Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP11A_chr13_112685038_112892168	112778701	G G	GTAGCCGC others(25): Show GTAGCCGCTGGAGTGAGGAGTAGCCGCTGGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0042 a0001c0002t0034g0042	1	254	0.0039	32	c.40- others(47): Show c.40-6434_40-6433insTAGCCGCTGGAGTGAGGAGTAGCCGCTGGA GT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804073	C C	CCTTTTCC others(25): Show CCTTTTCCTCCTTCCTCTCCTTCCCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0038 a0001c0024t0038	a0001c0024t0038g0043 a0001c0024t0038g0043	1	254	0.0039	32	c.163 others(47): Show c.163-883_163-882insTTTTCCTCCTTCCTCTCCTTCCCCTCCTTT TC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840203	G G	GTCCAGCC others(25): Show GTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp2 HG02970.hp2 others(1): Show HG01261.hp1 HG02886.hp2 HG02970.hp2 NA18942.hp1	a0001 a0014 a0001 a0014	a0001c0005 a0001c0044 a0001c0045 others(1): Show a0001c0005 a0001c0044 a0001c0045 a0014c0023	a0001c0005t0017 a0001c0044t0045 a0001c0045t0014 others(1): Show a0001c0005t0017 a0001c0044t0045 a0001c0045t0014 a0014c0023t0002	a0001c0005t0017g0099 a0001c0044t0045g0133 a0001c0045t0014g0254 others(1): Show a0001c0005t0017g0099 a0001c0044t0045g0133 a0001c0045t0014g0254 a0014c0023t0002g0064	4	254	0.0158	32	c.170 others(51): Show c.1706-1971_1706-1940dupCCTCAGCCTCCCCACTCTCCCGTGCC CTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840204	T T	TCCAGCCT others(25): Show TCCAGCCTCAGCCTCCCCACTCTCCCATCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG03942.hp1 others(2): Show HG00741.hp1 HG01433.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0006 a0005c0032 a0001c0004 a0001c0006 a0005c0032	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0005c0032t0001	a0001c0004t0001g0017 a0001c0004t0002g0195 a0001c0006t0001g0135 others(2): Show a0001c0004t0001g0017 a0001c0004t0002g0195 a0001c0006t0001g0135 a0001c0006t0001g0164 a0005c0032t0001g0234	5	254	0.0197	32	c.170 others(51): Show c.1706-2047_1706-2046insATCCCCCCCAGCCTCAGCCTCCCCAC TCTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840299	C C	CTCCAGAC others(25): Show CTCCAGACTCAGCCTCCCCACTCTCCCGTGCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0076 a0001c0017t0076	a0001c0017t0076g0154 a0001c0017t0076g0154	1	254	0.0039	32	c.170 others(51): Show c.1706-1972_1706-1971insACTCAGCCTCCCCACTCTCCCGTGCC TTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840305	C C	CCTCAGCC others(25): Show CCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01952.hp2 NA18966.hp1 others(2): Show HG01517.hp2 HG01952.hp2 NA18966.hp1 NA19002.hp1 NA19084.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0005 a0003c0008t0008 a0003c0008t0001 a0003c0008t0005 a0003c0008t0008	a0003c0008t0001g0010 a0003c0008t0001g0107 a0003c0008t0001g0170 others(2): Show a0003c0008t0001g0010 a0003c0008t0001g0107 a0003c0008t0001g0170 a0003c0008t0005g0249 a0003c0008t0008g0245	5	254	0.0197	32	c.170 others(51): Show c.1706-1945_1706-1914dupCTCCAGACTCAGCCTCCCCACTCTCC CGTGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840331	C C	CTCCAGAC others(25): Show CTCCAGACTCAGCCTCCCCACTCTCCCGTGCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG02055.hp2 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0016t0004g0214 a0001c0016t0004g0215	2	254	0.0079	32	c.170 others(51): Show c.1706-1939_1706-1908dupACTCAGCCTCCCCACTCTCCCGTGCC TTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840358	G G	GTGCCCTC others(25): Show GTGCCCTCCAGACTCAGCCTCCCCACTCTCCCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19011.hp1 NA19010.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0030 a0001c0001t0001 a0001c0002t0030	a0001c0001t0001g0225 a0001c0002t0030g0096 a0001c0001t0001g0225 a0001c0002t0030g0096	2	254	0.0079	32	c.170 others(51): Show c.1706-1914_1706-1913insCTCCAGACTCAGCCTCCCCACTCTCC CATGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845387	A A	AGGCACTA others(25): Show AGGCACTAGTGGTTCTAACCAGTCCAGTTGCCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0069 a0009c0038t0069	a0009c0038t0069g0044 a0009c0038t0069g0044	1	254	0.0039	32	c.180 others(51): Show c.1809+3009_1809+3010insGCACTAGTGGTTCTAACCAGTCCAGT TGCCGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845510	G G	GCTGGCAC others(25): Show GCTGGCACTAGCGGTACTAACCAGTCCAGTTAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0069 a0009c0038t0069	a0009c0038t0069g0044 a0009c0038t0069g0044	1	254	0.0039	32	c.180 others(51): Show c.1809+3132_1809+3133insTGGCACTAGCGGTACTAACCAGTCCA GTTACC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845541	G G	GCCAGCAC others(25): Show GCCAGCACTAGCGGTACTATTCAGTCCAGTTAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01099.hp2 others(8): Show HG00438.hp1 HG00558.hp1 HG01099.hp2 HG02055.hp1 HG02074.hp2 HG02280.hp1 HG02647.hp1 NA18969.hp2 NA18973.hp2 NA19081.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0003c0007	a0001c0001t0019 a0001c0001t0054 a0001c0002t0002 others(4): Show a0001c0001t0019 a0001c0001t0054 a0001c0002t0002 a0001c0002t0007 a0001c0002t0018 a0001c0013t0004 a0003c0007t0011	a0001c0001t0019g0142 a0001c0001t0054g0008 a0001c0002t0002g0021 others(8): Show a0001c0001t0019g0142 a0001c0001t0054g0008 a0001c0002t0002g0021 a0001c0002t0007g0110 a0001c0002t0007g0253 a0001c0002t0018g0005 a0001c0002t0018g0189 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0003c0007t0011g0025	11	254	0.0433	32	c.180 others(51): Show c.1809+3163_1809+3164insCAGCACTAGCGGTACTATTCAGTCCA GTTACC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845764	C C	CAGCACTA others(25): Show CAGCACTAGCGGTACTAACCAATCCAGTTACCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp2 HG02055.hp1 others(6): Show HG00558.hp1 HG01099.hp2 HG02055.hp1 HG02074.hp2 HG02280.hp1 HG02647.hp1 NA18969.hp2 NA18973.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0003c0007	a0001c0001t0054 a0001c0002t0002 a0001c0002t0007 others(3): Show a0001c0001t0054 a0001c0002t0002 a0001c0002t0007 a0001c0002t0018 a0001c0013t0004 a0003c0007t0011	a0001c0001t0054g0008 a0001c0002t0002g0021 a0001c0002t0007g0110 others(6): Show a0001c0001t0054g0008 a0001c0002t0002g0021 a0001c0002t0007g0110 a0001c0002t0007g0253 a0001c0002t0018g0005 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0003c0007t0011g0025	9	254	0.0354	32	c.180 others(51): Show c.1809+3385_1809+3386insAGCACTAGCGGTACTAACCAATCCAG TTACCA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29			chr13	TogoVar
ATP13A4_chr3_193393967_193559895	193541248	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp2 HG02165.hp2 HG00423.hp2 HG02132.hp2 HG02165.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0006 a0003c0005t0001 a0003c0005t0003 a0003c0005t0006	a0003c0005t0001g0290 a0003c0005t0003g0291 a0003c0005t0006g0292 a0003c0005t0001g0290 a0003c0005t0003g0291 a0003c0005t0006g0292	3	302	0.0099	32	c.60+ others(49): Show c.60+13491_60+13492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29			chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	408	0.0025	32	c.-23 others(43): Show c.-2364_-2363insAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0099 a0001c0001t0006g0092 a0001c0001t0006g0099	2	408	0.0049	32	c.-23 others(43): Show c.-2364_-2363insAAAAAAAAAAAAAAAAAAAAAAATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141876041	C C	CAGAGCGT others(25): Show CAGAGCGTCCTGTAGGAACGTCACAGAGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(77): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG01123.hp2 HG01192.hp1 HG01361.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18997.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0157 others(75): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0157 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0326 a0001c0001t0002g0257 a0001c0001t0002g0267 a0001c0001t0002g0307 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0003g0106 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0006g0092 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0007g0308 a0001c0001t0007g0314 a0001c0001t0007g0317 a0001c0001t0012g0277 a0001c0001t0014g0291	80	408	0.1961	32	c.-76 others(41): Show c.-761_-760insAGAGCGTCCTGTAGGAACGTCACAGAGCCCAG	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		601		chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120374466	C C	CAGGATAT others(25): Show CAGGATATACCCTTATATATACCAGGATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	353	0.0028	32	c.563 others(47): Show c.563-882_563-851dupGGATATATAAGGATATACCCTTATATATAC CA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP1B4_chrX_120357089_120388237	120374609	A A	ATAATATT others(25): Show ATAATATTATATTATATATATATAATATTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00735.hp1 others(16): Show HG00099.hp1 HG00423.hp2 HG00735.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02015.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18960.hp1 NA18968.hp1 NA18973.hp1 NA19004.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0009 a0001c0001t0001g0157 a0001c0001t0001g0158 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0161 a0001c0001t0003g0009 a0001c0001t0003g0160 a0001c0001t0004g0012 a0001c0001t0004g0193 a0001c0001t0012g0162 a0001c0001t0016g0163	19	353	0.0538	32	c.563 others(47): Show c.563-761_563-760insATATTATATTATATATATATAATATTATAT TA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2B1_chr12_89583049_89713838	89658598	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	332	0.0030	32	c.-22 others(51): Show c.-221-2523_-221-2492dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89669037	A A	AACACACT others(25): Show AACACACTCAGTATGTACTGCATTTTCTTGTGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0193 a0001c0001t0011g0193	1	332	0.0030	32	c.-22 others(53): Show c.-221-12962_-221-12931dupGCACAAGAAAATGCAGTACATACT GAGTGTGT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0135 a0001c0007t0010g0135	1	332	0.0030	32	c.-22 others(53): Show c.-221-21848_-221-21847insTATATATATATATATATATATATA TATATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B3_chrX_153512642_153587929	153584577	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0020 a0001c0001t0020g0230 a0001c0001t0001g0020 a0001c0001t0020g0230	2	267	0.0075	32	c.42 others(43): Show c.4279_*4280insAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1649		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0017 a0001c0001t0051g0017	1	267	0.0038	32	c.42 others(43): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	267	0.0038	32	c.42 others(43): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18980.hp1 HG02257.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0002t0001 a0001c0001t0053 a0001c0002t0001	a0001c0001t0053g0084 a0001c0002t0001g0155 a0001c0001t0053g0084 a0001c0002t0001g0155	2	267	0.0075	32	c.42 others(43): Show c.4283_*4284insAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02280.hp2 HG02572.hp1 others(8): Show HG02074.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp1 HG03017.hp1 HG03225.hp1 NA18950.hp2 NA19068.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0021t0019	a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0008g0013 others(8): Show a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0008g0013 a0001c0001t0008g0024 a0001c0001t0008g0165 a0001c0001t0011g0038 a0001c0001t0019g0207 a0001c0002t0002g0054 a0001c0002t0006g0010 a0001c0002t0014g0099 a0001c0021t0019g0075	11	267	0.0412	32	c.42 others(43): Show c.4283_*4284insAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02896.hp1 others(5): Show HG02615.hp2 HG02630.hp1 HG02896.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0007 a0001c0001t0001 a0001c0002t0002 a0001c0005t0007	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0002t0002g0043 a0001c0005t0007g0016	8	267	0.0300	32	c.42 others(43): Show c.4283_*4284insAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B4_chr1_203621832_203749081	203624452	A A	AGGAGGGA others(25): Show AGGAGGGAAGGGAAGAGGGAGGGAAGGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	318	0.0031	32	c.-32 others(43): Show c.-3232_-3231insGGAGGGAAGGGAAGAGGGAGGGAAGGGAAGAG	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		2379		chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203744827	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02148.hp2 HG00621.hp1 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0025 a0001c0003t0021 a0001c0003t0025	a0001c0003t0021g0094 a0001c0003t0025g0279 a0001c0003t0021g0094 a0001c0003t0025g0279	2	318	0.0063	32	c.49 others(43): Show c.4973_*4974insACACACACACACACACACACACACACACACAC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		747		chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	432	0.0023	32	c.100 others(51): Show c.100-14749_100-14748insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0117 a0002c0008t0001g0117	1	432	0.0023	32	c.100 others(47): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	32	c.32 others(43): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	222	0.0045	32	c.-51 others(41): Show c.-511_-510insCACACACACACACACACACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707336	A A	ATTTATTA others(25): Show ATTTATTATATATATTATAATATATATTATATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0093 a0001c0005t0001g0093	1	376	0.0027	32	c.243 others(49): Show c.2430-620_2430-619insAATATAATATATATTATAATATATATAA TAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02486.hp1 HG02896.hp2 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0010 a0001c0021 a0001c0010 a0001c0021	a0001c0010t0002 a0001c0021t0001 a0001c0010t0002 a0001c0021t0001	a0001c0010t0002g0197 a0001c0010t0002g0198 a0001c0021t0001g0195 others(1): Show a0001c0010t0002g0197 a0001c0010t0002g0198 a0001c0021t0001g0195 a0001c0021t0001g0196	4	376	0.0106	32	c.157 others(51): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745962	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0198 a0001c0010t0002g0198	1	376	0.0027	32	c.132 others(49): Show c.1321-683_1321-682insATATATATATATATATTTTTTTTTTTTT TTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138774639	T T	TATTACAT others(25): Show TATTACATACATTATATATTATATATTATATAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0268 a0005c0006t0001g0268	1	376	0.0027	32	c.-17 others(49): Show c.-17-3376_-17-3375insGTATATAATATATAATATATAATGTATG TAAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138774639	T T	TATTATAT others(25): Show TATTATATACATTATATATTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0005 a0001c0007 others(20): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0020 a0001c0030 a0002c0002 a0002c0003 a0002c0019 a0003c0004 a0003c0022 a0003c0037 a0004c0011 a0004c0018 a0005c0006 a0006c0009 a0008c0024 a0009c0048 a0010c0032 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0010t0002 a0001c0013t0001 a0001c0014t0001 a0001c0020t0001 a0001c0020t0007 a0001c0030t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0019t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 a0003c0004t0011 a0003c0022t0001 a0003c0022t0003 a0003c0037t0009 a0004c0011t0001 a0004c0018t0001 a0005c0006t0001 a0005c0006t0005 a0006c0009t0001 a0008c0024t0002 a0009c0048t0005 a0010c0032t0001 a0011c0028t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(179): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0357 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0002g0030 a0001c0001t0002g0154 a0001c0001t0002g0187 a0001c0001t0002g0200 a0001c0001t0002g0241 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0003g0102 a0001c0001t0003g0138 a0001c0001t0003g0179 a0001c0001t0003g0327 a0001c0001t0003g0343 a0001c0001t0004g0352 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0007g0375 a0001c0001t0008g0061 a0001c0001t0010g0242 a0001c0001t0012g0370 a0001c0001t0013g0372 a0001c0005t0001g0032 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0232 a0001c0005t0001g0313 a0001c0005t0001g0348 a0001c0005t0003g0274 a0001c0005t0004g0356 a0001c0007t0001g0144 a0001c0007t0001g0153 a0001c0007t0001g0244 a0001c0007t0001g0310 a0001c0007t0001g0318 a0001c0007t0001g0321 a0001c0007t0001g0333 a0001c0007t0002g0137 a0001c0008t0001g0155 a0001c0010t0002g0035 a0001c0010t0002g0362 a0001c0013t0001g0181 a0001c0013t0001g0206 a0001c0014t0001g0267 a0001c0020t0001g0036 a0001c0020t0007g0373 a0001c0030t0001g0204 a0002c0002t0001g0057 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0264 a0002c0002t0001g0291 a0002c0002t0001g0340 a0002c0002t0003g0143 a0002c0002t0003g0239 a0002c0003t0001g0066 a0002c0003t0001g0240 a0002c0003t0001g0287 a0002c0003t0001g0329 a0002c0003t0002g0065 a0002c0019t0001g0236 a0003c0004t0001g0074 a0003c0004t0001g0105 a0003c0004t0001g0135 a0003c0004t0001g0152 a0003c0004t0001g0207 a0003c0004t0001g0212 a0003c0004t0001g0226 a0003c0004t0001g0252 a0003c0004t0001g0298 a0003c0004t0001g0339 a0003c0004t0001g0341 a0003c0004t0002g0354 a0003c0004t0008g0068 a0003c0004t0011g0371 a0003c0022t0001g0289 a0003c0022t0003g0216 a0003c0037t0009g0345 a0004c0011t0001g0266 a0004c0011t0001g0273 a0004c0018t0001g0026 a0005c0006t0001g0015 a0005c0006t0001g0031 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0269 a0005c0006t0001g0301 a0005c0006t0001g0302 a0005c0006t0001g0303 a0005c0006t0001g0332 a0005c0006t0005g0069 a0006c0009t0001g0202 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0224 a0008c0024t0002g0324 a0008c0024t0002g0325 a0009c0048t0005g0347 a0010c0032t0001g0039 a0011c0028t0001g0059	182	376	0.4840	32	c.-17 others(49): Show c.-17-3407_-17-3376dupGTATATAATATATAATATATAATGTATA TAAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03017.hp2 HG04204.hp2 others(1): Show HG02015.hp1 HG03017.hp2 HG04204.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0193	4	360	0.0111	32	c.302 others(51): Show c.302+12383_302+12384insATATATATATATATATATATATATAT ATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86149632	A A	AGAAGAAT others(25): Show AGAAGAATGAAAAAGAAAAAAAAAAAAAAGAAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	360	0.0028	32	c.640 others(47): Show c.640-480_640-479insGAAGAATGAAAAAGAAAAAAAAAAAAAAGA AT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7			chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42464127	C C	CTTTTATA others(25): Show CTTTTATACATTATTAATAATGTATTTTTTACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02723.hp1 HG01255.hp2 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0026 a0001c0002t0004 a0001c0002t0026	a0001c0002t0004g0033 a0001c0002t0026g0012 a0001c0002t0004g0033 a0001c0002t0026g0012	2	310	0.0065	32	c.261 others(49): Show c.2619+531_2619+562dupTGTAAAAAATACATTATTAATAATGTAT AAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	27/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACACA others(25): Show CACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	310	0.0032	32	c.50- others(47): Show c.50-8674_50-8673insATATATATATATATATATATATATGTGTGT GT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25435941	G G	GTGTGTGA others(25): Show GTGTGTGAGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp2 HG02257.hp2 others(3): Show HG01175.hp2 HG01261.hp2 HG02257.hp2 HG02559.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0019	a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 others(3): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0005t0023 a0001c0006t0006 a0001c0019t0007	a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 others(3): Show a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 a0001c0005t0023g0002 a0001c0006t0006g0098 a0001c0019t0007g0029	6	122	0.0492	32	c.77- others(49): Show c.77-33030_77-33029insAGTGTGTGTATGTGTGTGTGTGTGTATG TGTG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(25): Show CCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp2 HG00741.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0026 a0001c0001t0011 a0001c0001t0026	a0001c0001t0011g0061 a0001c0001t0026g0090 a0001c0001t0011g0061 a0001c0001t0026g0090	2	122	0.0164	32	c.77- others(47): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCTCTCTCTCTCTCTC TC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(25): Show CCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02559.hp1 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0020 a0001c0006t0006 a0001c0006t0020	a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0006g0098 a0001c0006t0020g0085	2	122	0.0164	32	c.77- others(47): Show c.77-3226_77-3225insCCTCTCTCTCTCTCTCTCTCTCTCTCTTTC TC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0066 a0001c0003t0010 a0001c0001t0066 a0001c0003t0010	a0001c0001t0066g0092 a0001c0003t0010g0026 a0001c0001t0066g0092 a0001c0003t0010g0026	2	122	0.0164	32	c.318 others(53): Show c.3183+30096_3183+30097insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0152 a0001c0001t0010g0164 a0001c0001t0010g0152 a0001c0001t0010g0164	2	314	0.0064	32	c.353 others(49): Show c.3532-171_3532-170insTACACACACACACACACACACACACACA CACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57649190	A A	ATATCTAT others(25): Show ATATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp2 HG01255.hp2 others(1): Show HG00597.hp2 HG01123.hp2 HG01255.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0023	a0001c0001t0005g0132 a0001c0001t0008g0101 a0001c0001t0013g0231 others(1): Show a0001c0001t0005g0132 a0001c0001t0008g0101 a0001c0001t0013g0231 a0001c0001t0023g0167	4	314	0.0127	32	c.353 others(49): Show c.3532-479_3532-478insGATAGATAGATAGATAGATAGATAGATA GATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672980	C C	CATATAAA others(25): Show CATATAAATATATGTATATATATAAATATACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01258.hp1 HG01993.hp1 HG01243.hp2 HG01258.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0110	3	314	0.0096	32	c.182 others(51): Show c.1820-1401_1820-1400insATGTATATTTATATATATACATATAT TTATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18970.hp1 NA19074.hp2 HG01074.hp2 NA18970.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0073 a0001c0001t0003g0194 a0001c0001t0009g0215 a0001c0001t0001g0073 a0001c0001t0003g0194 a0001c0001t0009g0215	3	314	0.0096	32	c.163 others(51): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)