Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATIC_chr2_215307059_215354764	215352385	CAGCCTGG others(11): Show CAGCCTGGCCAACATAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	380	0.0026	-18	c.27 others(29): Show c.2731_*2748delAGCCTGGCCAACATAGTG		ATIC	ENSG00000138363.15	transcript	ENST00000236959.14	protein_coding					2622		chr2	TogoVar
ATL2_chr2_38288954_38382273	38325661	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	134	0.0075	-18	c.364 others(35): Show c.364-6660_364-6643delGTGTGTGTGTGTGTGTGT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATM_chr11_108218067_108374102	108317640	TATATATA others(11): Show TATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0035 a0002c0009t0035	a0002c0009t0035g0105 a0002c0009t0035g0105	1	298	0.0034	-18	c.634 others(35): Show c.6347+121_6347+138delTATATATATATACACACA		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATN1_chr12_6922959_6947321	6928065	CCGGGCGG others(11): Show CCGGGCGGCGCGGCGGGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0004 a0001c0002t0008g0004	1	412	0.0024	-18	c.-46 others(27): Show c.-468_-451delGGGGGCGGGCGGCGCGGC		ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	1/10				5906	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(11): Show ACAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp2 HG02258.hp2 HG02809.hp2 others(7): Show HG02135.hp2 HG02258.hp2 HG02809.hp2 HG02965.hp2 HG04115.hp2 NA18522.hp2 NA19074.hp1 NA19076.hp1 NA19085.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0008t0006	a0001c0001t0001g0043 a0001c0001t0005g0017 a0001c0001t0005g0050 others(3): Show a0001c0001t0001g0043 a0001c0001t0005g0017 a0001c0001t0005g0050 a0001c0001t0006g0022 a0001c0008t0006g0022 a0001c0008t0006g0049	10	131	0.0763	-18	c.149 others(27): Show c.1491_1508delGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln497_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2079/4702	1491/3573	497/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP10A_chr15_25673712_25868327	25730311	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02559.hp2 others(10): Show HG01884.hp1 HG02145.hp2 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA19043.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0017 a0045	a0001c0001 a0001c0019 a0003c0003 others(3): Show a0001c0001 a0001c0019 a0003c0003 a0006c0066 a0017c0023 a0045c0049	a0001c0001t0001 a0001c0019t0003 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0019t0003 a0003c0003t0001 a0003c0003t0003 a0006c0066t0001 a0017c0023t0001 a0045c0049t0001	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0208 others(10): Show a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0019t0003g0003 a0003c0003t0001g0034 a0003c0003t0003g0001 a0006c0066t0001g0035 a0017c0023t0001g0232 a0045c0049t0001g0175	13	298	0.0436	-18	c.741 others(35): Show c.741-3063_741-3046delCTTTTTTTTTTTTTTTTT		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	3/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25750704	TATGATGA others(11): Show TATGATGATGATGATGATG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0044 a0044	a0044c0051 a0044c0051	a0044c0051t0001 a0044c0051t0001	a0044c0051t0001g0024 a0044c0051t0001g0024	1	4	0.2500	-18	c.655 others(37): Show c.655-14581_655-14564delCATCATCATCATCATCAT		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25847609	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19240.hp1 HG03041.hp1 NA19240.hp1	a0009 a0051 a0009 a0051	a0009c0045 a0051c0041 a0009c0045 a0051c0041	a0009c0045t0001 a0051c0041t0001 a0009c0045t0001 a0051c0041t0001	a0009c0045t0001g0049 a0051c0041t0001g0171 a0009c0045t0001g0049 a0051c0041t0001g0171	2	10	0.2000	-18	c.449 others(37): Show c.449+15021_449+15038delAAAAAAAAAAAAAAAAAA		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20						chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653364	ACGTACAT others(11): Show ACGTACATACATACATAGG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	234	0.0043	-18	c.676 others(35): Show c.676-4126_676-4109delCCTATGTATGTATGTACG		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160693403	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03492.hp2 HG03688.hp2 others(1): Show HG02976.hp2 HG03492.hp2 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0009 a0001c0011t0025 a0001c0001t0001 a0001c0001t0009 a0001c0011t0025	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0009g0101 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0009g0101 a0001c0011t0025g0028	4	41	0.0976	-18	c.-20 others(37): Show c.-204-4478_-204-4461delGTGTGTGTGTGTGTGTGT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160755824	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0098 a0002c0003t0006g0098	1	231	0.0043	-18	c.-33 others(39): Show c.-331+29717_-331+29734delATATTTTTTTTTTTTTTT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160755830	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(15): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01884.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 NA19043.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0016	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0028 a0001c0029 a0002c0003 a0002c0004 a0005c0017 a0006c0018 a0016c0030	a0001c0001t0001 a0001c0001t0008 a0001c0002t0007 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0007 a0001c0006t0031 a0001c0008t0019 a0001c0028t0008 a0001c0029t0047 a0002c0003t0005 a0002c0003t0006 a0002c0004t0008 a0005c0017t0040 a0006c0018t0034 a0016c0030t0030	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 others(15): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0228 a0001c0001t0008g0172 a0001c0002t0007g0224 a0001c0002t0007g0225 a0001c0006t0031g0194 a0001c0008t0019g0029 a0001c0028t0008g0030 a0001c0029t0047g0219 a0002c0003t0005g0192 a0002c0003t0005g0214 a0002c0003t0006g0220 a0002c0004t0008g0221 a0005c0017t0040g0034 a0006c0018t0034g0208 a0016c0030t0030g0217	18	218	0.0826	-18	c.-33 others(39): Show c.-331+29711_-331+29728delATATATATATTTTTTTTT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160783562	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0025 a0002c0003t0005g0025	1	70	0.0143	-18	c.-33 others(37): Show c.-331+1979_-331+1996delGTGTGTGTGTGTGTGTGT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160787105	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02976.hp2 others(1): Show HG02717.hp1 HG02818.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011	a0001c0001t0002 a0001c0002t0010 a0001c0005t0012 others(1): Show a0001c0001t0002 a0001c0002t0010 a0001c0005t0012 a0001c0011t0025	a0001c0001t0002g0006 a0001c0002t0010g0005 a0001c0005t0012g0002 others(1): Show a0001c0001t0002g0006 a0001c0002t0010g0005 a0001c0005t0012g0002 a0001c0011t0025g0028	4	64	0.0625	-18	c.-57 others(37): Show c.-575-1320_-575-1303delGTGTGTGTGTGTGTGTGT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160812014	CAGAGACA others(11): Show CAGAGACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03710.hp2 HG03942.hp2 HG02083.hp2 HG03710.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0004 a0001c0001t0001 a0001c0001t0002 a0002c0004t0004	a0001c0001t0001g0159 a0001c0001t0002g0153 a0002c0004t0004g0146 a0001c0001t0001g0159 a0001c0001t0002g0153 a0002c0004t0004g0146	3	170	0.0176	-18	c.-57 others(39): Show c.-575-26229_-575-26212delCTCTCTCTCTCTGTCTCT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160822989	CATATATA others(11): Show CATATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0049 a0002c0004t0008g0049	1	131	0.0076	-18	c.-57 others(39): Show c.-576+28934_-576+28951delATATATGTATATATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25						chr5	TogoVar
ATP10D_chr4_47480275_47598486	47528458	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01243.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG01243.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp2 NA18950.hp2 NA19240.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0016 a0002c0008 a0015c0018 a0001c0016 a0002c0008 a0015c0018	a0001c0016t0002 a0002c0008t0002 a0015c0018t0010 a0001c0016t0002 a0002c0008t0002 a0015c0018t0010	a0001c0016t0002g0295 a0001c0016t0002g0296 a0001c0016t0002g0297 others(5): Show a0001c0016t0002g0295 a0001c0016t0002g0296 a0001c0016t0002g0297 a0002c0008t0002g0294 a0002c0008t0002g0298 a0015c0018t0010g0267 a0015c0018t0010g0283 a0015c0018t0010g0302	8	86	0.0930	-18	c.776 others(35): Show c.776+2855_776+2872delGTGTGTGTGTGTGTGTGT		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP10D_chr4_47480275_47598486	47528497	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0038 a0006c0007t0001g0038	1	298	0.0034	-18	c.776 others(35): Show c.776+2857_776+2874delGTGTGTGTGTGTGTGTAT		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112719379	TTGAAACA others(11): Show TTGAAACACTTTTAAAATG	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0170 a0003c0008t0001g0170	1	252	0.0040	-18	c.39+ others(35): Show c.39+28926_39+28943delGAAACACTTTTAAAATGT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11B_chr3_182788504_182926629	182854752	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(34): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG03540.hp1 HG03688.hp2 HG03834.hp1 HG06807.hp2 NA18949.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA19054.hp1 NA19060.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 others(5): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0004c0005t0006	a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0002t0004g0009 others(32): Show a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0123 a0001c0002t0004g0270 a0001c0002t0004g0271 a0001c0002t0004g0279 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0004g0290 a0001c0002t0004g0291 a0001c0002t0004g0292 a0001c0002t0004g0293 a0001c0002t0004g0295 a0001c0002t0004g0296 a0001c0002t0004g0298 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0006g0280 a0001c0002t0006g0281 a0001c0002t0006g0299 a0001c0002t0006g0302 a0001c0002t0010g0268 a0001c0002t0010g0269 a0001c0002t0010g0289 a0001c0002t0019g0294 a0001c0002t0021g0288 a0001c0002t0022g0283 a0004c0005t0006g0282 a0004c0005t0006g0300 a0004c0005t0006g0301	37	56	0.6607	-18	c.852 others(35): Show c.852-3095_852-3078delACACACACACACACACAC		ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding	10/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11C_chrX_139721348_139938053	139742874	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp1 NA18953.hp1 others(1): Show HG02071.hp1 HG02083.hp1 NA18953.hp1 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0054 others(1): Show a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0054 a0001c0003t0002g0059	4	194	0.0206	-18	c.303 others(35): Show c.3030+667_3030+684delATATATATATATATATTT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	26/29						chrX	TogoVar
ATP11C_chrX_139721348_139938053	139742876	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG03195.hp2 HG02257.hp2 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021	a0001c0001t0004g0062 a0001c0001t0010g0036 a0001c0001t0021g0035 a0001c0001t0004g0062 a0001c0001t0010g0036 a0001c0001t0021g0035	3	190	0.0158	-18	c.303 others(35): Show c.3030+665_3030+682delATATATATATATATATAT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	26/29						chrX	TogoVar
ATP11C_chrX_139721348_139938053	139922223	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02896.hp1 HG01243.hp1 HG02630.hp1 HG02896.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0011 a0001c0001t0027 a0003c0004t0004 a0001c0001t0011 a0001c0001t0027 a0003c0004t0004	a0001c0001t0011g0227 a0001c0001t0027g0226 a0003c0004t0004g0198 a0001c0001t0011g0227 a0001c0001t0027g0226 a0003c0004t0004g0198	3	13	0.2308	-18	c.27+ others(33): Show c.27+9775_27+9792delATATATATATATATATAT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29						chrX	TogoVar
ATP12A_chr13_24675408_24717472	24681327	GCTGGCTG others(11): Show GCTGGCTGGCCTGTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	380	0.0026	-18	c.10- others(31): Show c.10-233_10-216delTGGCTGGCCTGTGCCCAC		ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A1_chr19_19640198_19668676	19666607	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG03209.hp2 HG01516.hp1 HG01517.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0085 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0001t0001g0085 a0001c0007t0001g0052 a0001c0007t0001g0053	3	64	0.0469	-18	c.-29 others(29): Show c.-2959_-2942delAAAAAAAAAAAAAAAAAA		ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding					2932		chr19	TogoVar
ATP13A4_chr3_193393967_193559895	193418121	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 HG02148.hp2 others(3): Show HG01175.hp2 HG01261.hp1 HG02148.hp2 HG04184.hp2 HG04199.hp2 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0015 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0002g0237 others(3): Show a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0002g0237 a0001c0004t0015g0273 a0002c0002t0001g0034 a0002c0002t0002g0081	6	67	0.0896	-18	c.284 others(37): Show c.2843-3389_2843-3372delTTTTTTTTTTTTTTTTTT		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	25/29						chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193545973	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(117): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA19001.hp2 NA19003.hp2 NA19054.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0001c0020 a0002c0002 a0002c0003 a0002c0007 a0003c0005 a0004c0009 a0005c0010 a0008c0016 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0026 a0001c0004t0001 a0001c0004t0003 a0001c0004t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0020t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0019 a0002c0003t0028 a0002c0003t0029 a0002c0007t0004 a0003c0005t0001 a0004c0009t0001 a0005c0010t0001 a0005c0010t0003 a0005c0010t0023 a0008c0016t0020 a0009c0021t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0120 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0146 a0001c0001t0002g0159 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0202 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0254 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0170 a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0205 a0001c0001t0003g0211 a0001c0001t0003g0240 a0001c0001t0003g0253 a0001c0001t0004g0123 a0001c0001t0004g0192 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0231 a0001c0001t0005g0147 a0001c0001t0005g0243 a0001c0001t0005g0257 a0001c0001t0006g0191 a0001c0001t0009g0142 a0001c0001t0009g0248 a0001c0001t0011g0157 a0001c0001t0014g0221 a0001c0001t0017g0174 a0001c0001t0026g0235 a0001c0004t0001g0286 a0001c0004t0003g0166 a0001c0004t0007g0148 a0001c0006t0001g0176 a0001c0006t0001g0200 a0001c0006t0001g0222 a0001c0006t0002g0241 a0001c0006t0003g0177 a0001c0020t0012g0175 a0002c0002t0001g0285 a0002c0002t0002g0210 a0002c0002t0005g0196 a0002c0002t0008g0118 a0002c0003t0001g0117 a0002c0003t0001g0119 a0002c0003t0001g0122 a0002c0003t0001g0195 a0002c0003t0002g0116 a0002c0003t0003g0155 a0002c0003t0003g0169 a0002c0003t0004g0115 a0002c0003t0019g0121 a0002c0003t0028g0206 a0002c0003t0029g0165 a0002c0007t0004g0201 a0003c0005t0001g0287 a0004c0009t0001g0002 a0004c0009t0001g0172 a0005c0010t0001g0258 a0005c0010t0003g0181 a0005c0010t0023g0197 a0008c0016t0020g0184 a0009c0021t0005g0198	120	160	0.7500	-18	c.60+ others(33): Show c.60+8749_60+8766delCACACACACACACACACA		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29						chr3	TogoVar
ATP1A3_chr19_41961582_41999230	41967983	AAGACAGG others(11): Show AAGACAGGGACAGACACAG	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	280	0.0036	-18	c.282 others(35): Show c.2820-238_2820-221delCTGTGTCTGTCCCTGTCT		ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	20/22						chr19	TogoVar
ATP1A3_chr19_41961582_41999230	41983579	AATAATAA others(11): Show AATAATAATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	280	0.0036	-18	c.993 others(35): Show c.993+1321_993+1338delAATAATAATAATTATTAT		ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	8/22						chr19	TogoVar
ATP1B3_chr3_141871643_141931549	141874779	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	14	0.0714	-18	c.-20 others(29): Show c.-2022_-2005delTTTTTTTTTTTTTTTTTT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					1863		chr3	TogoVar
ATP2A1_chr16_28873488_28909466	28880524	GCTGCGGG others(11): Show GCTGCGGGGGCCAGACCGC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	378	0.0053	-18	c.220 others(33): Show c.220-385_220-368delGGGGCCAGACCGCCTGCG		ATP2A1	ENSG00000196296.14	transcript	ENST00000395503.9	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2A3_chr17_3918873_3969437	3966363	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp1 others(37): Show HG00140.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18906.hp1 NA18940.hp1 NA18970.hp2 NA18979.hp1 NA19003.hp1 NA19056.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0020 a0001c0027 a0001c0032 a0001c0038 a0002c0006 a0002c0016 a0007c0030	a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 others(23): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0017 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0007t0014 a0001c0007t0030 a0001c0009t0001 a0001c0020t0002 a0001c0027t0002 a0001c0032t0028 a0001c0038t0033 a0002c0006t0010 a0002c0016t0007 a0007c0030t0001	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0024g0132 others(36): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0024g0132 a0001c0002t0001g0131 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0291 a0001c0002t0004g0138 a0001c0002t0008g0010 a0001c0002t0008g0137 a0001c0002t0008g0139 a0001c0002t0015g0127 a0001c0002t0015g0128 a0001c0002t0017g0020 a0001c0003t0001g0079 a0001c0003t0003g0008 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0081 a0001c0003t0004g0080 a0001c0003t0004g0099 a0001c0004t0001g0043 a0001c0004t0004g0101 a0001c0005t0001g0033 a0001c0005t0002g0032 a0001c0005t0004g0109 a0001c0007t0014g0134 a0001c0007t0030g0133 a0001c0009t0001g0083 a0001c0009t0001g0108 a0001c0020t0002g0058 a0001c0027t0002g0041 a0001c0032t0028g0054 a0001c0038t0033g0299 a0002c0006t0010g0006 a0002c0016t0007g0123 a0002c0016t0007g0136 a0007c0030t0001g0062	40	65	0.6154	-18	c.-20 others(29): Show c.-2090_-2073delAAAAAAAAAAAAAAAAAA		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding					1927		chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89643160	GTATGTAT others(11): Show GTATGTATGTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	330	0.0030	-18	c.209 others(33): Show c.209-823_209-806delTACATATATACATACATA		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	2/20						chr12	TogoVar
ATP2B2_chr3_10319023_10510586	10319761	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG02280.hp1 others(11): Show HG00639.hp2 HG01109.hp2 HG02280.hp1 HG02486.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03540.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0001c0016 a0001c0019 a0001c0021	a0001c0001t0015 a0001c0002t0007 a0001c0003t0007 others(6): Show a0001c0001t0015 a0001c0002t0007 a0001c0003t0007 a0001c0011t0007 a0001c0012t0018 a0001c0016t0007 a0001c0016t0018 a0001c0019t0018 a0001c0021t0007	a0001c0001t0015g0162 a0001c0002t0007g0058 a0001c0003t0007g0191 others(10): Show a0001c0001t0015g0162 a0001c0002t0007g0058 a0001c0003t0007g0191 a0001c0003t0007g0192 a0001c0011t0007g0002 a0001c0011t0007g0021 a0001c0011t0007g0032 a0001c0011t0007g0199 a0001c0012t0018g0208 a0001c0016t0007g0248 a0001c0016t0018g0216 a0001c0019t0018g0187 a0001c0021t0007g0212	14	101	0.1386	-18	c.90 others(29): Show c.9035_*9052delTCTCTCTCTCTCTCTCTC		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding					4261		chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10356074	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20805.hp2 HG01255.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0197 a0001c0004t0004g0026 a0001c0001t0003g0197 a0001c0004t0004g0026	2	244	0.0082	-18	c.213 others(37): Show c.2136+2599_2136+2616delTTTTTTTTTTTTTTTTTT		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22						chr3	TogoVar
ATP2B3_chrX_153512642_153587929	153513428	ATGTGTGT others(11): Show ATGTGTGTGTATATGTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02040.hp1 HG02109.hp2 others(28): Show HG01884.hp1 HG02040.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp2 HG03041.hp2 HG03453.hp2 HG03486.hp1 NA18939.hp1 NA18945.hp1 NA18951.hp1 NA18971.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19062.hp1 NA19065.hp2 NA19082.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0016 a0001c0017 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0042 a0001c0001t0046 a0001c0002t0001 a0001c0002t0017 a0001c0003t0002 a0001c0003t0007 a0001c0004t0009 a0001c0015t0009 a0001c0016t0020 a0001c0017t0025 a0003c0009t0005	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(26): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0210 a0001c0001t0004g0018 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0021g0222 a0001c0001t0028g0232 a0001c0001t0032g0206 a0001c0001t0036g0214 a0001c0001t0042g0078 a0001c0001t0046g0079 a0001c0002t0001g0019 a0001c0002t0001g0072 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0017g0071 a0001c0003t0002g0080 a0001c0003t0007g0223 a0001c0004t0009g0231 a0001c0015t0009g0221 a0001c0016t0020g0070 a0001c0017t0025g0226 a0003c0009t0005g0076	31	265	0.1170	-18	c.-46 others(29): Show c.-4693_-4676delTGTGTGTGTATATGTTTC		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					4213		chrX	TogoVar
ATP2B4_chr1_203621832_203749081	203626272	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0029 a0001c0023t0060 a0001c0001t0029 a0001c0023t0060	a0001c0001t0029g0011 a0001c0023t0060g0019 a0001c0001t0029g0011 a0001c0023t0060g0019	2	68	0.0294	-18	c.-14 others(29): Show c.-1411_-1394delGTGTGTGTGTGTGTGTGT		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding					559		chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130902284	GTTTTTTT others(11): Show GTTTTTTTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02523.hp1 HG01891.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0314 a0001c0001t0001g0091 a0001c0001t0001g0314	2	121	0.0165	-18	c.6+7 others(31): Show c.6+7522_6+7539delGTTTTTTTTTTTTTTTTT		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130941223	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	102	0.0098	-18	c.423 others(33): Show c.423-343_423-326delGTGTGTGTGTGTGTGTGT		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP5F1A_chr18_46075248_46103296	46092180	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 HG03225.hp2 others(2): Show HG02615.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0070 others(1): Show a0001c0001t0004 a0001c0001t0034 a0001c0001t0070 a0001c0001t0071	a0001c0001t0004g0211 a0001c0001t0034g0189 a0001c0001t0034g0190 others(2): Show a0001c0001t0004g0211 a0001c0001t0034g0189 a0001c0001t0034g0190 a0001c0001t0070g0137 a0001c0001t0071g0134	5	53	0.0943	-18	c.140 others(33): Show c.140-347_140-330delATTATTATTATTATTATT		ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11						chr18	TogoVar
ATP5MC2_chr12_53660170_53681083	53667952	CACACATA others(11): Show CACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18952.hp1 HG01515.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0138 a0001c0001t0001g0153	2	228	0.0088	-18	c.311 others(35): Show c.311+1178_311+1195delATATATATATATATGTGT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4						chr12	TogoVar
ATP5ME_chr4_667436_679276	668487	ACTACCCC others(11): Show ACTACCCCATGCTATTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-18	c.39 others(29): Show c.3995_*4012delGGGAATAGCATGGGGTAG		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3948		chr4	TogoVar
ATP5ME_chr4_667436_679276	668734	GCCATGCT others(11): Show GCCATGCTATTCCCCTACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0019	2	392	0.0051	-18	c.37 others(29): Show c.3748_*3765delGGTAGGGGAATAGCATGG		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3701		chr4	TogoVar
ATP5ME_chr4_667436_679276	668891	TTCCCCTA others(11): Show TTCCCCTACCCCATGCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	392	0.0077	-18	c.35 others(29): Show c.3591_*3608delGCAGCATGGGGTAGGGGA		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3544		chr4	TogoVar
ATP5ME_chr4_667436_679276	669225	TTCCCCTA others(11): Show TTCCCCTACCCTATGCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp1 others(68): Show HG00140.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02965.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18960.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19056.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0002g0013	71	392	0.1811	-18	c.32 others(29): Show c.3257_*3274delGCAGCATAGGGTAGGGGA		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3210		chr4	TogoVar
ATP5ME_chr4_667436_679276	669416	GCTACCCC others(11): Show GCTACCCCATGCTATTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	389	0.0026	-18	c.30 others(29): Show c.3066_*3083delGGGAATAGCATGGGGTAG		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3019		chr4	TogoVar
ATP5MGL_chr22_42634803_42645601	42643551	CTCCATGC others(11): Show CTCCATGCTGGGTGCAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	372	0.0027	-18	c.-32 others(29): Show c.-3295_-3278delAGCTGCACCCAGCATGGA		ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding					2951		chr22	TogoVar
ATP6V0A4_chr7_138701294_138803196	138702249	CCGAGGTG others(11): Show CCGAGGTGGGCAGATCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0030 a0001c0001t0014g0376 a0001c0001t0002g0030 a0001c0001t0014g0376	2	374	0.0053	-18	c.43 others(29): Show c.4357_*4374delAGTGATCTGCCCACCTCG		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding					4044		chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138702250	CGAGGTGG others(11): Show CGAGGTGGGCAGATCACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00558.hp1 others(54): Show HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00733.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01891.hp1 HG01891.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18942.hp2 NA18950.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18979.hp2 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0005 a0001c0007 others(14): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0021 a0002c0002 a0002c0003 a0002c0012 a0002c0019 a0003c0004 a0003c0033 a0003c0037 a0004c0015 a0004c0018 a0005c0006 a0007c0017 a0008c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0001c0007t0001 a0001c0007t0002 a0001c0010t0002 a0001c0010t0004 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0012t0004 a0002c0019t0004 a0003c0004t0002 a0003c0004t0008 a0003c0004t0011 a0003c0033t0004 a0003c0037t0009 a0004c0015t0001 a0004c0018t0002 a0005c0006t0001 a0007c0017t0001 a0008c0024t0002	a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 others(54): Show a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0122 a0001c0001t0001g0220 a0001c0001t0001g0282 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0355 a0001c0001t0002g0151 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0240 a0001c0001t0002g0286 a0001c0001t0002g0331 a0001c0001t0004g0352 a0001c0001t0008g0061 a0001c0001t0010g0242 a0001c0005t0001g0348 a0001c0005t0002g0359 a0001c0005t0004g0177 a0001c0005t0005g0067 a0001c0007t0001g0317 a0001c0007t0002g0160 a0001c0010t0002g0363 a0001c0010t0004g0172 a0001c0021t0001g0195 a0001c0021t0001g0196 a0002c0002t0001g0088 a0002c0002t0001g0113 a0002c0002t0001g0186 a0002c0002t0002g0081 a0002c0002t0002g0189 a0002c0002t0004g0117 a0002c0003t0001g0165 a0002c0003t0002g0065 a0002c0012t0004g0346 a0002c0019t0004g0107 a0003c0004t0002g0354 a0003c0004t0008g0068 a0003c0004t0011g0371 a0003c0033t0004g0364 a0003c0037t0009g0345 a0004c0015t0001g0183 a0004c0015t0001g0358 a0004c0018t0002g0094 a0005c0006t0001g0009 a0005c0006t0001g0051 a0005c0006t0001g0332 a0007c0017t0001g0311 a0008c0024t0002g0323 a0008c0024t0002g0324	57	374	0.1524	-18	c.43 others(29): Show c.4356_*4373delAAGTGATCTGCCCACCTC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding					4043		chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718279	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG02027.hp1 others(19): Show HG00423.hp2 HG00544.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp2 NA18943.hp1 NA18947.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18999.hp1 NA19010.hp1 NA19011.hp1 NA19074.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0014 a0002c0002 others(3): Show a0001c0001 a0001c0014 a0002c0002 a0002c0012 a0003c0004 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0003c0004t0001 a0004c0011t0001	a0001c0001t0001g0079 a0001c0001t0001g0106 a0001c0001t0001g0124 others(19): Show a0001c0001t0001g0079 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0169 a0001c0001t0001g0255 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0002g0331 a0001c0014t0001g0307 a0002c0002t0001g0055 a0002c0002t0001g0086 a0002c0002t0001g0131 a0002c0002t0001g0275 a0002c0002t0001g0284 a0002c0002t0001g0303 a0002c0002t0001g0342 a0002c0002t0001g0369 a0002c0002t0002g0189 a0002c0012t0001g0042 a0003c0004t0001g0287 a0004c0011t0001g0262 a0004c0011t0001g0306	22	146	0.1507	-18	c.214 others(37): Show c.2140-2416_2140-2399delACACACACACACACACAC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar

Search by Variant

Search

Search Results