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
A1BG_chr19_58340183_58358492	58347688	GCCCCAGG others(6): Show GCCCCAGGCCACAC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	288	0.0035	-13	c.119 others(28): Show c.1193-61_1193-49delGTGTGGCCTGGGG	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A1CF_chr10_50794409_50890627	50830563	AAAATGAA others(6): Show AAAATGAAAGATCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03139.hp1 others(2): Show HG02258.hp1 HG02922.hp2 HG03139.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0038 a0001c0001t0008 a0001c0001t0038	a0001c0001t0008g0006 a0001c0001t0008g0102 a0001c0001t0038g0056 a0001c0001t0008g0006 a0001c0001t0008g0102 a0001c0001t0038g0056	5	336	0.0149	-13	c.605 others(30): Show c.605-2281_605-2269delAGATCTTTCATTT	A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	6/12			chr10	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	200	0.0050	-13	c.336 others(30): Show c.336-1310_336-1298delAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42714274	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG03486.hp2 HG01884.hp1 HG03098.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0287 a0002c0003t0001g0230 a0002c0003t0001g0275 a0001c0001t0004g0287 a0002c0003t0001g0230 a0002c0003t0001g0275	3	126	0.0238	-13	c.-18 others(32): Show c.-188+6510_-188+6522delTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42720267	AATCCTCA others(6): Show AATCCTCACCCTCC	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0086	1	404	0.0025	-13	c.-18 others(30): Show c.-188+517_-188+529delGGAGGGTGAGGAT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42724628	ACTGCAGC others(6): Show ACTGCAGCCTTGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	404	0.0025	-13	c.-40 others(24): Show c.-4032_-4020delGTCAAGGCTGCAG	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		3759		chr22	TogoVar
A4GNT_chr3_138118713_138137390	138127523	GAGATCAC others(6): Show GAGATCACGCCACT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	396	0.0025	-13	c.409 others(30): Show c.409-2658_409-2646delAGTGGCGTGATCT	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	2/2			chr3	TogoVar
AACS_chr12_125060435_125148316	125103987	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02922.hp2 HG03471.hp1 others(4): Show HG00733.hp2 HG02922.hp2 HG03471.hp1 HG03579.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0007 a0002c0007t0001 a0001c0001t0001 a0002c0002t0007 a0002c0007t0001	a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 others(4): Show a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0002t0007g0277 a0002c0007t0001g0019 a0002c0007t0001g0027	7	23	0.3043	-13	c.767 others(28): Show c.767+926_767+938delAAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110237	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	362	0.0028	-13	c.915 others(30): Show c.915+2971_915+2983delGTGTGTGTGTGTT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151765807	TCCTTAAC others(6): Show TCCTTAACATGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	426	0.0023	-13	c.82 others(24): Show c.8214_*8226delCCTTAACATGATG	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		4469		chr3	TogoVar
AADACL4_chr1_12639085_12672076	12659380	ATGAGGAG others(6): Show ATGAGGAGGATCTG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	-13	c.386 others(30): Show c.386-2410_386-2398delTGAGGAGGATCTG	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3			chr1	TogoVar
AAGAB_chr15_67195667_67259661	67196179	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0307 a0001c0001t0018g0307	1	378	0.0026	-13	c.66 others(24): Show c.6629_*6641delCTTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding		4487		chr15	TogoVar
AAGAB_chr15_67195667_67259661	67242429	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0224 a0001c0001t0015g0224	1	128	0.0078	-13	c.74- others(28): Show c.74-5622_74-5610delTTTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp2 HG02155.hp2 others(10): Show HG01928.hp1 HG02080.hp2 HG02155.hp2 HG03139.hp2 HG03831.hp2 HG04184.hp1 NA18747.hp2 NA18956.hp1 NA18956.hp2 NA18965.hp2 NA19058.hp2 NA19078.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0170 a0001c0002t0001g0232 a0001c0002t0001g0233 others(10): Show a0001c0002t0001g0170 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0001g0246 a0001c0002t0001g0266 a0001c0002t0001g0293 a0001c0002t0001g0297 a0001c0002t0001g0301 a0001c0002t0001g0312 a0001c0002t0003g0321 a0001c0002t0003g0322	13	50	0.2600	-13	c.962 others(28): Show c.962+283_962+295delTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AATK_chr17_81112295_81171221	81143257	GTCCCAGG others(6): Show GTCCCAGGCAGCCT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0273 a0002c0002t0001g0273	1	365	0.0027	-13	c.56- others(28): Show c.56-8769_56-8757delAGGCTGCCTGGGA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81148064	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18960.hp1 HG01081.hp1 NA18960.hp1	a0001 a0007 a0001 a0007	a0001c0004 a0007c0008 a0001c0004 a0007c0008	a0001c0004t0002 a0007c0008t0001 a0001c0004t0002 a0007c0008t0001	a0001c0004t0002g0128 a0007c0008t0001g0127 a0001c0004t0002g0128 a0007c0008t0001g0127	2	51	0.0392	-13	c.56- others(30): Show c.56-13576_56-13564delTTTTTTTTTTTTT	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146194	TATATATA others(6): Show TATATATATACGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0014 a0015c0029t0014	a0015c0029t0014g0198 a0015c0029t0014g0198	1	345	0.0029	-13	c.26 others(24): Show c.2620_*2632delTCCGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1812		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146209	TATATATA others(6): Show TATATATATACGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0001 a0017c0030t0001	a0017c0030t0001g0260 a0017c0030t0001g0260	1	337	0.0030	-13	c.26 others(24): Show c.2605_*2617delTCCGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1797		chr17	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02132.hp1 HG03490.hp1 others(6): Show HG01243.hp2 HG02132.hp1 HG03490.hp1 NA18971.hp1 NA18981.hp1 NA19000.hp2 NA19007.hp2 NA19070.hp1 NA19090.hp2	a0001 a0012 a0015 others(1): Show a0001 a0012 a0015 a0019	a0001c0001 a0001c0004 a0001c0009 others(5): Show a0001c0001 a0001c0004 a0001c0009 a0001c0021 a0001c0040 a0012c0039 a0015c0055 a0019c0038	a0001c0001t0012 a0001c0004t0010 a0001c0009t0008 others(5): Show a0001c0001t0012 a0001c0004t0010 a0001c0009t0008 a0001c0021t0010 a0001c0040t0008 a0012c0039t0012 a0015c0055t0010 a0019c0038t0008	a0001c0001t0012g0191 a0001c0004t0010g0198 a0001c0009t0008g0188 others(6): Show a0001c0001t0012g0191 a0001c0004t0010g0198 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0021t0010g0194 a0001c0040t0008g0186 a0012c0039t0012g0185 a0015c0055t0010g0184 a0019c0038t0008g0195	9	38	0.2368	-13	c.69+ others(28): Show c.69+4978_69+4990delAAAAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48411030	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0069 a0069	a0069c0086 a0069c0086	a0069c0086t0009 a0069c0086t0009	a0069c0086t0009g0160 a0069c0086t0009g0160	1	176	0.0057	-13	c.122 others(32): Show c.12228+354_12228+366delCTTTCTTTCTTTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61			chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(6): Show CGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0002 a0010c0007t0002	a0010c0007t0002g0016 a0010c0007t0002g0016	1	282	0.0035	-13	c.422 others(28): Show c.422-857_422-845delCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862649	CGGGCCGG others(6): Show CGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	241	0.0041	-13	c.422 others(28): Show c.422-862_422-850delCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862654	CGGGCCGG others(6): Show CGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02895.hp2 HG02897.hp2 HG01361.hp1 HG02895.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0015 a0001c0005 a0002c0015	a0001c0005t0001 a0002c0015t0013 a0001c0005t0001 a0002c0015t0013	a0001c0005t0001g0047 a0002c0015t0013g0001 a0001c0005t0001g0047 a0002c0015t0013g0001	3	297	0.0101	-13	c.422 others(28): Show c.422-867_422-855delCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG03834.hp1 HG00099.hp2 HG01169.hp1 HG03834.hp1	a0003 a0007 a0003 a0007	a0003c0009 a0007c0003 a0003c0009 a0007c0003	a0003c0009t0003 a0007c0003t0016 a0007c0003t0020 a0003c0009t0003 a0007c0003t0016 a0007c0003t0020	a0003c0009t0003g0265 a0007c0003t0016g0297 a0007c0003t0020g0234 a0003c0009t0003g0265 a0007c0003t0016g0297 a0007c0003t0020g0234	3	23	0.1304	-13	c.421 others(29): Show c.421+998_421+1010delTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104891966	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	107	0.0093	-13	c.67- others(28): Show c.67-2784_67-2772delTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(76): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp1 HG02257.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA18998.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19068.hp1 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0016 a0019 a0020 a0029 a0036	a0001c0001 a0001c0005 a0001c0035 others(45): Show a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 a0002c0033 a0002c0037 a0002c0059 a0002c0074 a0002c0075 a0003c0002 a0003c0009 a0004c0008 a0004c0029 a0004c0064 a0004c0066 a0004c0087 a0004c0098 a0004c0099 a0004c0114 a0005c0014 a0005c0016 a0005c0026 a0005c0036 a0005c0051 a0005c0052 a0006c0004 a0006c0012 a0007c0003 a0008c0006 a0008c0049 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0011c0040 a0011c0041 a0012c0010 a0014c0054 a0016c0019 a0019c0100 a0020c0106 a0029c0073 a0036c0067	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(66): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0005t0002 a0001c0005t0010 a0001c0035t0004 a0001c0035t0009 a0001c0092t0012 a0002c0011t0004 a0002c0011t0012 a0002c0015t0004 a0002c0015t0031 a0002c0017t0015 a0002c0017t0026 a0002c0024t0008 a0002c0025t0007 a0002c0025t0008 a0002c0033t0002 a0002c0037t0011 a0002c0059t0001 a0002c0074t0027 a0002c0075t0027 a0003c0002t0010 a0003c0002t0028 a0003c0002t0050 a0003c0009t0006 a0003c0009t0051 a0004c0008t0006 a0004c0008t0028 a0004c0029t0005 a0004c0064t0007 a0004c0066t0008 a0004c0087t0009 a0004c0098t0005 a0004c0099t0001 a0004c0114t0005 a0005c0014t0006 a0005c0016t0001 a0005c0016t0011 a0005c0026t0009 a0005c0036t0001 a0005c0051t0019 a0005c0052t0001 a0006c0004t0002 a0006c0004t0006 a0006c0004t0011 a0006c0012t0010 a0007c0003t0003 a0007c0003t0006 a0007c0003t0009 a0008c0006t0001 a0008c0006t0007 a0008c0006t0047 a0008c0049t0004 a0009c0021t0001 a0009c0027t0004 a0009c0027t0006 a0009c0028t0009 a0009c0028t0048 a0010c0007t0010 a0011c0040t0040 a0011c0041t0002 a0012c0010t0005 a0014c0054t0010 a0016c0019t0006 a0019c0100t0009 a0020c0106t0001 a0029c0073t0019 a0036c0067t0006	a0001c0001t0004g0250 a0001c0001t0006g0258 a0001c0001t0006g0280 others(76): Show a0001c0001t0004g0250 a0001c0001t0006g0258 a0001c0001t0006g0280 a0001c0001t0006g0294 a0001c0001t0012g0036 a0001c0001t0012g0147 a0001c0005t0002g0028 a0001c0005t0010g0040 a0001c0035t0004g0012 a0001c0035t0009g0072 a0001c0092t0012g0275 a0002c0011t0004g0113 a0002c0011t0004g0269 a0002c0011t0012g0135 a0002c0015t0004g0005 a0002c0015t0031g0085 a0002c0017t0015g0104 a0002c0017t0026g0190 a0002c0024t0008g0110 a0002c0025t0007g0292 a0002c0025t0008g0199 a0002c0033t0002g0302 a0002c0037t0011g0126 a0002c0059t0001g0290 a0002c0074t0027g0214 a0002c0075t0027g0153 a0003c0002t0010g0184 a0003c0002t0028g0175 a0003c0002t0050g0069 a0003c0009t0006g0241 a0003c0009t0051g0148 a0004c0008t0006g0257 a0004c0008t0028g0254 a0004c0029t0005g0024 a0004c0064t0007g0230 a0004c0066t0008g0008 a0004c0087t0009g0118 a0004c0098t0005g0304 a0004c0099t0001g0111 a0004c0114t0005g0305 a0005c0014t0006g0049 a0005c0016t0001g0010 a0005c0016t0001g0011 a0005c0016t0001g0046 a0005c0016t0011g0076 a0005c0026t0009g0077 a0005c0036t0001g0092 a0005c0051t0019g0210 a0005c0052t0001g0195 a0006c0004t0002g0134 a0006c0004t0006g0161 a0006c0004t0011g0183 a0006c0012t0010g0253 a0007c0003t0003g0284 a0007c0003t0006g0048 a0007c0003t0009g0173 a0007c0003t0009g0174 a0008c0006t0001g0088 a0008c0006t0007g0112 a0008c0006t0047g0053 a0008c0049t0004g0099 a0009c0021t0001g0229 a0009c0027t0004g0124 a0009c0027t0006g0181 a0009c0027t0006g0279 a0009c0028t0009g0094 a0009c0028t0009g0095 a0009c0028t0048g0296 a0010c0007t0010g0141 a0011c0040t0040g0052 a0011c0041t0002g0285 a0012c0010t0005g0200 a0012c0010t0005g0224 a0014c0054t0010g0163 a0016c0019t0006g0162 a0019c0100t0009g0182 a0020c0106t0001g0096 a0029c0073t0019g0286 a0036c0067t0006g0278	79	124	0.6371	-13	c.66+ others(28): Show c.66+6890_66+6902delAAAAAAAAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2316324	GAAAAAAG others(6): Show GAAAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02258.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02258.hp1 HG02622.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp2 HG03579.hp2 HG03927.hp2 HG04228.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0022 a0001c0001 a0001c0003 a0007c0022	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0007c0022t0002	a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0003t0001g0226 others(7): Show a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0218 a0007c0022t0002g0203	10	249	0.0402	-13	c.111 others(30): Show c.1111+946_1111+958delTCTTTTCTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2343707	CCCTATCT others(6): Show CCCTATCTATCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	249	0.0040	-13	c.-36 others(24): Show c.-3686_-3674delATAGATAGATAGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2980		chr16	TogoVar
ABCA4_chr1_93987834_94126148	94120879	CCCACCCT others(6): Show CCCACCCTGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0006 a0011c0018t0001g0006	1	304	0.0033	-13	c.66+ others(25): Show c.66+88_66+100delTGGGGCAGGGTGG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94120887	GCCCCACC others(6): Show GCCCCACCACCCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG01891.hp2 HG02559.hp1	a0006 a0034 a0006 a0034	a0006c0076 a0034c0092 a0006c0076 a0034c0092	a0006c0076t0001 a0034c0092t0004 a0006c0076t0001 a0034c0092t0004	a0006c0076t0001g0136 a0034c0092t0004g0165 a0006c0076t0001g0136 a0034c0092t0004g0165	2	304	0.0066	-13	c.66+ others(24): Show c.66+80_66+92delTAGGGTGGTGGGG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69293871	TGCGTGTG others(6): Show TGCGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19063.hp2 HG03942.hp1 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0242 a0002c0001t0002g0286 a0002c0001t0002g0242 a0002c0001t0002g0286	2	320	0.0063	-13	c.149 others(30): Show c.1495+771_1495+783delCACACACACACGC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146194	TATATATA others(6): Show TATATATATACGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0159 a0013c0016t0001g0159	1	322	0.0031	-13	c.-45 others(24): Show c.-4508_-4496delTCCGTATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4300		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68904293	ATAATAAT others(6): Show ATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0187 a0001c0004t0001g0187	1	267	0.0037	-13	c.239 others(30): Show c.2399-807_2399-795delATTATTATTATTA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	19/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922190	CTCTCTTT others(6): Show CTCTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02523.hp1 HG03041.hp2 others(9): Show HG01516.hp2 HG02523.hp1 HG03041.hp2 NA18939.hp1 NA18950.hp1 NA18960.hp1 NA18973.hp2 NA18978.hp2 NA18987.hp2 NA18994.hp2 NA19000.hp2 NA19063.hp1	a0001 a0025 a0028 a0001 a0025 a0028	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0042 a0025c0036 a0028c0037	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0042t0001 a0025c0036t0001 a0028c0037t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0003t0001g0056 others(9): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0003t0001g0056 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0076 a0001c0003t0001g0086 a0001c0003t0002g0101 a0001c0004t0001g0209 a0001c0042t0001g0129 a0025c0036t0001g0157 a0028c0037t0001g0158	12	246	0.0488	-13	c.150 others(28): Show c.1501+39_1501+51delAAAAAAAAAGAGA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18906.hp2 HG02698.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0001 a0001c0011t0001 a0001c0004t0001 a0001c0011t0001	a0001c0004t0001g0187 a0001c0011t0001g0136 a0001c0004t0001g0187 a0001c0011t0001g0136	2	42	0.0476	-13	c.150 others(28): Show c.1501+35_1501+47delAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68952482	TGATTCAA others(6): Show TGATTCAATTTTCA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0141 a0001c0005t0001g0141	1	272	0.0037	-13	c.-16 others(32): Show c.-167+2724_-167+2736delTGAAAATTGAATC	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	1/39			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229524571	CACTTTAA others(6): Show CACTTTAAAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02895.hp2 HG01256.hp1 HG01258.hp1 HG02895.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0059 a0006c0007t0002g0060 a0006c0007t0002g0063 a0006c0007t0002g0059 a0006c0007t0002g0060 a0006c0007t0002g0063	3	282	0.0106	-13	c.190 others(32): Show c.1906+1352_1906+1364delATTTCTTTAAAGT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	10/12			chr1	TogoVar
ABCB10_chr1_229511582_229563707	229529295	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0030 a0002c0003t0003g0030	1	43	0.0233	-13	c.164 others(30): Show c.1645+891_1645+903delTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/12			chr1	TogoVar
ABCB5_chr7_20610667_20762008	20691168	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0009 a0010c0017t0003g0009	1	28	0.0357	-13	c.201 others(32): Show c.2010+5353_2010+5365delTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711832	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0339 a0004c0008t0005g0339	1	358	0.0028	-13	c.242 others(32): Show c.2421+7041_2421+7053delTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20717883	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0024 a0024	a0024c0087 a0024c0087	a0024c0087t0001 a0024c0087t0001	a0024c0087t0001g0083 a0024c0087t0001g0083	1	21	0.0476	-13	c.242 others(32): Show c.2422-5109_2422-5097delTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43429342	CTTCTTTC others(6): Show CTTCTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0039	1	340	0.0029	-13	c.161 others(30): Show c.161+1222_161+1234delTCTTTTCTTTCTT	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC1_chr16_15944616_16148053	16043295	TTTTTTTT others(6): Show TTTTTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01081.hp2 others(27): Show HG00323.hp1 HG00639.hp2 HG01081.hp2 HG01168.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp2 HG02080.hp2 HG02148.hp1 HG02300.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp2 NA18983.hp2 NA19002.hp2 NA19074.hp2 NA19082.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0001c0005 a0001c0006 others(8): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0014 a0001c0028 a0001c0029 a0002c0011 a0004c0025 a0006c0018 a0009c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0023 a0001c0006t0002 a0001c0008t0009 a0001c0014t0003 a0001c0028t0002 a0001c0029t0002 a0002c0011t0003 a0004c0025t0006 a0006c0018t0003 a0009c0027t0001	a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0125 others(27): Show a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0003g0061 a0001c0001t0003g0124 a0001c0001t0004g0118 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0007g0245 a0001c0001t0008g0002 a0001c0001t0010g0120 a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0005t0002g0064 a0001c0005t0002g0067 a0001c0005t0002g0074 a0001c0005t0003g0154 a0001c0005t0023g0244 a0001c0006t0002g0053 a0001c0006t0002g0243 a0001c0008t0009g0182 a0001c0014t0003g0149 a0001c0028t0002g0066 a0001c0029t0002g0203 a0002c0011t0003g0126 a0002c0011t0003g0130 a0004c0025t0006g0001 a0006c0018t0003g0123 a0009c0027t0001g0029	30	248	0.1210	-13	c.810 others(30): Show c.810-1147_810-1135delGTTTTGTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16053774	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	33	0.0303	-13	c.147 others(30): Show c.1473+986_1473+998delAAAAAAAAAAAAA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC3_chr17_50629881_50697253	50673997	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	301	0.0033	-13	c.259 others(30): Show c.2599+340_2599+352delCTCTCTCTCTCTC	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674260	TTTCACCA others(6): Show TTTCACCATGTTGG	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	340	0.0029	-13	c.259 others(30): Show c.2599+603_2599+615delTTCACCATGTTGG	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC4_chr13_95014835_95306451	95017022	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02965.hp1 others(3): Show HG02622.hp1 HG02622.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0001c0013 a0001c0017 others(3): Show a0001c0012 a0001c0013 a0001c0017 a0001c0024 a0002c0059 a0002c0064	a0001c0012t0006 a0001c0013t0006 a0001c0017t0006 others(3): Show a0001c0012t0006 a0001c0013t0006 a0001c0017t0006 a0001c0024t0006 a0002c0059t0006 a0002c0064t0006	a0001c0012t0006g0224 a0001c0013t0006g0029 a0001c0017t0006g0135 others(3): Show a0001c0012t0006g0224 a0001c0013t0006g0029 a0001c0017t0006g0135 a0001c0024t0006g0031 a0002c0059t0006g0061 a0002c0064t0006g0045	6	90	0.0667	-13	c.45 others(24): Show c.4540_*4552delTTTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding		2812		chr13	TogoVar
ABCC4_chr13_95014835_95306451	95054021	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02055.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0001c0022 a0002c0015 a0001c0010 a0001c0022 a0002c0015	a0001c0010t0024 a0001c0022t0011 a0002c0015t0011 a0001c0010t0024 a0001c0022t0011 a0002c0015t0011	a0001c0010t0024g0023 a0001c0022t0011g0035 a0002c0015t0011g0016 a0001c0010t0024g0023 a0001c0022t0011g0035 a0002c0015t0011g0016	3	21	0.1429	-13	c.336 others(30): Show c.3367-850_3367-838delAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95061593	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0004 a0002c0020t0004	a0002c0020t0004g0130 a0002c0020t0004g0130	1	245	0.0041	-13	c.336 others(32): Show c.3366+1098_3366+1110delCACACACACACAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95133108	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0002 a0008c0031t0002	a0008c0031t0002g0002 a0008c0031t0002g0002	1	163	0.0061	-13	c.245 others(34): Show c.2456-17120_2456-17108delAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar

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