Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGTATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TAACTATTTTCAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0041 a0001c0001t0025g0041	1	29	0.0345	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGTATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTAACTATTTTCAAA		WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8						chr16	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGTATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTATTTTCAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00735.hp1 others(13): Show HG00438.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG02683.hp1 HG03710.hp2 HG03831.hp1 NA18998.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0002c0002t0006 a0002c0002t0011 a0002c0002t0012	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0028g0071 a0002c0002t0006g0063 a0002c0002t0006g0066 a0002c0002t0006g0068 a0002c0002t0011g0069 a0002c0002t0012g0098	16	44	0.3636	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGTATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTATTTTCAAA		WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8						chr16	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGGTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGTATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGGATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTGATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTATTTTCAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0048 a0003c0017t0001g0048	1	29	0.0345	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGGTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGTATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGGATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTGATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTATTTTCAAA		WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8						chr16	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGCCTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGGATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTGTTTTCAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	29	0.0345	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGCCTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGGATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTGTTTTCAAA		WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8						chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATACATATGACATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATATATGATATATATCATATATATCATATATATGACATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATACATATG ACATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATATATGATATATATCATATATATCATATA TATGACATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGCGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA19007.hp2 NA18966.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0053 a0002c0002t0001g0054	2	224	0.0089	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGCG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATCATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA19012.hp2 NA18948.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0001 a0002c0002t0001g0013	2	224	0.0089	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATCATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATCATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATC ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGACATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	223	0.0045	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGACATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGATATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA18953.hp2 NA18973.hp1 others(1): Show HG02129.hp1 NA18953.hp2 NA18973.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0025 a0002c0002t0001g0052 a0002c0002t0001g0001 a0002c0002t0001g0025 a0002c0002t0001g0052	4	226	0.0177	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGATATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATCATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATC ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(406): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA19090.hp2 NA18964.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0030 a0002c0002t0007g0030 a0002c0002t0001g0030 a0002c0002t0007g0030	2	224	0.0089	413	c.-34 others(424): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919189	A A	ATATACTT others(406): Show ATATACTTGTATACATATATACTATATATATACATATATACACATATATA CGTATATATATGTATATATACGTATATACATGTATATACACGTATATACA TGTATATATACGTATATATACACGTATATACATGTATATATACGTATATA TACACATATATACATGTATATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACGTATATATACACGTATATACATGTA TATATATACGTATATATACGTGTATATATATACGTATATATACGTATATA TACGTATATATATACGTGTATATATACACATATATACGTATATATATACA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATATGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0008 a0004c0020t0008	a0004c0020t0008g0239 a0004c0020t0008g0239	1	377	0.0027	413	c.-42 others(424): Show c.-4212_-4211insTATACTTGTATACATATATACTATATATATACAT ATATACACATATATACGTATATATATGTATATATACGTATATACATGTAT ATACACGTATATACATGTATATATACGTATATATACACGTATATACATGT ATATATACGTATATATACACATATATACATGTATATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACGTATATATAC ACGTATATACATGTATATATATACGTATATATACGTGTATATATATACGT ATATATACGTATATATACGTATATATATACGTGTATATATACACATATAT ACGTATATATATACATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATATGTGTATG		ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding					4061		chr19	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(407): Show GGAGGGAGAGGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0038 a0014c0029t0038	a0014c0029t0038g0086 a0014c0029t0038g0086	1	236	0.0042	414	c.523 others(433): Show c.523-13463_523-13462insAGAGGGAGACGGAGACGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5305091	A A	ACACACAC others(407): Show ACACACACACACATCCACACCACACACACACATTCCCACACCACACACAC ACACCCACACCACACACACACCCACACCACACACACACCCACCCACACAC ACACACACCCCACACCACACACACATCCCACACCACACACCACACCACAC ACACACATCCCACACCACACACACACACATCCCACACCACACACACACAC ATCCCACACACACACACATCCTACATCACACACACATCCCACACCACACA CACACTCCCACACCACACACACACACTCCCACACCACACACACACTCACA CATCCCACACCACACACTCCCACACCACACACACACAACCCACACACACA TACCACACCACACACACACATCCCACACCACCACACCATCCCACACCACC ACACACAACCCACAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0173 a0003c0016t0001g0173	1	330	0.0030	414	c.318 others(433): Show c.3186+1340_3186+1341insACACCACACACACACATTCCCACACC ACACACACACACCCACACCACACACACACCCACACCACACACACACCCAC CCACACACACACACACCCCACACCACACACACATCCCACACCACACACCA CACCACACACACACATCCCACACCACACACACACACATCCCACACCACAC ACACACACATCCCACACACACACACATCCTACATCACACACACATCCCAC ACCACACACACACTCCCACACCACACACACACACTCCCACACCACACACA CACTCACACATCCCACACCACACACTCCCACACCACACACACACAACCCA CACACACATACCACACCACACACACACATCCCACACCACCACACCATCCC ACACCACCACACACAACCCACACCACACACACACATCC		ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305403	C C	CACTTCCC others(407): Show CACTTCCCACACCACACACACACACACTTCCCACACCACACACACACAAA TCCCACACCAGACACACACACATCCCACACCACACACACACACCACACAC ACCACACCACAGACACACACATCCCACACCACACACCCCCCACACACACA CATCCCACACCACACACAGACATCCCACACCACACACACATCCCACACCA CACACACACACATCCCGCACCACACACTCACACATCCCACACCACACATA CACATCCCACACCACACACACATACCACACCACACACACACACATCCCAC ACCACACACACACACATCCCACACCACACACATCCACACCACACACACAC ACATCCCACACCAGACACACACATCCCACACACACACACACATCCCACAT CACACACAATCACAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0195 a0002c0013t0002g0195	1	330	0.0030	414	c.318 others(433): Show c.3187-1099_3187-1098insTTCCCACACCACACACACACACACTT CCCACACCACACACACACAAATCCCACACCAGACACACACACATCCCACA CCACACACACACACCACACACACCACACCACAGACACACACATCCCACAC CACACACCCCCCACACACACACATCCCACACCACACACAGACATCCCACA CCACACACACATCCCACACCACACACACACACATCCCGCACCACACACTC ACACATCCCACACCACACATACACATCCCACACCACACACACATACCACA CCACACACACACACATCCCACACCACACACACACACATCCCACACCACAC ACATCCACACCACACACACACACATCCCACACCAGACACACACATCCCAC ACACACACACACATCCCACATCACACACAATCACAAAC		ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGG GGAGGGGGGGGAGGAGGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGA GAGGGGGGAGGGGGGAGAGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGA GGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGG GGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAG GGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	30	0.0333	414	c.51 others(425): Show c.5165_*5166insCCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCCTCCTCCCCCCCCTCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCC CTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCC TCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGGA GAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	30	0.0333	414	c.51 others(425): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCC CTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCC TCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(407): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGGAGGA GGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGG AGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGG AGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGA GGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	30	0.0333	414	c.51 others(425): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCCTCCTCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCC CTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCC TCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(407): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGT CCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCCTCCATGGGTGCTCAGCC CCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGG TGCTCAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp1 HG03098.hp2 others(3): Show HG01081.hp2 HG02965.hp1 HG03098.hp2 NA18982.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0003 a0001c0001t0025 a0001c0001t0036 others(3): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0036 a0001c0003t0040 a0002c0002t0048 a0002c0004t0005	a0001c0001t0003g0098 a0001c0001t0025g0036 a0001c0001t0036g0072 others(3): Show a0001c0001t0003g0098 a0001c0001t0025g0036 a0001c0001t0036g0072 a0001c0003t0040g0073 a0002c0002t0048g0068 a0002c0004t0005g0029	6	7	0.8571	414	c.100 others(435): Show c.100+178382_100+178383insCGGGGGGGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGG GGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGG AGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAG TTTAGACGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGGACAGAGGTG GGATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCACAGAAGGGG ACAGAGGTGGGATGCAGATTTAGATGGGGTGTGTGGGGGCTGAGCACCCA CGGAGGGGGGCAGAGGTGGGATGTGGATTTAGATGGGGCA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(407): Show ATGCCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTGTGGGTGCTC AGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCCCACCTCTGC CCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCCTCCATGGGTGCTCAGCC CCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCTCCGTGGG TGCTCAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG01934.hp1 others(11): Show HG01081.hp1 HG01433.hp1 HG01934.hp1 HG02083.hp2 HG02257.hp1 HG02257.hp2 HG02602.hp2 HG03017.hp1 HG03017.hp2 NA18522.hp1 NA18983.hp2 NA18984.hp2 NA19070.hp2 NA19086.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0006c0009 a0010c0012	a0001c0001t0010 a0001c0001t0029 a0001c0001t0052 others(9): Show a0001c0001t0010 a0001c0001t0029 a0001c0001t0052 a0001c0001t0057 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0065 a0002c0004t0028 a0006c0009t0024 a0010c0012t0007	a0001c0001t0010g0025 a0001c0001t0029g0031 a0001c0001t0052g0062 others(11): Show a0001c0001t0010g0025 a0001c0001t0029g0031 a0001c0001t0052g0062 a0001c0001t0057g0103 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0033 a0002c0002t0006g0018 a0002c0002t0008g0047 a0002c0002t0065g0086 a0002c0004t0028g0020 a0006c0009t0024g0016 a0010c0012t0007g0006	14	15	0.9333	414	c.100 others(435): Show c.100+178382_100+178383insCGGGGGGGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGG GGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGG AGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAG TTTAGATGGAGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTG GGATTCGAGTTTAGACGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGG ACAGAGGTGGGATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCA CAGAAGGGGACAGAGGTGGGATGCAGATTTAGATGGGGCA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(407): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	123	0.0081	414	c.-1- others(429): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(407): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	123	0.0081	414	c.-1- others(429): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(407): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	123	0.0081	414	c.-1- others(429): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(407): Show TTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0148 a0001c0001t0007g0148	1	123	0.0081	414	c.-1- others(429): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(407): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACA CGTATATACGTATACGTGTACACACACATACACGTATATACGTCTACGTG TACACACATATACACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATACACGTCTACGTGTACACACATATACACGTATACGTCTACG TGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0106 a0001c0001t0013g0106	1	63	0.0159	414	c.48- others(431): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACACGTATATACGTATACGTGTACACACACATAC ACGTATATACGTCTACGTGTACACACATATACACGTCTACGTGTACACAC ATATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACAT ATACACGTATACGTCTACGTGTACACACATATACAC		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(407): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACACGTATATACGTATACGTGTACACACACATACACGTATATACGTCTA CGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTACG TGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	150	0.0067	414	c.48- others(431): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACACGTATATACGTATACGTGTACACACA CATACACGTATATACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATACACGTCTACGTGTACACACATATACA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(407): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACACGTATATACGTCTACGTGTACACACACATACACGTATATACGTCTA CGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTACG TGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0064 a0001c0001t0039g0064	1	150	0.0067	414	c.48- others(431): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACACGTATATACGTCTACGTGTACACACA CATACACGTATATACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATACACGTCTACGTGTACACACATATACA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	318246	C C	CACCTCCC others(407): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCT CCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG03704.hp1 others(3): Show HG00738.hp1 HG01975.hp2 HG03704.hp1 NA18951.hp2 NA18967.hp2 NA18982.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0021 a0001c0001 a0002c0002 a0015c0021	a0001c0001t0002 a0002c0002t0001 a0002c0002t0043 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0043 a0002c0002t0046 a0015c0021t0019	a0001c0001t0002g0074 a0002c0002t0001g0075 a0002c0002t0001g0109 others(3): Show a0001c0001t0002g0074 a0002c0002t0001g0075 a0002c0002t0001g0109 a0002c0002t0043g0046 a0002c0002t0046g0080 a0015c0021t0019g0110	6	251	0.0239	414	c.-35 others(425): Show c.-3584_-3583insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACC CTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3467		chr5	TogoVar
AK8_chr9_132720578_132883284	132812545	C C	CGGGTGAG others(407): Show CGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCAC TGGGATGACGGGTGAGCCGCCGCGCCCACTGGGATGACAGGGGTGAGCCG CCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGGATGACAG GGGTGAGCCGCCGCGCCCACTGGGATGATGGGTGAGCCGCCGCGCCCACT GGGATGACGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCG CGCCCACTGGGATGACAGGGGTGAGCCGCCGCGCCCACTGGGATGATGGG TGAGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGG ATGACGGGTGAGCCGCCGCGCCCACTGGGATGACAGGGGTGAGCCGCCGC GCCCACTGGGATGAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	241	0.0041	414	c.979 others(431): Show c.979+2092_979+2093insATCATCCCAGTGGGCGCGGCGGCTCACC CCTGTCATCCCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCG GCGGCTCACCCGTCATCCCAGTGGGCGCGGCGGCTCACCCATCATCCCAG TGGGCGCGGCGGCTCACCCCTGTCATCCCAGTGGGCGCGGCGGCTCACCC GTCATCCCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCG GCTCACCCATCATCCCAGTGGGCGCGGCGGCTCACCCCTGTCATCCCAGT GGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCGGCTCACCCCTG TCATCCCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCGG CTCACCCGTCATCCCAGTGGGCGCGGCGGCTCACCC		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12						chr9	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(407): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGG GGGGAGGAGGAGGGGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	183	0.0055	414	c.125 others(435): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCCTCC CCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCTTCTCCTCCTCCTCC CCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCC CCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCC TTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(407): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAG GAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGA GTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGGG AGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGG ATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAA GGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAG GGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03239.hp1 HG03927.hp2 HG02683.hp2 HG03239.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0144 a0001c0001t0001g0008 a0001c0001t0001g0144	3	228	0.0132	414	c.248 others(429): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCT CCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACC TCCTCCTCCCCCTCCCCTCACCTCCCCCTCCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(407): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	283	0.0035	414	c.838 others(429): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(407): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	180	0.0056	414	c.838 others(429): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(407): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	180	0.0056	414	c.838 others(429): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(407): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19064.hp1 HG02165.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0308 a0001c0001t0003g0196 a0001c0001t0003g0308	2	135	0.0148	414	c.838 others(429): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGGGAA others(407): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	143	0.0070	414	c.838 others(429): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGGGAA others(407): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	143	0.0070	414	c.838 others(429): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350011	G G	GAGGGGAA others(407): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	227	0.0044	414	c.838 others(429): Show c.838-815_838-814insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350015	G G	GGAAGGCA others(407): Show GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	314	0.0032	414	c.838 others(429): Show c.838-819_838-818insTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCTTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGATGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19064.hp2 NA19064.hp2	a0039 a0039	a0039c0031 a0039c0031	a0039c0031t0002 a0039c0031t0002	a0039c0031t0002g0001 a0039c0031t0002g0001	1	3	0.3333	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGATGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAspGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(94): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0002 a0018 a0021 others(5): Show a0002 a0018 a0021 a0023 a0026 a0031 a0038 a0040	a0002c0002 a0002c0006 a0002c0033 others(8): Show a0002c0002 a0002c0006 a0002c0033 a0002c0034 a0018c0025 a0021c0026 a0023c0027 a0026c0029 a0031c0022 a0038c0039 a0040c0028	a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 others(11): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0006t0002 a0002c0033t0002 a0002c0034t0002 a0018c0025t0002 a0021c0026t0002 a0023c0027t0002 a0026c0029t0002 a0031c0022t0002 a0038c0039t0002 a0040c0028t0002	a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0007g0001 others(12): Show a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0007g0001 a0002c0002t0008g0001 a0002c0002t0009g0001 a0002c0006t0002g0001 a0002c0033t0002g0001 a0002c0034t0002g0001 a0018c0025t0002g0001 a0021c0026t0002g0001 a0023c0027t0002g0001 a0026c0029t0002g0001 a0031c0022t0002g0001 a0038c0039t0002g0001 a0040c0028t0002g0001	97	99	0.9798	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0002 a0002c0036t0002	a0002c0036t0002g0001 a0002c0036t0002g0001	1	3	0.3333	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTTGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaTrpAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02074.hp1 NA18964.hp1 NA18997.hp1 HG02074.hp1 NA18964.hp1 NA18997.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0001 a0002c0012t0002g0006 a0002c0012t0002g0001 a0002c0012t0002g0006	3	5	0.6000	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19082.hp1 NA19091.hp1 NA19082.hp1 NA19091.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0001 a0002c0016t0002g0001	2	4	0.5000	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp2 HG02965.hp1 HG03471.hp1 others(2): Show HG02723.hp2 HG02965.hp1 HG03471.hp1 HG06807.hp1 NA20752.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0001 a0009c0009t0001g0001	5	7	0.7143	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494096	G G	GGGCTGGG others(407): Show GGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGAC TGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTG GGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAG GCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGT TGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTG GGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG02559.hp1	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0001 a0027c0044t0001	a0027c0044t0001g0004 a0027c0044t0001g0004	1	324	0.0031	414	c.552 others(423): Show c.5524_5525insAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTG GGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGC TGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTG GGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGG GCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGC TGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTGGGGCTGGGGCTG	p.Ala others(429): Show p.Ala1841_Gly1842insGluAlaGlyAlaGlyThrGluAlaGlyAla GlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGl yThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyA laGlyAlaGluValGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThr GluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGl uValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluA laGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAla GluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGl yAlaGluAlaGlyAlaGluAlaGlyAlaGlyAla	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6036/7729	5525/6873	1842/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATACAA others(407): Show TTATACAATATATAATGTATTGCATATAGATTGTACATACGTGTACATAC AATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATA TAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATA CGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAA TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18986.hp2 HG03471.hp1 NA18986.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0012 a0009c0016t0012	a0009c0016t0012g0164 a0009c0016t0012g0188 a0009c0016t0012g0164 a0009c0016t0012g0188	2	89	0.0225	414	c.676 others(431): Show c.676-3634_676-3633insTACACGTATGTACAATCTATATGCAATA CATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACA CGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATC TATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACA TTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTATATATTGTATA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(407): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCCC CCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0022 a0002c0010t0022	a0002c0010t0022g0072 a0002c0010t0022g0072	1	5	0.2000	414	c.39+ others(431): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCC CCACCCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar

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