATCCCTGTCTCCAGGTGCATTGACCGTGGTTTGGTTACC CTCGGTGCATCCCTGTCTCCAGGCGCATTGAACGTGGTTTGGTTACCCTC GGTGCATCCCTGTCTCCAGGTGCATTGACTATGGTTTGGTTACCCTCGGT GTATCCCTGTCTCCAGGTGCATTGACTATGGTTTGGTTACCCTCGGTGTA TCCCTGTCTCTAGGTGCATTGACCGTGGTTTGGTCCCTCGGTGCATCCCT GTCTCCAGGTGCATTGACCATGGTTTGGTTACCCTCGGTGCATCCCTGTC TCCAGGTGCATTGACTATGGTTTGGTTACCCTCGGTG	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		724		chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(414): Show CAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA ATGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG GAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0277 a0002c0002t0006g0277	1	202	0.0050	421	c.20- others(436): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(414): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(17): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 others(2): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012	a0001c0004t0003g0007 a0001c0004t0003g0235 a0001c0004t0003g0236 others(14): Show a0001c0004t0003g0007 a0001c0004t0003g0235 a0001c0004t0003g0236 a0001c0004t0003g0239 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0242 a0001c0004t0003g0243 a0001c0004t0003g0244 a0001c0004t0003g0246 a0001c0004t0003g0247 a0001c0004t0003g0248 a0001c0004t0004g0237 a0001c0004t0004g0238 a0001c0004t0008g0290 a0001c0004t0011g0006 a0001c0004t0012g0006	20	201	0.0995	421	c.28- others(436): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(414): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0291 a0001c0004t0003g0291	1	182	0.0055	421	c.28- others(436): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(414): Show TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGG CTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGT GTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGT GTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0126 a0002c0001t0001g0126	1	385	0.0026	421	c.-10 others(438): Show c.-10+1006_-10+1007insCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTC TGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTA TGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTG TGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(414): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATATATAATTATATATTATTTATTATATAATATATAATTA TATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAAT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATTATATATTATGTATTATATAATATATAATTATATATTATGTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATTA TTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0073 a0001c0004t0002g0073	1	83	0.0120	421	c.862 others(438): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATATATAATTATATATTAT TTATTATATAATATATAATTATATAATTATATATTATTTATTATATAATT ATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAAT ATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATAA TATATAATTATATATTATGTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTACATAATTATATATTAT TTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTTA TTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(414): Show AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0015 a0001c0002t0010g0015	1	210	0.0048	421	c.227 others(438): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(414): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGT CATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0097 a0002c0004t0004g0097	1	210	0.0048	421	c.227 others(438): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PROZ_chr13_113153648_113177386	113162009	T T	TCCCCACA others(414): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTC CTGCGCTAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCA GCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCA CGTCCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	371	0.0027	421	c.260 others(436): Show c.260-998_260-997insCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCTCACATCCTCCTCCTGCGCTAGGTCCCCGTCCCTGCCACGTCCCCC CATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCACGTCCCCCCCATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495482	A A	AGGAAGGT others(414): Show AGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCA GAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGG GGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGG GGGAGGGGTGCACAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTG CAGAGGGTGGGGAGGTGGGGGCAGGGGTGCAGAGGGTGGGAAGGTGGGGG AGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	10	0.1000	421	c.-31 others(442): Show c.-319-12885_-319-12884insCACCCTCTGCACCCCTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCCTCTGCACCCCTGCCCCCACCTCCCCACCCTCTGCA CCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCC TCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTC CCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTGTGCACCCCTCCCCC ACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCC TCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTG CACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	221	0.0045	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACCGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	221	0.0045	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	221	0.0045	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACCGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0040 a0040	a0040c0062 a0040c0062	a0040c0062t0001 a0040c0062t0001	a0040c0062t0001g0218 a0040c0062t0001g0218	1	221	0.0045	421	c.205 others(436): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACAGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGG GGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	30	0.0333	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGG GGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGGAGGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	30	0.0333	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGGAGGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0143 a0001c0001t0010g0143	1	30	0.0333	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGGAGGGG AGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGG GGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0120	1	30	0.0333	421	c.36 others(432): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGG AGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGG AGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGG GGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130392360	C C	CGGTCACC others(414): Show CGGTCACCGTCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGAATG TTGTGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTAAA TATTGAATGTTGTGATGACCTGGTCACCGTCATCAAGTGTGTCCATCAGT TACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCATGTG TCCGTCAGTTACCTGGTAAATATTGAATGTTGTGATGACCTGGTCACCGT CATCAAGTGTGTCCATCAGTTACCTGGTGAATATTGAATGTTGTGATGAC CCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGT TGTGATGACCCGGTCACCGTCATCATGTGTGTCCGTCAGTTACCTGGTGA ATATTGAATGTTGTGATGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	178	0.0056	421	c.50 others(432): Show c.5000_*5001insAGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGGACACACATGATGACGGTGACCGGGTCATCACAACATTCAATATT CACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATCACAACA TTCAATATTCACCAGGTAACTGATGGACACACTTGATGACGGTGACCAGG TCATCACAACATTCAATATTTACCAGGTAACTGACGGACACATGATGACG GTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGATGGACAC ACTTGATGACGGTGACCAGGTCATCACAACATTCAATATTTACCAGGTAA CTGACGGACACGTGATGACGGTGACCGGGTCATCACAACATTCAATATTC ACCAGGTAACTGACAGACACACGTGATGACGGTGACC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3772		chr12	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(414): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0245 a0001c0001t0020g0245	1	280	0.0036	421	c.-75 others(440): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAAT ATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACT AAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	305078	G G	GGGGGACA others(414): Show GGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGG GCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGG GGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGAGAGGGGGACAGGGCGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0117 a0006c0007t0007g0117	1	129	0.0078	421	c.351 others(440): Show c.351+14341_351+14342insTCTCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626420	G G	GTGTCATA others(414): Show GTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATAT GTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATAT GTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATAT GTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATAT GTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATGTGT CATATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCA TATATATGTCATATATATGTGTCATATATATGTCATATATGTGTCATATA TATGTCATATATGTGTCATATATATGTCATATATATGTGTCATATATATG TCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0177 a0001c0001t0012g0177	1	187	0.0053	421	c.-24 others(432): Show c.-2404_-2403insTGTCATATATATTGTCATATATATGTGTCATATA TATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATA TATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATA TATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATA TATTGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATAT ATGTCATATATGTGTCATATATATGTCATATATATGTGTCATATATATGT CATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCA TATATGTGTCATATATATGTCATATATGTGTCATATATATGTCATATATA TGTGTCATATATATGTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1977		chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(414): Show TAATATATAATATATATTATATATAATATATTATATATTATATATAATAT ATATTATATATTATATATAATATATAATATATATTATATATTATATATAA TATATAATATATATTATATATAATATATATTATATATAATATATAATATA TATTATATATAATATATATTATATATAATATATAATATATATTATATATT ATATATAATATATATTATATATAATATATATTATATATTATATATTATAT ATAATATATAAATATATTATATATAATATATAATATATAATATATATATA TTATATATAATATATAAATATATATTATATATTATATATAATATATAATA TATTATATATATATTTAATATATATTTTATATATAAATATATATTATATA TATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	29	0.0345	421	c.193 others(440): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATAAAATATATATTAAATATATATATAATATATT ATATATTATATATAATATATAATATATATTTATATATTATATATAATATA TATATATTATATATTATATATTATATATAATATATTTATATATTATATAT AATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATAATATATATTATATATTATATATAATATATATTATATATAATATATA TTATATATTATATATAATATATATTATATATAATATATATTATATATTAT ATATAATATATAATATATATTATATATTATATATAATATATAATATATAT TATATATAATATATAATATATTATATATAATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(414): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATATTATATATA ATATATATAATATATATAAAAAATATATATATTATATAATATATATAATA TATATATTATATAATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	25	0.0400	421	c.151 others(440): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATTATATATTATATATATTATATATATTATATATAAT ATATTATATATAATATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATAAAAAATATATATATTATATAATATATATAATATA TATATTATATAATATATATAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(414): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATTTAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATATTATATAATA TATATATAAAATATATATATTATATATTATATAATATATATATAAAATAT ATATAATATATAATATATGTAATATTATATATATTATATATTATATATAT TATATATTATATATATTATATATAATATATATTATATATTATATATATTA TATATAATATATATTATATATTATATATATTATATATAATATATTATATA TAATATATATAATATATTATATATAATATATATAATATATTATATATATT ATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0009 a0001c0001t0003g0010	2	162	0.0123	421	c.151 others(440): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TTTAATATATATATAAAATATATATATTATATAATATATATATAAAATAT ATATATTATATATTATATAATATATATATAAAATATATATATTATATATT ATATAATATATATATAAAATATATATAATATATAATATATGTAATATTAT ATATATTATATATTATATATATTATATATTATATATATTATATATAATAT ATATTATATATTATATATATTATATATAATATATATTATATATTATATAT ATTATATATAATATATTATATATAATATATATAATATATTATATATAATA TATATAATATATTATATATATTATATATAATATATTATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORCS2_chr4_7187538_7747827	7706244	C C	CCTGGGCA others(414): Show CCTGGGCAGGGATGAGGCTGCGCTCTGCCTGGGCAGGGATGAGGCTGGGC TCTGCCTGGGCAGGGATGAGGCTGGGCTCTGCCTGGGCAGGGATGAGGCT GGGCTCTGTCTGGGCAGGGATGAGGCTGGGCTCTGTCTGGGCAGGGATGA GGCTGGGCTCTGCCTGGACAGAGATGAGGCTGGGCTCTGTCTGGGCAGGG ATGAGGCTGGGCAGGGATGAGGCTGGGCTCTGCCTGGACAGAGATGAGGC TGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGGGATG AGGCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGG GATGAGGCTGCGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGG CAGGGATGAGGCTGGGCTCTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp1 others(1): Show HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0012 a0001c0003t0009 a0002c0004t0009 a0001c0001t0012 a0001c0003t0009 a0002c0004t0009	a0001c0001t0012g0036 a0001c0003t0009g0135 a0002c0004t0009g0060 others(1): Show a0001c0001t0012g0036 a0001c0003t0009g0135 a0002c0004t0009g0060 a0002c0004t0009g0078	4	121	0.0331	421	c.186 others(440): Show c.1868+1979_1868+1980insCGCTCTGCCTGGGCAGGGATGAGGCT GGGCTCTGCCTGGGCAGGGATGAGGCTGGGCTCTGCCTGGGCAGGGATGA GGCTGGGCTCTGTCTGGGCAGGGATGAGGCTGGGCTCTGTCTGGGCAGGG ATGAGGCTGGGCTCTGCCTGGACAGAGATGAGGCTGGGCTCTGTCTGGGC AGGGATGAGGCTGGGCAGGGATGAGGCTGGGCTCTGCCTGGACAGAGATG AGGCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGG GATGAGGCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGG CAGGGATGAGGCTGCGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGCC TGGGCAGGGATGAGGCTGGGCTCTGTCTGGGCAGGGATGAGGCTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(414): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGTGGGAGGGGGAGAGGGAGGGGGAGGGGGAAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0015 a0005c0006t0001g0015	1	12	0.0833	421	c.34 others(430): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCC CCCTCCCTCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCK3_chr4_166728384_167239494	167108978	T T	TATATTTA others(414): Show TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATAAAAATATATATTTATATAAAAA TATATAAAAATATATATTTATATAAAAATATGTATAAATATATATTTATA TAAAAATATGTATAAATATATATTTATATATAAATATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0139 a0001c0007t0001g0139	1	133	0.0075	421	c.190 others(440): Show c.190-46442_190-46441insTATATTTTTATATAAATATATATTTA TATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATATTTATATATAAATATATATTTATACATATTTTTATATA AATATATATTTATACATATTTTTATATAAATATATATTTTTATATATTTT TATATAAATATATATTTTTATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167108978	T T	TATATTTA others(414): Show TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATAAAAATATATATTTATATAAAAA TATATAAAAATATATATTTATATAAAAATATGTATAAATATATATTTATA TAAAAATATGTATAAATATATATTTATATATAAATATATAAATATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	133	0.0075	421	c.190 others(440): Show c.190-46442_190-46441insTATATTTTTATATAAATATATATTTA TATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATATTTATATATTTATATATAAATATATATTTATACATATTTTTATATA AATATATATTTATACATATTTTTATATAAATATATATTTTTATATATTTT TATATAAATATATATTTTTATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STKLD1_chr9_133371366_133411096	133383293	T T	TGATGATG others(414): Show TGATGATGATGGTGGAGATGGTGATGATGATGGTAATGATGGTGATGATG GCGGTGATGGTGATGGTGATGATGGTGGTAATGATGGTAATGATGGTGAT GATAGTGGTGATGGTGACAGTGGTGATGGGTGTGATGGTGGTAATGGTAG TGGTGGTGTGATGATGGTAATGATGGTGATGATGGTGATGGTGACGGTGG TGGTGATAGTGTGATGGTGGTAATGGTGATGGTGTGATGATGGTAATGAT GGTGATAATAGTGGTGATGGTGATGGTGGTGGTGATGGAGTGATGGTGGT AATGGTAGTGATGGTGGTGTGATGATGGTGATGGTGGTGATGGTGATGGC AGTGATGATGGTGGTAATGTTGATGGTAATGATGGTGATGATAGTGGTGA TGGTGACAGTGGAGGTCATGGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	221	0.0045	421	c.175 others(436): Show c.175-562_175-561insATGATGATGGTGGAGATGGTGATGATGATG GTAATGATGGTGATGATGGCGGTGATGGTGATGGTGATGATGGTGGTAAT GATGGTAATGATGGTGATGATAGTGGTGATGGTGACAGTGGTGATGGGTG TGATGGTGGTAATGGTAGTGGTGGTGTGATGATGGTAATGATGGTGATGA TGGTGATGGTGACGGTGGTGGTGATAGTGTGATGGTGGTAATGGTGATGG TGTGATGATGGTAATGATGGTGATAATAGTGGTGATGGTGATGGTGGTGG TGATGGAGTGATGGTGGTAATGGTAGTGATGGTGGTGTGATGATGGTGAT GGTGGTGATGGTGATGGCAGTGATGATGGTGGTAATGTTGATGGTAATGA TGGTGATGATAGTGGTGATGGTGACAGTGGAGGTCATGGAG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
STKLD1_chr9_133371366_133411096	133383293	T T	TGATGATG others(414): Show TGATGATGATGGTGGAGATGGTGATGATGATGGTAATGATGGTGATGATG GCGGTGATGGTGATGGTGATGATGGTGGTAATGATGGTAATGATGGTGAT GATAGTGGTGATGGTGACAGTGGTGATGGGTGTGATGGTGGTAATGGTAG TGGTGGTGTGATGATGGTAATGATGGTGATGATGGTGATGGTGACGGTGG TGGTGATAGTGTGATGGTGGTAATGGTGATGGTGTGATGATGGTAATGAT GGTGATAATAGTGGTGATGGTGATGGTGGTGGTGATGGAGTGATGGTGGT AATGGTAGTGATGGTGGTGTGATGATGGTGATGGTGGTGATGGTGATGGC AGTGATGATGGTGGTAATGTTGATGGTAATGATGGTGATGATAGTGGTGA TGGTGACGGTGGAGGTCATGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00733.hp2 others(91): Show HG00609.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0013 a0016	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0011c0026 a0013c0030 a0016c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0003t0002 a0002c0002t0002 a0002c0005t0004 a0011c0026t0002 a0013c0030t0002 a0016c0029t0002	a0001c0001t0001g0167 a0001c0001t0002g0033 a0001c0001t0002g0186 others(61): Show a0001c0001t0001g0167 a0001c0001t0002g0033 a0001c0001t0002g0186 a0001c0001t0004g0018 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0012g0007 a0001c0003t0002g0141 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0133 a0002c0002t0002g0140 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0200 a0002c0002t0002g0247 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0005t0004g0245 a0011c0026t0002g0143 a0013c0030t0002g0149 a0016c0029t0002g0002	94	314	0.2994	421	c.175 others(436): Show c.175-562_175-561insATGATGATGGTGGAGATGGTGATGATGATG GTAATGATGGTGATGATGGCGGTGATGGTGATGGTGATGATGGTGGTAAT GATGGTAATGATGGTGATGATAGTGGTGATGGTGACAGTGGTGATGGGTG TGATGGTGGTAATGGTAGTGGTGGTGTGATGATGGTAATGATGGTGATGA TGGTGATGGTGACGGTGGTGGTGATAGTGTGATGGTGGTAATGGTGATGG TGTGATGATGGTAATGATGGTGATAATAGTGGTGATGGTGATGGTGGTGG TGATGGAGTGATGGTGGTAATGGTAGTGATGGTGGTGTGATGATGGTGAT GGTGGTGATGGTGATGGCAGTGATGATGGTGGTAATGTTGATGGTAATGA TGGTGATGATAGTGGTGATGGTGACGGTGGAGGTCATGGAG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(414): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0201 a0001c0003t0011g0201	1	170	0.0059	421	c.-18 others(440): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCC CTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCT CTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC CTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCC CTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(414): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGG GGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGG GGGAGGGGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGG GAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0065 a0001c0006t0065	a0001c0006t0065g0273 a0001c0006t0065g0273	1	108	0.0093	421	c.-18 others(440): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCCTCCCCCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCC CTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTC TCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCGGGG others(414): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGT GGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACA CCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGC CGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGC TCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGG GCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGT GGAGCCCGGGGCCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	280	0.0036	421	c.48 others(432): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGC CCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTG TCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCAC CGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191099	T T	TGGGGGGG others(414): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGG GCCGAGGTGACACCGTGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	282	0.0035	421	c.47 others(432): Show c.4741_*4742insCAGCCCACGGTGTCACCTCGGCCCCGGACACCAG GCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCC CGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTC ACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCG GGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAG GCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4488		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191159	T T	TGGGGGGG others(414): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGC TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGG GCCGAGGTGACACCGTGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	268	0.0037	421	c.46 others(432): Show c.4681_*4682insCAGCCCACGGTGTCACCTCGGCCCCGGACACCAG GCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCC CGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTC ACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCG GGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAG GCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4428		chr1	TogoVar

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