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
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(360): Show GGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0305 a0004c0006t0001g0305	1	338	0.0030	367	c.300 others(384): Show c.300-9363_300-9362insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	53991045	G G	GCCCAGCC others(360): Show GCCCAGCCCCTCCTTCCTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	430	0.0023	367	c.-18 others(378): Show c.-1833_-1832insCCCAGCCCCTCCTTCCTCAGACCCAGGAGTTCAG GCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCT CCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		591		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCAGCC others(360): Show GCCCAGCCCCTCCTTCCTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0017 a0001c0001t0083g0017	1	394	0.0025	367	c.81 others(378): Show c.8196_*8197insCCCAGCCCCTCCTTCCTCAGACCCAGGAGTTCAG GCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCT CCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(360): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	386	0.0026	367	c.803 others(381): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAGAGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(360): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACAACATGCATACATATACACATGCACACAATGTACACACA TGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	284	0.0035	367	c.380 others(384): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTTGTGTGTGCATGTGTGCGTGCA TGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGT GTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTG TGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTAT GCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTG TATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGT GTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(360): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0019 a0013c0014t0001g0019	1	252	0.0040	367	c.-29 others(378): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC77_chr12_396644_447642	419832	T T	TACACATA others(360): Show TACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0389 a0002c0002t0001g0389	1	432	0.0023	367	c.413 others(384): Show c.413+1210_413+1211insCCTCCATGCTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTC CATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATG CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421308	T T	TACACACA others(360): Show TACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	432	0.0023	367	c.413 others(384): Show c.413+2688_413+2689insCCTCCATGCTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(360): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	300	0.0033	367	c.456 others(384): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAATCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(360): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0045 a0008c0012t0001g0045	1	440	0.0023	367	c.12 others(378): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(360): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0279 a0003c0003t0003g0279	1	358	0.0028	367	c.96+ others(380): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(360): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCCTTCTTCCCTCCCCCCTTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0014 a0003c0004t0001g0014	1	354	0.0028	367	c.69 others(378): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCCTTCTTCCCTCCCCCCTTCCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT TCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(360): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT GCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTC ATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCT TCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTT TCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	236	0.0042	367	c.321 others(386): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCT TCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTC CTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCC TTCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320376	T T	TATATATT others(360): Show TATATATTATATATGTAATATAATATATGTAATATATATTATATATGTAA TATATAATATATGTAATATATATTATATATATTATATATATTATATATGT AATATATATTATATATATTATATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATTACATATGTAATATATATATT ATATATTATATATATATTATATATATTATATTATATATATTATATATAAT ATATAATATATATATTATATATATTATATATTACATATAATATATATGTA ATATATTACATATATTATATATGTAATATATTACATATATTATATATGTA ATATATATTATATATGTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0003 a0012c0018t0003	a0012c0018t0003g0122 a0012c0018t0003g0122	1	236	0.0042	367	c.342 others(388): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATAATATATGTAATATATATTATATATA TTATATATATTATATATGTAATATATATTATATATATTATATATATTATA TATGCAATATATATTATATATATTATATATGCAATATATATTATATATTA CATATGTAATATATATATTATATATTATATATATATTATATATATTATAT TATATATATTATATATAATATATAATATATATATTATATATATTATATAT TACATATAATATATATGTAATATATTACATATATTATATATGTAATATAT TACATATATTATATATGTAATATATATTATATATGTAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CMKLR2_chr2_206170316_206218371	206172629	C C	CGGGAGAG others(360): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAG AGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGG AGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGG AGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGG GAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAG GGAGAGGGAGACGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	322	0.0031	367	c.35 others(378): Show c.3550_*3551insTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCG TCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2686		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(360): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAAGGAAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0080 a0003c0080	a0003c0080t0001 a0003c0080t0001	a0003c0080t0001g0208 a0003c0080t0001g0208	1	344	0.0029	367	c.85- others(384): Show c.85-12935_85-12934insTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTTCCTTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255903	A A	AGGGGGAA others(360): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0342 a0002c0026t0004g0342	1	344	0.0029	367	c.85- others(384): Show c.85-13170_85-13169insCTCCCTTCCTGCCTTCCCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825110	A A	AGAGGCTG others(360): Show AGAGGCTGGGCTCCGGCGGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGGCTGGGCTCCGGCGGAGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGGAGGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGTGGGGAG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	412	0.0024	367	c.630 others(380): Show c.630+90_630+91insAGGCTGGGCTCCGGCGGGGAGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGGCTGGG CTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTC CGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG GCGGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF2RA_chrX_1263814_1314935	1302892	G G	GACAGGGT others(360): Show GACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCG GCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGATTACATTAGACATGCATCACGCTTGGCCAATTT TTGTATTTTTATTTTTATTTATTTATTTATTTATTTTGAGATGGAGTTTC GCTGTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAA CCTCCGTCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAG CTGGGATTACAGACATGCATCATGCTTGGCCATTTTTTAAATATTTTTAT TTATTTATTTATTTTGAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	159	0.0063	367	c.947 others(382): Show c.947-991_947-990insGCGATCTCGGCTCACTGCAACCTCCGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC ATTAGACATGCATCACGCTTGGCCAATTTTTGTATTTTTATTTTTATTTA TTTATTTATTTATTTTGAGATGGAGTTTCGCTGTGTCACCCAGGCTGGAG TGCAATGGCACGATCTTGGCTCACTGCAACCTCCGTCTCCCAGGCTCAAG CGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACATGCATC ATGCTTGGCCATTTTTTAAATATTTTTATTTATTTATTTATTTTGACACA GGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DECR2_chr16_396885_417482	397653	G G	GGGGTGGG others(360): Show GGGGTGGGGAGGTGGGGGGTGTGGGCGGGGGTGAGGGGAGTCGGGGGGTG GGGGTGGGGGCTGTGGGGGGGTGAGGGAGTCGGGGAGGTGGGGTGGGGGG GTGAGGGAGTCCGGGAGGCTGGGGGTGGGCGGGTGAGGAGCGGGAGTTGG GGGGGGGGAGTGGTGGGGGGGGGGGTGGGGGGGGGTGGGAGTCGGGTGGA GGGTGGGGGTGGGGGGGTGAGGAGTCGGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGGT GGGGGGGGTGAGGGAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	367	0.0027	367	c.-43 others(378): Show c.-4311_-4310insGGGTGGGGAGGTGGGGGGTGTGGGCGGGGGTGAG GGGAGTCGGGGGGTGGGGGTGGGGGCTGTGGGGGGGTGAGGGAGTCGGGG AGGTGGGGTGGGGGGGTGAGGGAGTCCGGGAGGCTGGGGGTGGGCGGGTG AGGAGCGGGAGTTGGGGGGGGGGAGTGGTGGGGGGGGGGGTGGGGGGGGG TGGGAGTCGGGTGGAGGGTGGGGGTGGGGGGGTGAGGAGTCGGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGGTCGGGGGGTGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4231		chr16	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(360): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACAGATTATGATATATAATATATAATTATATATTATATACATA TGATATACATATATTATATACATATAATATATACATATATTATATACATA TAATATATACATATATTATATACATATAATATATACATATACTATATACA TATAATATATACATATACTATATACATATAATATATACATATATTATATA CATATAATATATACATATATTATATACATATAATATATACATATATTATA TACATATAATATATACATATATTATATACATATAATATATACATATATTA TATACATATAATATATAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0006 a0002c0004t0010g0006	1	280	0.0036	367	c.126 others(384): Show c.126+1125_126+1126insGTATATATTATATGTATATAATATATGT ATATATTATATGTATATAATATATGTATATATTATATGTATATAATATAT GTATATATTATATGTATATAATATATGTATATATTATATGTATATAATAT ATGTATATATTATATGTATATAGTATATGTATATATTATATGTATATAGT ATATGTATATATTATATGTATATAATATATGTATATATTATATGTATATA ATATATGTATATATTATATGTATATAATATATGTATATCATATGTATATA ATATATAATTATATATTATATATCATAATCTGTAATATATAATTATATAT TACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(360): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATACATA TGATATACATATATTATATACATATAATATATACATATATTATATACATA TAATATATACATATATTATATACATATAATATATACATATATTATATACA TATAATATATACATATATTATATACATATAATATATACATATATTATATA CATATAATATATACATATATTATATACATATAATATATACATATATTATA TACATATAATATATACATATATTATATACATATAATATATACATATATTA TATACATATAATATATAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19006.hp1 NA18945.hp2 NA19006.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0004 a0002c0004t0010g0007 a0002c0004t0010g0004 a0002c0004t0010g0007	2	280	0.0071	367	c.126 others(384): Show c.126+1125_126+1126insGTATATATTATATGTATATAATATATGT ATATATTATATGTATATAATATATGTATATATTATATGTATATAATATAT GTATATATTATATGTATATAATATATGTATATATTATATGTATATAATAT ATGTATATATTATATGTATATAATATATGTATATATTATATGTATATAAT ATATGTATATATTATATGTATATAATATATGTATATATTATATGTATATA ATATATGTATATATTATATGTATATAATATATGTATATCATATGTATATA ATATATAATTATATATTATATATCATAATATGTAATATATAATTATATAT TACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DPEP1_chr16_89608642_89643433	89634589	T T	TCCTTTCC others(360): Show TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCATTCC TTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCT TCTCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	250	0.0040	367	c.105 others(384): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CATTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(360): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATAG TGTATATATATAGTATATATATAGTATATATATAGTATATATAGTATATA TGTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0089 a0001c0002t0004g0089	1	316	0.0032	367	c.355 others(386): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATAT ATAGTATATATATAGTGTATATATATAGTATATATATAGTATATATATAG TATATATAGTATATATGTATATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109326	T T	TCCCTCCC others(360): Show TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTTCCTC TCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0158 a0012c0015t0003g0158	1	404	0.0025	367	c.197 others(384): Show c.1977-703_1977-702insCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTTCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCC CCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(360): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	370	0.0027	367	c.39 others(378): Show c.3959_*3960insTCTCCCTCTCGTCTCCCTCTCCCTCTCCCCGTCT CCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCT CTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCC CCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCC TCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTC CCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(360): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCGCCCACCCCCCTCCCGCCC CCCTCCAGCCTACCCCTCCCCCGCCCACCCCTCCTCCCGCCTCCCCCCCA GCCTACCCCCTCCCCCCGCCCACCCACTTCCTCCGCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGC CCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	406	0.0025	367	c.33 others(378): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCGCCC ACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCGCCCACCCCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTTCCTCCG CCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCC TACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(360): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGAGTGTG GGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGGGGGTGA GCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGTGGGGTG GGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAG AGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTGGGGTGGGGTGT GTGAATGTGTGGGGTGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTG TCAGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0088 a0001c0002t0088	a0001c0002t0088g0309 a0001c0002t0088g0309	1	330	0.0030	367	c.-10 others(384): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCCCACC CCACACCCTCCCACACTCACATTCACCCCCACCCCACACTCTCCCACAGT CACACTCACCCCCACCCCACACCCTCCCATGCTCTCACCCCACCCCACAC CCTCCCACACTCACACCCCCACACCCTCCCACACTCATGCTCACCCCCAC CCCACACCCTCCCACACACTCACCCCACCCCACACCCTCCCACACTCACA CCCCCACCCCACACCCTCCCACACTCACGCTCACCCCCTACCCCACACCC AGACACACACCCACACACACCCATACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GOLGA8M_chr15_28693583_28717421	28713441	T T	TAAAAAAT others(360): Show TAAAAAATAGATTTTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	441	0.0023	367	c.-11 others(378): Show c.-1119_-1118insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAA CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTCGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTTAAAATCTATTTTTT	GOLGA8M	ENSG00000188626.7	transcript	ENST00000563027.2	protein_coding		1021		chr15	TogoVar
GRAMD4_chr22_46615386_46684785	46635454	G G	GACCGTGT others(360): Show GACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCC GTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTC CCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCTG CCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCC CCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCGCCCCCGG CCACTCCTGTCCTGGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	328	0.0031	367	c.163 others(384): Show c.163-2386_163-2385insACCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCC TGGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGG GGACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGAC CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTG TCCTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(360): Show TAGTAACTATATTAATAATATAGTTAGTATATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0177 a0006c0006t0002g0177	1	268	0.0037	367	c.-28 others(378): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTTAGTATATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(360): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0016 a0001c0009t0016	a0001c0009t0016g0266 a0001c0009t0016g0266	1	270	0.0037	367	c.178 others(386): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
IFNAR1_chr21_33319970_33364864	33323235	T T	TGTGTATA others(360): Show TGTGTATATATGGAATATATAGATGGAATGTATATATATGGAATATATAG ATGGAATGTATATATATGGAATATATAGATGGAATGTATATATATGGAAT GTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATA TGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTA TATATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGG AATGTATATATGGAATGTATAGATGGAATGTATATATGGAATGTATAGAT GGAATGTATATATGGAATGTATATATGGAATGTATATATGGAATGTATAT ATGGAATGTATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0101 a0001c0001t0018g0101	1	323	0.0031	367	c.-18 others(378): Show c.-1821_-1820insGTGTATATATGGAATATATAGATGGAATGTATAT ATATGGAATATATAGATGGAATGTATATATATGGAATATATAGATGGAAT GTATATATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGA TGGAATGTATATATATGGAATGTATAGATGGAATGTATATATATGGAATG TATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATAT GGAATGTATAGATGGAATGTATATATGGAATGTATAGATGGAATGTATAT ATGGAATGTATAGATGGAATGTATATATGGAATGTATATATGGAATGTAT ATATGGAATGTATATATGGAATGTATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1734		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(360): Show TATAATATATTTTATATATTATATATTATATATCATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATATATAATGTATAATAACATTATATATTATATATTATACA TATATTATATGTAATATATAATATATAATATATAATATATATTATGTATA ATATATATTATATTATATATAATATATAATATATATAATATATAATATAT TATATATAATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18993.hp2 NA19086.hp1 NA18991.hp1 NA18993.hp2 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0002	3	366	0.0082	367	c.-36 others(378): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATCA TATAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATATATAATATATAATGTATAATAACATTATAT ATTATATATTATACATATATTATATGTAATATATAATATATAATATATAA TATATATTATGTATAATATATATTATATTATATATAATATATAATATATA TAATATATAATATATTATATATAATATATAATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(360): Show TATAATATATTTTATATATTATATATTATATATCATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATATATAATGTATAATAACATTATATATTATATATTATACA TATATTATATGTAATATATAATATATAATATATAATATATATTATGTATA ATATATATTATATTATATATAATATATAATATATATAATATATAATATAT TATATATAATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18993.hp2 NA18991.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0153 a0001c0001t0001g0001 a0001c0001t0001g0153	2	348	0.0058	367	c.84 others(376): Show c.847_*848insATAATATATTTTATATATTATATATTATATATCATA TAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATATATAATATATAATGTATAATAACATTATATAT TATATATTATACATATATTATATGTAATATATAATATATAATATATAATA TATATTATGTATAATATATATTATATTATATATAATATATAATATATATA ATATATAATATATTATATATAATATATAATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(360): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAG GGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02148.hp2 HG02735.hp1 others(3): Show HG01167.hp1 HG02148.hp2 HG02735.hp1 HG02738.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0061 others(3): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0061 a0001c0001t0002g0074 a0001c0001t0005g0008 a0001c0001t0005g0009	6	282	0.0213	367	c.290 others(386): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTT CCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCT TCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(360): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCG CAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00642.hp1 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0060 a0002c0002t0001g0061	2	312	0.0064	367	c.-41 others(382): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCC GCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(360): Show TTAATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATA TGCATATATTTATATATAAAATATATACATATATGTATATATATAAAATA TATACATATATGTATATATATAAAATATATACATATATGTATATATATAA AATATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	164	0.0061	367	c.211 others(388): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGTATATATTTTATATATATACATATATGTATATATTTT ATATATATACATATATGTATATATTTTATATATAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTAAATATATGCATATATTTATGTATT AAATATATGCATATATTAAATATATGCATATATTTATGTATTAAATATAT GCATATATTTATGCATTAAATATATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(360): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATACTATAT AAAATATATATTATATATAAAATATATACTATATATAAAATATATATTAT ATATAAAATATATACTATATATAAAATATATAATATATATAATATATATA TTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01167.hp1 others(4): Show HG00738.hp1 HG01071.hp1 HG01167.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0030	a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0005g0038 others(4): Show a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0005g0038 a0001c0001t0005g0079 a0001c0001t0005g0087 a0001c0001t0021g0039 a0001c0001t0030g0107	7	260	0.0269	367	c.963 others(386): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATACTATATAAAATATATATTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATATAATATA TATAATATATATATTATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(360): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATAAAATATATATTATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATAATATATATAAAATATATA CTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG03017.hp2 others(4): Show HG01167.hp2 HG02809.hp2 HG03017.hp2 HG03195.hp1 HG03927.hp1 NA18987.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0049	a0001c0001t0001g0175 a0001c0001t0001g0254 a0001c0001t0001g0257 others(4): Show a0001c0001t0001g0175 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0002g0176 a0001c0001t0002g0201 a0001c0001t0004g0256 a0001c0001t0049g0255	7	260	0.0269	367	c.963 others(386): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(360): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATTATATATAAAATATATACTATATATAAAATATATATTAT ATATAAAATATATACTATATATAAAATATATAATATATATAATATATATA TTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 NA18906.hp1 HG01884.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0063 a0001c0001t0014 a0001c0001t0018 a0001c0001t0063	a0001c0001t0014g0153 a0001c0001t0018g0136 a0001c0001t0063g0138 a0001c0001t0014g0153 a0001c0001t0018g0136 a0001c0001t0063g0138	3	260	0.0115	367	c.963 others(386): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATATAATATA TATAATATATATATTATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KREMEN1_chr22_29068035_29151820	29120082	A A	AACAGGGA others(360): Show AACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGACGG AGAGGTGATGATGGAAAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0314 a0001c0001t0005g0314	1	368	0.0027	367	c.353 others(384): Show c.353-1274_353-1273insCAGGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG ATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAG AGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATG GAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAG GAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGAAGGAAATGGAGGACGGAGAGGTGATGATGGAAACA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124471627	T T	TATTTATA others(360): Show TATTTATATATATTTATATATATATTTTTATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATATA TTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATA TATAGTTATATATATTTATATATAGTTATGTATAGTTATATATAGTTATA TATATAGTTATATATAGTTATATATATAGTTATATATATATATTTTTATA TATATATTTATATATATTTATATATATTTATATATATTTATATATATATT TATATATTTATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG01433.hp1 others(5): Show HG00140.hp2 HG01192.hp2 HG01433.hp1 HG01943.hp2 HG01981.hp1 HG03704.hp1 NA18980.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0196 a0002c0002t0001g0014 a0002c0002t0001g0078 others(5): Show a0001c0001t0001g0196 a0002c0002t0001g0014 a0002c0002t0001g0078 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0129 a0002c0002t0001g0251 a0002c0002t0003g0030	8	260	0.0308	367	c.125 others(384): Show c.125+9640_125+9641insATTTATATATATTTATATATATATTTTT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATAGTTATATATATTTATATATAGTTATATATATTTATATATAGTTAT GTATAGTTATATATAGTTATATATATAGTTATATATAGTTATATATATAG TTATATATATATATTTTTATATATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATTTATATATGTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507071	C C	CAGGATTT others(360): Show CAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGC AGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGATAGGGA AGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAG GATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0155 a0001c0001t0001g0158	2	260	0.0077	367	c.624 others(384): Show c.624+8955_624+8956insCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGG GGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507402	G G	GGGGGGGT others(360): Show GGGGGGGTAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGG GGTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	260	0.0039	367	c.624 others(384): Show c.624+9277_624+9278insGGGTAGGCAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGAC AGGATTTCAGGTGGGGGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGAC AGGATTTCAGGTGGGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGCG others(360): Show CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA18945.hp1 HG01099.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0055 a0001c0001t0002 a0001c0001t0055	a0001c0001t0002g0001 a0001c0001t0055g0001 a0001c0001t0002g0001 a0001c0001t0055g0001	2	414	0.0048	367	c.-43 others(378): Show c.-4362_-4361insGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364825	T T	TCTACCTC others(360): Show TCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACC CACACTTACACCCACGCTTACATCTACCTGCACACCCACACTTACACCCA CGCTTACATCTACCTGCACACCCACACTTACACCCACGCTTACATCTACC TGCACACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACT TACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACGCTTA CATCTACCTCCACACCCACACTTAACACCCACGCTTACATCTACCTGCAC ACCCACGCTTACACCCACGTCCACACCGTGGGGCCCCACACTCATGCAGT CCGCGTCCACGCTTACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0086 a0001c0003t0007g0086	1	290	0.0035	367	c.129 others(384): Show c.1290-589_1290-588insACCCACACTCACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTGCACACCCAC ACTTACACCCACGCTTACATCTACCTGCACACCCACACTTACACCCACGC TTACATCTACCTGCACACCCACACTTACACCCACGCTTACATCTACCTCC ACGCCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCACACTTAACACCCACGCTTACA TCTACCTGCACACCCACGCTTACACCCACGTCCACACCGTGGGGCCCCAC ACTCATGCAGTCCGCGTCCACGCTTACACCTACCTCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186561	G G	GGAGGAAC others(360): Show GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	350	0.0029	367	c.26 others(378): Show c.2636_*2637insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2428		chr16	TogoVar
MARCHF1_chr4_163519718_164389019	164310576	A A	ACGAAAAT others(360): Show ACGAAAATGTGTGTTTTTTTTTTTTTTCTTTTTTAATTATTATTATTATT ATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA TGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAG CATTAGGTATATCTGCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACC ACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATT GTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTC TTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTA CAAAGGACATGAACTCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02293.hp2 HG02559.hp2 others(3): Show HG02258.hp1 HG02293.hp2 HG02559.hp2 HG02723.hp2 NA18906.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0007 a0001c0002t0002 a0001c0002t0027 others(2): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0027 a0001c0005t0016 a0002c0004t0029	a0001c0001t0007g0049 a0001c0002t0002g0023 a0001c0002t0002g0080 others(3): Show a0001c0001t0007g0049 a0001c0002t0002g0023 a0001c0002t0002g0080 a0001c0002t0027g0046 a0001c0005t0016g0048 a0002c0004t0029g0047	6	102	0.0588	367	c.-32 others(388): Show c.-323+73293_-323+73294insATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTGGGGGGAGGGGGGAGGGATAGCATTGGCAGATATACCTAATGCTAGAT GACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAT AATAATAATTAAAAAAGAAAAAAAAAAAAAACACACATTTTCG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MEGF6_chr1_3482951_3616508	3587857	C C	CAGGAGGG others(360): Show CAGGAGGGGACAGGAGTGGCCAGGAGGGGACAGGAGTGGCTAGGAGGAGA CAGGACCGGCCAGGAGTGGCCAGGAGTGGACAGGAGGAGACAGGAGGGGA CAGGAGTGGATAGGAGGAGATAGGAGGGGACAGGAGTGGACAGAAGGAGA CAGGAGGGGACAGGAGTGGACAGGAGTGGACAGGAGACAGGAGGGGACAG GAATGGCCAAGAGGGGACAGGAGTGGCCAGGAGGGGGCAGAAGTGGCCAG GAGTGGGCAGGAGGGGGCAGGACAGGCCAGGAGGAGGCAGGAGGGGGCAG GAGGGGACAGGAGGGGGCAGGAGGGGACAGGAGGGGGCAGGAGTGGCCAG GAGGGGGCAGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02818.hp1 HG02886.hp1 others(4): Show HG00642.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03225.hp2 NA19030.hp1 NA19030.hp2	a0003 a0008 a0015 others(4): Show a0003 a0008 a0015 a0035 a0072 a0083 a0094	a0003c0114 a0008c0108 a0015c0013 others(4): Show a0003c0114 a0008c0108 a0015c0013 a0035c0065 a0072c0073 a0083c0074 a0094c0070	a0003c0114t0001 a0008c0108t0023 a0015c0013t0020 others(4): Show a0003c0114t0001 a0008c0108t0023 a0015c0013t0020 a0035c0065t0043 a0072c0073t0031 a0083c0074t0008 a0094c0070t0029	a0003c0114t0001g0255 a0008c0108t0023g0003 a0015c0013t0020g0289 others(4): Show a0003c0114t0001g0255 a0008c0108t0023g0003 a0015c0013t0020g0289 a0035c0065t0043g0108 a0072c0073t0031g0290 a0083c0074t0008g0240 a0094c0070t0029g0291	7	292	0.0240	367	c.376 others(384): Show c.376+7480_376+7481insTTCCCCTCCTGCCCCCTCCTGGCCACTC CTGCCCCCTCCTGTCCCCTCCTGCCCCCTCCTGTCCCCTCCTGCCCCCTC CTGCCTCCTCCTGGCCTGTCCTGCCCCCTCCTGCCCACTCCTGGCCACTT CTGCCCCCTCCTGGCCACTCCTGTCCCCTCTTGGCCATTCCTGTCCCCTC CTGTCTCCTGTCCACTCCTGTCCACTCCTGTCCCCTCCTGTCTCCTTCTG TCCACTCCTGTCCCCTCCTATCTCCTCCTATCCACTCCTGTCCCCTCCTG TCTCCTCCTGTCCACTCCTGGCCACTCCTGGCCGGTCCTGTCTCCTCCTA GCCACTCCTGTCCCCTCCTGGCCACTCCTGTCCCCTCCT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar

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