Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABR_chr17_998519_1184981	1064625	T T	TTGTTTAC others(458): Show TTGTTTACGTGAACTGAGGCTATGCATGTTCCTCTAGCACTGCTGTTACG TGAACTGAGGGCCTATGCATGTTCCTCCAGACACTGTTGGTATGTGAACT GAGGGCTATGCATGTTCTCTAGACACTGTTGTTATGTGAACTGAGGGCTA TGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCC TCTAGACACTGTTGTTATGTGAAGTGAGGGCTATGCATGTTCCTCTAGAC ACTGTGTTATGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTAT TATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGA ACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTATGTGAACTGAGG GCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGC ATGTTCCTCTAGACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0090 a0007c0009t0006g0090	1	337	0.0030	465	c.118 others(484): Show c.1182+2451_1182+2452insGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCA CATAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAATAGCAGTGT CTAGAGGAACATGTATAGCCCTCAGTTCACATAACACAGTGTCTAGAGGA ACATGCATAGCCCTCACTTCACATAACAACAGTGTCTAGAGGAACATGCA TAACCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAG TTCACATAACAACAGTGTCTAGAGAACATGCATAGCCCTCAGTTCACATA CCAACAGTGTCTGGAGGAACATGCATAGGCCCTCAGTTCACGTAACAGCA GTGCTAGAGGAACATGCATAGCCTCAGTTCACGTAAACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(458): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGG GAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGA GAGGGGAGGGGGAGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	465	c.51 others(476): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCTCCCCCTCCCCTCTCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCCCTCCCCTCCTCC CTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTC CCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ARSF_chrX_3036471_3117727	3037056	T T	TATAATAT others(458): Show TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATAATATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATAATA TATATAAAATATATATAATATATATAATATATATAATATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATCATATATA TAATATATATATTATATATAAAATATATATCATATATATAATATATATAT TATATATAAAATATATATCATATATATAATATATATATTATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATTATA TATAAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	193	0.0052	465	c.-46 others(476): Show c.-4636_-4635insATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATATTATATATAAAATATATATAATATATATAATATA TATAAAATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATAATATATATAAAATATATATAATATATATAATATATATA ATATATATAAAATATATATAATATATATAATATATATATTATATATAAAA TATATATCATATATATAATATATATATTATATATAAAATATATATCATAT ATATAATATATATATTATATATAAAATATATATCATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATTATATATAAAATATATATAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4414		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TATAATAT others(458): Show TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATAATATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATAATA TATATAAAATATATATAATATATATAATATATATAATATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATCATATATA TAATATATATATTATATATAAAATATATATCATATATATAATATATATAT TATATATAAAATATATATCATATATATAATATATATATTATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATTATA TATAAAATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	248	0.0040	465	c.36 others(476): Show c.3671_*3672insATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATATTATATATAAAATATATATAATATATATAATATA TATAAAATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATAATATATATAAAATATATATAATATATATAATATATATA ATATATATAAAATATATATAATATATATAATATATATATTATATATAAAA TATATATCATATATATAATATATATATTATATATAAAATATATATCATAT ATATAATATATATATTATATATAAAATATATATCATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATTATATATAAAATATATATAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(458): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCACC TCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCC CCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0239 a0002c0010t0001g0239	1	254	0.0039	465	c.39+ others(482): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACC CCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCC CCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(458): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCC TCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTC CTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTC CTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCT CCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCC TCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAG CCCCTCCTCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0001 a0001c0001t0054g0001	1	334	0.0030	465	c.-10 others(476): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTC CTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCT CCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCT CACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTC AGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAG CCCTTCCTCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(458): Show CCTCTGCCCTCCTCCCCCTTCCCCCCTCCTCCCCCCACTCCTCTCCCCTC TTCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCC CCTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTC TCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACT CCTCTCCCCTCCCACTCCCTCCCCCACTCCTGTCCCCCCTCCCTCCCCCC TCTTCCCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTC CCCTCTTCCCCCCCACTCCCCCCCACTCCTCCCCCACTCCTCTCCCCTCT TGCCCCCCACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCC CCACTTCCTCCCCCACTCCCTCTCCCCCTCCTCCCCCACTCCTCTCCCCT CCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0039 a0021c0039	a0021c0039t0005 a0021c0039t0005	a0021c0039t0005g0039 a0021c0039t0005g0039	1	328	0.0031	465	c.178 others(480): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGGAGAGGGAGTGGGGGAGGAAGTGGGGGGAAGAGAGGAG AGGAGTGGGGAAGGAGTGGGGGAGGAGTGGGGGGCAAGAGGGGAGAGGAG TGGGGGAGGAGTGGGGGGGAGTGGGGGGGAAGAGGGGAGAGGAGTGGGGA GGAGGGAGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGGAGGG GGGACAGGAGTGGGGGAGGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGG GGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGA GGAGTGGGGGAGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGG GAGGAGGGAGATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGT GGGGGGAGGAGGGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C20orf96_chr20_265863_295750	279137	A A	AGGGACGG others(458): Show AGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGGA GGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGG GAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGA GGGACGGAGGGGTGGGGAGGGAGGGAGGGGAGGGCGGGACGGAGGGCGGG AGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAG GGCGGGAGGGCGGGACGGAGGGACGGAGGGCGGGGAGGGAGGGAGGGACG GAGGGCGGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGG GCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGA GGGAGGGACGGAGGGGCGGGAGGGCGGGGACGGAGGGAGGGCGGGACGGA GGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	410	0.0024	465	c.465 others(478): Show c.465+34_465+35insGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCGTCCCCGCCCTCCCGCCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCCTCCCTCCCTCCCT CCCGCCCTCCGTCCCTCCCTCCCTCCCCGCCCTCCGTCCCTCCCTCCCTC CCCGCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCG CCCTCCCCTCCCTCCCTCCCCACCCCTCCGTCCCTCCCTCCCTCCCGCCC TCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGC CCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCCACCCTCCGTCC CTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(458): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTC CCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	256	0.0039	465	c.-45 others(486): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(458): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGC CCCCTCCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCTCCTCCCCTCTCCCCTCCCCCTCCCCACCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCTCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTC CCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0005 a0001c0003t0035g0005	1	256	0.0039	465	c.-45 others(486): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCGCCCCCTCCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCC CCTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCTCCTCCCCTCTCCCCTCCCCCTCCCCACCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(458): Show ATGATGGTGATGATGATGATGGTGATGGTGATGATGATGGTGATAGTGAT GATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGA TGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAATGGTG ATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGAT GATGATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGA TGATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTA ATGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGAT GATGATGGTGATGGTAATGGTGATGGTGATGATGATGGTGATGATGATGG TGATGGTGATGGTGATGGTGATGGTGATGATGATTGTGATGATGATGGTG ATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 NA18906.hp1 HG02723.hp2 HG03139.hp1 NA18906.hp1	a0066 a0080 a0093 a0066 a0080 a0093	a0066c0056 a0080c0050 a0093c0067 a0066c0056 a0080c0050 a0093c0067	a0066c0056t0001 a0080c0050t0001 a0093c0067t0007 a0066c0056t0001 a0080c0050t0001 a0093c0067t0007	a0066c0056t0001g0179 a0080c0050t0001g0180 a0093c0067t0007g0177 a0066c0056t0001g0179 a0080c0050t0001g0180 a0093c0067t0007g0177	3	196	0.0153	465	c.-5- others(482): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGG TGATGATGATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTG ATGATGATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGAT GGTAATGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGA TGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATGGTGATGATG ATGGTGATGGTGATGGTGATGGTGATGGTGATGATGATTGTGATGATGAT GGTGATGGTGATGGTGATGGTGATGGTGATGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(458): Show ATGATGGTGATGATGATGATGGTGATGGTGATGATGATGGTGATAGTGAT GATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGA TGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAATGGTG ATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGAT GATGATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGA TGATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTA ATGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGAT GATGATGGTGATGGTAATGGTGATGGTGATGGTGATGATGATGGTGATGA TGATGGTGATGGTGATGGTAATGGTGATGGTGATGATGATTGTGATGATG ATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG01884.hp2 HG02809.hp1	a0049 a0068 a0049 a0068	a0049c0164 a0068c0156 a0049c0164 a0068c0156	a0049c0164t0013 a0068c0156t0008 a0049c0164t0013 a0068c0156t0008	a0049c0164t0013g0033 a0068c0156t0008g0031 a0049c0164t0013g0033 a0068c0156t0008g0031	2	196	0.0102	465	c.-5- others(482): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGG TGATGATGATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTG ATGATGATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGAT GGTAATGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGA TGATGATGATGGTGATGGTAATGGTGATGGTGATGGTGATGATGATGGTG ATGATGATGGTGATGGTGATGGTAATGGTGATGGTGATGATGATTGTGAT GATGATGGTGATGGTGATGGTGATGGTGATGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(458): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATA TATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	465	c.12 others(476): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGATGTAT CTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATAT ATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTAT CTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTAGATGTAT CTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATAT ATCTATATAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CHMP1A_chr16_89639435_89662708	89647984	G G	GGACCCAG others(458): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0054 a0001c0004t0003g0054	1	392	0.0026	465	c.253 others(480): Show c.253-654_253-653insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCGCTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(458): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACG GCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCA CCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp1 HG01258.hp1 HG00735.hp2 HG01256.hp1 HG01258.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0012 a0004c0006t0005g0013 a0004c0006t0005g0014 a0004c0006t0005g0012 a0004c0006t0005g0013 a0004c0006t0005g0014	3	346	0.0087	465	c.360 others(484): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGG TGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGG AGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGG AGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATG GCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTG GTGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TAAATATA others(458): Show TAAATATATAAATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATAAATATATATATAAATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATGTAAATATATATATAAATATATATAATATATAA ATATATATATAAATATATAAATATATAAATATATATGTAAATATATAAAT ATATAAATATATATGTAAATATATAAATATATATAAATATATATATAAAT ATATATAAATATATAAATATATATAAATACATATGTAAATATATAAATAT ATATAAATATATAAATATATATAGATATATATGTAAATATATATAAATAT ATATAGATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	264	0.0038	465	c.181 others(484): Show c.1812+3023_1812+3024insTTATATATATCTATATATATTTATAT ATATTTACATATATATCTATATATATTTATATATTTATATATATTTATAT ATTTACATATGTATTTATATATATTTATATATTTATATATATTTATATAT ATATTTATATATATTTATATATTTACATATATATTTATATATTTATATAT TTACATATATATTTATATATTTATATATTTATATATATATTTATATATTA TATATATTTATATATATATTTACATATTTATATATATTTATATATATATT TATATATTTATATATATTTATATATATATTTATATATATATTTATATATT TATATATATTTATATATATATTTATATATTTATATATATTTATATATATT TATATATATATTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTATATATATTTATATATATTTATATATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585737	C C	CCTGGATG others(458): Show CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTG GGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCC TGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAAT GCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGG CGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTAC AGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGG GTAATGCCCTACAGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0217 a0003c0005t0003g0217	1	236	0.0042	465	c.294 others(482): Show c.294+4166_294+4167insTGCTGTAGGGCATTACCCCAGCGCCATC CAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCT GTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCG CCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGC ATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCA GGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCC CAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT AGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCC ATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(458): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0001 a0001c0062t0001	a0001c0062t0001g0017 a0001c0062t0001g0017	1	344	0.0029	465	c.85- others(482): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(458): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCAACCGTCCGTCCATCCATCCCCCCACCCACCCGTC CGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACC CATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTG TCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	348	0.0029	465	c.13 others(476): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCAACCGTCCGTCCATCCATCC CCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGT CCACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1284626	C C	CGAGATCT others(458): Show CGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTT TTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCC CACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCA AGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATG TTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTGAGATGGAGTC TTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTA GCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTTT TTTTAATTTTATAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19064.hp2 HG01981.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0102 a0001c0001t0008g0120 a0001c0001t0002g0102 a0001c0001t0008g0120	2	159	0.0126	465	c.77- others(480): Show c.77-1096_77-1095insTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAGG AGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTT TTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCC AGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAA TTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAA GACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284661	T T	TTTTTTTT others(458): Show TTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGG GATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAA TACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGA GGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTT TTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCAC TCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGC TAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp2 HG02559.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0005 a0002c0003t0002 a0002c0004t0005	a0002c0003t0002g0140 a0002c0004t0005g0127 a0002c0003t0002g0140 a0002c0004t0005g0127	2	159	0.0126	465	c.77- others(480): Show c.77-1096_77-1095insTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGAGG AGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTT TTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTC CAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTA ATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCA AGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284661	T T	TTTTTTTT others(458): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTG GGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAA ATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAG AGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTT TTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCAC TCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGC TAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02155.hp2 HG03831.hp2 others(2): Show HG01358.hp1 HG02155.hp2 HG03831.hp2 HG04184.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0002t0001g0052 others(2): Show a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0002t0001g0052 a0001c0002t0003g0059 a0001c0002t0004g0083	5	159	0.0315	465	c.77- others(480): Show c.77-1096_77-1095insTTGAGATGGAGTCTTACTCTGTCTCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGG ATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAAT ACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAG GAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTT TTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTC CAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTA ATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCA AGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284704	T T	TCCCAGGC others(458): Show TCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCT TTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTG CAGAAATACACCACCATGCCAAGCTAATTTAAATATATTTTTTTTAATTT TATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTT TTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACC CTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCAT GCCAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCT ATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTTACTCTGTCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0010 a0002c0003t0005g0137 a0002c0003t0005g0010 a0002c0003t0005g0137	2	159	0.0126	465	c.77- others(480): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATATTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTTGAGA TGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTC CCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAA TTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAG TTTTTGATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCA CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284738	C C	CACTGCAG others(458): Show CACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT ATATTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAG TTTTTGATTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTT CTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCA GAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTAT AGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTT TTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00639.hp2 others(19): Show HG00408.hp2 HG00597.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01346.hp1 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02273.hp2 HG03239.hp2 HG03491.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18960.hp1 NA18969.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0015t0003	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 others(19): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0113 a0001c0001t0004g0072 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0004g0154 a0001c0001t0014g0043 a0001c0002t0003g0035 a0001c0002t0003g0080 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0132 a0001c0002t0006g0039 a0001c0015t0003g0081	22	159	0.1384	465	c.77- others(480): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATATTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGAT GGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT TTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGT TTTTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCA CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(458): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG GAGGTGGAGGGGGAGGGGGAGGTGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGG GGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0072 a0002c0002t0004g0072	1	216	0.0046	465	c.923 others(484): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCC CTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCCTCCCCCTCCACCTCCCCCTCCCCCTCCACCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACT CCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCT CCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCCCAC others(458): Show TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCAACACCCCCCAACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCAC ACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCACACACCCC CCACACCCCCACACACCCCCCACACCCCCACACACCCCCCACACCCCCAC ACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCC CCCACACCACACATCCCTCACACCCCCCAACACCCCCCAACACCCCCACA CACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCCCCACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	116	0.0086	465	c.207 others(484): Show c.2073+1382_2073+1383insCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCAACACCCCCCAACACCCCCACACACCCC CCACACCACACATCCCCCACACCCCCCACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACAC CCCCACACACCCCCCACACCCCCACACACCCCCCACACCCCCACACACCC CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCC CAACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACAC CCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCA CACCACACATCCCCCACACCCCCACACACCCCCCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(458): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	465	c.-42 others(476): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIP2C_chr10_269201_694668	346423	C C	CGCATAGT others(458): Show CGCATAGTTCTCCCGGAAACCCCACACGCACCCAGACACATCGCGCATAG TTCTCCCGGAAACCCCACACTCACCCAACCCAGACACATCGCGCATAGTT CTCCCGGAAACCCCACACTCACCCAACCCAGACACACCGCACATAGTTCT CCCGGGAACCCCACACTCACCCAACCCAGACACATCGCGTATAGTTCTCC CGGAAACGTCACACACACCCAACCCAGACACACCGCGCATAGTTCTCCCG GAAACGTCACACACACCCAGACACACCGCGCATAGTTCTCCCGGAAACCC CACACTCACCCAACCCAGACCTATCGCGTATAGTTCTCCCGGAAACGTCA CACACACCCAACCCAGACACATCGCGCATAGTTCTCCCGGAAACGTCACA CACACCCAGACACATCGCGCATAGTTCTCCCGGAAACCCCACACTCACCC AACCCAGACACATCGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	88	0.0114	465	c.323 others(484): Show c.3232-1314_3232-1313insACGATGTGTCTGGGTTGGGTGAGTGT GGGGTTTCCGGGAGAACTATGCGCGATGTGTCTGGGTGTGTGTGACGTTT CCGGGAGAACTATGCGCGATGTGTCTGGGTTGGGTGTGTGTGACGTTTCC GGGAGAACTATACGCGATAGGTCTGGGTTGGGTGAGTGTGGGGTTTCCGG GAGAACTATGCGCGGTGTGTCTGGGTGTGTGTGACGTTTCCGGGAGAACT ATGCGCGGTGTGTCTGGGTTGGGTGTGTGTGACGTTTCCGGGAGAACTAT ACGCGATGTGTCTGGGTTGGGTGAGTGTGGGGTTCCCGGGAGAACTATGT GCGGTGTGTCTGGGTTGGGTGAGTGTGGGGTTTCCGGGAGAACTATGCGC GATGTGTCTGGGTTGGGTGAGTGTGGGGTTTCCGGGAGAACTATGCGCGA TGTGTCTGGGTGCGTGTGGGGTTTCCGGGAGAACTATGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DNTTIP1_chr20_45786954_45816418	45799810	T T	TAAAAGAA others(458): Show TAAAAGAAAAACAGCTCTCTCCGGTCCGTGCCTCCAAGATGACAAAGAAA AGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTAT TCGTTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGA AATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCT GAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAAGCT ACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGAT CTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCG GGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTT AAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATTGTA CTTAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01106.hp2 others(5): Show HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp1 HG02698.hp1 HG03688.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0174 others(3): Show a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0207 a0001c0001t0002g0208	8	412	0.0194	465	c.373 others(482): Show c.373-1250_373-1249insTCTCTCCGGTCCGTGCCTCCAAGATGAC AAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGC AGCCTATTCGTTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCC ATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGA CATTTCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATG TGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGG AATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAG ACCTGCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTG AGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGA AATTGTACTTAAAAAAAAAAAAAAAAAGAAAAACAGC	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(458): Show CCACCACCTCCACCATCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTCCATCACCA CCACCATCTTCACCAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0047 a0047	a0047c0048 a0047c0048	a0047c0048t0008 a0047c0048t0008	a0047c0048t0008g0012 a0047c0048t0008g0012	1	256	0.0039	465	c.323 others(482): Show c.3234+845_3234+846insTCCACCATCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CTCCTCCATCACCACCACCATCTTCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400247	C C	CCATCACC others(458): Show CCATCACCACCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCAGCATCTTCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCTCCTCCTTCACCATCACCATCACCACCATCACC TCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCAC CACCATCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCT CCACCACCACCTCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02145.hp2 others(4): Show HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2	a0013 a0014 a0019 others(2): Show a0013 a0014 a0019 a0020 a0046	a0013c0094 a0014c0018 a0014c0069 others(3): Show a0013c0094 a0014c0018 a0014c0069 a0019c0047 a0020c0151 a0046c0154	a0013c0094t0001 a0014c0018t0002 a0014c0069t0002 others(3): Show a0013c0094t0001 a0014c0018t0002 a0014c0069t0002 a0019c0047t0001 a0020c0151t0001 a0046c0154t0001	a0013c0094t0001g0095 a0014c0018t0002g0007 a0014c0018t0002g0011 others(4): Show a0013c0094t0001g0095 a0014c0018t0002g0007 a0014c0018t0002g0011 a0014c0069t0002g0008 a0019c0047t0001g0022 a0020c0151t0001g0179 a0046c0154t0001g0171	7	256	0.0273	465	c.323 others(482): Show c.3234+990_3234+991insTCACCACCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTC CACCATCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCACCACCTCCTCCTTCACCAT CACCATCACCACCATCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCATCACCTCCACCATCACCACCTCCTTC ACCATCACCACCACCACCTCCACCACCACCTCCTTCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400604	A A	ACCACCAC others(458): Show ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCA TCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC TCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACT TCCACCACCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCACCATCACCACCA CCACCACCACCTCCACCACCACCACCACGTCCACCACCACCACCATCACC ACCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0186 a0006c0025t0001g0186	1	256	0.0039	465	c.323 others(484): Show c.3234+1353_3234+1354insTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC TCCACCACCAGCACTTCCACCACCACCATCACCACCACCTCCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCATCACCACCACCACCACCACCTCCACCACCACCACCACGTCCACC ACCACCACCATCACCACCACCACCACCACCTCCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634876	C C	CTCCTTTC others(458): Show CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	250	0.0040	465	c.105 others(482): Show c.105-1032_105-1031insTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
EHMT1_chr9_137614005_137841127	137716115	T T	TGGGGGAG others(458): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0021 a0001c0002 a0006c0021	a0001c0002t0001 a0006c0021t0001 a0001c0002t0001 a0006c0021t0001	a0001c0002t0001g0003 a0001c0002t0001g0017 a0006c0021t0001g0016 a0001c0002t0001g0003 a0001c0002t0001g0017 a0006c0021t0001g0016	3	170	0.0177	465	c.86- others(478): Show c.86-466_86-465insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGGTGTCGTGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716419	T T	TTGGTGTC others(458): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGAGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGG AAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0167 a0011c0031t0001g0167	1	170	0.0059	465	c.86- others(478): Show c.86-179_86-178insGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGAGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAAGTTGTGTTG GTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946605	T T	TATATGAA others(458): Show TATATGAATAAAAATATATAAAAATATATACATATATAAATATAAATATA TAATATATAAATATATAAATATATAAATATATAAATATAAATATATAAAA ATATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATAT ATAAATATATAAATATATAAATATATAAAAATATATAAATATATAAATAT ATAAAAATATATAAATACATAAATATATAAATATATAAATATATATACAT AAATATATAAATATATAAATATATAAATATATAAATATATAAATACATAA TATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAA AATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATA CACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAA TATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01516.hp1 others(5): Show HG00597.hp2 HG00609.hp2 HG01516.hp1 HG01517.hp1 HG02683.hp1 HG02738.hp2 HG04228.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0001g0268 others(5): Show a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0004c0005t0001g0255 a0004c0005t0001g0256	8	344	0.0233	465	c.617 others(482): Show c.617-1470_617-1469insTTATATATAATATATATTTATATATTTT TATATATATTTATATATTTTTATATATATTTATATGTGTATATATTTTTT ATATATTTTTATATATTTATATATTTTTTATATATATTTTTATATTTTTA ATATATTTTATATATTATATATATTTTATATTTATATATTATGTATTTAT ATATTTATATATTTATATATTTATATATTTATATATTTATGTATATATAT TTATATATTTATATATTTATGTATTTATATATTTTTATATATTTATATAT TTATATATTTTTATATATTTATATATTTATATATTTATATATATTTATAT ATTTTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTT ATATTTATATATTTATATATTTATATATTTATATATTATATATTTATATT TATATATGTATATATTTTTATATATTTTTATTCATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(458): Show ATATATTTATATAAATATATAAATAATTTATATATTTATATAAATATATT TATATAAATGTATAAATATATTTATATAAATGTATAAATATATTTATATA AATGTATAAATATATTTATATAAATGTATAAATATATTTATATAAATATA TAAATATAAATATATTTATATAAATATATAAATATAAATATATAAATATA AATATATAAATATAAATATATAAATATAAATATATTTATATAAATATATA AATATATTAATATAAATATATTTATATAAATATATTAATATAAATATATT TATATAAATATATAAATATATAAATATAAATATATTTATATAAATATATA AATATATAATATAAATATATTTATATTATATATTTATATAAATATATAAT ATAAATATATTTATATTATATATTTATATAAATATGTTTATATAAATATA TAAATATAAATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	46	0.0217	465	c.279 others(484): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAACATATTTATATAAATATATAATATAAATATATTTATATTATATATT TATATAAATATATAATATAAATATATTTATATTATATATTTATATATTTA TATAAATATATTTATATTTATATATTTATATATTTATATAAATATATTTA TATTAATATATTTATATAAATATATTTATATTAATATATTTATATATTTA TATAAATATATTTATATTTATATATTTATATTTATATATTTATATTTATA TATTTATATTTATATATTTATATAAATATATTTATATTTATATATTTATA TAAATATATTTATACATTTATATAAATATATTTATACATTTATATAAATA TATTTATACATTTATATAAATATATTTATACATTTATATAAATATATTTA TATAAATATATAAATTATTTATATATTTATATAAATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAATGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTG GGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03209.hp1 HG03098.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	460	0.0044	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTCACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTG GGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA20129.hp2 HG01891.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	460	0.0044	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTCAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTG GGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0010 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0004g0001 a0001c0001t0005g0003 a0001c0001t0005g0014 a0001c0002t0010g0001 a0001c0003t0002g0002	240	460	0.5217	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATGAAAATTAGCTG GGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	460	0.0022	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TATGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCCG GGCGTGGTGGCGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA19091.hp1 NA18982.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	460	0.0044	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCCGGGCGTGGTGGCGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTG GGTGTGGTCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	460	0.0022	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCTGGGTGTGGTCGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACC TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTG GGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(193): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0005g0003 a0001c0001t0006g0001 a0001c0001t0007g0003 a0001c0001t0008g0001 a0001c0001t0009g0004 a0001c0001t0011g0001	196	460	0.4261	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(458): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACT TCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACT AAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAA TGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACT TTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTG GGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	465	c.33 others(476): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCA GGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTC ACTGCAGCCTCGACTTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCC TGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTAC TTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACA GGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805244	A A	ACCCTCCC others(458): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	314	0.0032	465	c.10 others(476): Show c.1078_*1079insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		958		chr2	TogoVar
GPIHBP1_chr8_143208218_143222170	143218085	C C	CCCCCACA others(458): Show CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCA ACACCACCCCCAACACCACCCAACACCACCCCCAACACCACCCAACACCA CCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCACACCACCCCCAACACCATCCCCAACACCACC CCCAACACCACCCCAACACCATCCCCAACACCACCCCCAACACCATCCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	465	c.25 others(476): Show c.2567_*2568insCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCATCCCCAACACCACCCCCAACACCACCCAACACCACCCCCAA CACCACCCAACACCACCCCACACCACCCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACC ATCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAACACCACC CCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		916		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(458): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATA TAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATATAAA TCTATATATATAAATATAGATTTATATATATTTATATATAAATAACTATA AATATAGATTTATATATATTTATATATAAATAACTATAATATAGATTTAT ATATATTTATATATAAATAACTATATAGATTTATATATATTTATATATAA ATAACTATATAGATTTATATATATTTATATATAAATAACTATAGTAGATT TATATATATTTATATATAAATAACTATAATTAGATTTTATATATATTTAT TTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	208	0.0048	465	c.-97 others(482): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATAAATATATATAAATCTATATTTATAGTTATTTA TATATAAATATATAAATCTATATATATAAATATAGATTTATATATATTTA TATATAAATAACTATAAATATAGATTTATATATATTTATATATAAATAAC TATAATATAGATTTATATATATTTATATATAAATAACTATATAGATTTAT ATATATTTATATATAAATAACTATATAGATTTATATATATTTATATATAA ATAACTATAGTAGATTTATATATATTTATATATAAATAACTATAATTAGA TTTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(458): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATA TATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTA TATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAA TACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0047	1	168	0.0060	465	c.132 others(484): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAATATATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(458): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG CAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC ACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	155	0.0065	465	c.488 others(480): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG TGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC AGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar

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