Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A1CF_chr10_50794409_50890627	50872946	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01516.hp2 HG02523.hp1 others(12): Show HG00438.hp1 HG01516.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG04199.hp1 NA18948.hp1 NA18969.hp2 NA18974.hp1 NA18994.hp1 NA19002.hp1 NA19009.hp1 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0268 a0001c0001t0003g0035 a0001c0001t0003g0038 others(9): Show a0001c0001t0001g0268 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0253 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0005g0254 a0001c0001t0005g0265 a0001c0001t0005g0267 a0001c0001t0022g0266	15	122	0.1230	-14	c.-93 others(31): Show c.-93-8880_-93-8867delAAAAAAAAAAAAAA	A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	1/12			chr10	TogoVar
A4GALT_chr22_42687121_42725870	42714274	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19043.hp1 HG03225.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0282 a0002c0003t0001g0283	2	125	0.0160	-14	c.-18 others(33): Show c.-188+6509_-188+6522delTTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AACS_chr12_125060435_125148316	125094978	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03195.hp1 others(5): Show HG02055.hp2 HG02486.hp1 HG03195.hp1 HG03834.hp1 NA18906.hp1 NA18962.hp2 NA18971.hp1 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0024 a0001c0001 a0001c0003 a0007c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0007c0024t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0078 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0078 a0001c0001t0002g0047 a0001c0001t0005g0066 a0001c0003t0001g0223 a0001c0003t0001g0224 a0007c0024t0001g0261	8	16	0.5000	-14	c.570 others(31): Show c.570+3488_570+3501delGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125103987	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	17	0.0588	-14	c.767 others(29): Show c.767+925_767+938delAAAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp1 others(25): Show HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01261.hp2 HG01358.hp1 HG01943.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02698.hp2 HG02738.hp2 HG03041.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp2 NA18986.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0002c0002t0001 a0002c0002t0005 a0002c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0031 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0259 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0304 a0001c0001t0001g0349 a0001c0001t0005g0055 a0001c0001t0006g0056 a0001c0001t0006g0077 a0001c0001t0006g0084 a0001c0001t0006g0092 a0001c0001t0006g0186 a0001c0001t0006g0199 a0001c0001t0006g0201 a0001c0001t0006g0234 a0001c0001t0006g0334 a0001c0003t0001g0352 a0002c0002t0001g0010 a0002c0002t0005g0096 a0002c0007t0001g0027	28	41	0.6829	-14	c.915 others(31): Show c.915+2969_915+2982delGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761204	GATATATA others(7): Show GATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02572.hp2 others(8): Show HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG03209.hp2 HG03942.hp1 HG04228.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0023	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0044 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0004g0053 a0001c0001t0005g0057 a0001c0001t0023g0147	11	79	0.1392	-14	c.36 others(25): Show c.3635_*3648delATATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3635	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADAT_chr4_170055222_170094956	170072211	CTGTGTGT others(7): Show CTGTGTGTGTGTATG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	376	0.0027	-14	c.654 others(29): Show c.654+911_654+924delCATACACACACACA	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	5/12			chr4	TogoVar
AAGAB_chr15_67195667_67259661	67216442	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	54	0.0185	-14	c.536 others(31): Show c.536-6912_536-6899delTTTTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222240	GCGCACAC others(7): Show GCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02559.hp2 others(6): Show HG02055.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0227 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236	9	286	0.0315	-14	c.535 others(31): Show c.535+9560_535+9573delTGTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69500690	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0018 a0002c0005t0018	a0002c0005t0018g0077 a0002c0005t0018g0077	1	248	0.0040	-14	c.227 others(33): Show c.2270-4624_2270-4611delGTGTGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69553437	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03041.hp2 HG01106.hp1 HG03041.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0010 a0001c0004 a0005c0010	a0001c0004t0017 a0005c0010t0009 a0001c0004t0017 a0005c0010t0009	a0001c0004t0017g0064 a0005c0010t0009g0153 a0001c0004t0017g0064 a0005c0010t0009g0153	2	61	0.0328	-14	c.282 others(31): Show c.282+3409_282+3422delAAAAAAAAAAAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	3/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69638733	ATCTGCTG others(7): Show ATCTGCTGGGCAATT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0079 a0003c0020t0079	a0003c0020t0079g0105 a0003c0020t0079g0105	1	296	0.0034	-14	c.163 others(31): Show c.163+4131_163+4144delAATTGCCCAGCAGA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77832951	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01074.hp1 others(8): Show HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01433.hp2 HG02572.hp1 HG02809.hp2 HG03710.hp1 NA18906.hp1 NA19004.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0138 others(8): Show a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0207	11	139	0.0791	-14	c.-18 others(31): Show c.-18-9494_-18-9481delGTGTGTGTGTGTGT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36232816	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp1 others(11): Show HG00738.hp2 HG01167.hp2 HG01169.hp1 HG02257.hp2 HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0079 a0001c0002t0002g0114 others(6): Show a0001c0002t0002g0007 a0001c0002t0002g0079 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0128 a0001c0002t0002g0130	14	161	0.0870	-14	c.-37 others(25): Show c.-3735_-3722delCTCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01070.hp2 others(24): Show HG00099.hp2 HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG02257.hp1 HG02300.hp1 HG03669.hp2 NA18612.hp1 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp2 NA18983.hp1 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19055.hp2 NA19062.hp1 NA19068.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0169 others(21): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0196 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0252 a0001c0002t0001g0260 a0001c0002t0001g0272 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0325	27	64	0.4219	-14	c.962 others(29): Show c.962+282_962+295delTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18954.hp2 NA18971.hp1 others(3): Show HG00597.hp2 NA18954.hp2 NA18971.hp1 NA18988.hp2 NA19057.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0133 a0001c0002t0001g0188 a0001c0002t0001g0218 others(3): Show a0001c0001t0001g0133 a0001c0002t0001g0188 a0001c0002t0001g0218 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0261	6	99	0.0606	-14	c.480 others(29): Show c.480-931_480-918delGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARSD1_chr17_42945526_42969454	42965994	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	40	0.0250	-14	c.-15 others(25): Show c.-1568_-1555delTTTTTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		1541		chr17	TogoVar
AATF_chr17_36943954_37061871	36968263	CTTCTTTC others(7): Show CTTCTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	240	0.0042	-14	c.832 others(33): Show c.832+14359_832+14372delCTTTCTTTTTTTTT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	36968266	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp1 others(14): Show HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 others(14): Show a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0003t0001g0091 a0001c0003t0004g0044 a0001c0003t0004g0047	17	179	0.0950	-14	c.832 others(33): Show c.832+14363_832+14376delCTTTTTTTTTTTTT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81164079	CCCAGCAC others(7): Show CCCAGCACCACCACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(92): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02965.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19082.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0014 a0021 a0034 a0035	a0001c0001 a0001c0004 a0001c0011 others(20): Show a0001c0001 a0001c0004 a0001c0011 a0001c0066 a0002c0002 a0002c0073 a0003c0003 a0003c0007 a0003c0009 a0003c0020 a0003c0023 a0003c0024 a0003c0045 a0004c0005 a0006c0012 a0006c0017 a0007c0008 a0011c0015 a0012c0016 a0014c0026 a0021c0063 a0034c0052 a0035c0038	a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 others(23): Show a0001c0001t0001 a0001c0004t0002 a0001c0011t0001 a0001c0066t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0016 a0002c0073t0006 a0003c0003t0001 a0003c0003t0002 a0003c0007t0001 a0003c0009t0001 a0003c0020t0001 a0003c0023t0001 a0003c0024t0001 a0003c0045t0002 a0004c0005t0001 a0006c0012t0001 a0006c0017t0002 a0007c0008t0001 a0011c0015t0007 a0012c0016t0001 a0014c0026t0001 a0021c0063t0001 a0034c0052t0001 a0035c0038t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(83): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0004t0002g0013 a0001c0004t0002g0128 a0001c0004t0002g0137 a0001c0011t0001g0195 a0001c0066t0001g0185 a0002c0002t0001g0011 a0002c0002t0001g0114 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0158 a0002c0002t0001g0168 a0002c0002t0001g0190 a0002c0002t0006g0136 a0002c0002t0006g0145 a0002c0002t0006g0172 a0002c0002t0016g0148 a0002c0073t0006g0193 a0003c0003t0001g0192 a0003c0003t0002g0109 a0003c0003t0002g0113 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0138 a0003c0003t0002g0149 a0003c0003t0002g0151 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0159 a0003c0003t0002g0194 a0003c0007t0001g0116 a0003c0007t0001g0187 a0003c0009t0001g0155 a0003c0020t0001g0009 a0003c0023t0001g0169 a0003c0024t0001g0188 a0003c0045t0002g0153 a0004c0005t0001g0118 a0004c0005t0001g0177 a0006c0012t0001g0143 a0006c0017t0002g0120 a0006c0017t0002g0122 a0007c0008t0001g0117 a0007c0008t0001g0127 a0011c0015t0007g0001 a0012c0016t0001g0165 a0012c0016t0001g0167 a0014c0026t0001g0012 a0021c0063t0001g0108 a0034c0052t0001g0162 a0035c0038t0001g0166	95	366	0.2596	-14	c.55+ others(29): Show c.55+1845_55+1858delAGTGGTGGTGCTGG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8710683	TGAGAGAG others(7): Show TGAGAGAGAGACAGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0316 a0001c0001t0001g0319	2	346	0.0058	-14	c.-41 others(33): Show c.-41-25005_-41-24992delCAGAGAGAGAGAGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8724732	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	360	0.0028	-14	c.-41 others(33): Show c.-41-10953_-41-10940delCAAAAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(98): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02615.hp1 HG02738.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18960.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(9): Show a0001c0001 a0001c0003 a0001c0013 a0001c0023 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0008 a0002c0015 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0036 a0001c0003t0044 a0001c0013t0002 a0001c0023t0024 a0002c0002t0045 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0007 a0002c0004t0008 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0008 a0002c0005t0015 a0002c0005t0016 a0002c0005t0041 a0002c0006t0002 a0002c0008t0002 a0002c0015t0005 a0002c0016t0003 a0002c0017t0002	a0001c0001t0001g0011 a0001c0001t0001g0240 a0001c0001t0002g0290 others(98): Show a0001c0001t0001g0011 a0001c0001t0001g0240 a0001c0001t0002g0290 a0001c0001t0002g0354 a0001c0001t0008g0034 a0001c0001t0028g0072 a0001c0003t0001g0028 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0099 a0001c0003t0001g0228 a0001c0003t0001g0247 a0001c0003t0001g0356 a0001c0003t0002g0052 a0001c0003t0002g0127 a0001c0003t0002g0182 a0001c0003t0002g0244 a0001c0003t0003g0055 a0001c0003t0003g0069 a0001c0003t0003g0073 a0001c0003t0003g0084 a0001c0003t0003g0089 a0001c0003t0003g0102 a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0003g0147 a0001c0003t0003g0168 a0001c0003t0003g0204 a0001c0003t0003g0214 a0001c0003t0003g0258 a0001c0003t0003g0262 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0299 a0001c0003t0003g0345 a0001c0003t0003g0355 a0001c0003t0003g0359 a0001c0003t0004g0108 a0001c0003t0004g0274 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0004g0289 a0001c0003t0004g0360 a0001c0003t0005g0227 a0001c0003t0015g0063 a0001c0003t0036g0150 a0001c0003t0044g0256 a0001c0013t0002g0196 a0001c0013t0002g0197 a0001c0023t0024g0276 a0002c0002t0045g0306 a0002c0004t0001g0019 a0002c0004t0001g0057 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0112 a0002c0004t0001g0115 a0002c0004t0001g0224 a0002c0004t0001g0260 a0002c0004t0001g0277 a0002c0004t0001g0283 a0002c0004t0002g0167 a0002c0004t0002g0310 a0002c0004t0003g0001 a0002c0004t0003g0025 a0002c0004t0003g0083 a0002c0004t0003g0128 a0002c0004t0003g0165 a0002c0004t0003g0174 a0002c0004t0003g0189 a0002c0004t0003g0190 a0002c0004t0003g0193 a0002c0004t0004g0124 a0002c0004t0004g0362 a0002c0004t0007g0342 a0002c0004t0008g0169 a0002c0005t0001g0098 a0002c0005t0001g0208 a0002c0005t0001g0209 a0002c0005t0001g0215 a0002c0005t0001g0218 a0002c0005t0001g0231 a0002c0005t0001g0293 a0002c0005t0003g0067 a0002c0005t0003g0130 a0002c0005t0003g0173 a0002c0005t0003g0200 a0002c0005t0004g0183 a0002c0005t0004g0187 a0002c0005t0004g0263 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0005t0015g0085 a0002c0005t0016g0143 a0002c0005t0041g0314 a0002c0006t0002g0343 a0002c0008t0002g0013 a0002c0015t0005g0305 a0002c0016t0003g0229 a0002c0017t0002g0038	101	116	0.8707	-14	c.817 others(29): Show c.817-489_817-476delTGTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01192.hp2 others(18): Show HG01167.hp2 HG01169.hp1 HG01192.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0010 a0006c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0047 a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0006t0007 a0002c0006t0030 a0003c0010t0001 a0003c0010t0010 a0006c0014t0001	a0001c0001t0001g0233 a0001c0001t0001g0316 a0001c0001t0001g0319 others(18): Show a0001c0001t0001g0233 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0333 a0001c0001t0003g0324 a0001c0001t0006g0298 a0001c0001t0006g0307 a0001c0001t0011g0326 a0001c0001t0047g0309 a0002c0002t0001g0266 a0002c0002t0006g0037 a0002c0002t0006g0161 a0002c0002t0006g0346 a0002c0002t0010g0302 a0002c0002t0011g0308 a0002c0006t0007g0222 a0002c0006t0030g0008 a0003c0010t0001g0234 a0003c0010t0010g0338 a0003c0010t0010g0339 a0006c0014t0001g0035	21	48	0.4375	-14	c.954 others(29): Show c.954+218_954+231delCACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69211314	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0234 a0004c0004t0003g0234	1	243	0.0041	-14	c.100 others(33): Show c.1006+3376_1006+3389delATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214950382	ATCTGTGT others(7): Show ATCTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG03579.hp2 HG02630.hp1 HG02922.hp2 HG03579.hp2	a0006 a0016 a0006 a0016	a0006c0062 a0006c0064 a0016c0037 a0006c0062 a0006c0064 a0016c0037	a0006c0062t0004 a0006c0064t0004 a0016c0037t0004 a0006c0062t0004 a0006c0064t0004 a0016c0037t0004	a0006c0062t0004g0078 a0006c0064t0004g0070 a0016c0037t0004g0023 a0006c0062t0004g0078 a0006c0064t0004g0070 a0016c0037t0004g0023	3	141	0.0213	-14	c.685 others(31): Show c.6852+483_6852+496delCACACACACACAGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214950384	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01975.hp2 HG02280.hp1 others(6): Show HG01884.hp2 HG01975.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03225.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0010 a0002c0007 others(3): Show a0001c0005 a0001c0010 a0002c0007 a0002c0017 a0002c0027 a0003c0020	a0001c0005t0003 a0001c0010t0002 a0001c0010t0009 others(5): Show a0001c0005t0003 a0001c0010t0002 a0001c0010t0009 a0002c0007t0002 a0002c0007t0017 a0002c0017t0009 a0002c0027t0003 a0003c0020t0008	a0001c0005t0003g0077 a0001c0010t0002g0168 a0001c0010t0009g0001 others(6): Show a0001c0005t0003g0077 a0001c0010t0002g0168 a0001c0010t0009g0001 a0002c0007t0002g0105 a0002c0007t0017g0012 a0002c0017t0009g0007 a0002c0027t0003g0073 a0002c0027t0003g0074 a0003c0020t0008g0197	9	86	0.1047	-14	c.685 others(31): Show c.6852+481_6852+494delCACACACACACACA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03453.hp2 HG01993.hp2 HG03453.hp2	a0002 a0005 a0002 a0005	a0002c0054 a0005c0034 a0002c0054 a0005c0034	a0002c0054t0009 a0005c0034t0005 a0002c0054t0009 a0005c0034t0005	a0002c0054t0009g0004 a0005c0034t0005g0169 a0002c0054t0009g0004 a0005c0034t0005g0169	2	20	0.1000	-14	c.178 others(31): Show c.1783-933_1783-920delTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02280.hp2 others(2): Show HG02109.hp1 HG02258.hp2 HG02280.hp2 HG03225.hp1 NA18962.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0001c0033 others(2): Show a0001c0001 a0001c0009 a0001c0033 a0002c0013 a0003c0020	a0001c0001t0012 a0001c0009t0010 a0001c0033t0026 others(2): Show a0001c0001t0012 a0001c0009t0010 a0001c0033t0026 a0002c0013t0008 a0003c0020t0008	a0001c0001t0012g0192 a0001c0009t0010g0187 a0001c0033t0026g0193 others(2): Show a0001c0001t0012g0192 a0001c0009t0010g0187 a0001c0033t0026g0193 a0002c0013t0008g0190 a0003c0020t0008g0197	5	34	0.1471	-14	c.69+ others(29): Show c.69+4977_69+4990delAAAAAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48341902	GATATATA others(7): Show GATATATATATACTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG04204.hp1 HG02145.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0085 a0001c0001t0004g0049 a0001c0001t0002g0085 a0001c0001t0004g0049	2	176	0.0114	-14	c.102 others(35): Show c.10204+3473_10204+3486delCTCATATATATATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48341928	CTCATATA others(7): Show CTCATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19030.hp1 HG01123.hp2 NA19030.hp1	a0007 a0018 a0007 a0018	a0007c0102 a0018c0026 a0007c0102 a0018c0026	a0007c0102t0001 a0018c0026t0001 a0007c0102t0001 a0018c0026t0001	a0007c0102t0001g0020 a0018c0026t0001g0057 a0007c0102t0001g0020 a0018c0026t0001g0057	2	176	0.0114	-14	c.102 others(35): Show c.10204+3487_10204+3500delTTCATATATATATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411009	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0032 a0003c0004t0002g0032	1	176	0.0057	-14	c.122 others(33): Show c.12228+334_12228+347delCTTTCTTTCTTTCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411035	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 NA20129.hp2 HG02572.hp2 HG02970.hp2 NA20129.hp2	a0048 a0064 a0086 a0048 a0064 a0086	a0048c0090 a0064c0105 a0086c0037 a0048c0090 a0064c0105 a0086c0037	a0048c0090t0005 a0064c0105t0005 a0086c0037t0005 a0048c0090t0005 a0064c0105t0005 a0086c0037t0005	a0048c0090t0005g0104 a0064c0105t0005g0037 a0086c0037t0005g0096 a0048c0090t0005g0104 a0064c0105t0005g0037 a0086c0037t0005g0096	3	176	0.0170	-14	c.122 others(33): Show c.12228+374_12228+387delTTCTTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48563794	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show HG02280.hp1 HG02886.hp1 HG03486.hp1 HG06807.hp1 NA18906.hp1	a0007 a0046 a0069 others(2): Show a0007 a0046 a0069 a0074 a0076	a0007c0011 a0046c0067 a0069c0086 others(2): Show a0007c0011 a0046c0067 a0069c0086 a0074c0036 a0076c0110	a0007c0011t0007 a0046c0067t0009 a0069c0086t0009 others(2): Show a0007c0011t0007 a0046c0067t0009 a0069c0086t0009 a0074c0036t0007 a0076c0110t0007	a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 a0074c0036t0007g0083 a0076c0110t0007g0126	5	16	0.3125	-14	c.143 others(37): Show c.14355-16398_14355-16385delGTGTGTGTGTGTGT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104799394	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01099.hp1 HG01192.hp2	a0004 a0004	a0004c0064 a0004c0096 a0004c0064 a0004c0096	a0004c0064t0007 a0004c0096t0007 a0004c0064t0007 a0004c0096t0007	a0004c0064t0007g0230 a0004c0096t0007g0022 a0004c0064t0007g0230 a0004c0096t0007g0022	2	13	0.1538	-14	c.494 others(31): Show c.4943+411_4943+424delTGTGTGTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp2 HG02630.hp1 others(7): Show HG01081.hp2 HG02559.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp2 NA19082.hp2	a0002 a0004 a0007 others(4): Show a0002 a0004 a0007 a0008 a0011 a0019 a0020	a0002c0017 a0002c0085 a0004c0029 others(6): Show a0002c0017 a0002c0085 a0004c0029 a0004c0112 a0007c0090 a0008c0048 a0011c0105 a0019c0095 a0020c0086	a0002c0017t0002 a0002c0085t0008 a0004c0029t0001 others(7): Show a0002c0017t0002 a0002c0085t0008 a0004c0029t0001 a0004c0029t0005 a0004c0112t0005 a0007c0090t0007 a0008c0048t0030 a0011c0105t0024 a0019c0095t0002 a0020c0086t0003	a0002c0017t0002g0185 a0002c0085t0008g0145 a0004c0029t0001g0102 others(7): Show a0002c0017t0002g0185 a0002c0085t0008g0145 a0004c0029t0001g0102 a0004c0029t0005g0208 a0004c0112t0005g0101 a0007c0090t0007g0043 a0008c0048t0030g0023 a0011c0105t0024g0272 a0019c0095t0002g0115 a0020c0086t0003g0103	10	55	0.1818	-14	c.66+ others(29): Show c.66+6889_66+6902delAAAAAAAAAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909607	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG02572.hp1 others(4): Show HG01255.hp2 HG01952.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG02970.hp2 HG03195.hp2	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0008 a0011 a0012 a0028	a0002c0025 a0003c0056 a0005c0052 others(4): Show a0002c0025 a0003c0056 a0005c0052 a0008c0069 a0011c0093 a0012c0010 a0028c0050	a0002c0025t0015 a0003c0056t0001 a0005c0052t0001 others(4): Show a0002c0025t0015 a0003c0056t0001 a0005c0052t0001 a0008c0069t0008 a0011c0093t0001 a0012c0010t0005 a0028c0050t0001	a0002c0025t0015g0197 a0003c0056t0001g0203 a0005c0052t0001g0195 others(4): Show a0002c0025t0015g0197 a0003c0056t0001g0203 a0005c0052t0001g0195 a0008c0069t0008g0098 a0011c0093t0001g0109 a0012c0010t0005g0202 a0028c0050t0001g0212	7	93	0.0753	-14	c.-92 others(31): Show c.-92-5850_-92-5837delGTGTGTGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2316322	AAGAAAAA others(7): Show AAGAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0190 a0001c0003t0002g0190	1	250	0.0040	-14	c.111 others(31): Show c.1111+947_1111+960delCTTTTCTTTTTTCT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2316490	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0098 a0003c0014t0001g0098	1	16	0.0625	-14	c.111 others(31): Show c.1111+779_1111+792delTTTTTTTTTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94116955	CCTTTCTT others(7): Show CCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG03704.hp2 others(2): Show HG00735.hp2 HG01884.hp1 HG03704.hp2 NA18954.hp2 NA18991.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0082 others(1): Show a0001c0001 a0002c0002 a0003c0082 a0010c0023	a0001c0001t0001 a0002c0002t0001 a0003c0082t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0082t0002 a0010c0023t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0208 others(2): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0208 a0003c0082t0002g0212 a0010c0023t0001g0209	5	290	0.0172	-14	c.67- others(29): Show c.67-3903_67-3890delAGAAAGAAAGAAAG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94124144	TTTTTGTT others(7): Show TTTTTGTTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0240 a0001c0004t0001g0240	1	265	0.0038	-14	c.-31 others(25): Show c.-3113_-3100delCAAAAAAAACAAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding		2997		chr1	TogoVar
ABCA5_chr17_69239311_69332133	69292992	ACCCTATT others(7): Show ACCCTATTAGTATAC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19074.hp2 NA18980.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0126 a0001c0002t0001g0133	2	348	0.0057	-14	c.149 others(33): Show c.1495+1649_1495+1662delGTATACTAATAGGG	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293872	GCGTGTGT others(7): Show GCGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp1 others(54): Show HG00099.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp2 HG00741.hp2 HG01123.hp1 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG02040.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG03017.hp2 HG03492.hp2 HG03710.hp1 HG04199.hp1 HG04204.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19086.hp1	a0002 a0007 a0008 others(3): Show a0002 a0007 a0008 a0009 a0010 a0014	a0002c0001 a0007c0011 a0008c0012 others(3): Show a0002c0001 a0007c0011 a0008c0012 a0009c0025 a0010c0014 a0014c0023	a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 others(5): Show a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 a0007c0011t0002 a0008c0012t0002 a0009c0025t0002 a0010c0014t0002 a0014c0023t0002	a0002c0001t0002g0015 a0002c0001t0002g0213 a0002c0001t0002g0215 others(54): Show a0002c0001t0002g0015 a0002c0001t0002g0213 a0002c0001t0002g0215 a0002c0001t0002g0228 a0002c0001t0002g0241 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0257 a0002c0001t0002g0260 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0269 a0002c0001t0002g0272 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0277 a0002c0001t0002g0280 a0002c0001t0002g0281 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0293 a0002c0001t0002g0295 a0002c0001t0002g0298 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0303 a0002c0001t0002g0306 a0002c0001t0002g0307 a0002c0001t0002g0310 a0002c0001t0002g0317 a0002c0001t0009g0238 a0002c0001t0009g0258 a0002c0001t0009g0266 a0002c0001t0011g0247 a0002c0001t0011g0296 a0002c0001t0011g0297 a0007c0011t0002g0268 a0007c0011t0002g0271 a0008c0012t0002g0259 a0009c0025t0002g0294 a0010c0014t0002g0256 a0014c0023t0002g0282	57	348	0.1638	-14	c.149 others(31): Show c.1495+769_1495+782delAACACACACACACG	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA7_chr19_1035107_1070572	1066626	AGACGGAC others(7): Show AGACGGACAGGGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02145.hp2 HG02723.hp2 others(5): Show HG02071.hp1 HG02145.hp2 HG02723.hp2 HG02970.hp1 HG02970.hp2 NA18983.hp2 NA19066.hp1 NA20905.hp2	a0004 a0006 a0010 others(4): Show a0004 a0006 a0010 a0011 a0016 a0017 a0019	a0004c0005 a0006c0019 a0010c0008 others(4): Show a0004c0005 a0006c0019 a0010c0008 a0011c0020 a0016c0006 a0017c0014 a0019c0013	a0004c0005t0002 a0006c0019t0002 a0010c0008t0002 others(4): Show a0004c0005t0002 a0006c0019t0002 a0010c0008t0002 a0011c0020t0002 a0016c0006t0002 a0017c0014t0002 a0019c0013t0002	a0004c0005t0002g0002 a0004c0005t0002g0003 a0006c0019t0002g0029 others(5): Show a0004c0005t0002g0002 a0004c0005t0002g0003 a0006c0019t0002g0029 a0010c0008t0002g0014 a0011c0020t0002g0020 a0016c0006t0002g0006 a0017c0014t0002g0025 a0019c0013t0002g0030	8	28	0.2857	-14	c.12 others(25): Show c.1202_*1215delGACGGACAGGGCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding		1055		chr19	TogoVar
ABCA8_chr17_68862289_68960392	68904289	AGAAATAA others(7): Show AGAAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01069.hp1 others(37): Show HG00408.hp2 HG00438.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01884.hp1 HG02055.hp1 HG02071.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02809.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp2 HG03831.hp1 NA18612.hp2 NA18950.hp1 NA18960.hp2 NA18968.hp1 NA18975.hp2 NA18980.hp2 NA18986.hp1 NA19001.hp1 NA19003.hp2 NA19063.hp1 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0015 a0016 a0019 a0026	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0023 a0001c0048 a0002c0006 a0002c0034 a0002c0046 a0002c0053 a0003c0008 a0005c0009 a0008c0032 a0015c0030 a0016c0015 a0019c0028 a0026c0018	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0023t0001 a0001c0048t0001 a0002c0006t0001 a0002c0034t0001 a0002c0046t0001 a0002c0053t0001 a0003c0008t0001 a0003c0008t0005 a0005c0009t0001 a0008c0032t0005 a0015c0030t0001 a0016c0015t0001 a0019c0028t0001 a0026c0018t0001	a0001c0001t0001g0010 a0001c0001t0001g0185 a0001c0001t0001g0210 others(35): Show a0001c0001t0001g0010 a0001c0001t0001g0185 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0003t0001g0068 a0001c0004t0001g0038 a0001c0004t0001g0049 a0001c0004t0001g0127 a0001c0004t0001g0180 a0001c0004t0001g0186 a0001c0004t0001g0189 a0001c0004t0001g0205 a0001c0004t0001g0218 a0001c0004t0001g0245 a0001c0023t0001g0268 a0001c0048t0001g0166 a0002c0006t0001g0001 a0002c0006t0001g0095 a0002c0006t0001g0201 a0002c0034t0001g0007 a0002c0046t0001g0052 a0002c0053t0001g0050 a0003c0008t0001g0151 a0003c0008t0005g0152 a0005c0009t0001g0002 a0005c0009t0001g0105 a0005c0009t0001g0109 a0005c0009t0001g0115 a0008c0032t0005g0097 a0015c0030t0001g0104 a0016c0015t0001g0013 a0019c0028t0001g0112 a0026c0018t0001g0234	40	187	0.2139	-14	c.239 others(31): Show c.2399-804_2399-791delATTATTATTATTTC	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	19/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911734	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0001 a0007c0040t0001	a0007c0040t0001g0120 a0007c0040t0001g0120	1	92	0.0109	-14	c.213 others(33): Show c.2139-3869_2139-3856delGTGTGTGTGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922190	CTCTCTTT others(7): Show CTCTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02129.hp1 HG02129.hp2 others(13): Show HG01517.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 NA18942.hp2 NA18951.hp2 NA18953.hp1 NA18962.hp1 NA18968.hp2 NA18975.hp1 NA18979.hp2 NA18986.hp2 NA18999.hp2 NA19003.hp1 NA19043.hp2 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0007 a0004c0033	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0004c0007t0001 a0004c0033t0001	a0001c0001t0001g0154 a0001c0001t0001g0215 a0001c0002t0001g0241 others(13): Show a0001c0001t0001g0154 a0001c0001t0001g0215 a0001c0002t0001g0241 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0004t0001g0194 a0004c0007t0001g0058 a0004c0007t0001g0263 a0004c0033t0001g0061	16	250	0.0640	-14	c.150 others(29): Show c.1501+38_1501+51delAAAAAAAAAAGAGA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02615.hp1 HG03516.hp1 others(2): Show HG01433.hp2 HG02615.hp1 HG03516.hp1 NA18948.hp2 NA18980.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0040 a0001c0001 a0007c0040	a0001c0001t0001 a0007c0040t0001 a0001c0001t0001 a0007c0040t0001	a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0255 a0007c0040t0001g0120	5	45	0.1111	-14	c.150 others(29): Show c.1501+34_1501+47delAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935539	CCTATATA others(7): Show CCTATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show HG01496.hp1 NA18953.hp1 NA18994.hp2 NA19003.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0038 a0001c0003 a0006c0038	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0006c0038t0001	a0001c0003t0001g0102 a0001c0003t0002g0101 a0001c0003t0003g0098 others(2): Show a0001c0003t0001g0102 a0001c0003t0002g0101 a0001c0003t0003g0098 a0001c0003t0003g0100 a0006c0038t0001g0099	5	272	0.0184	-14	c.466 others(31): Show c.466+1398_466+1411delATATATATATATAG	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA9_chr17_68969488_69065927	68971484	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03516.hp2 NA18953.hp1 HG01496.hp2 HG03516.hp2 NA18953.hp1	a0001 a0007 a0019 a0001 a0007 a0019	a0001c0001 a0007c0010 a0019c0023 a0001c0001 a0007c0010 a0019c0023	a0001c0001t0001 a0007c0010t0002 a0019c0023t0003 a0001c0001t0001 a0007c0010t0002 a0019c0023t0003	a0001c0001t0001g0253 a0007c0010t0002g0118 a0019c0023t0003g0018 a0001c0001t0001g0253 a0007c0010t0002g0118 a0019c0023t0003g0018	3	27	0.1111	-14	c.44 others(25): Show c.4417_*4430delACACACACACACAC	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding		3003		chr17	TogoVar

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