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
CFD_chr19_854664_868641	864060	A A	ACACACAC others(17): Show ACACACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA19043.hp2 NA19066.hp2 others(1): Show HG03704.hp2 NA19043.hp2 NA19066.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0001g0068 a0001c0001t0002g0003	4	212	0.0189	24	c.82 others(33): Show c.822_*823insCACACACACACACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(17): Show ACACACACACACACACACACACGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	209	0.0048	24	c.82 others(33): Show c.822_*823insCACACACACACACACACACACGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	80	0.0125	24	c.59- others(37): Show c.59-719_59-696dupATATATATATATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01884.hp1 HG03831.hp1 others(3): Show HG01517.hp2 HG01884.hp1 HG03831.hp1 NA18943.hp1 NA18949.hp2 NA18977.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0002 a0004c0007t0007 a0002c0001t0002 a0004c0007t0007	a0002c0001t0002g0003 a0002c0001t0002g0048 a0002c0001t0002g0059 others(3): Show a0002c0001t0002g0003 a0002c0001t0002g0048 a0002c0001t0002g0059 a0002c0001t0002g0068 a0002c0001t0002g0069 a0004c0007t0007g0031	6	150	0.0400	24	c.-21 others(35): Show c.-2193_-2192insTATATATATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFHR3_chr1_196769840_196800407	196797800	C C	CTCTAGAA others(17): Show CTCTAGAATAAATCACTAGATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(117): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01361.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0001 a0007c0008 a0001c0002 a0002c0001 a0007c0008	a0001c0002t0001 a0002c0001t0002 a0002c0001t0003 others(6): Show a0001c0002t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0008 a0002c0001t0009 a0002c0001t0014 a0002c0001t0015 a0002c0001t0016 a0007c0008t0002	a0001c0002t0001g0110 a0002c0001t0002g0003 a0002c0001t0002g0004 others(60): Show a0001c0002t0001g0110 a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0023 a0002c0001t0002g0024 a0002c0001t0002g0025 a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0048 a0002c0001t0002g0049 a0002c0001t0002g0050 a0002c0001t0002g0051 a0002c0001t0002g0052 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0065 a0002c0001t0002g0066 a0002c0001t0002g0067 a0002c0001t0002g0068 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0071 a0002c0001t0002g0072 a0002c0001t0002g0074 a0002c0001t0002g0075 a0002c0001t0002g0076 a0002c0001t0002g0077 a0002c0001t0002g0078 a0002c0001t0002g0079 a0002c0001t0002g0080 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0003g0018 a0002c0001t0003g0026 a0002c0001t0003g0085 a0002c0001t0003g0086 a0002c0001t0003g0087 a0002c0001t0003g0088 a0002c0001t0008g0057 a0002c0001t0009g0003 a0002c0001t0014g0047 a0002c0001t0015g0014 a0002c0001t0016g0084 a0007c0008t0002g0073	120	260	0.4615	24	c.42 others(35): Show c.4287_*4288insTCTAGAATAAATCACTAGATAAAA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2394		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196915367	G G	GGGGGGGG others(17): Show GGGGGGGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	348	0.0029	24	c.154 others(41): Show c.1540+229_1540+230insGGGGGGGGGGGGGGGGGGGGGGGT	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding	9/9			chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18947.hp2 NA18972.hp2 HG01261.hp1 NA18947.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0050 a0001c0001t0001g0255 a0001c0001t0001g0259	3	126	0.0238	24	c.58+ others(39): Show c.58+6254_58+6255insTTTTTTTTTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0161 a0004c0004t0001g0161	1	136	0.0074	24	c.151 others(41): Show c.1519+752_1519+753insTATAGAGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	136	0.0074	24	c.151 others(41): Show c.1519+752_1519+753insTATATAGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	136	0.0074	24	c.151 others(41): Show c.1519+752_1519+753insTATATATAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp2 NA18522.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0010 a0006c0017 a0001c0010 a0006c0017	a0001c0010t0001 a0006c0017t0001 a0001c0010t0001 a0006c0017t0001	a0001c0010t0001g0277 a0006c0017t0001g0013 a0001c0010t0001g0277 a0006c0017t0001g0013	2	137	0.0146	24	c.151 others(41): Show c.1519+752_1519+753insTATATATATATATAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0304 a0010c0011t0001g0304	1	136	0.0074	24	c.151 others(41): Show c.1519+752_1519+753insTATATATATATATATATAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714701	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	137	0.0073	24	c.151 others(41): Show c.1519+802_1519+803insGAGAGGGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0095 a0004c0005t0001g0095	1	48	0.0208	24	c.904 others(39): Show c.904+851_904+874dupTTTCTTTCTTTCTTTCTTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(17): Show TAATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0109 a0001c0002t0002g0101 a0001c0002t0002g0109	2	299	0.0067	24	c.58- others(41): Show c.58-16988_58-16987insTATATATATATATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	154	0.0065	24	c.58- others(41): Show c.58-16989_58-16988insATATATATATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG02129.hp1 others(5): Show HG00438.hp2 HG01175.hp2 HG02129.hp1 HG02135.hp1 NA18941.hp2 NA18952.hp1 NA18978.hp2 NA19087.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0005t0018 a0002c0001t0001 a0002c0005t0018	a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0144 others(4): Show a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0144 a0002c0001t0001g0150 a0002c0001t0001g0239 a0002c0001t0001g0254 a0002c0005t0018g0237	8	36	0.2222	24	c.-13 others(35): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57410928	A A	AAATATGT others(17): Show AAATATGTGGTGTTGGTGTTTTCAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0269 a0002c0002t0003g0269	1	292	0.0034	24	c.-15 others(43): Show c.-15-27055_-15-27032dupATATGTGGTGTTGGTGTTTTCATA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151511435	T T	TGCCCGAG others(17): Show TGCCCGAGCCCGAGCCCGAGCCCGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18960.hp2 NA18942.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0062 a0001c0001t0019g0002 a0001c0001t0019g0062	2	31	0.0645	24	c.-70 others(31): Show c.-70_-47dupGCCCGAGCCCGAGCCCGAGCCCGA	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/21	7036	INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 NA19012.hp2 HG01175.hp2 HG01261.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0209 a0001c0001t0001g0272 a0001c0001t0006g0210 a0001c0001t0001g0209 a0001c0001t0001g0272 a0001c0001t0006g0210	3	159	0.0189	24	c.-12 others(41): Show c.-12+1951_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116872	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	24	c.-12 others(41): Show c.-12+1973_-12+1974insGGAGAGAGAGAGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01981.hp1 others(8): Show HG00438.hp2 HG00544.hp1 HG01981.hp1 HG02074.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp2 HG02735.hp2 NA18951.hp1 NA18964.hp2 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(5): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0080 a0001c0004t0001g0072	11	205	0.0537	24	c.-12 others(41): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18979.hp2 NA18966.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0027 a0001c0001t0008g0027 a0001c0001t0001g0027 a0001c0001t0008g0027	2	172	0.0116	24	c.571 others(41): Show c.571-2351_571-2328dupACACACACACACACACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4401608	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0229 a0012c0014t0001g0229	1	24	0.0417	24	c.-11 others(35): Show c.-1155_-1154insAAGGAAGGAAGGAAGGAAGGAAGG	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding		1031		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02895.hp1 HG02897.hp2 HG00423.hp2 HG02895.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0131 a0003c0004t0002g0335 a0003c0004t0002g0336 a0001c0001t0001g0131 a0003c0004t0002g0335 a0003c0004t0002g0336	3	46	0.0652	24	c.104 others(39): Show c.104-435_104-412dupTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0331	1	11	0.0909	24	c.960 others(41): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0253 a0001c0001t0001g0255	2	8	0.2500	24	c.137 others(43): Show c.1378-1520_1378-1497dupTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(17): Show TGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	145	0.0069	24	c.260 others(41): Show c.260-1750_260-1749insTGTGTGCGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(17): Show TGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0066 a0001c0001t0028g0066	1	145	0.0069	24	c.260 others(41): Show c.260-1750_260-1749insTGTGTGTGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36401352	A A	AATATATA others(17): Show AATATATATTTATATTATACATAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	323	0.0031	24	c.664 others(41): Show c.664-1400_664-1399insATTTATATTATACATAATATATAT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36401352	A A	AATATATT others(17): Show AATATATTTTTATATTATACATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(8): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01433.hp1 HG01517.hp1 HG01978.hp1 NA18963.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020	a0001c0001t0001g0016 a0001c0001t0001g0187 a0001c0001t0001g0188 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0249 a0001c0001t0007g0243 a0001c0001t0015g0070 a0001c0001t0020g0165	11	333	0.0330	24	c.664 others(41): Show c.664-1180_664-1157dupTATATTATACATAATATATATTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36401597	A A	ATTTTATA others(17): Show ATTTTATATTATACATAATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp1 others(15): Show HG00323.hp2 HG00642.hp1 HG00733.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01433.hp2 HG01928.hp1 HG02145.hp1 HG02622.hp2 HG02717.hp1 HG02976.hp2 HG03486.hp1 NA18612.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0007t0003 a0002c0002t0012 a0002c0002t0046 a0003c0003t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 others(14): Show a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0002g0081 a0001c0001t0002g0109 a0001c0001t0007g0136 a0001c0001t0007g0143 a0001c0001t0007g0155 a0001c0001t0014g0137 a0001c0007t0003g0151 a0002c0002t0012g0009 a0002c0002t0012g0145 a0002c0002t0046g0148 a0003c0003t0001g0063 a0003c0003t0001g0147 a0003c0003t0001g0255 a0003c0003t0001g0256	18	222	0.0811	24	c.664 others(41): Show c.664-1148_664-1125dupCATAATATATATTTTTATATTATA	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19070.hp1 NA18945.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0194 a0001c0001t0001g0144 a0001c0001t0001g0194	2	20	0.1000	24	c.369 others(43): Show c.369+19995_369+19996insACACACACACACACACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG01975.hp1 others(11): Show HG00733.hp2 HG01243.hp2 HG01975.hp1 HG02148.hp2 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp2 NA18944.hp2 NA18947.hp1 NA18988.hp1 NA19001.hp1 NA19006.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0158 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0004t0002g0041	14	32	0.4375	24	c.369 others(43): Show c.369+19972_369+19995dupACACACACACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	94	0.0106	24	c.369 others(43): Show c.369+11474_369+11475insGTGTGTGTGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132990951	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	117	0.0085	24	c.252 others(43): Show c.252-15689_252-15666dupGTGTGTGTGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD4_chr3_14107077_14129870	14109617	A A	ACCATAAC others(17): Show ACCATAACTGAAAATTTAATAGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	24	c.32 others(35): Show c.3269_*3270insATACTATTAAATTTTCAGTTATGG	CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding		2459		chr3	TogoVar
CHCHD4_chr3_14107077_14129870	14115969	A A	ACTCCTGC others(17): Show ACTCCTGCTGCTAGAAAGCTGTCTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19065.hp2 HG02135.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	413	0.0048	24	c.121 others(39): Show c.121+433_121+456dupCAGACAGCTTTCTAGCAGCAGGAG	CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding	2/2			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863509	A A	ACCTCCTC others(17): Show ACCTCCTCCTCCACCATCACCACCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02723.hp2 others(4): Show HG02258.hp1 HG02647.hp2 HG02723.hp2 HG02976.hp2 HG06807.hp2 NA19043.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0007 a0001c0001 a0001c0003 a0007c0007	a0001c0001t0001 a0001c0003t0001 a0007c0007t0004 a0001c0001t0001 a0001c0003t0001 a0007c0007t0004	a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0003t0001g0107 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0111 a0007c0007t0004g0216	7	214	0.0327	24	c.495 others(43): Show c.495+10812_495+10835dupTCCACCATCACCACCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126864931	A A	ACCTCCTC others(17): Show ACCTCCTCCTCCACCATCATCTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp2 HG02109.hp2 others(22): Show HG01167.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0008 others(1): Show a0001c0001 a0002c0002 a0006c0008 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0006c0008t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0008t0002 a0007c0007t0004	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0106 others(22): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0002c0002t0001g0067 a0002c0002t0001g0069 a0006c0008t0002g0098 a0007c0007t0004g0216	25	194	0.1289	24	c.495 others(43): Show c.495+12207_495+12230dupTCCTCCACCATCATCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126880620	A A	AGGGAGAC others(17): Show AGGGAGACCCACTCACACTATCTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG06807.hp1 HG02451.hp1 HG02723.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203	3	214	0.0140	24	c.495 others(43): Show c.495+27895_495+27918dupGACCCACTCACACTATCTGGGGGA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp2 HG02258.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0002 a0001c0003t0006 a0002c0002t0002	a0001c0003t0006g0067 a0002c0002t0002g0080 a0001c0003t0006g0067 a0002c0002t0002g0080	2	120	0.0167	24	c.54- others(39): Show c.54-6049_54-6048insATATATATATATATATATATATTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7884459	T T	TATATATA others(17): Show TATATATATATATATATGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	364	0.0027	24	c.-45 others(35): Show c.-4542_-4541insATATATATATATATATGTATATAC	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		4329		chr17	TogoVar
CHD3_chr17_7883789_7917755	7885030	C C	CGCCGCCG others(17): Show CGCCGCCGCCGCCGCCGCCACCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	364	0.0027	24	c.-39 others(35): Show c.-3971_-3970insGCCGCCGCCGCCGCCGCCACCGCT	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3758		chr17	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(17): Show CCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01515.hp2 others(1): Show HG00323.hp2 HG01106.hp2 HG01515.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0003t0001g0152	4	103	0.0388	24	c.-36 others(35): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD5_chr1_6096787_6185321	6132880	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0013 a0001c0041t0013	a0001c0041t0013g0251 a0001c0041t0013g0251	1	163	0.0061	24	c.314 others(43): Show c.3145-1156_3145-1133dupGAGAGAGAGAGAGAGAGAGAGAGA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	20/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6140967	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG03195.hp2 HG01243.hp1 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0013 a0001c0026 a0001c0029 a0001c0013 a0001c0026 a0001c0029	a0001c0013t0003 a0001c0026t0003 a0001c0029t0077 a0001c0013t0003 a0001c0026t0003 a0001c0029t0077	a0001c0013t0003g0155 a0001c0026t0003g0065 a0001c0029t0077g0310 a0001c0013t0003g0155 a0001c0026t0003g0065 a0001c0029t0077g0310	3	61	0.0492	24	c.243 others(43): Show c.2436+1137_2436+1160dupATTATTATTATTATTATTATTATT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	15/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	27	0.0370	24	c.612 others(41): Show c.6127+930_6127+953dupTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19000.hp2 NA20905.hp1 HG02723.hp2 NA19000.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0002t0001g0274 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0002t0001g0274	3	123	0.0244	24	c.853 others(41): Show c.853-4744_853-4721dupTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp2 HG02280.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0062 a0001c0001t0007g0115 a0001c0001t0001g0062 a0001c0001t0007g0115	2	35	0.0571	24	c.-16 others(43): Show c.-164-9489_-164-9488insTATATATATATATATATATATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar

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