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
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02257.hp2 HG01069.hp1 HG01071.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0011 a0001c0001t0001g0043	3	202	0.0149	19	c.336 others(36): Show c.336-1316_336-1298dupAAAAAAAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(12): Show AGAAGGAAGGAAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	74	0.0135	19	c.-18 others(40): Show c.-188+12251_-188+12252insCTTCTTCCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0114 a0001c0001t0022g0114	1	121	0.0083	19	c.-18 others(40): Show c.-188+11729_-188+11730insAAAAAAATATATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL4_chr1_12639085_12672076	12658090	T T	TTTCCTTC others(12): Show TTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	306	0.0033	19	c.386 others(36): Show c.386-3701_386-3700insTTCCTTCCTTCCTTCCTTC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3			chr1	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01975.hp1 HG01981.hp2 others(19): Show HG01358.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02148.hp2 HG02300.hp2 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG03209.hp1 HG04199.hp2 NA18946.hp2 NA18954.hp2 NA18956.hp1 NA18993.hp1 NA19055.hp1 NA19056.hp1 NA19068.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(13): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0096 a0001c0001t0107 a0001c0001t0114 a0001c0001t0115 a0001c0001t0132 a0001c0001t0133 a0001c0004t0017 a0002c0002t0003 a0002c0002t0004 a0002c0002t0035 a0002c0002t0048 a0002c0002t0106	a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0265 others(19): Show a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0265 a0001c0001t0005g0268 a0001c0001t0007g0206 a0001c0001t0007g0215 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0010g0211 a0001c0001t0020g0199 a0001c0001t0096g0115 a0001c0001t0107g0170 a0001c0001t0114g0181 a0001c0001t0115g0184 a0001c0001t0132g0245 a0001c0001t0133g0201 a0001c0004t0017g0071 a0002c0002t0003g0036 a0002c0002t0004g0210 a0002c0002t0035g0005 a0002c0002t0048g0025 a0002c0002t0106g0173	22	91	0.2418	19	c.236 others(38): Show c.2365+2808_2365+2826dupTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	4	0.2500	19	c.132 others(36): Show c.132+9613_132+9614insAAAAAAAAAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0002 a0009 a0002 a0009	a0002c0004 a0009c0009 a0002c0004 a0009c0009	a0002c0004t0001 a0009c0009t0001 a0002c0004t0001 a0009c0009t0001	a0002c0004t0001g0356 a0009c0009t0001g0334 a0002c0004t0001g0356 a0009c0009t0001g0334	2	39	0.0513	19	c.962 others(34): Show c.962+277_962+295dupTTTTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(12): Show ACCCCCCCCCCGCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	220	0.0045	19	c.-34 others(28): Show c.-340_-339insCGGGGGGGCGGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(12): Show ACCCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01074.hp2 others(11): Show HG00280.hp2 HG01070.hp1 HG01074.hp2 HG01943.hp2 HG02886.hp1 NA18747.hp1 NA18943.hp1 NA18951.hp1 NA18969.hp2 NA18988.hp1 NA18997.hp1 NA18999.hp2 NA19056.hp1 NA19056.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0016 a0010c0014 a0001c0001 a0001c0016 a0010c0014	a0001c0001t0001 a0001c0016t0001 a0010c0014t0001 a0001c0001t0001 a0001c0016t0001 a0010c0014t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0066 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0016t0001g0094 a0010c0014t0001g0110	14	233	0.0601	19	c.-35 others(28): Show c.-358_-340dupCGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(12): Show ACCCCCCCCGCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	220	0.0045	19	c.-34 others(28): Show c.-340_-339insGCGGGGGGGGCGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp2 HG04184.hp1 others(3): Show HG01346.hp1 HG01361.hp2 HG04184.hp1 HG06807.hp1 NA18973.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0303 others(3): Show a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306	6	98	0.0612	19	c.-16 others(36): Show c.-16+3657_-16+3675dupTTTTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	103	0.0097	19	c.-41 others(38): Show c.-41-28329_-41-28328insTTTTTTTTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(12): Show AGAGAGAGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18960.hp2 HG03688.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0008 a0001c0003t0001 a0002c0002t0008	a0001c0003t0001g0093 a0002c0002t0008g0111 a0001c0003t0001g0093 a0002c0002t0008g0111	2	103	0.0194	19	c.-41 others(38): Show c.-41-24969_-41-24968insAGAGAGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723828	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	332	0.0030	19	c.-41 others(38): Show c.-41-11871_-41-11870insATATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15			chr16	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0114 a0006c0007t0004g0114	1	176	0.0057	19	c.100 others(38): Show c.1006+4515_1006+4533dupAAAAAAAAAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210865	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0197 a0007c0008t0004g0197	1	338	0.0030	19	c.100 others(38): Show c.1006+3838_1006+3839insTATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18986.hp1 NA19010.hp1 others(1): Show NA18977.hp1 NA18986.hp1 NA19010.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0010t0001 a0001c0001t0001 a0001c0001t0006 a0001c0010t0001	a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0006g0178 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0006g0178 a0001c0010t0001g0054	4	6	0.6667	19	c.764 others(36): Show c.764-1872_764-1854dupTTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48341860	T T	TATATATA others(12): Show TATATATATATATCTTTCTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA20752.hp2 HG03654.hp2 NA20752.hp2	a0008 a0088 a0008 a0088	a0008c0032 a0088c0099 a0008c0032 a0088c0099	a0008c0032t0002 a0088c0099t0002 a0008c0032t0002 a0088c0099t0002	a0008c0032t0002g0047 a0088c0099t0002g0062 a0008c0032t0002g0047 a0088c0099t0002g0062	2	176	0.0114	19	c.102 others(40): Show c.10204+3418_10204+3436dupCTTTCTGATATATATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0040 a0040	a0040c0064 a0040c0064	a0040c0064t0001 a0040c0064t0001	a0040c0064t0001g0127 a0040c0064t0001g0127	1	76	0.0132	19	c.118 others(40): Show c.11874-1939_11874-1938insCACACACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61			chr7	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG02129.hp2 others(6): Show HG00609.hp2 HG00642.hp2 HG02129.hp2 HG03041.hp2 HG03942.hp2 NA18999.hp1 NA19010.hp2 NA19011.hp1 NA19078.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0012 a0013	a0001c0001 a0003c0002 a0006c0004 others(2): Show a0001c0001 a0003c0002 a0006c0004 a0012c0010 a0013c0013	a0001c0001t0001 a0001c0001t0003 a0003c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0003c0002t0002 a0006c0004t0002 a0006c0004t0004 a0012c0010t0005 a0013c0013t0025	a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0003g0266 others(6): Show a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0003g0266 a0003c0002t0002g0042 a0003c0002t0002g0227 a0006c0004t0002g0133 a0006c0004t0004g0282 a0012c0010t0005g0224 a0013c0013t0025g0030	9	29	0.3103	19	c.421 others(35): Show c.421+992_421+1010dupTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104893421	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0066 a0004c0066	a0004c0066t0008 a0004c0066t0008	a0004c0066t0008g0008 a0004c0066t0008g0008	1	113	0.0088	19	c.67- others(34): Show c.67-4245_67-4227dupTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA4_chr1_93987834_94126148	94117007	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0175 a0001c0006t0001g0181 a0001c0006t0001g0175 a0001c0006t0001g0181	2	279	0.0072	19	c.66+ others(34): Show c.66+3954_67-3942dupGAAAGAAAGAAAGAAAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0326 a0001c0004t0005g0326	1	17	0.0588	19	c.331 others(38): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887957	T T	TATATATA others(12): Show TATATATATAATATATATGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 NA18522.hp1 HG02572.hp1 HG03516.hp1 NA18522.hp1	a0003 a0007 a0017 a0003 a0007 a0017	a0003c0008 a0007c0040 a0017c0055 a0003c0008 a0007c0040 a0017c0055	a0003c0008t0001 a0007c0040t0001 a0017c0055t0001 a0003c0008t0001 a0007c0040t0001 a0017c0055t0001	a0003c0008t0001g0124 a0007c0040t0001g0120 a0017c0055t0001g0130 a0003c0008t0001g0124 a0007c0040t0001g0120 a0017c0055t0001g0130	3	272	0.0110	19	c.314 others(36): Show c.3145-452_3145-451insCCATATATATTATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229550525	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	113	0.0088	19	c.518 others(36): Show c.518-1110_518-1092dupTTTTTTTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/12			chr1	TogoVar
ABCB1_chr7_87498017_87605884	87516731	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG01952.hp1 others(20): Show HG01123.hp2 HG01192.hp1 HG01952.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp1 NA18963.hp2 NA18973.hp1 NA18992.hp1 NA18994.hp2 NA19005.hp2 NA19030.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA20129.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0014	a0001c0001 a0001c0004 a0001c0020 others(3): Show a0001c0001 a0001c0004 a0001c0020 a0003c0007 a0008c0013 a0014c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0020t0001 a0003c0007t0001 a0008c0013t0001 a0014c0019t0009	a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0074 others(20): Show a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0181 a0001c0001t0001g0265 a0001c0001t0001g0309 a0001c0001t0004g0085 a0001c0001t0008g0055 a0001c0001t0008g0097 a0001c0004t0001g0071 a0001c0004t0002g0050 a0001c0004t0002g0052 a0001c0004t0002g0064 a0001c0004t0002g0067 a0001c0004t0002g0069 a0001c0004t0005g0011 a0001c0004t0005g0014 a0001c0004t0005g0015 a0001c0004t0012g0133 a0001c0020t0001g0042 a0003c0007t0001g0102 a0008c0013t0001g0189 a0014c0019t0009g0237	23	188	0.1223	19	c.292 others(34): Show c.2928-85_2928-67dupAAAAAAAAAAAAAAAAAAA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	23/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589805	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	201	0.0050	19	c.118 others(36): Show c.118-4126_118-4125insTCTCTCTCTCTCTCTCTCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589836	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	327	0.0031	19	c.118 others(36): Show c.118-4157_118-4156insTCTCTCTCTCTCTCTCTCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20731369	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02630.hp1 others(4): Show HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2	a0005 a0007 a0018 others(1): Show a0005 a0007 a0018 a0049	a0005c0015 a0007c0011 a0007c0016 others(3): Show a0005c0015 a0007c0011 a0007c0016 a0007c0047 a0018c0086 a0049c0108	a0005c0015t0004 a0007c0011t0004 a0007c0016t0003 others(3): Show a0005c0015t0004 a0007c0011t0004 a0007c0016t0003 a0007c0047t0004 a0018c0086t0004 a0049c0108t0004	a0005c0015t0004g0274 a0007c0011t0004g0073 a0007c0011t0004g0128 others(4): Show a0005c0015t0004g0274 a0007c0011t0004g0073 a0007c0011t0004g0128 a0007c0016t0003g0053 a0007c0047t0004g0065 a0018c0086t0004g0125 a0049c0108t0004g0063	7	47	0.1489	19	c.286 others(38): Show c.2867+2915_2867+2916insAAAAAAAAAAAAATATATA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20731369	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03471.hp1 HG02970.hp1 HG03471.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0006 a0004c0008t0005 a0004c0008t0006	a0004c0008t0005g0339 a0004c0008t0006g0120 a0004c0008t0005g0339 a0004c0008t0006g0120	2	42	0.0476	19	c.286 others(38): Show c.2867+2915_2867+2916insAAAAAAAAATATATATATA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19085.hp1 NA20752.hp1 HG02897.hp1 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0209 a0001c0001t0002g0044 a0001c0001t0002g0077 a0001c0001t0001g0209 a0001c0001t0002g0044 a0001c0001t0002g0077	3	24	0.1250	19	c.334 others(36): Show c.334-5005_334-4987dupAAAAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC1_chr16_15944616_16148053	15999809	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0228 a0001c0005t0007g0228	1	81	0.0123	19	c.49- others(34): Show c.49-8007_49-8006insTCTCTCTCTCTCTCTCTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	16037436	C C	CTGAGACA others(12): Show CTGAGACACCATTAGTTGCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG03209.hp1 others(1): Show HG02451.hp1 HG03130.hp1 HG03209.hp1 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0006 a0001c0001t0010 a0007c0016t0006 a0001c0001t0006 a0001c0001t0010 a0007c0016t0006	a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0010g0120 others(1): Show a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0010g0120 a0007c0016t0006g0088	4	248	0.0161	19	c.809 others(34): Show c.809+837_809+855dupGACACCATTAGTTGCGTGA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0108 a0001c0002t0006g0108	1	48	0.0208	19	c.22 others(30): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC3_chr17_50629881_50697253	50673961	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	338	0.0030	19	c.259 others(36): Show c.2599+305_2599+323dupTCTTTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674030	C C	CTCTTCTT others(12): Show CTCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	145	0.0069	19	c.259 others(36): Show c.2599+375_2599+376insTCTTTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95086100	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0051 a0002c0004t0002g0051	1	246	0.0041	19	c.253 others(38): Show c.2536-2829_2536-2811dupCACACACACACACACACAC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183922821	G G	GCGTGTCC others(12): Show GCGTGTCCTTCCTTTGGACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp2 others(76): Show HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00735.hp1 HG01074.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03209.hp2 HG03540.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18973.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0002 a0001c0023 a0003c0011 others(2): Show a0001c0002 a0001c0023 a0003c0011 a0004c0012 a0008c0014	a0001c0002t0001 a0001c0002t0008 a0001c0023t0001 others(3): Show a0001c0002t0001 a0001c0002t0008 a0001c0023t0001 a0003c0011t0001 a0004c0012t0001 a0008c0014t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(71): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0152 a0001c0002t0001g0258 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0289 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0008g0263 a0001c0002t0008g0264 a0001c0002t0008g0265 a0001c0002t0008g0266 a0001c0023t0001g0142 a0003c0011t0001g0078 a0004c0012t0001g0101 a0008c0014t0001g0109	79	372	0.2124	19	c.421 others(38): Show c.4213-1439_4213-1421dupTGTCCAAAGGAAGGACACG	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	29/29			chr3	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01169.hp1 others(2): Show HG00639.hp2 HG00738.hp2 HG01169.hp1 NA18977.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0003g0105	5	42	0.1190	19	c.816 others(34): Show c.816+153_816+154insAAAAAAAAAAAAATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19091.hp1 NA18747.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0056 a0001c0001t0001g0065	2	39	0.0513	19	c.816 others(34): Show c.816+153_816+154insAAAAAAAAAAAAAAATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp1 NA18984.hp2 HG00408.hp1 HG02132.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0009 a0001c0001t0001g0062 a0001c0001t0001g0063	3	40	0.0750	19	c.816 others(34): Show c.816+153_816+154insAAAAAAAAAAAAAAAAATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCD4_chr14_74280269_74307934	74306173	T T	TATATATA others(12): Show TATATATATATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0002 a0012c0011t0002	a0012c0011t0002g0049 a0012c0011t0002g0049	1	374	0.0027	19	c.-32 others(30): Show c.-3262_-3261insCATACATATATATATATAT	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding		3240		chr14	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(12): Show GTTCCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 NA20129.hp1 HG02258.hp2 HG02559.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0005 a0001c0001t0001g0015	3	323	0.0093	19	c.156 others(36): Show c.1569+486_1569+487insCCTTTTTTTTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCG4_chr11_119144052_119167653	119147518	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18970.hp1 NA18978.hp1 others(1): Show NA18612.hp1 NA18970.hp1 NA18978.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0078	4	171	0.0234	19	c.-18 others(30): Show c.-1858_-1857insAAGAAAGAAAGGAAGGAAG	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1533		chr11	TogoVar
ABCG4_chr11_119144052_119167653	119147518	A A	AAAGAAAG others(12): Show AAAGAAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0026 a0001c0005t0005g0026	1	168	0.0060	19	c.-18 others(30): Show c.-1858_-1857insAAGAAAGGAAGGAAGGAAG	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1533		chr11	TogoVar
ABCG8_chr2_43833971_43887988	43870798	C C	CACCATCT others(12): Show CACCATCTGGATAGAATCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp2 HG00741.hp2 HG02451.hp2	a0003 a0006 a0003 a0006	a0003c0021 a0006c0005 a0003c0021 a0006c0005	a0003c0021t0007 a0006c0005t0002 a0003c0021t0007 a0006c0005t0002	a0003c0021t0007g0030 a0006c0005t0002g0260 a0003c0021t0007g0030 a0006c0005t0002g0260	2	316	0.0063	19	c.965 others(36): Show c.965-1176_965-1175insCATCTGGATAGAATCTTAC	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43884376	A A	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	72	0.0139	19	c.64 others(30): Show c.6463_*6464insAATAAATAAATAAATAAAT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		1389		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00673.hp1 others(7): Show HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG02040.hp2 HG02300.hp1 NA18942.hp1 NA18942.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0002c0003t0002 others(1): Show a0001c0001t0003 a0001c0001t0007 a0002c0003t0002 a0002c0003t0005	a0001c0001t0003g0051 a0001c0001t0003g0103 a0001c0001t0003g0134 others(7): Show a0001c0001t0003g0051 a0001c0001t0003g0103 a0001c0001t0003g0134 a0001c0001t0007g0010 a0001c0001t0007g0118 a0001c0001t0007g0145 a0002c0003t0002g0237 a0002c0003t0005g0196 a0002c0003t0005g0201 a0002c0003t0005g0257	10	127	0.0787	19	c.92 others(30): Show c.9230_*9231insAAAAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870961	A A	AAGAAAGA others(12): Show AAGAAAGAAAGAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0149 a0005c0008t0002g0149	1	364	0.0027	19	c.-12 others(30): Show c.-1214_-1213insAGAAAGAAAGAAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1091		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50882373	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0009 a0004c0009t0015 a0004c0009t0009 a0004c0009t0015	a0004c0009t0009g0165 a0004c0009t0015g0177 a0004c0009t0009g0165 a0004c0009t0015g0177	2	8	0.2500	19	c.486 others(34): Show c.486+750_486+768dupTTTTTTTTTTTTTTTTTTT	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr14	TogoVar

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