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
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(427): Show TCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAGT GCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAGT GATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTTT TTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCC AGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGC ATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	2	0.5000	434	c.55 others(445): Show c.5514_*5515insCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGT TGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAA CTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGG CTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAGT CTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTG CAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATT TTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCC TGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4971		chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(427): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACT CCTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTT CCCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCT CTTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCC CACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCC TCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	198	0.0051	434	c.178 others(449): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGAG GAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGGG GGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGGAGTGGGGGGAGGA GGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGAGGGG AGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGA GGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGGGAG AGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCG GGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGGC AGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(427): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGA GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGG GAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAG GGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03942.hp1 HG03688.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0286 a0002c0002t0001g0287	2	275	0.0073	434	c.465 others(449): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTC CCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCG TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCC GCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNG7_chr19_53904278_53948950	53921768	T T	TCCCCAGG others(427): Show TCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGC AGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCAT TGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTG GCCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGT CTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCC AGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGT CCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGG TGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0230 a0001c0001t0010g0230	1	291	0.0034	434	c.424 others(451): Show c.424+6266_424+6267insCAGGTCTGGTCATTGGTGGAGTTGCCCC AGGTCTGGTCATTGGTGCAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTT GTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGT GGAGTTGTCCCAGGTCTGGCCATTGGTGGAGTTGTCCCAGGCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGT CATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCT GGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAG GTCTGGTCATTGGTGGAGTTGTCCCAGGCCTGGTCATTGGTGGAGTTGTC CCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGT TGCCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAPN15_chr16_522712_559636	544774	A A	ACGTCGCC others(427): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT CTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0334 a0001c0008t0001g0334	1	400	0.0025	434	c.-22 others(451): Show c.-22-2038_-22-2037insCCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	419877	G G	GTGTGTGT others(427): Show GTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACCCTCCATGTTCCATTACAGTGCTCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0394 a0001c0001t0001g0203 a0001c0001t0001g0394	2	380	0.0053	434	c.413 others(451): Show c.413+1269_413+1270insCACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGC AGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGG GTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(427): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01123.hp2 others(13): Show HG00642.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01496.hp1 HG01516.hp1 HG01934.hp2 HG02300.hp2 HG02683.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0004 a0001c0001t0001 a0001c0001t0002 a0002c0004t0004	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0020 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0040 a0002c0004t0004g0081	16	42	0.3810	434	c.349 others(449): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA AACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATAGTAGTTA TATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(427): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	27	0.0370	434	c.349 others(449): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATAGTAGTTA TATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(427): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0181 a0001c0005t0001g0181	1	27	0.0370	434	c.349 others(449): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATAGTTTATATATACTATATATACTATATATAGTAGTTA TATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(427): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	29	0.0345	434	c.27 others(445): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACAAGTGTGTATATACGTATATACACAAGT GTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(427): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	92	0.0109	434	c.80- others(449): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAA AATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	AATATATA others(427): Show AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTTTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATATTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0291 a0001c0001t0011g0292 a0001c0001t0009g0291 a0001c0001t0011g0292	2	390	0.0051	434	c.80- others(449): Show c.80-4979_80-4978insATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTTTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATTTATT TATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAATAT TTAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CHST13_chr3_126519155_126548291	126539862	C C	CCAAACCA others(427): Show CCAAACCACACATGGACCCTCCACACACCACACACACACCACACATTCCA CACAAGCACACTACACCACACAAGCACACCACACGCATACCACACAAAAA TGCCACACATTCCCACACACCACAAACACACCACCCACATGACACACACT ACACACACACCACACACCATATATGCCACACACAACACACACAACACACG CTACACACACACCCCATACACACACACCACACACACCAGACACACACAAA CACCACACACACCAGACACAACACACAACACACACACACCACAGGTGTGC ACCACACACACACCACATGCACACACACACACCACCTACCAAAAGTGTGC ACCACACGCACCACGTGCATACCAACACACACCACACACACCAGACACAC CACACACACACCACACACACTCCATACACATACAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02300.hp1 HG02717.hp1 others(4): Show HG01884.hp1 HG02300.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp1 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0039 a0001c0001t0001g0085 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0115 a0006c0008t0001g0032	7	322	0.0217	434	c.181 others(451): Show c.181-1869_181-1868insAACCACACATGGACCCTCCACACACCAC ACACACACCACACATTCCACACAAGCACACTACACCACACAAGCACACCA CACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAACACAC CACCCACATGACACACACTACACACACACCACACACCATATATGCCACAC ACAACACACACAACACACGCTACACACACACCCCATACACACACACCACA CACACCAGACACACACAAACACCACACACACCAGACACAACACACAACAC ACACACACCACAGGTGTGCACCACACACACACCACATGCACACACACACA CCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACACA CCACACACACCAGACACACCACACACACACCACACACACTCCATACACAT ACAACA	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539862	C C	CCAAACCA others(427): Show CCAAACCACACATGGACCCTCCACACACCACACACACACCACACATTCCA CACAAGCACACTACACCACACAAGCACACCACACGCATACCACACAAAAA TGCCACACATTCCCACACACCACAAACACATCACCCACATGACACACACT ACACACACACCACACACCATATATGCCACACACAACACACACAACACACG CTACACACACACCCCATACACACACACCACACACACCAGACACACACAAA CACCACACACACCAGACACAACACACAACACACACACACCACAGGTGTGC ACCACACACACACCACATGCACACACACACACCACCTACCAAAAGTGTGC ACCACACGCACCACGTGCATACCAACACACACCACACACACCAGACACAC CACACACACACCACACACACTCCATACACATACAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp1 others(37): Show HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01496.hp1 HG01978.hp1 HG02040.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG04184.hp1 HG04204.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp2 NA18977.hp2 NA18983.hp1 NA18990.hp1 NA19070.hp1 NA19080.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0005g0075	40	355	0.1127	434	c.181 others(451): Show c.181-1869_181-1868insAACCACACATGGACCCTCCACACACCAC ACACACACCACACATTCCACACAAGCACACTACACCACACAAGCACACCA CACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAACACAT CACCCACATGACACACACTACACACACACCACACACCATATATGCCACAC ACAACACACACAACACACGCTACACACACACCCCATACACACACACCACA CACACCAGACACACACAAACACCACACACACCAGACACAACACACAACAC ACACACACCACAGGTGTGCACCACACACACACCACATGCACACACACACA CCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACACA CCACACACACCAGACACACCACACACACACCACACACACTCCATACACAT ACAACA	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(427): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACGTGTGTATATACACGTATATATACT CATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	240	0.0042	434	c.894 others(449): Show c.894+674_894+675insCGTATATACACACGTATATGAGTATATATA CGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGTA TATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210574	A A	ATATATAT others(427): Show ATATATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTC AAGGTATATATATATATATATATAGTCTCCCTAATTGTAATTCAAGGTAC GTATGTATATATATATATATATATATATATATATATATATATATATAGTC TCCCTAATTCTAATTCAAGGTACATATATATATATATATATATATAGTCT CCCTAATTCTAATTCAAGGTACATATATATATATATATATATATATATAT AGTCTCCCTAATTCTAATTCAAGGTACATATATATATATATATATATATA GTCTCCCTAATTCTAATTCAAGGTACATATATATATATATATATAGTCTC CCGAATTCTAATTCAAGGTACATATATATATATATATATATATATATATA TATATATATATAGTCTCCCTAATTCTAATTCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	460	0.0022	434	c.46 others(445): Show c.4673_*4674insCCTTGAATTAGAATTAGGGAGACTATATATATAT ATATATATATATATATATATATATATATATGTACCTTGAATTAGAATTCG GGAGACTATATATATATATATATATGTACCTTGAATTAGAATTAGGGAGA CTATATATATATATATATATATATGTACCTTGAATTAGAATTAGGGAGAC TATATATATATATATATATATATATATATGTACCTTGAATTAGAATTAGG GAGACTATATATATATATATATATATATGTACCTTGAATTAGAATTAGGG AGACTATATATATATATATATATATATATATATATATATATATATACATA CGTACCTTGAATTACAATTAGGGAGACTATATATATATATATATATACCT TGAATTAGAATTAGGGAGACTATATATATATATATATATATATATATATA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3431		chr21	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACGTCCC others(427): Show CACGTCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA CACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTG GCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCT GGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0139 a0004c0006t0003g0143	2	198	0.0101	434	c.294 others(451): Show c.294+4327_294+4328insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTAGGGCATTACC CCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGACGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(427): Show CACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCACTGGATGGCGCT GGGGTAACGCCCTACAGCACTGGATGGCGCTGGGGTAACGCCCTACAGCA CTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAA CGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCACTGGATG GCGCTGGGGTAACGCCCTACAGCACTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCT GGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATG CCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	143	0.0070	434	c.294 others(451): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGTGCTGTAGGGCGTTACC CCAGCGCCATCCAGTGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGC CATCCAGTGCTGTAGGGCGTTACCCCAGCGCCATCCAGTGCTGTAGGGCG TTACCCCAGCGCCATCCAGTGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(427): Show CACAGCCCTGGTTGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCTCCA CAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGG GGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCT GGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACA CTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	64	0.0156	434	c.294 others(451): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTGGAG CGTTACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCC AGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCAACCAG GGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(427): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0189 a0001c0002t0041g0189	1	207	0.0048	434	c.925 others(449): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGC ACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGT GCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGT GTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCGT others(427): Show GCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC CGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTTACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	253	0.0040	434	c.928 others(449): Show c.928-757_928-756insTACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT TACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCC GTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647293	C C	CCTCCTCT others(427): Show CCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCC TTCTAGTCCACCACTCCCCCCTCCTCCTCCACAATCCTCCTCCACACCCC TCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCAC ACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCC ACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTATTCCACACCCCT CCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCTCCTCCACACCCCTCCA AATTCCACAGCCCTCCTCCACCTCTACACCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0233 a0001c0007t0001g0233	1	233	0.0043	434	c.51 others(445): Show c.5153_*5154insCTCCTCTGCCACACCCCTACTCCTCCTCACCCAT CCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACAAT CCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC TTATTCCACACCCCTCCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCTC CTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1949		chr15	TogoVar
CYP4F12_chr19_15668087_15702174	15676973	C C	CCACACAC others(427): Show CCACACACTCATTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTTTACCCACACACTCATTCCTCACT CACTCGTTCATCTACCCACTCAACCTTTCCTCTTGTCATGTACTCATTCC TCTACCCACACACTCATTCCTCTCCTCACTCACTCATTCCTCTACCCATG CACTCATTCCTCTCACTCATTCCTTCCTCTCCTCACTCACTCATTCTTCT GCTCACTCAATCATTCCTTCCTCTCCTCACTCACTCATTCTTCTGCTCAC TCACTCATTCCTCTACCCGTGCACCCACTCCTCTCCTCACTCATTCCTTC CTCTCCTCACTCACTCATTCTTCTGCTCGCTCACTCATTCCTCTGCTCAC TCTCATTCCTCTCCTCACTCACTCATTCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0215 a0005c0007t0004g0216 a0005c0007t0004g0215 a0005c0007t0004g0216	2	407	0.0049	434	c.199 others(451): Show c.199-1286_199-1285insCACACTCATTCCTCTCCTCACTCACTCG TTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTTTACC CACACACTCATTCCTCACTCACTCGTTCATCTACCCACTCAACCTTTCCT CTTGTCATGTACTCATTCCTCTACCCACACACTCATTCCTCTCCTCACTC ACTCATTCCTCTACCCATGCACTCATTCCTCTCACTCATTCCTTCCTCTC CTCACTCACTCATTCTTCTGCTCACTCAATCATTCCTTCCTCTCCTCACT CACTCATTCTTCTGCTCACTCACTCATTCCTCTACCCGTGCACCCACTCC TCTCCTCACTCATTCCTTCCTCTCCTCACTCACTCATTCTTCTGCTCGCT CACTCATTCCTCTGCTCACTCTCATTCCTCTCCTCACTCACTCATTCCTC TCTTCA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(427): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGTGTCACACTCGGTCACTCTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	280	0.0036	434	c.150 others(453): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(427): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGG GGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	355	0.0028	434	c.-43 others(445): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DIP2B_chr12_50499985_50753657	50593789	T T	TCCCCTCC others(427): Show TCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0038 a0001c0018t0038	a0001c0018t0038g0189 a0001c0018t0038g0189	1	167	0.0060	434	c.101 others(453): Show c.101-32186_101-32185insCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCT CCCCTCCCCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCCCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516740	G G	GGAAGGGA others(427): Show GGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGAGGGGGGAAGG GGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAA GGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGA GGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGA GGGGGGACAGGGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGAGG GGGGGGACAGGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAC GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACACGGGGTAG GGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0009 a0001c0019t0005g0009	1	12	0.0833	434	c.86- others(451): Show c.86-30211_86-30210insGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCTACCCCGTGTCCCCCCCACCCTACCCCCTGTCCCCCCCCACC CTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCC CCTGTCCCCCCCCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCCTG TCCCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTACCCCCTG TCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTACCCCCTGTC CCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGT CCCCCCCTTACCCCCTTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCC CTTCGCCCCTTCCCCCCTCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCT CCCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EEF1A2_chr20_63483014_63504083	63492466	A A	AGAGATGG others(427): Show AGAGATGGGATGGATGGATGGATGGATTGACAGAAGGATGGATGGGTGGG GAGGTGGATGGATGGATTGAAGGATGGATGGGTGGGGACATGGATGGATG GATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGGGGAGG TGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGATGGAAG GATGGATGGATAGGGAGGTGGGGTGGATGGATGGATGGATGGATGTACAG AAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATGGATGGAT AGATAGAAGGATGGATGGGTGGGACAATAGATGGATGGATAGAGAGAAGG ATGGATGGGTGGGGAGATGGATGGGATGGATGGATGGATAGAGAGAAGGA TGGATGGTTGAGACAATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0113 a0002c0012t0002g0113	1	372	0.0027	434	c.772 others(449): Show c.772+670_772+671insCCATCCATCCATCCATCCATTGTCTCAACC ATCCATCCTTCTCTCTATCCATCCATCCATCCCATCCATCTCCCCACCCA TCCATCCTTCTCTCTATCCATCCATCTATTGTCCCACCCATCCATCCTTC TATCTATCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCA TCCTTCTGTACATCCATCCATCCATCCATCCACCCCACCTCCCTATCCAT CCATCCTTCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCC ACCCACCTCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCAT CCATCCATCCATCCATGTCCCCACCCATCCATCCTTCAATCCATCCATCC ACCTCCCCACCCATCCATCCTTCTGTCAATCCATCCATCCATCCATCCCA TCTC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(427): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAA GGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGG AGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAG GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAG GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02723.hp1 HG02895.hp1 others(6): Show HG01496.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 others(6): Show a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0159 a0007c0007t0001g0160 a0007c0007t0002g0004 a0007c0007t0002g0005	9	48	0.1875	434	c.757 others(451): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCT TCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCC CTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCC CTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCC CTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCC ATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
FOXP1_chr3_70949708_71588728	71435565	A A	AAGGGACG others(427): Show AAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAAGGGAC GGAGGGAGGGAAGGAAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGG AAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGA GGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0015	1	88	0.0114	434	c.-16 others(455): Show c.-168+57860_-168+57861insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTTCCT TCCCTCCCTCCGTCCCTTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCC CTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46145758	T T	TCCCCCTC others(427): Show TCCCCCTCCCCGCCCTCCCCCCCAACAGCGCCCTCCCCCCAACAACTGCG CCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAA CAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTT CCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCT CCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAAC AGCGCCTTCCCCCCACCCCGCGCGCTCCCCCCAACAGCGCCCTCCCCCCA ACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCC TCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCC TTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	212	0.0047	434	c.109 others(449): Show c.1098+59_1098+60insGAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGG GGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGC GCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGCGGGGTGGGGGGAAG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTG GGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGG GAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGGAGGGCGGGGAG GGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(427): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03017.hp1 HG03492.hp2 HG01257.hp1 HG03017.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0001t0001 a0001c0001t0003 a0001c0001t0024	a0001c0001t0001g0073 a0001c0001t0003g0046 a0001c0001t0024g0051 a0001c0001t0001g0073 a0001c0001t0003g0046 a0001c0001t0024g0051	3	132	0.0227	434	c.240 others(453): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(427): Show CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGGGCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0248 a0001c0008t0001g0248	1	263	0.0038	434	c.467 others(449): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGGGCGAGCGGGTGTCAGGACGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGT TGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(427): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGC CATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTC CCACACCACCCCAGCCATCTCCGCCATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	434	c.-40 others(445): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC CGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACA CATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GMDS_chr6_1618806_2250605	1898081	C C	CTTGCCAT others(427): Show CTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCT ATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCA TCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGG CCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGA CACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCT TGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTAC CCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATC CTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCC ACCCTTGCCATCCTGGACACCTATCCTGGCCTCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	163	0.0061	434	c.771 others(453): Show c.771+32021_771+32022insCGGAGGCCAGGATAGGTGTCCAGGAT GGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGG GAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCC AGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCA GGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGG CAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGG TGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGA GGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAG GATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898140	T T	TCCCTTGC others(427): Show TCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACA CCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCT GGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCAC CCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACC TATCCTGGCCACCCTTGCCATCCTGGACACCTACCCTGGCCACCCTTGCC ATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTG GCCTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	43	0.0233	434	c.771 others(453): Show c.771+31962_771+31963insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGTGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGG ATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGG TAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGC CAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGAT GGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(427): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCTTCCCCTCCTTCCCC TTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCC CACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCC TCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04115.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0227 a0001c0001t0003g0236 a0001c0001t0003g0237	3	104	0.0288	434	c.972 others(449): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTT CCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCT CCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTC CCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTT CCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCT CCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(427): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCC TCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCC CCTTTCCCATTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp2 HG01255.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0015 a0001c0001t0002g0017	2	103	0.0194	434	c.972 others(449): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCTTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTTCCCCTCCTTCCCCCT CCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTC CCCCTCCCCTCCTTCCCCTTTCCCATTCCCCTCCTTCCCCTTTCCCCCTT CCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCT CCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074119	T T	TTTTATTC others(427): Show TTTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTATTATTCAATTAAATAAATAT AATAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACA TGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATT CATATATAAATATATGTAAATATACATGTATATTTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATATAATATATGTAAATATA CATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTA TTCATATATAAATATATGTAAATATACATGTAATTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0035 a0002c0004t0035	a0002c0004t0035g0165 a0002c0004t0035g0165	1	175	0.0057	434	c.-97 others(451): Show c.-97-2406_-97-2405insTTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT ATTATTCAATTAAATAAATATAATAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATATAATATATGTAAATATACATGTATATTTATTCATATATAAATATAT GTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACAT GTAATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATAGA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(427): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATATTTAAATATATAAAATACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02132.hp1 HG02155.hp2 others(5): Show HG00735.hp1 HG02132.hp1 HG02155.hp2 HG03516.hp1 HG03704.hp1 NA18952.hp2 NA18983.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 a0001c0001t0044 a0001c0008t0003	a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0003g0010 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0003g0010 a0001c0001t0005g0024 a0001c0001t0010g0055 a0001c0001t0024g0059 a0001c0001t0044g0017 a0001c0008t0003g0065	8	107	0.0748	434	c.132 others(453): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849139	C C	CACTGTTT others(427): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTT ATATATTTAAATATATAAAATATACTGTTTTATATATTTAAATATATAAA ATACACTGTTTTATATATTTAAATATATAAAATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0016 a0001c0003t0026g0016	1	97	0.0103	434	c.132 others(451): Show c.1328+616_1328+617insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTATATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAA AACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(427): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCAGGAGCGGGTGAGGG GCGGGGGAGGGCCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGG GCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCGG GGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTG GGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGGAGGGGGAGGGGA GAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	6	0.1667	434	c.-39 others(443): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCC AGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCC CCTCACCCGCTCCTGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCCAG CCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCCG CTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCCC TCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(427): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCAGGAGCGGGTGAGGG GCGGGGGAGGGCCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGG GCGGGGCTGGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCG GGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGCT GGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGGA GAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	6	0.1667	434	c.-39 others(443): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCCAGCCCCGCC CCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCC CCTCACCCGCTCCTGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCCAG CCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCCG CTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCCC TCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(427): Show CAAAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGCTGGGTACCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	44	0.0227	434	c.-31 others(445): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCAGCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(427): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAATTAGCCTGGTGTGGTGG TGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTA TCTACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGC CAGCATGGGCAATATGGTAAGACCCTATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0067 a0002c0031t0001g0067	1	104	0.0096	434	c.-37 others(445): Show c.-3713_-3712insGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTGT AGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGC TCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCAC CCACCACCACGCCCGGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAG ATAATGGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTC AAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCC ACCACCACACCAGGCTAATTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(427): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0092 a0002c0008t0006g0092	1	207	0.0048	434	c.41- others(449): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IGSF9B_chr11_133891438_133961968	133932437	G G	GGAAGCCA others(427): Show GGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0056 a0001c0001t0101g0056	1	360	0.0028	434	c.968 others(449): Show c.968-225_968-224insTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGTCTGCTCTCCCACCTGG CTTC	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(427): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGG GAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0202 a0001c0004t0011g0202	1	100	0.0100	434	c.623 others(451): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGG AGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGGAGG CGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(427): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	150	0.0067	434	c.-67 others(453): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(427): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATG GATATATATATATCCATATATATCTATCCATATATATATCCATATATATC TATCCATATATATATCCATATATCTATCCATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	157	0.0064	434	c.126 others(451): Show c.126-1732_126-1731insGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATGGATAGATATATGGATATATAT ATGGATAGATATATATGGATATATATATGGATAGATATATATGGATATAT ATATATCCATATATATGGATATATATATATGGATATATATATGGATATAT ATATATGGATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATATGGATATATATATGGATATATATATATGGAT ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar

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