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
CANT1_chr17_78986716_79014764	79004465	G G	GGAGGGGG others(277): Show GGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGG GGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGAGGGGAGTTA GGGAGAGGAGTTGGGGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGT TAGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGG AGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAG TTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01346.hp2 HG01074.hp2 HG01099.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0169 a0001c0001t0001g0039 a0001c0001t0001g0169	3	394	0.0076	284	c.-14 others(303): Show c.-147+5198_-147+5199insTCCCTAACTCCCCTCCCTAACTCCCC TCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCT AACTCCCCTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACTCCC CCCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCCCAAC TCCTCTCCCTAACTCCCCTCTCCCTAACTCCCCTCTCCTTAACTCCTCTC CCTAACTCCCCCCTCCCTAACTCCCCTCTCCTTAACTCCTCTCCCTAACT CCCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(277): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	454	0.0022	284	c.626 others(299): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATAGAGAT TGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(277): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATATATACTCATATATATATATACTCATATATATATATATACT CATATATATATATACTCATATATATATATACTCATATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATATA TATATACTCATATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01261.hp2 HG03490.hp1 others(1): Show HG00733.hp1 HG01261.hp2 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0003 a0002c0002t0016	a0002c0002t0003g0107 a0002c0002t0003g0109 a0002c0002t0003g0110 others(1): Show a0002c0002t0003g0107 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0016g0108	4	370	0.0108	284	c.232 others(305): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATATATACTCATATATATATATACTCATATATATATATA TACTCATATATATATATACTCATATATATATATACTCATATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TATATATATACTCATATATATATATATATATATATACTCATATATATATA TATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(277): Show CCTTCCTTCCTTCCTTCCTTCCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	424	0.0024	284	c.774 others(299): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(277): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	442	0.0023	284	c.27 others(295): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(277): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACA CACATATATGTGTGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	442	0.0023	284	c.27 others(295): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATGTGTGT GTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(277): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATGCATACACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	442	0.0023	284	c.27 others(295): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATGCATACACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDH4_chr20_61247261_61945617	61282945	G G	GTGTGTGA others(277): Show GTGTGTGATGTACGTGCATTTGCACGCGTGTGCTGTGGCGTGTGTGATGT ACGTGCGTTTGCACGCGTGTGCTGTGGCGTGTGTGATGTACGTGCGTTTG CACGCGTGTGCTGTGGCGTGTGATGTACGTGCGTTTGCACGCGCGTGCTG TGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTG ATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGGCGTGT GTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0100 a0002c0005t0007g0100	1	106	0.0094	284	c.169 others(303): Show c.169+28008_169+28009insTGTGTGATGTACGTGCATTTGCACGC GTGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGTGTGCTGTGG CGTGTGTGATGTACGTGCGTTTGCACGCGTGTGCTGTGGCGTGTGATGTA CGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGC ACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCT GTGGCGTGTGTGATGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGT GCTGTGGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61383629	A A	ATCTATAT others(277): Show ATCTATATATGATATATATGAATATATGAATATATGATACGTATGAATAT ATATGATATATATGGATATATGATACGTATGAATATATATCATATATGTA TATATGATATGATATATATATGAATATATGATATATATGAACATATATAT GGATATTATGAATATATATGATATATATGAATATATATGATATATGAATA TATATGGATATATATGAATATATATGATTGATATATATCATATATGTATG CATATATGTGATATATATCATATATGAATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG04204.hp2 HG02895.hp2 HG02922.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0002c0009 a0001c0007 a0002c0004 a0002c0009	a0001c0007t0010 a0002c0004t0033 a0002c0009t0034 a0001c0007t0010 a0002c0004t0033 a0002c0009t0034	a0001c0007t0010g0018 a0002c0004t0033g0095 a0002c0009t0034g0009 a0001c0007t0010g0018 a0002c0004t0033g0095 a0002c0009t0034g0009	3	106	0.0283	284	c.169 others(305): Show c.169+128694_169+128695insTATATATGATATATATGAATATAT GAATATATGATACGTATGAATATATATGATATATATGGATATATGATACG TATGAATATATATCATATATGTATATATGATATGATATATATATGAATAT ATGATATATATGAACATATATATGGATATTATGAATATATATGATATATA TGAATATATATGATATATGAATATATATGGATATATATGAATATATATGA TTGATATATATCATATATGTATGCATATATGTGATATATATCATATATGA ATATATATTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CTCTCCTT others(277): Show CTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTT CTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTT CTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCTT CCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTCC TTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCCT TCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	236	0.0042	284	c.321 others(303): Show c.3217-2051_3217-2050insTCTCCTTCCTTCCCTTCCTTCCTTCT CTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCT CTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCTTTC TTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCT CCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCCTTCCTTT CTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCCATC TTTCCTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356977	T T	TGTGAGTG others(277): Show TGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTG GAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGG AAGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGATGGTCACACTGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0070 a0003c0005t0002g0070	1	236	0.0042	284	c.351 others(303): Show c.3514-3232_3514-3231insTGAGTGAGGAGGTAGTCACACTGAGG GGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAG TCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTC ACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(277): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGCCGGCCATTCAGAAGGGAGCA GAAAGGGGCTCTTGGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	254	0.0039	284	c.131 others(303): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GCCGGCCATTCAGAAGGGAGCAGAAAGGGGCTCTTGGACAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(277): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACACG TATATATACTCATATACATGTGTATATATACGTGTATATATACTCATATA CATGTGTATATATACGTGTATATATACTCATATACATGTGTATATATACG TGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	372	0.0027	284	c.894 others(299): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACGTGTATATATACACATGTATATGAGTATATAT ACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATACAC ATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTATAT ATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNTNAP5_chr2_124020287_124926219	124860414	C C	CCCTTCCT others(277): Show CCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	64	0.0156	284	c.321 others(303): Show c.3218-4883_3218-4882insTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45500881	T T	TGTTGGGT others(277): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0012 a0012	a0012c0092 a0012c0092	a0012c0092t0002 a0012c0092t0002	a0012c0092t0002g0006 a0012c0092t0002g0006	1	292	0.0034	284	c.268 others(303): Show c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CORO2B_chr15_68573993_68732806	68700380	C C	CAAAACAT others(277): Show CAAAACATTCAGAGGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCAGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02647.hp1 others(5): Show HG02145.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021	a0001c0001t0001g0132 a0001c0001t0001g0228 a0001c0001t0002g0080 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0228 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0195 a0001c0001t0006g0053 a0001c0001t0010g0252 a0001c0001t0021g0033	8	256	0.0313	284	c.333 others(301): Show c.333+5138_333+5139insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAAAAACATT CAGAGG	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(277): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCAT CACGCCCGGCTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTGCA GTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCA CGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	388	0.0026	284	c.-16 others(295): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGAGAGCCATCACGCCCGGCTTTTTTTTTTTTTTCTCTCTGTGGC CCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACA CAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(277): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCAGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp1 HG03017.hp1 others(10): Show HG00558.hp1 HG02015.hp1 HG03017.hp1 NA18950.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18979.hp1 NA18998.hp2 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0207 others(8): Show a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0001 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0276	13	386	0.0337	284	c.-27 others(305): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCAGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(277): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG03209.hp2 HG01243.hp1 HG01884.hp1 HG03209.hp2	a0006 a0007 a0006 a0007	a0006c0008 a0007c0009 a0006c0008 a0007c0009	a0006c0008t0001 a0007c0009t0001 a0006c0008t0001 a0007c0009t0001	a0006c0008t0001g0150 a0007c0009t0001g0011 a0007c0009t0001g0012 a0006c0008t0001g0150 a0007c0009t0001g0011 a0007c0009t0001g0012	3	386	0.0078	284	c.-27 others(305): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(277): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGC AGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGC AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA20300.hp2 NA18955.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0007 a0001c0001t0004 a0002c0003t0007	a0001c0001t0004g0361 a0002c0003t0007g0005 a0001c0001t0004g0361 a0002c0003t0007g0005	2	380	0.0053	284	c.121 others(301): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCG CCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCC TGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGC TGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCC GCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCAF7_chr17_63545477_63599266	63547442	G G	GAAAAGGA others(277): Show GAAAAGGAGGACATAATTTCAACCTAGATGGTCTGGCTTTGAGAGCATGT GCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAAGAACTACCTGGTTAT TGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAAGAATTTCGAATATGT ATATCCCCCTCATACATTTTTAAGTTGACATCTGAAATATTATAAAATAC TTCAATGATACATTTAAATAGATGCAAAGGATATAATCTCAAGTGTCTTA TAAATATTGACACTTTATAAAACAATTCCATCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0200 a0001c0001t0032g0200	1	262	0.0038	284	c.-32 others(295): Show c.-3236_-3235insAAAAGGAGGACATAATTTCAACCTAGATGGTCTG GCTTTGAGAGCATGTGCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAA GAACTACCTGGTTATTGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAA GAATTTCGAATATGTATATCCCCCTCATACATTTTTAAGTTGACATCTGA AATATTATAAAATACTTCAATGATACATTTAAATAGATGCAAAGGATATA ATCTCAAGTGTCTTATAAATATTGACACTTTATAAAACAATTCCATCCTT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding		3034		chr17	TogoVar
DCAF7_chr17_63545477_63599266	63547442	G G	GAAAAGGA others(277): Show GAAAAGGAGGACATAATTTCAACCTAGATGGTCTGGCTTTGAGAGCATGT GCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAAGAACTACCTGGTTAT TGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAAGAATTTCGAATATGT ATATCCCCCTCATACATTTTTAAGTTGACATCTGAAATATTATAAAATAC TTCAATGATACATTTAAATAGATGCAAAGGATATAATCTCAAGTGTCTTG TAAATATTGACACTTTATAAAACAATTCCATCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(232): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0006g0189 a0001c0001t0006g0210 a0001c0001t0006g0213 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0103 a0001c0001t0008g0012 a0001c0001t0009g0170 a0001c0001t0009g0224 a0001c0001t0010g0113 a0001c0001t0010g0192 a0001c0001t0011g0208 a0001c0001t0011g0212 a0001c0001t0012g0009 a0001c0001t0012g0035 a0001c0001t0013g0086 a0001c0001t0013g0228 a0001c0001t0014g0203 a0001c0001t0014g0205 a0001c0001t0015g0229 a0001c0001t0015g0235 a0001c0001t0016g0198 a0001c0001t0016g0199 a0001c0001t0017g0201 a0001c0001t0017g0202 a0001c0001t0018g0052 a0001c0001t0018g0074 a0001c0001t0019g0204 a0001c0001t0020g0179 a0001c0001t0021g0207 a0001c0001t0022g0217 a0001c0001t0023g0211 a0001c0001t0024g0077 a0001c0001t0025g0087 a0001c0001t0026g0106 a0001c0001t0027g0065 a0001c0001t0028g0183 a0001c0001t0029g0169 a0001c0001t0030g0194 a0001c0001t0031g0090 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0043 a0001c0003t0001g0184 a0001c0003t0001g0185 a0002c0004t0001g0038	260	262	0.9924	284	c.-32 others(295): Show c.-3236_-3235insAAAAGGAGGACATAATTTCAACCTAGATGGTCTG GCTTTGAGAGCATGTGCAATTAACCACTGCTGAAAAGGGCTGTTGTCCAA GAACTACCTGGTTATTGGTTTTCAGTCCTTTGCTCCAGTGTTCTGTAAAA GAATTTCGAATATGTATATCCCCCTCATACATTTTTAAGTTGACATCTGA AATATTATAAAATACTTCAATGATACATTTAAATAGATGCAAAGGATATA ATCTCAAGTGTCTTGTAAATATTGACACTTTATAAAACAATTCCATCCTT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding		3034		chr17	TogoVar
DCLK2_chr4_150073445_150262438	150251046	A A	AAATCCCC others(277): Show AAATCCCCCACACCCCCCACATCCCCCCACACCCCCACACACCCCCACAC CACACATCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCAC ACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCC CACACCCCCCACACCCCCCACATCCCCACACCACACATCCCTCACACCCC CCAAATCCCCCACACCCCCCACATCCCCACACCACACATCCCCCACACCC CCCACATCCCCCACACCCCCCACATCCCCCCACAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	116	0.0086	284	c.207 others(303): Show c.2073+1362_2073+1363insAATCCCCCACACCCCCCACATCCCCC CACACCCCCACACACCCCCACACCACACATCCCCCACACCCCCCAACACC CCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCCCCACAT CCCCCACACCCCCACACATCCCCCACACCCCCCACACCCCCCACATCCCC ACACCACACATCCCTCACACCCCCCAAATCCCCCACACCCCCCACATCCC CACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCC CCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DDX51_chr12_132131594_132149319	132135097	G G	GCTCCTCC others(277): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTG CCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCAC TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01256.hp1 HG01258.hp2 others(2): Show HG00099.hp2 HG01256.hp1 HG01258.hp2 NA20129.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	5	334	0.0150	284	c.41 others(295): Show c.4174_*4175insTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGTGGGCACCGTGGGCACACTCGGAGAGGTGGGAGGAGTGGGCACCGTGG GCACACTCGGGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGGAG GTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCA CCGTGGGCACACTCGGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1496		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(277): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	367	0.0027	284	c.-42 others(295): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGKB_chr7_14140049_14907751	14211296	A A	ATTTACTC others(277): Show ATTTACTCTCGTGTTTTGTGATTTTATTTACTCTCATGTTTTGTGATATT TACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTC GTGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTT GTGATATTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0138 a0001c0004t0026g0138	1	148	0.0068	284	c.212 others(305): Show c.2123-33146_2123-33145insATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACACGAGAGTAAATATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACACGAGA GTAAATATCACAAAACATGAGAGTAAATATCACAAAACACGAGAGTAAAA TCACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAA ACACGAGAGTAAATATCACAAAACATGAGAGTAAATAAAATCACAAAACA CGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DMD_chrX_31114222_33216549	33010062	A A	ATGTACAC others(277): Show ATGTACACATGTGTGTGTACATGTGTATGTACACATGTGTGTGTACATGT GTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACAT GTGTATGTACACATGTGTGTGTACATGTGTATGTACACATGTGTGTGTAC ATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGC ACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGT GCACATGTGTATGTACACATGTGTGTGCACATGTG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	284	c.93+ others(301): Show c.93+10076_93+10077insCACATGTGCACACACATGTGTACATACA CATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATA CACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACA TACACATGTACACACACATGTGTACATACACATGTACACACACATGTGTA CATACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTG TACATACACATGTACACACACATGTGTACATACACATGTACACACACATG TGTACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DOCK1_chr10_126900428_127457516	127362836	T T	TACACATG others(277): Show TACACATGCACGTCCCCACACACACACATACACATACACATCCCCCCACA CACACATACACATGTACATCTCCACACACACACATACACATCCCCACACA CACATACACATGCACGTCCCCCCACACACATACACATGCACATCCCCACA CACACACACACACACACACACATGCGCATCCCCACACACACACACATACA CATACACATCCCCCCACACACACGCACATCCCCACACACACGTACACATG CACATCCCCACACACACACATGCACCTCCCCCCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03098.hp1 HG01069.hp2 HG01071.hp1 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0003 a0001c0012 a0003c0003	a0001c0012t0002 a0003c0003t0003 a0001c0012t0002 a0003c0003t0003	a0001c0012t0002g0115 a0001c0012t0002g0116 a0003c0003t0003g0088 a0001c0012t0002g0115 a0001c0012t0002g0116 a0003c0003t0003g0088	3	136	0.0221	284	c.343 others(301): Show c.3432+629_3432+630insTGCACGTCCCCACACACACACATACACA TACACATCCCCCCACACACACATACACATGTACATCTCCACACACACACA TACACATCCCCACACACACATACACATGCACGTCCCCCCACACACATACA CATGCACATCCCCACACACACACACACACACACACACATGCGCATCCCCA CACACACACACATACACATACACATCCCCCCACACACACGCACATCCCCA CACACACGTACACATGCACATCCCCACACACACACATGCACCTCCCCCCA CACACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127362836	T T	TACACATG others(277): Show TACACATGCACGTCCCCACACACACACATACACATACACATCCCCCCACA CACACATACACATGTACATCTCCACACACACACATACACATCCCCACACA CACATACACATGCACGTCCCCCCACACACATACACATGCACATCCCCACA CACACACACACACACACACACATGCGCATCCCCACACACACACACATACA CATACACATCCCCCCACACACACGCACATCCCCACACACACGTACACATG CACATCCCCACACACACACATGCACCTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	136	0.0074	284	c.343 others(301): Show c.3432+629_3432+630insTGCACGTCCCCACACACACACATACACA TACACATCCCCCCACACACACATACACATGTACATCTCCACACACACACA TACACATCCCCACACACACATACACATGCACGTCCCCCCACACACATACA CATGCACATCCCCACACACACACACACACACACACACATGCGCATCCCCA CACACACACACATACACATACACATCCCCCCACACACACGCACATCCCCA CACACACGTACACATGCACATCCCCACACACACACATGCACCTCCCCCCC CACACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89634594	T T	TCCCTTCC others(277): Show TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	250	0.0040	284	c.105 others(301): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCCTTCC others(277): Show CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01256.hp2 others(12): Show HG01070.hp1 HG01071.hp1 HG01256.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02300.hp1 HG02630.hp2 NA18944.hp2 NA19084.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0016 others(1): Show a0001c0001 a0002c0002 a0005c0016 a0006c0015	a0001c0001t0001 a0002c0002t0001 a0005c0016t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0016t0001 a0006c0015t0001	a0001c0001t0001g0139 a0001c0001t0001g0180 a0002c0002t0001g0032 others(12): Show a0001c0001t0001g0139 a0001c0001t0001g0180 a0002c0002t0001g0032 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0131 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0193 a0002c0002t0001g0198 a0002c0002t0001g0206 a0005c0016t0001g0178 a0006c0015t0001g0181	15	250	0.0600	284	c.105 others(301): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(277): Show CCCCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	356	0.0028	284	c.-24 others(301): Show c.-248+507_-248+508insCCCCCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTR1_chr9_136396922_136415614	136403290	G G	GGGGTCCC others(277): Show GGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAG GGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGT TCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCC AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAAGAAAGGGACAGGGTTCCTG GGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGA GCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	412	0.0024	284	c.120 others(301): Show c.1209-404_1209-403insTGTCCCTTTCTCCCCCGGCAAACCCCAC CCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCC TTGCTCCCAGGAACCCTGTCCCTTTCTTCCCCCGGCAAACCCCACCCCTT GCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCT CCCTGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCC TGGGACCCTGTCCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCTG GGACCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ERC1_chr12_986223_1500931	1121741	A A	ATCTCTAT others(277): Show ATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAAATCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAAAT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GCCTATTGATATATCTGTATATATCTATCTAAATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0059 a0003c0004t0009g0059	1	162	0.0062	284	c.156 others(303): Show c.1569+5711_1569+5712insCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTAAATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTGATATAT CTGTATATATCTATCTAAATCTCTATCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCT AAATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPNL_chr2_238095340_238138287	238119564	A A	ATGGATGG others(277): Show ATGGATGGAGGAGGTGGATGGAGGAGGGTGGATGGAGGAGGTGGATGGAG GAGGGTGAATGGAGGAGGTGGATGAAGGACGTGGATGAAGGAGTTGGATG GAGGAGGTGGATGGAGGAGGGTGGATGGAGGAGGGTGAATGGAGGAGGGG GAGGTGGAGGAGAGGAGTGGAGGAGGTTAGATGAAGGAGGAATGGATGGA GGAGGTGGATGGAGGAGGGGGTGGAGGAGGGGAGATGGAGGAGGTGGATG GAGGAGGTGGATGAAGGAGGAATGGATGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0074 a0005c0007t0001g0074	1	408	0.0025	284	c.987 others(301): Show c.987+2556_987+2557insGTGGATGGAGGAGGTGGATGGAGGAGGG TGAATGGAGGAGGTGGATGAAGGACGTGGATGAAGGAGTTGGATGGAGGA GGTGGATGGAGGAGGGTGGATGGAGGAGGGTGAATGGAGGAGGGGGAGGT GGAGGAGAGGAGTGGAGGAGGTTAGATGAAGGAGGAATGGATGGAGGAGG TGGATGGAGGAGGGGGTGGAGGAGGGGAGATGGAGGAGGTGGATGGAGGA GGTGGATGAAGGAGGAATGGATGGAGGAGGTGGATGGAGGAGGTGGATGG AGGAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGAGGG others(277): Show GAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACG CAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGG GCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTC GGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	412	0.0024	284	c.46 others(295): Show c.4679_*4680insAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGG CAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT GGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGG GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(277): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGG GCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTC GGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG02080.hp1 HG04115.hp1 HG01952.hp2 HG02080.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0171 a0001c0002t0001g0244 a0001c0002t0001g0133 a0001c0002t0001g0171 a0001c0002t0001g0244	3	412	0.0073	284	c.46 others(295): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT GGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGG GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(277): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0365 a0001c0002t0001g0365	1	412	0.0024	284	c.46 others(295): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(277): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCGCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCC TCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTC CCCCTCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGC TCCCTCCCCCTCCATCCCTTCCCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp2 HG01943.hp1 others(14): Show HG00673.hp1 HG01358.hp2 HG01943.hp1 HG02080.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG04228.hp1 NA18612.hp2 NA18951.hp2 NA19007.hp1 NA20300.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0020 a0007c0008	a0001c0001t0011 a0001c0001t0045 a0001c0001t0064 others(12): Show a0001c0001t0011 a0001c0001t0045 a0001c0001t0064 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0032 a0001c0002t0048 a0001c0002t0049 a0001c0004t0008 a0004c0020t0037 a0007c0008t0001	a0001c0001t0011g0001 a0001c0001t0045g0019 a0001c0001t0064g0026 others(14): Show a0001c0001t0011g0001 a0001c0001t0045g0019 a0001c0001t0064g0026 a0001c0002t0001g0028 a0001c0002t0001g0095 a0001c0002t0001g0115 a0001c0002t0008g0155 a0001c0002t0009g0121 a0001c0002t0010g0210 a0001c0002t0012g0134 a0001c0002t0013g0191 a0001c0002t0032g0218 a0001c0002t0048g0196 a0001c0002t0049g0014 a0001c0004t0008g0057 a0004c0020t0037g0021 a0007c0008t0001g0029	17	218	0.0780	284	c.-23 others(303): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCT CCCCGCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTC CCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTC TGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCC CCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGF22_chr19_634879_649373	642276	A A	ATGGGGTG others(277): Show ATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGGTCCCTGGGGTGGT GTGAGCTGTGAGGGCCGGGCTGGGGGGTCTCTGGGGTGGTGTGAGCTGTG AGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGG GCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGG GTCCCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCCTGGGG TGGTGTGAGCTGTGAGGGCCGGGCTGGGGGGTCTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	434	0.0023	284	c.215 others(299): Show c.215-924_215-923insGTCCCTGGGGTGGTGTGAGCTGTGAGGGCC GGGCTGGGGGGTCTCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGG CTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATAT GGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGGTCCCTGGGGTGGTGT GAGCTGTGAGGGCCGGGCTGGGGGCTCCCTGGGGTGGTGTGAGCTGTGAG GGCCGGGCTGGGGGGTCTCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTG GGGG	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(277): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0251 a0001c0003t0001g0251	1	370	0.0027	284	c.189 others(303): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(277): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04204.hp2 NA18947.hp2 others(3): Show HG02129.hp2 HG04204.hp2 NA18947.hp2 NA18961.hp1 NA18987.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0260 a0001c0001t0004g0268 others(2): Show a0001c0001t0004g0024 a0001c0001t0004g0260 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0275	6	420	0.0143	284	c.702 others(301): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAAT AGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(277): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCTCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	406	0.0025	284	c.33 others(295): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCT ACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCTCCCCCCAGCCTACCCCCTCCCCCCG CCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTT CTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(277): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTC CCGCCCCCTCCAGCCTACCCCTCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	406	0.0025	284	c.33 others(295): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCT ACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCC GCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCGCCCACTT CTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(277): Show CCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0026 a0026	a0026c0015 a0026c0015	a0026c0015t0001 a0026c0015t0001	a0026c0015t0001g0000 a0026c0015t0001g0000	1	406	0.0025	284	c.33 others(295): Show c.3310_*3311insCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCT ACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCG CCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTT CTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(277): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGGCGGGAGGGGACGGGGGCG GGACGGGGAGCGGGGAGGGGGGGGCGGGGAGGAGGGGATTGGGGGCGGGG GGGAGGGGGAGGGGGCGAGGGGGGGCGGCGGGGATTGGGCGGTGGGGGAG GGGGGGGCGGGGGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	364	0.0028	284	c.-20 others(293): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGGCGGGA GGGGACGGGGGCGGGACGGGGAGCGGGGAGGGGGGGGCGGGGAGGAGGGG ATTGGGGGCGGGGGGGAGGGGGAGGGGGCGAGGGGGGGCGGCGGGGATTG GGCGGTGGGGGAGGGGGGGGCGGGGGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GALNT5_chr2_157252705_157323491	157276780	T T	TTCATTGA others(277): Show TTCATTGATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 NA18906.hp2 HG03130.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0088 a0001c0002t0078 a0001c0002t0086 a0001c0001t0088 a0001c0002t0078 a0001c0002t0086	a0001c0001t0088g0246 a0001c0002t0078g0247 a0001c0002t0086g0248 a0001c0001t0088g0246 a0001c0002t0078g0247 a0001c0002t0086g0248	3	282	0.0106	284	c.145 others(303): Show c.1455-7499_1455-7498insTTGATTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTCA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAP43_chr3_115618510_115726483	115696852	G G	GACAGAGT others(277): Show GACAGAGTCCCACCGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	352	0.0028	284	c.628 others(303): Show c.628+20255_628+20256insGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAAAACAGA GTCCCACC	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNAL_chr18_11684264_11890685	11804201	A A	ATGGAACA others(277): Show ATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGAGT GGAACATGGAGATTCTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAA CACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACA CGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAACACGGAGA TACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0131 a0001c0001t0102g0131	1	248	0.0040	284	c.625 others(303): Show c.625-20677_625-20676insAGTTTGAGTGGAACATGGAGATTCTG TGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTG TAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGTA GTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGT GGTGAAGTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGGTGAA GTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTGAAGT ACAGGTGC	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11804201	A A	ATGGAACA others(277): Show ATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGAGT GGAACATGGAGATTCTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAA CACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACA CGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAACACGGAGA TACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0036 a0001c0001t0082g0036	1	284	0.0035	284	c.394 others(303): Show c.394-20677_394-20676insAGTTTGAGTGGAACATGGAGATTCTG TGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTG TAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGTA GTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGT GGTGAAGTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGGTGAA GTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTGAAGT ACAGGTGC	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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