Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(603): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	196	0.0051	610	c.43 others(621): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACG TATTTATACATATATATGTATAAATATGTACGTATTTATACATATATATG TATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATT TATACATATATATGTATAAATATGTATGTATTTATACATATATATGTATA AATATGTATGTATTTATACATATATATGTATAAATATGTATGTATTTATA CATATATATGTATAAATATGTATGTATACATATATGTATAAATATGTATG TATTTATACATATATGTATTAATACGTATTTATACATATATGTATTAATA CGTATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SCUBE1_chr22_43192280_43348372	43339770	A A	ATTCTATC others(603): Show ATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTA CCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCA TCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCA CTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCA ACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCC TCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCT CCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTC CCCCACTCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0006 a0004c0011t0006	a0004c0011t0006g0236 a0004c0011t0006g0236	1	278	0.0036	610	c.89- others(623): Show c.89-536_89-535insGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGT GGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGGGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGG GGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGG ATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGA GTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGT GGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGG GGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGA GGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGG CTGGAGTGATGCTTGTGGGGGGATAGAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(603): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0023 a0010c0014t0023	a0010c0014t0023g0072 a0010c0014t0023g0072	1	168	0.0060	610	c.323 others(629): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(603): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATTATATAAATA TAAATATATTATATATAATATATAATATAAATATATTATATATAATATAT AATATAAATATATTATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATATTATATATATTATATATATTATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	132	0.0076	610	c.-70 others(627): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATATAATATATATATTATATATATTATATATAATATATA TATTATATATATTATATATAATATATTTATATTATATATTATATATAATA TATTTATATTATATATTATATATAATATATTTATATTTATATAATATATA ATATATTTATATTATATATAATATATATAATATATTTATATTTATGTATA ATATATATAATATATTTATATTTATGTATAATATATATAATATATTTATA TTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(603): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATAATATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATATTATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	132	0.0076	610	c.-70 others(627): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTTATATATA ATATATATAATATATTTATATTTATGTATAATATATATAATATATTTATA TTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(603): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATAATATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATATTATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATATATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATAATATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	132	0.0076	610	c.-70 others(627): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATATTATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATATATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTTATATATA ATATATATAATATATTTATATTTATGTATAATATATATAATATATTTATA TTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(603): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATACAATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	82	0.0122	610	c.12+ others(625): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATAAAATATATTATAGTTTATATAATATATACAATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPAAR_chr9_35904490_35916686	35914334	G G	GTGTGTGT others(603): Show GTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18998.hp1 NA18964.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	358	0.0056	610	c.36 others(621): Show c.3643_*3644insTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT GGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGT GGTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2649		chr9	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(603): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	9	0.1111	610	c.75 others(621): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TERT_chr5_1248167_1300068	1273533	C C	CCGTGATC others(603): Show CCGTGATCGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCAC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACATCAGA CCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCCGTGATCGACCGCCATCCA CAGTCACCACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCGT GATCGACCACCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCA CCATCCACAGTCACCACACATCAGACCCCTGTGACCGACTGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCCGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0188 a0001c0008t0002g0188	1	374	0.0027	610	c.228 others(629): Show c.2287-1254_2287-1253insTCACGGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGG GTCTGATGTGTGGTGACTGTGGATGGTGGTCGATCACGGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTTGGTCCCGGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGAT CACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGGTGACT GTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGATCACG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376820	T T	TCTGTGCC others(603): Show TCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAG CCTCTCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCC CCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCCTCTCCCCCTCCG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC CCTGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCCTCTC CCCCTCCGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCA GCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0060 a0001c0001t0002g0061	2	327	0.0061	610	c.-85 others(619): Show c.-851_-850insGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGAGGGGGA GAGGCTGGGTGGGGGCACGGAGGGGGAGAGGCTGGGTGGGGGCACGGAGG GGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACGGAGGGGGAGAGGCTGGGTGGGGG CACGGAGGGGGAGAGGCTGGGTGGGGGCACGGAGGGGGAGAGGCTGGGTG GGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGG CTGGGTGGGGCACGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAG GCTGGGTGGGGCACGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGA GGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACGGGGG GGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		795		chr19	TogoVar
TMEM163_chr2_134450759_134724000	134608389	A A	AAGGAGGA others(603): Show AAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAA AGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGAC AGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCT GGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGAGGACAGACCCCGAGAACTTTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCAAGAACTGTGC TGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18983.hp1 NA18985.hp2 others(2): Show HG02080.hp2 NA18983.hp1 NA18985.hp2 NA18994.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0055 a0001c0001t0003g0043 a0001c0001t0003g0127 others(2): Show a0001c0001t0001g0055 a0001c0001t0003g0043 a0001c0001t0003g0127 a0001c0001t0003g0197 a0001c0001t0004g0042	5	188	0.0266	610	c.323 others(629): Show c.323-56299_323-56298insCCTTTTCACCAGCACAGTTCTTGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCAAAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACC AGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM242_chr6_157284025_157328519	157311530	G G	GGCCTCCT others(603): Show GGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAA GCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGTGC CCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTCAC CTAGCCTCATCATAGTGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGT GCCCCAGGGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTGGCCTCATCATAGTATCCCAGAGTGCGCTCACCGAGCCTCATCATA GTGTCCCAGTGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCAT CATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGTGT GCGCTCACCTA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	284	0.0035	610	c.327 others(627): Show c.327+7251_327+7252insTAGGTGAGCGCACACTGGGACACTCTGA TGAAGCTAGGTGTGCACACACTGGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACTAT GGTGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAG TGCACACTGGGGCACTATGACTAGGCCGGGTGAGCGCACACTGGGACACT ATGATGAGGCTCGGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTG AGCGCACTCTGGGATACTATGATGAGGCCAGGTGAGTGCACACTGGGACA CTATGATGAGGCTAGGTGAGTGCACCCTGGGGCACTATGATGAGGCTAGG TGAGCGCAGACTGGGACACTATGATGAGGCTAGGTGAGCTCACACTGAGA CAGTATGATGAGGCTAGGTGAGCGGACACTGGGGCACTATGATGAGGCTA GGTGAGCGCACTGCGACACTCTGATGAGGCTGCTTGAGTGCAGACTGGGG CACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTA GGTGAGTGCTCACTGGGGCACTATGAGGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313113	T T	TGCTGAGC others(603): Show TGCTGAGCTAGCCTCATCATAGTGCCCCAGTGTACACTCATCTAGCCTTA TCATAGTTTCCCAGTGTGCACTCACCTAGCCTCAACATAGTGCCCCAGTG TGCGTTGACCTGGCCTCATTATAGTGCCCCAGTGTGCATTTACCTAGCCT CATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCAGTGCCACAGTG TGCACTCACCTAGCGTCATCATAGTGCCCCAGTGTGCACTCACCGAGCCT CATCATAGTGCCCCACTGTGCTCTCACCTAGTCTCATCATAGTGTCCCAG TGTGCACTCACCGAGCCTCATCATAGCGCCCCAGTGTGCACTCAGCTAGC CTCATCATAGTGTCCCAGTGTGCGCTAACCTAGCCTCATAATAGTGCCCC AGTGTCCCCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTG GCCTCATCATAGTGTCCCACTGTGCGCTCACCCAGCCTCATCATAGTGCC TCAGTGTGCCCTCACCTGGCCTCATCATACTATTGCAGAGTGCACTCACC TGGCCTCATCATAGTGTCCCAGTGTGCGCTCATCCGGCATCATCATAGTG TCCCAGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02109.hp2 others(2): Show HG01891.hp1 HG01934.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0272 a0001c0001t0008g0315 a0001c0001t0008g0316 others(2): Show a0001c0001t0008g0272 a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0318	5	274	0.0182	610	c.327 others(627): Show c.327+5668_327+5669insGCACACTGGGACACTATGATGATGCCGG ATGAGCGCACACTGGGACACTATGATGAGGCCAGGTGAGTGCACTCTGCA ATAGTATGATGAGGCCAGGTGAGGGCACACTGAGGCACTATGATGAGGCT GGGTGAGCGCACAGTGGGACACTATGATGAGGCCAGGTGAGTGCACACTG GGACACTATGATGAGGCCAGGTGAGGGGACACTGGGGCACTATTATGAGG CTAGGTTAGCGCACACTGGGACACTATGATGAGGCTAGCTGAGTGCACAC TGGGGCGCTATGATGAGGCTCGGTGAGTGCACACTGGGACACTATGATGA GACTAGGTGAGAGCACAGTGGGGCACTATGATGAGGCTCGGTGAGTGCAC ACTGGGGCACTATGATGACGCTAGGTGAGTGCACACTGTGGCACTGATGA GGCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTAAATGCAC ACTGGGGCACTATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTT GAGGCTAGGTGAGTGCACACTGGGAAACTATGATAAGGCTAGATGAGTGT ACACTGGGGCACTATGATGAGGCTAGCTCAGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CCTCTCCC others(603): Show CCTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCC TCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCC CCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCC TCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTC CCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC TCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0085 a0004c0003t0003g0085	1	46	0.0217	610	c.-25 others(629): Show c.-25-12169_-25-12168insCTCTCCCCTCCCCTCTCCCCCCCCTC CCCTCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTC TCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCT CTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCC CCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCC CCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCT CTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418883	T T	TTCCCTCC others(603): Show TTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTC CTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTT CCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCCTTC CCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTT CCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTT CCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCC TCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCC CACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCC CTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTT TCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTC CCTCCCTTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG02135.hp2 HG00099.hp1 HG00280.hp2 HG02135.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0015 a0002c0002 a0009c0015	a0002c0002t0001 a0009c0015t0001 a0002c0002t0001 a0009c0015t0001	a0002c0002t0001g0025 a0002c0002t0001g0100 a0009c0015t0001g0031 a0002c0002t0001g0025 a0002c0002t0001g0100 a0009c0015t0001g0031	3	102	0.0294	610	c.215 others(627): Show c.2154+746_2154+747insCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCC TCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNS3_chr7_47270154_47587111	47363030	T T	TCACCATC others(603): Show TCACCATCATCATCATCATCACCATTACCACTATCAAGATCATTACCACC ATCAACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCAC CATCACCATCATCATCACCATTACCACTATCAAGATCATTACCACCATCA ACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCACCACC ATCACCATGACCATCATCACCATCAACATCATCACCACCTTCAACATCAT CACCATCATCATTGTCACCATCACCATCACCAAACAATCATGACCATCAT TATCATCACCATCATCACCATCATCTCTGTCATCGTCACCATCACCATCA TCACCATCACCACTGTCATCACACCATCACCACCATCAACATCATCACAG TCATTATCACCATCATCAGGGTCATCACCATCAACATCAGCACCACCATC ACCATCATCACCATCATCCCAGTCATCACCATCATCGCTGTCATCATCAC CATCACCATCATCACTATCACCACCATCAACATCATCACCACCATCACCG TCATCATCCACCATCACCACTACCAATATCACAGTCATCATCATCATCAT CATCATATCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03453.hp2 others(1): Show HG02280.hp2 HG02809.hp1 HG03453.hp2 HG03471.hp2	a0001 a0006 a0001 a0006	a0001c0027 a0006c0035 a0006c0036 others(1): Show a0001c0027 a0006c0035 a0006c0036 a0006c0037	a0001c0027t0007 a0006c0035t0002 a0006c0036t0012 others(1): Show a0001c0027t0007 a0006c0035t0002 a0006c0036t0012 a0006c0037t0028	a0001c0027t0007g0185 a0006c0035t0002g0005 a0006c0036t0012g0133 others(1): Show a0001c0027t0007g0185 a0006c0035t0002g0005 a0006c0036t0012g0133 a0006c0037t0028g0006	4	8	0.5000	610	c.228 others(629): Show c.2281+5334_2281+5335insGTGATATGATGATGATGATGATGATG ACTGTGATATTGGTAGTGGTGATGGTGGATGATGACGGTGATGGTGGTGA TGATGTTGATGGTGGTGATAGTGATGATGGTGATGGTGATGATGACAGCG ATGATGGTGATGACTGGGATGATGGTGATGATGGTGATGGTGGTGCTGAT GTTGATGGTGATGACCCTGATGATGGTGATAATGACTGTGATGATGTTGA TGGTGGTGATGGTGTGATGACAGTGGTGATGGTGATGATGGTGATGGTGA CGATGACAGAGATGATGGTGATGATGGTGATGATAATGATGGTCATGATT GTTTGGTGATGGTGATGGTGACAATGATGATGGTGATGATGTTGAAGGTG GTGATGATGTTGATGGTGATGATGGTCATGGTGATGGTGGTGATGACCCT GATGATGGTGATGACTGTGATGATGGTGATGATGTTGATGGTGGTAATGA TCTTGATAGTGGTAATGGTGATGATGATGGTGATGGTGATGACCCTGATG ATGGTGATGACTGTGATGATGGTGATGATGTTGATGGTGGTAATGATCTT GATAGTGGTAATGGTGATGATGATGATGATGGTG	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	17/30			chr7	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(603): Show TGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGC TGGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	76	0.0132	610	c.46 others(621): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCT AACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCT CCCTAACCCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(603): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATATATATACATTATACATAC GTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp1 HG03471.hp2 others(3): Show HG00673.hp2 HG02155.hp1 HG03471.hp2 NA18612.hp2 NA19005.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0091 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0200 a0001c0001t0002g0041	6	334	0.0180	610	c.-23 others(627): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(603): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATATATATACATTATACATAC GTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01167.hp2 others(9): Show HG00140.hp1 HG00558.hp2 HG01167.hp2 HG01496.hp2 HG02083.hp1 HG02523.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp1 NA18948.hp2 NA18955.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0039g0093	12	309	0.0388	610	c.-23 others(627): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	AATCACCC others(603): Show AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCCATC ACCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAA TACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGG ATTAATACCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0250 a0002c0006t0001g0250	1	159	0.0063	610	c.141 others(629): Show c.1418-5674_1418-5673insCATCACCCCAGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCC CTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGG ATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAA TACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCC CATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATAC CCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAC CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACC CCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCCATCACCCCTGG ATTAATCCCCCCATCACCCCAGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(603): Show TTATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTTTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATACATATAT AAAAATTATATATATATTATACATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATAAT ATATATATATAAAAATTATATATATATATTATATATATATAAAAATTATA TATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	610	c.28 others(621): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTTTATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATACATATATAAAAATTATATATATATTATACATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATAATATATATATATAAAAATTATATATATATATTATATA TATATAAAAATTATATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(603): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0047 a0002c0003t0002g0047	1	8	0.1250	610	c.657 others(625): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(603): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCC TCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0004 a0005c0020t0004	a0005c0020t0004g0049 a0005c0020t0004g0049	1	197	0.0051	610	c.483 others(625): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCT CCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(603): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	25	0.0400	610	c.483 others(625): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(603): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGAGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGG GAGGGGAGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGG AGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGG AGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAG GGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAG GGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAG GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0232 a0001c0005t0002g0232	1	72	0.0139	610	c.205 others(629): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCC TCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTC CCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCC TTCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCTTC CCTCCCCTCCCTCCCCTTCCCTCCCTCTCCTCCCTCCCCTCCCTCCCTCC CCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCC TCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCT TTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF516_chr18_76352682_76500242	76401740	T T	TCTCCACC others(603): Show TCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACC CCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTC CACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCC CCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACC ACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCA ACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCG CACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCCA CACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACC CCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACC CCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTC CACCACCCACACCCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCC GCGCCGCACCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0023 a0001c0001t0033g0023	1	333	0.0030	610	c.181 others(631): Show c.1811-21438_1811-21437insGGGTGCGGCGCGGGGCTGTGGTTG GTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTG GAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGG GCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGG GGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTG TGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAG GTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGT TGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTG GAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(604): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0048 a0001c0004t0013g0048	1	209	0.0048	611	c.49- others(626): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(604): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGG CTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTG CGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGG CACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATC CAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02135.hp1 NA18948.hp2 others(6): Show HG01928.hp2 HG02135.hp1 NA18948.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA19002.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0073	a0001c0001t0001g0200 a0001c0001t0002g0113 a0001c0001t0003g0066 others(6): Show a0001c0001t0001g0200 a0001c0001t0002g0113 a0001c0001t0003g0066 a0001c0001t0004g0299 a0001c0001t0005g0319 a0001c0001t0006g0055 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0073g0114	9	196	0.0459	611	c.61+ others(628): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATC CCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(604): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGG CTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATCCAGGCACACCTG CGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGG CACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTC CAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	188	0.0053	611	c.61+ others(628): Show c.61+25858_61+25859insCAGGTGTGCCTGGACCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATC CCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(604): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGG CTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTG CGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGG CACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATC CAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02071.hp2 HG02129.hp2 others(1): Show HG01358.hp2 HG02071.hp2 HG02129.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0183 a0001c0001t0004g0252 a0001c0001t0005g0323 others(1): Show a0001c0001t0002g0183 a0001c0001t0004g0252 a0001c0001t0005g0323 a0001c0002t0001g0163	4	191	0.0209	611	c.61+ others(628): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATC CCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCCAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(604): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGG CTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATCCAGGCACACCTG CGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGG CACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATC CAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0090 a0001c0001t0066g0090	1	188	0.0053	611	c.61+ others(628): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATC CCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCCAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(604): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGG CTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTG CGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGG CACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATC CAGGCACACCTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0305 a0001c0001t0005g0305	1	188	0.0053	611	c.61+ others(628): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACC CCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(604): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAA GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 NA21309.hp2 HG01167.hp2 HG01169.hp2 NA21309.hp2	a0003 a0003	a0003c0006 a0003c0047 a0003c0006 a0003c0047	a0003c0006t0021 a0003c0047t0041 a0003c0006t0021 a0003c0047t0041	a0003c0006t0021g0088 a0003c0006t0021g0089 a0003c0047t0041g0168 a0003c0006t0021g0088 a0003c0006t0021g0089 a0003c0047t0041g0168	3	27	0.1111	611	c.259 others(632): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTC CCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCC TTTCCTTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCC ACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTC CCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(604): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGG GGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG GGAGGAGGGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGA GGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA GGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	183	0.0055	611	c.125 others(632): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCC CTCCTCCTCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCC TTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTC CCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(604): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATTATATATTCTCATAT ATATAATATATATATTCTCATATATAATATATATTCTCATATATATAATA TATACTCATATATTATATATATTCTCATATATTATATATATACTCATATA TAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAATAT ATATTCTCATATATAATATATATTCTCATATATGACATATTATATATATT CTCATATATATTATATATTCTCATATATAATATATATTCTCATATAATAT ATTATATATTCTCATATAATATATTATATATTCTCATATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0000 a0001c0001t0065g0000	1	10	0.1000	611	c.10 others(624): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGAA TATATAATATATTATATGAGAATATATAATATATTATATGAGAATATATA TTATATATGAGAATATATAATATATATGAGAATATATATAATATGTCATA TATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAAA TATATATTATATATTAGAATATATACATTATATATGAGTATATATATAAT ATATGAGAATATATATAATATATGAGTATATATTATATATATGAGAATAT ATATTATATATGAGAATATATATATTATATATATGAGAATATATAATATA TATATGAGAATATATATTATATATATGAGTATATATAATATATATGAGAA TATATATTATATGTATATAATATATATAATATATAATATATAATATATAA TATATAATATATACATATATACATATAATATATAAACATATAATATATAA TATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AP2A2_chr11_920870_1017240	975421	T T	TGTGTGAG others(604): Show TGTGTGAGCCGACGTCGGAGAGCAGCGGTGGGGTCCTCGGTCTCCCTCGT GTGAGCCGACATCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTG AGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGC CGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGA CGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGT CGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGG AGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGA GTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTA GCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCG GTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTG GGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGG TCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCC TCGGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02717.hp2 others(4): Show HG02451.hp1 HG02622.hp1 HG02717.hp2 HG02886.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0004 a0002c0007t0004 a0001c0002t0004 a0002c0007t0004	a0001c0002t0004g0226 a0001c0002t0004g0228 a0001c0002t0004g0235 others(4): Show a0001c0002t0004g0226 a0001c0002t0004g0228 a0001c0002t0004g0235 a0001c0002t0004g0252 a0001c0002t0004g0253 a0001c0002t0004g0254 a0002c0007t0004g0224	7	253	0.0277	611	c.474 others(628): Show c.474-1653_474-1652insCAGCGGTGGGGTCCTCGGTCTCCCTCGT GTGAGCCGACATCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTG AGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGC CGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGA CGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGT CGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGG AGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGA GTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTA GCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCG GTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTG GGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGG TCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCC TCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1825077	T T	TCCACCTG others(604): Show TCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCA CCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACC CCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCC CCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCA CCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCG CACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTG TCCCCCCGCACC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0002 a0003c0044t0002	a0003c0044t0002g0328 a0003c0044t0002g0328	1	351	0.0028	611	c.-48 others(626): Show c.-48+996_-48+997insTGCACCCCACCTGTTCACCTGCACCCCACC TGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCC CCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCAC CTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGC ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
B3GNTL1_chr17_82937149_83056770	83022566	G G	GCCCACCT others(604): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCGGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTG CACCGGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTCAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACGTTAGCTCAGCACTGTCCCCGCCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTC ACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACA TGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACGTTA GCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACGTTAGCT TAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAG CACTGTCCCCGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	250	0.0040	611	c.298 others(628): Show c.298-8048_298-8047insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGC TGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGC AGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGG TGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGG GGCGGGGACAGTGCTGAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCC GGGGACAGTGCTGAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGG GACAGTGCTAAGCTAACGTGAGTTCACGCCGGTGCAGGTGGGCCGGGGAC AGTGCTAAGCTAACGTGAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGT GCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCT AAGCTAACGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022660	G G	GCCCACCT others(604): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCGGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCGG CGTGAACTCACGTTAGCTCAGCACTGTCCCCGCCCCACCTGCACCGGCGT GAACTCACGTGAGCTTAGCACTGTCCTCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTC ACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACA TGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTA GCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAACTCACGTTAGCT TAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAG CACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0013 a0001c0014t0001g0013	1	157	0.0064	611	c.298 others(628): Show c.298-8142_298-8141insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGC AGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGG TGGGCCGAGGACAGTGCTAAGCTCACGTGAGTTCACGCCGGTGCAGGTGG GGCGGGGACAGTGCTGAGCTAACGTGAGTTCACGCCGGTGCAGGTGGGCC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGG GACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGAC AGTGCTAAGCTAACGTGAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGT GCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTGCT AAGCTCATGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BOK_chr2_241553745_241579131	241570728	G G	GGGAGGGA others(604): Show GGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAG AGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGA GTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAG GTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTG GGAGAGCTGGGGTGTGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGG GTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGAGCGCCTGTGGGGGTG GGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTGGATGG GTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGGGGG GTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTGGA TGGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0267 a0001c0001t0005g0267	1	430	0.0023	611	c.513 others(626): Show c.513+451_513+452insTGGATGGGTGAGTGTCTGAGCGCCTGTGGG GGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTGG ATGGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGGTGCGAGG GTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTG TGGGGGTGGGAGAGCTGGGGTGTGAGGGTGCAGAGGTACGGGAGGGAGTG GTGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGAGCGCCTG TGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGA GTGGTGGATGGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGG TGCGAGGGTGCAGAGGTACAGGAGGGAGTGG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BRF1_chr14_105204286_105306001	105238027	T T	TGTGGCAC others(604): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGCAGCC CTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGACAGGCCA CACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAG CCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGC CACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGC AGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAG GCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTG GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	23	0.0435	611	c.694 others(628): Show c.694+3237_694+3238insGGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTGTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCAGGCTGTCCC CCGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C13orf46_chr13_113948705_113979076	113974180	C C	CTGGGGCG others(604): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTC TTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTT CCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC GCAGGCCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0012	1	384	0.0026	611	c.-18 others(620): Show c.-184_-183insACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGA AAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAG AAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGAAG AAGGGAAGACGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		105		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974180	C C	CTGGGGCG others(604): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTC TTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTT CCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC GCAGGCCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0065 a0002c0002t0038g0065	1	384	0.0026	611	c.-18 others(620): Show c.-184_-183insACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGA AAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAG AAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGAAG AAGGGAAGACGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		105		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974180	C C	CTGGGGCG others(604): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTC TTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTT CCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC GCAGGCCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG03834.hp1 NA18947.hp1 others(6): Show HG02273.hp1 HG03834.hp1 NA18947.hp1 NA18954.hp1 NA18971.hp1 NA18999.hp1 NA19074.hp2 NA19083.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0039 a0002c0002t0004 a0002c0002t0039	a0002c0002t0004g0012 a0002c0002t0004g0017 a0002c0002t0004g0063 others(2): Show a0002c0002t0004g0012 a0002c0002t0004g0017 a0002c0002t0004g0063 a0002c0002t0004g0066 a0002c0002t0039g0061	9	392	0.0230	611	c.-18 others(620): Show c.-184_-183insACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGA AAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAG AAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGAAG AAGGGAAGACGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		105		chr13	TogoVar
C20orf96_chr20_265863_295750	279046	G G	GGGAGGGC others(604): Show GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGG GACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGA CGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGG GACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0043 a0002c0007t0001g0043	1	403	0.0025	611	c.465 others(626): Show c.465+125_465+126insGTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCG TCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(604): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGC GCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGC CAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG CCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0128 a0001c0002t0013g0128	1	136	0.0074	611	c.49 others(622): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGG CCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGC AGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAA GAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(604): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATATAATTATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTTTATATATATAATTATATATATAATTTTA TATATATATAAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0155	1	94	0.0106	611	c.907 others(626): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAATTATATATATATAAAATTATATATATAATTATATATATATAAAAT TATATATATAATTATATATATATAAAATTATATATATAATTATATATATA TAAAATTATATATATAATTATATATATAAAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAATTATATATATAAAAT TATATATAATATATATATATAATTATATATAATATATATATAATTATATA TATAATTTTATATATATATATAATTATATATATATATATAAATATATATA ATTATATATATAAAATTATATATATAATTATATATAATATATATAATTAT ATATATAATTTTATATATATATATAATTATATATATATAAATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(604): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCC TCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGCGGAGGGG GATCCTCCTCAGGGGGAGGGGGGATCCTCCTCAGGGGGAGGGGGGATCCT CACGGGGAGTGGGGATCCTCCAAGGGGAGGGGGGATCCTCACGGGGAAGG GGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGG AGGTGGATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAG AGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGAT CCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0042 a0002c0004t0017g0042	1	5	0.2000	611	c.234 others(632): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTC CTCAGGGGGAGGGGGGATCCTCACGGGGAGTGGGGATCCTCCAAGGGGAG GGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCAC GGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTC ATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGG ATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(604): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTA CTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGG GGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGG AGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAG GGTGCAGGTGGGGTGGGGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTG GGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAG GGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02148.hp1 HG01934.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0228 a0001c0001t0001g0182 a0001c0001t0001g0228	2	5	0.4000	611	c.712 others(628): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCCCCACCCCACCTGCACCCTTCCCCCACCCCACC CCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCC CACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCACCCCT CCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCC CCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACC CCACCCCTCCCCCTCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTT CCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCAC CCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCC CTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAG CCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAG TAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar

Search by Variant

Search

Search Results