Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNG1C_chr9_68236983_68305035	68301572	C C	CCACTGCA others(162): Show CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCCCAGATAAAT AAACCAACCAAATTAGCTGCGCGTGGTGGCGGGCGCCTGTAGTCCCAACT ACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGGTCCTAGATTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0186 a0001c0009t0007g0186	1	322	0.0031	169	c.19 others(180): Show c.1985_*1986insCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCTTCCCAGATAAATAAACCAACCAAATTAGCTGCGCGTGGTGGCGGGCG CCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGGTCCTAGATTGTGT	ZNG1C	ENSG00000196873.16	transcript	ENST00000360171.11	protein_coding		1538		chr9	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTATATAT others(162): Show TTATATATATATAAATATATATATATTTATATATATAAATATATATATTT ATATATATATAAATATATATATTTATATATATAAATATATATTTATATAT AAATATATATTTATATATATATAAATATATTTTATATATAAATATATATA TATTTATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	400	0.0025	169	c.532 others(184): Show c.532+446_532+447insTATTTATATATATATAAATATATATATATT TATATATAAAATATATTTATATATATATAAATATATATTTATATATAAAT ATATATTTATATATATAAATATATATATTTATATATATATAAATATATAT ATTTATATATATAAATATATATATATTTATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTATATAT others(162): Show TTATATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATATATAAATATATATATATTTATATATATAAATATATATTTATATAT AAATATATATTTATATATATATAAATATATTTTATATATAAATATATATA TATTTATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0107 a0002c0002t0002g0102 a0002c0002t0002g0107	2	400	0.0050	169	c.532 others(184): Show c.532+446_532+447insTATTTATATATATATAAATATATATATATT TATATATAAAATATATTTATATATATATAAATATATATTTATATATAAAT ATATATTTATATATATAAATATATATATATTTATATATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN5A_chr19_56216303_56319839	56302581	C C	CTCCCTCC others(162): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCCCTCTT CCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTCCCCCCTTCCTTTTCT TCCTCCCCCTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTT CCTTTTCTTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	362	0.0028	169	c.-12 others(190): Show c.-128+10701_-128+10702insAAGGGGGGAGGAAGAAAAGGAAGG GAGGAGGAGGGAGGGAGGAAGAGGGAGAGGAAGAAGAGGGGGAGGAAGAA AAGGAAGGGGGGAGGAAGAAAAGGAAGGGAGGAGGAGGGAGGGAGGAAGA GGGAGAGGAAGAAAAGGGGGAGGAAGAAAAGGAAGGGGGGAGGGA	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATACACAC others(163): Show ATACACACACATATGTGTATATACACATATACACACATATGTGTATATAC ACATATACACACATATGTGTATATACACATATACACACATATGTGTATAT ACACATATACACACATATGTGTATATACACATATACACACATATGTGTAT ATACACATATACACACATGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	336	0.0060	170	c.209 others(189): Show c.2094+1383_2094+1384insCACACACATATGTGTATATACACATA TACACACATATGTGTATATACACATATACACACATATGTGTATATACACA TATACACACATATGTGTATATACACATATACACACATATGTGTATATACA CATATACACACATATGTGTATATACACATATACACACATGTGTA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1062189	A A	ACTTGTTA others(163): Show ACTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTT ACGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTGTTATGTGAA CTGAGGGCTATGCGTGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGG CTATGCATGTTCCTCTAGACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp1 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0118 a0001c0001t0008g0020 a0001c0001t0006g0118 a0001c0001t0008g0020	2	337	0.0059	170	c.118 others(189): Show c.1183-3323_1183-3322insCGTCTAGAGGAACATGCATAGCCCTC AGTTCACGTAACAACAGTGTCTAGAGGAACACGCATAGCCCTCAGTTCAC ATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCAGTTCACGTAACAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288997	T T	TCCCGTGT others(163): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	295	0.0034	170	c.45 others(181): Show c.4566_*4567insGGACGGAGCAGGGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGG ACGGAGCAGACACGGGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3393		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCT others(163): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCAT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	295	0.0034	170	c.38 others(181): Show c.3816_*3817insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACATGGGACGGGGCA GAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(163): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	170	c.34 others(181): Show c.3435_*3436insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGAATGGAGCA GAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735866	T T	TGCGGGCG others(163): Show TGCGGGCGGGGCGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGGGCGGG GCGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTC TGGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCG GGGCGGGCGGGGCGGGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0095 a0001c0004t0005g0095	1	314	0.0032	170	c.64 others(181): Show c.6434_*6435insGCGGGCGGGGCGGGGGTTCTGCGGGCGGGGCGGG GGTTCTGGGGGCGGGGCGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGG GCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGG CGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4278		chr19	TogoVar
ADAM9_chr8_38991973_39110261	39045384	A A	ACGTGTGT others(163): Show ACGTGTGTGTACACACACCTATACGTGTGTGTACACACACCTATAGGTGT GTGTACACACACCTATAGGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	332	0.0030	170	c.130 others(189): Show c.1302+3267_1302+3268insCGTGTGTGTACACACACCTATACGTG TGTGTACACACACCTATAGGTGTGTGTACACACACCTATAGGTGTGTGTA CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAMTS14_chr10_70667506_70767441	70688906	A A	AGGGAGAG others(163): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0045 a0001c0058t0045	a0001c0058t0045g0343 a0001c0058t0045g0343	1	354	0.0028	170	c.523 others(189): Show c.523-13405_523-13404insGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGA others(163): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0126 a0002c0016t0001g0126	1	274	0.0037	170	c.170 others(189): Show c.1700+4217_1700+4218insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAP1_chr7_892900_959680	906414	G G	GAGAAAGG others(163): Show GAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGGGAAAGGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAG AAAGGGAAAGGAGAAAGGGGAAAGGGGAAAGGGGAAAGGAGAAAGGAGAA AGGAGAAAGGAGAAAGGGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	170	c.389 others(187): Show c.389-1243_389-1242insTTTCCCTTTCTCCTTTCTCCTTTCTCCT TTCTCCTTTCCCCTTTCCCCTTTCCCCTTTCTCCTTTCCCTTTCTCCTTT CTCCTTTCTCCTTTCTCCTTTCCCCTTTCCCCTTTCTCCTTTCTCCTTTC TCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1460897	A A	ACAAACCT others(163): Show ACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGA CCTGAGTTTACCTGCGTTACGAACCTGCCTGTGACCTGAGTTTACCTGCG TTACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGCCTGT GACCTGAGTTTACCTGTGTAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	106	0.0094	170	c.101 others(189): Show c.101-81738_101-81737insCTACACAGGTAAACTCAGGTCACAGG CAGGTTTGCTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTAACGCAG GTAAACTCAGGTCACAGGCAGGTTCGTAACGCAGGTAAACTCAGGTCACA GGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142501503	T T	TTGTGTGG others(163): Show TTGTGTGGTTTTGACGATGGAGGTGGGGTGGTGGTGGTGATGATGGGGTG GTGGTAGTGATGACTGTGTGGTTTTGACGATGGAGGTGGGGTGGTGGTGG TGATGGTGATGTGGTGGTGGTGGTGATGGTGGTGGCGGTGATGGCGATGG TGGGGTGGTGGTAGTGATGAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	310	0.0032	170	c.267 others(189): Show c.2676-9388_2676-9387insATGGGGTGGTGGTAGTGATGACTGTG TGGTTTTGACGATGGAGGTGGGGTGGTGGTGGTGATGGTGATGTGGTGGT GGTGGTGATGGTGGTGGCGGTGATGGCGATGGTGGGGTGGTGGTAGTGAT GACTGTGTGGTTTTGACGATGGAGGTGGGGTGGTGGTGGTGATG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRG3_chr16_57663306_57694378	57680095	C C	CTCACCTC others(163): Show CTCACCTCCCCTTCCTCCTCCCCTCCCTTCCCTATATTCCCTTCCCCTCT GTTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCTATATTCCC TTCCCCTCTGTTCACCTCCTCTCCCCTCCCTTACCCTCCCCTCCCTATAT TCCCTTCCCCTCTGTTCCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0308 a0004c0010t0003g0308	1	448	0.0022	170	c.668 others(185): Show c.668-170_668-169insTCACCTCCCCTTCCTCCTCCCCTCCCTTCC CTATATTCCCTTCCCCTCTGTTCCCCTCCCCTCCCCTCCCCTCTCCTCTC CTCCCCTCCCTATATTCCCTTCCCCTCTGTTCACCTCCTCTCCCCTCCCT TACCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCCCCT	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	6/11			chr16	TogoVar
ADGRV1_chr5_90553797_91169437	90702007	T T	TGAAAACC others(163): Show TGAAAACCATGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0095 a0001c0017t0004g0099 a0001c0017t0004g0095 a0001c0017t0004g0099	2	158	0.0127	170	c.815 others(189): Show c.8156-1648_8156-1647insCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACCATG	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	34/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(163): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGG GGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTC CCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG01109.hp2 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0017 a0001c0007 a0002c0017	a0001c0007t0005 a0002c0017t0005 a0001c0007t0005 a0002c0017t0005	a0001c0007t0005g0273 a0002c0017t0005g0285 a0001c0007t0005g0273 a0002c0017t0005g0285	2	326	0.0061	170	c.62 others(181): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGA GGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGA CAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976475	G G	GGGTCATT others(163): Show GGGTCATTCCCCCTGCAGTGTGCGGGGAGGAGGAGGCAGTGGGGGTCATT CCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTGGGGGTCATTCCCCCTGC AGTGTGTGGGGAAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGG GGGGGAGGAGAAGACAGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	326	0.0031	170	c.65 others(181): Show c.6540_*6541insGGTCATTCCCCCTGCAGTGTGCGGGGAGGAGGAG GCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTGGG GGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGGAGGCAGTGGGGGTCATT CCCCCTGCAGTGTGGGGGGGAGGAGAAGACAGTGGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4453		chr6	TogoVar
AGAP1_chr2_235489043_236136793	235536142	T T	TACACACA others(163): Show TACACACACACACACACACACACACACACACACACACACAGCAGGACCCT GGGGTTTGTGTGTGGCATCCTACACACACACACACACACACAGCAGGACC CCGGGGTTTGTGTGTGGCATCCTACACACACACACAGCAGGACCCTGGGG TTTGTGTGTGGCATCCTACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0022 a0002c0020t0001g0022	1	98	0.0102	170	c.163 others(189): Show c.163+41330_163+41331insCAGCAGGACCCTGGGGTTTGTGTGTG GCATCCTACACACACACACACACACACAGCAGGACCCCGGGGTTTGTGTG TGGCATCCTACACACACACACAGCAGGACCCTGGGGTTTGTGTGTGGCAT CCTACACACACACACACACACACACACACACACACACACACACA	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104933637	C C	CGGGGAGG others(163): Show CGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGG GGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGACCCGGGGCTGAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(89): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp2 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0006 a0009 a0010 others(61): Show a0006 a0009 a0010 a0015 a0017 a0018 a0019 a0020 a0027 a0032 a0034 a0035 a0044 a0046 a0053 a0057 a0066 a0067 a0069 a0070 a0072 a0074 a0077 a0079 a0080 a0082 a0083 a0084 a0086 a0087 a0088 a0089 a0090 a0093 a0094 a0095 a0096 a0097 a0102 a0103 a0105 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0144 a0149 a0157 a0169 a0170 a0173 a0179 a0180 a0182 a0183 a0195 a0196 a0207 a0208 a0210 a0211	a0006c0006 a0006c0200 a0009c0043 others(67): Show a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0015c0035 a0015c0122 a0015c0125 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0027c0189 a0027c0190 a0032c0050 a0034c0048 a0035c0023 a0044c0049 a0046c0032 a0053c0246 a0057c0156 a0066c0202 a0067c0058 a0069c0184 a0070c0170 a0072c0178 a0074c0179 a0077c0182 a0079c0183 a0080c0180 a0082c0174 a0083c0176 a0084c0181 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0102c0064 a0103c0065 a0105c0211 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0144c0238 a0149c0086 a0157c0080 a0169c0237 a0170c0105 a0173c0114 a0179c0121 a0180c0120 a0182c0128 a0183c0130 a0195c0243 a0196c0207 a0207c0206 a0208c0056 a0210c0055 a0211c0247	a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 others(67): Show a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0027c0189t0002 a0027c0190t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0044c0049t0003 a0046c0032t0002 a0053c0246t0002 a0057c0156t0010 a0066c0202t0005 a0067c0058t0002 a0069c0184t0002 a0070c0170t0002 a0072c0178t0002 a0074c0179t0003 a0077c0182t0003 a0079c0183t0003 a0080c0180t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0102c0064t0003 a0103c0065t0003 a0105c0211t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0144c0238t0003 a0149c0086t0002 a0157c0080t0003 a0169c0237t0003 a0170c0105t0002 a0173c0114t0002 a0179c0121t0002 a0180c0120t0002 a0182c0128t0002 a0183c0130t0002 a0195c0243t0003 a0196c0207t0002 a0207c0206t0002 a0208c0056t0003 a0210c0055t0003 a0211c0247t0002	a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0200t0002g0199 others(76): Show a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0027c0189t0002g0227 a0027c0190t0002g0228 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0044c0049t0003g0131 a0044c0049t0003g0133 a0046c0032t0002g0019 a0053c0246t0002g0074 a0057c0156t0010g0046 a0066c0202t0005g0203 a0067c0058t0002g0302 a0069c0184t0002g0209 a0070c0170t0002g0246 a0072c0178t0002g0298 a0074c0179t0003g0297 a0077c0182t0003g0170 a0079c0183t0003g0164 a0080c0180t0002g0181 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0102c0064t0003g0157 a0103c0065t0003g0156 a0105c0211t0002g0061 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0144c0238t0003g0070 a0149c0086t0002g0081 a0157c0080t0003g0121 a0169c0237t0003g0139 a0170c0105t0002g0076 a0173c0114t0002g0288 a0179c0121t0002g0101 a0180c0120t0002g0279 a0182c0128t0002g0269 a0183c0130t0002g0105 a0195c0243t0003g0148 a0196c0207t0002g0153 a0207c0206t0002g0223 a0208c0056t0003g0115 a0210c0055t0003g0114 a0211c0247t0002g0206	92	356	0.2584	170	c.44 others(181): Show c.4425_*4426insTCACTCAGCCCCGGGTCCCCTCCCGCCCTCCCCG TCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCT CCCCTCCCGCCCTCCCCGTCCCCTCAGCCGCGGGTCCCCTCCCGCCCTCC CCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3615		chr14	TogoVar
AHRR_chr5_316714_443285	415308	T T	TGGGAGGC others(163): Show TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGG GCCGAATCTCCCTGGTCGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0180 a0003c0004t0004g0180	1	268	0.0037	170	c.441 others(187): Show c.441+1893_441+1894insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415342	C C	CGGGAGGC others(163): Show CGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0213 a0002c0002t0011g0213	1	268	0.0037	170	c.441 others(187): Show c.441+1927_441+1928insATCTGCCTGGTCTGCTGGGAGGCCTAGG GGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415648	C C	CGGGAGGC others(163): Show CGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGC CGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGG GCCGAATCTCCCTGGTCTGCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	268	0.0037	170	c.441 others(187): Show c.441+2233_441+2234insGTCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTA GGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(163): Show TATACATATATAAATATATATATACATATATAAATATATATACATATATA AATATATATATGCATATATAAATATATATACATATATAAATATATATATA CATATATAAATATATATATAAATATATATATACATATATAAATATATATA CATATATAAATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0445 a0001c0001t0079g0445	1	462	0.0022	170	c.151 others(187): Show c.151+5682_151+5683insGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATATATTTATATATGTATATAT ATATTTATATATGTATATATATTTATATATGCATATATATATTTATATAT GTATATATATTTATATATGTATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(163): Show AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TATACATATATAAATATATATACATATATAAATATATATATACATATATA AATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	462	0.0022	170	c.151 others(187): Show c.151+5564_151+5565insATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATATTTATATATGTATATATATAT TTATATATGTATATATATTTATATATGTATATATATTTATATATGTATAT ATATTTATATATGTATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTATATA others(163): Show TGTATATATATACGTATATATATACGTATATATGTATATATATACGTATA TATATACGTATATATGTATATATATACGTATATATATACGTATATATGTA TATATATACGTATATATATACGTATATATGTACATATATACGTATATATA TACGTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0047 a0001c0048t0001g0047	1	80	0.0125	170	c.393 others(189): Show c.3939-3085_3939-3084insGTATATATACATATATACGTATATAT ATACGTATATATGTACATATATACGTATATATATACGTATATATATACAT ATATACGTATATATATACGTATATATATACATATATACGTATATATATAC GTATATATATACATATATACGTATATATATACGTATATATATAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTATATA others(163): Show TGTATATATATACGTATATATATACGTATATATGTATATATATACGTATA TATATACGTATATATGTATATATATACGTATATATATACGTATATATGTA TATATATACGTATATATATACGTATATATGTATATATATACGTATATATA TACGTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03041.hp1 HG00140.hp1 HG03041.hp1	a0001 a0001	a0001c0017 a0001c0033 a0001c0017 a0001c0033	a0001c0017t0001 a0001c0033t0001 a0001c0017t0001 a0001c0033t0001	a0001c0017t0001g0012 a0001c0033t0001g0029 a0001c0017t0001g0012 a0001c0033t0001g0029	2	80	0.0250	170	c.393 others(189): Show c.3939-3085_3939-3084insGTATATATACATATATACGTATATAT ATACGTATATATATACATATATACGTATATATATACGTATATATATACAT ATATACGTATATATATACGTATATATATACATATATACGTATATATATAC GTATATATATACATATATACGTATATATATACGTATATATATAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(163): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	370	0.0027	170	c.-10 others(191): Show c.-105+17529_-105+17530insTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89306238	G G	GCCACCTA others(163): Show GCCACCTACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCCCTCCGC AGACACGTGCCACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACT CCGCAGACACGCGCCACTTACCTCCCACTCCGCAGACACGCGCCACCTCC CACTCCGCAGACACGCGCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	310	0.0032	170	c.88- others(183): Show c.88-895_88-894insGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGC GTGTCTGCGGAGTGGGAGGTAAGTGGCGCGTGTCTGCGGAGTGGGAGGTA GGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCACGTGTCTGCGGAGGGGGA GGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTAGGTGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306238	G G	GCCACCTA others(163): Show GCCACCTACCTCCCCCTCCGCAGACACGCGCCACCTACCTCCCCCTCCGC AGACACGTGCCACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACT CCGCAGACACGCGCCACTTACCTCCCACTCCGCAGACACGCGCCACCTCC CACTCCGCAGACACGCGCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02886.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277	3	310	0.0097	170	c.88- others(183): Show c.88-895_88-894insGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGC GTGTCTGCGGAGTGGGAGGTAAGTGGCGCGTGTCTGCGGAGTGGGAGGTA GGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCACGTGTCTGCGGAGGGGGA GGTAGGTGGCGCGTGTCTGCGGAGGGGGAGGTAGGTGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKS1B_chr12_98738974_99989936	99387860	T T	TAAGAATT others(163): Show TAAGAATTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp2 HG02258.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0018 a0001c0001t0003g0020	2	48	0.0417	170	c.175 others(191): Show c.1756+11770_1756+11771insGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACAATTCTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
AOC2_chr17_42839580_42855707	42848524	A A	AATATATA others(163): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATACG TATATATATATATACATGTATATATATATATATGTATATATATATATATA CATGTATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	290	0.0035	170	c.158 others(187): Show c.1589-551_1589-550insCATATATATATATATATGTATATATATA TATATACATGTATATATATATATGTATATATATATATATACATGTATATA TATATATACGTATATATATATATACATGTATATATATATATATGTATATA TATATATATACATGTATATATATATATATGTATATATATATA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848524	A A	AATATATA others(163): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATACG TATATATATATATACATGTATATATATATATATGTATATATATATATATA CATGTATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	284	0.0035	170	c.-28 others(181): Show c.-2820_-2819insATATATATATACATATATATATATATATGTATAT ATATATATATACATGTATATATATATATGTATATATATATATATACATGT ATATATATATATACGTATATATATATATACATGTATATATATATATATGT ATATATATATATATACATGTATATATATATATATGT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2674		chr17	TogoVar
APOA4_chr11_116815700_116828304	116818483	T T	TATATATG others(163): Show TATATATGAATATATATATGAATTATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATTATATATGAATATATATATG AATATATATGAATATATATATGAATTATATATGAATATATATATGAATAT ATATATGAATATATATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	462	0.0043	170	c.23 others(181): Show c.2383_*2384insTATTCATATATATTCATATATATATTCATATATA TATTCATATATAATTCATATATATATTCATATATATTCATATATATATTC ATATATAATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATAATTCATATATATATTCATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2216		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144531174	T T	TGAAGGGC others(163): Show TGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	246	0.0041	170	c.298 others(187): Show c.2981-304_2981-303insTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531427	G G	GGAGCAGC others(163): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18969.hp2 NA19000.hp2 HG02129.hp1 NA18969.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0065 a0001c0001t0001g0210 a0001c0001t0015g0180 a0001c0001t0001g0065 a0001c0001t0001g0210 a0001c0001t0015g0180	3	246	0.0122	170	c.298 others(187): Show c.2981-557_2981-556insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198330	G G	GGGGAGGG others(163): Show GGGGAGGGGGACGGGAGGGGAGGGGGAGGGGAGGGGGACGGGAGGGGGAC GGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGAGG GGGAGGGGACAGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	216	0.0046	170	c.311 others(187): Show c.311-1342_311-1341insATCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCTGTCCCCTCCCCCTCCCC TCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCCC TCCCGTCCCCCTCCCCTCCCCCTCCCCTCCCGTCCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198330	G G	GGGGAGGG others(163): Show GGGGAGGGGGACGGGAGGGGAGGGGGAGGGGAGGGGGACGGGAGGGGGAC GGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGAGG GGGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02559.hp2 others(19): Show HG00438.hp2 HG02040.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp1 NA18943.hp1 NA18951.hp2 NA18959.hp2 NA18971.hp2 NA18975.hp1 NA19057.hp1 NA19077.hp2 NA19090.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0005c0004t0005	a0002c0002t0001g0004 a0002c0002t0001g0165 a0002c0002t0001g0167 others(19): Show a0002c0002t0001g0004 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0204 a0002c0002t0002g0175 a0002c0002t0006g0170 a0002c0002t0006g0191 a0005c0004t0005g0189 a0005c0004t0005g0198	22	216	0.1019	170	c.311 others(187): Show c.311-1342_311-1341insATCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCTCCCC TCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCCC TCCCGTCCCCCTCCCCTCCCCCTCCCCTCCCGTCCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198330	G G	GGGGAGGG others(163): Show GGGGAGGGGGACGGGAGGGGGACGGGGAGGGGACGGGGAGGGGAGGGGGA CGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGAGG GGGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03130.hp2 others(2): Show HG02257.hp2 HG02486.hp2 HG03130.hp2 HG06807.hp1 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0002c0002t0007 a0003c0003t0002 a0002c0002t0004 a0002c0002t0007 a0003c0003t0002	a0002c0002t0004g0199 a0002c0002t0004g0201 a0002c0002t0004g0205 others(2): Show a0002c0002t0004g0199 a0002c0002t0004g0201 a0002c0002t0004g0205 a0002c0002t0007g0203 a0003c0003t0002g0001	5	216	0.0232	170	c.311 others(187): Show c.311-1342_311-1341insATCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCTCCCC TCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCGTCCCCCT CCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCGTCCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(163): Show TTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCT CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTTTCTCT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	122	0.0082	170	c.77- others(185): Show c.77-3238_77-3237insTTTCTTTCTTTCCCTCCCTCCCTCCCTCCC TCCCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTC TCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(163): Show TTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCT CTCTCTCTCTCTCTTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTCTTTCT TTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0052 a0001c0002t0029g0052	1	122	0.0082	170	c.77- others(185): Show c.77-3238_77-3237insTTTCTTTCTTTCTTTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTTTCTC TCTTTCTCTCTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TATATTTA others(163): Show TATATTTATATATGATATATATCATATATATTTATATATGATATATATCA TATATATTTATATATGATATATATCATATATATTTATATATGATATATAT CATATATATTTATATATGATATATATCATATTTATATATGATATATATCA TATTTATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	254	0.0039	170	c.29- others(187): Show c.29-11774_29-11773insGATATATATCATATATAAATATGATATA TATCATATATAAATATGATATATATCATATATAAATATATATGATATATA TCATATATAAATATATATGATATATATCATATATAAATATATATGATATA TATCATATATAAATATATATGATATATATCATATATAAATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79356834	A A	ACCCTGTG others(163): Show ACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGT CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTG GGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTC TGGAGGTGTCTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18970.hp1 NA19007.hp2 NA18945.hp1 NA18970.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0212 a0002c0002t0002g0228 a0002c0002t0002g0200 a0002c0002t0002g0212 a0002c0002t0002g0228	3	298	0.0101	170	c.290 others(189): Show c.2904-2520_2904-2519insCCCTGTGTGAGGGGTGCTCTGGGTCT GGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGG GACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACC CTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79356946	C C	CCTGTGTG others(163): Show CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTG TGTGAGGGGTGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGG GTGCTCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	298	0.0034	170	c.290 others(189): Show c.2904-2397_2904-2396insGTGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGAC CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357320	T T	TCTGGGTC others(163): Show TCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAG GGACCCTGTGTGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	170	c.290 others(189): Show c.2904-2017_2904-2016insCGTGTGAGGGACCCTGTGTGAGGGAT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTG TGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357460	T T	TCTGTGTG others(163): Show TCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTG TGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTG AGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTA GAGGTGTCCGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	298	0.0034	170	c.290 others(189): Show c.2904-1880_2904-1879insTCCTGGGTCTGGAGGTGTCCGTGTGA GGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGA CCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTC CTGGGTCTAGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357554	C C	CCTGGGTC others(163): Show CCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTG GGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTC TGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAA GGACCCTGTGTGAGGGATGCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18942.hp2 NA19002.hp1 others(3): Show HG00609.hp2 NA18942.hp2 NA19002.hp1 NA19004.hp1 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085	6	298	0.0201	170	c.290 others(189): Show c.2904-1783_2904-1782insTGTGTGAGGGACCCTGTGTGAGGGGT GCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTC TGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCG TGTGAAGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357554	C C	CCTGGGTC others(163): Show CCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTG GGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTC TGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGATGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(68): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19077.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0013	a0001c0001 a0001c0010 a0001c0015 others(7): Show a0001c0001 a0001c0010 a0001c0015 a0001c0025 a0001c0026 a0001c0038 a0002c0005 a0005c0016 a0008c0030 a0013c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0010t0001 a0001c0015t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0002c0005t0001 a0005c0016t0001 a0008c0030t0001 a0013c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0010t0001g0296 a0001c0015t0001g0130 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0038t0001g0265 a0002c0005t0001g0179 a0002c0005t0001g0202 a0002c0005t0001g0242 a0005c0016t0001g0169 a0008c0030t0001g0254 a0013c0023t0001g0042	71	298	0.2383	170	c.290 others(189): Show c.2904-1783_2904-1782insTGTGTGAGGGACCCTGTGTGAGGGGT GCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTC TGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCG TGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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