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 (≤).

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⚠️ 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
ATP6V0A1_chr17_42453878_42527579	42503773	GGTCATCC others(17): Show GGTCATCCTTCTGGAACTAGTCTAA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	320	0.0031	-24	c.200 others(43): Show c.2004+2494_2004+2517delGTCATCCTTCTGGAACTAGTCTAA	ATP6V0A1	ENSG00000033627.18	transcript	ENST00000343619.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP6V0A4_chr7_138701294_138803196	138774306	CCGTGGCT others(17): Show CCGTGGCTCACGCCGGTAATTCCAG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp2 HG03130.hp1 NA18906.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0042 a0002c0002 a0009c0042	a0002c0002t0001 a0009c0042t0001 a0002c0002t0001 a0009c0042t0001	a0002c0002t0001g0108 a0009c0042t0001g0111 a0002c0002t0001g0108 a0009c0042t0001g0111	2	376	0.0053	-24	c.-17 others(41): Show c.-17-3066_-17-3043delCTGGAATTACCGGCGTGAGCCACG	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784229	TATATACG others(17): Show TATATACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	376	0.0027	-24	c.-18 others(41): Show c.-18+1905_-18+1928delGTATATATATATATATACGTATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	GAGATATA others(17): Show GAGATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0128 a0001c0007t0001g0128	1	440	0.0023	-24	c.174 others(41): Show c.174+1988_174+2011delGATATATATATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10750885	CAGTGCTT others(17): Show CAGTGCTTGGCGCATAGTAGTTGTT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0021 a0006c0014t0021	a0006c0014t0021g0179 a0006c0014t0021g0179	1	354	0.0028	-24	c.198 others(41): Show c.198-3062_198-3039delCGCATAGTAGTTGTTAGTGCTTGG	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10750920	GCATAGTA others(17): Show GCATAGTAGTTGTTAGTGCTTGGTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0075 a0001c0001t0013g0075	1	354	0.0028	-24	c.198 others(41): Show c.198-3037_198-3014delACATAGTAGTTGTTAGTGCTTGGT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17620517	CTTTGGGG others(17): Show CTTTGGGGCCATACTCTTCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	370	0.0027	-24	c.34- others(38): Show c.34-1015_34-992delAGAGTGGAAGAGTATGGCCCCAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	1/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	370	0.0027	-24	c.-30 others(35): Show c.-3051_-3028delTATATATATATATATACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2914		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631696	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03492.hp2 HG01074.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	2	370	0.0054	-24	c.-30 others(35): Show c.-3085_-3062delAAAAAAAAAAAAAATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2948		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631698	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0046 a0001c0002t0006g0046	1	370	0.0027	-24	c.-30 others(35): Show c.-3087_-3064delAAAAAAAAAAAAAAAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2950		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01981.hp2 others(8): Show HG00280.hp2 HG01074.hp1 HG01981.hp2 HG02602.hp2 HG02647.hp2 HG02818.hp2 HG03704.hp2 HG04204.hp1 HG04204.hp2 NA18975.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0231 a0001c0001t0002g0034 a0001c0001t0002g0190 others(7): Show a0001c0001t0001g0231 a0001c0001t0002g0034 a0001c0001t0002g0190 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0008t0002g0292	11	410	0.0268	-24	c.-10 others(43): Show c.-101-5970_-101-5947delCACACACACACACACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546452	ATATATAT others(17): Show ATATATATATATATATATATATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01168.hp2 others(10): Show HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01361.hp1 HG02257.hp1 HG02723.hp1 HG02896.hp1 HG03017.hp1 NA18943.hp1 NA18978.hp1 NA18998.hp2 NA19005.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0150 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0150 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0176 a0001c0001t0005g0095 a0001c0001t0005g0126 a0001c0001t0005g0132 a0001c0001t0005g0163 a0001c0001t0006g0086	13	410	0.0317	-24	c.-46 others(35): Show c.-4633_-4610delCACATATATATATATATATATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3876		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546509	TATGTATA others(17): Show TATGTATATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 NA18522.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0182 a0001c0001t0003g0165 a0001c0001t0003g0182	2	410	0.0049	-24	c.-46 others(35): Show c.-4690_-4667delGTATATATATATATGTATATACAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3933		chr2	TogoVar
ATP6V1F_chr7_128857856_128870847	128869748	TGCTGAGG others(17): Show TGCTGAGGGGCGCCGGCCACGCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	-24	c.41 others(35): Show c.4171_*4194delGCTGAGGGGCGCCGGCCACGCGGC	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		3902		chr7	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01192.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG01192.hp1 HG02135.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0001g0273 a0001c0001t0002g0260 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0273 a0001c0001t0002g0260 a0001c0001t0003g0003 a0001c0001t0003g0004	5	286	0.0175	-24	c.127 others(41): Show c.1277+846_1277+869delATATATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77948080	TATTTATT others(17): Show TATTTATTTATTTATTTATTTATTC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19001.hp2 NA19074.hp2 NA18965.hp1 NA19001.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0228 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0005g0228 a0001c0001t0011g0225 a0001c0001t0011g0226	3	233	0.0129	-24	c.-21 others(43): Show c.-21-23537_-21-23514delTATTTATTTATTTATTTATTCATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8A2_chr13_25366974_26030851	25465663	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0081	1	122	0.0082	-24	c.77- others(39): Show c.77-3261_77-3238delTTTCTTTCTTTCTTTCTTTCTTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0013 a0001c0002t0023g0013	1	122	0.0082	-24	c.275 others(43): Show c.2754+1506_2754+1529delATATATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57672886	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18939.hp1 NA18939.hp2 others(7): Show HG02080.hp1 NA18939.hp1 NA18939.hp2 NA18974.hp2 NA18980.hp1 NA18991.hp2 NA19012.hp1 NA19054.hp1 NA19062.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037	a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0237 others(7): Show a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0237 a0002c0002t0014g0266 a0002c0002t0014g0274 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0019g0048 a0002c0002t0019g0137 a0002c0002t0037g0175	10	314	0.0319	-24	c.182 others(43): Show c.1820-1330_1820-1307delTATATATATATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57771412	CCTTACTT others(17): Show CCTTACTTCCTGATCCTTCAATTCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0005 a0001c0001t0032g0005	1	314	0.0032	-24	c.-26 others(43): Show c.-26+31562_-26+31585delTGAATTGAAGGATCAGGAAGTAAG	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1795784	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG04199.hp1 HG02723.hp2 HG04199.hp1	a0000 a0001 a0000 a0001	a0000c0040 a0001c0006 a0000c0040 a0001c0006	a0000c0040t0008 a0001c0006t0002 a0000c0040t0008 a0001c0006t0002	a0000c0040t0008g0265 a0001c0006t0002g0046 a0000c0040t0008g0265 a0001c0006t0002g0046	2	390	0.0051	-24	c.205 others(39): Show c.2055+67_2055+90delGTGTGTGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1797468	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0009 a0001c0037t0009	a0001c0037t0009g0180 a0001c0037t0009g0180	1	390	0.0026	-24	c.155 others(41): Show c.1553-487_1553-464delTAAATAAATAAATAAATAAATAAA	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	14/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50054786	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG02572.hp1 others(2): Show HG01109.hp1 HG02258.hp2 HG02572.hp1 HG02809.hp1 HG02976.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0031 a0002c0002t0001 a0007c0007t0001 a0001c0001t0031 a0002c0002t0001 a0007c0007t0001	a0001c0001t0031g0241 a0002c0002t0001g0101 a0007c0007t0001g0240 others(2): Show a0001c0001t0031g0241 a0002c0002t0001g0101 a0007c0007t0001g0240 a0007c0007t0001g0242 a0007c0007t0001g0243	5	254	0.0197	-24	c.88- others(39): Show c.88-7346_88-7323delGTTTTTTTTTTTTTTTTTTTTTTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072921	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01167.hp2 HG01243.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0084 a0003c0003t0002g0004 a0002c0002t0002g0084 a0003c0003t0002g0004	2	254	0.0079	-24	c.87+ others(39): Show c.87+1182_87+1205delAGAGAGAGAGAGAGAGAGAGAGAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	254	0.0039	-24	c.87+ others(39): Show c.87+1141_87+1164delTATATAGAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072964	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18906.hp1 HG02615.hp2 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0015 a0008c0008t0005 a0001c0001t0015 a0008c0008t0005	a0001c0001t0015g0012 a0008c0008t0005g0100 a0001c0001t0015g0012 a0008c0008t0005g0100	2	254	0.0079	-24	c.87+ others(39): Show c.87+1139_87+1162delTATATATAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072966	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0048 a0006c0006t0004g0048	1	254	0.0039	-24	c.87+ others(39): Show c.87+1137_87+1160delTATATATATAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072972	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	254	0.0039	-24	c.87+ others(39): Show c.87+1131_87+1154delTATATATATATATATAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073011	TATATATA others(17): Show TATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03654.hp1 HG01167.hp1 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0002 a0001c0001t0013 a0002c0002t0002	a0001c0001t0013g0102 a0002c0002t0002g0066 a0001c0001t0013g0102 a0002c0002t0002g0066	2	254	0.0079	-24	c.87+ others(39): Show c.87+1092_87+1115delGTGTGTGTGTGTGTGTATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085956	TATATATT others(17): Show TATATATTTATATATGATATATCAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0233 a0001c0001t0026g0233	1	254	0.0039	-24	c.29- others(41): Show c.29-11795_29-11772delTTGATATATCATATATAAATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50098266	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02615.hp1 others(5): Show HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02896.hp1 HG02970.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0007c0007	a0001c0001t0001 a0001c0001t0029 a0001c0001t0031 others(4): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0031 a0002c0002t0001 a0004c0004t0005 a0005c0005t0001 a0007c0007t0001	a0001c0001t0001g0253 a0001c0001t0029g0250 a0001c0001t0031g0241 others(5): Show a0001c0001t0001g0253 a0001c0001t0029g0250 a0001c0001t0031g0241 a0002c0002t0001g0188 a0002c0002t0001g0252 a0004c0004t0005g0249 a0005c0005t0001g0251 a0007c0007t0001g0243	8	254	0.0315	-24	c.28+ others(39): Show c.28+8649_28+8672delAAAAAAAAAAAAAAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00673.hp2 others(13): Show HG00099.hp1 HG00558.hp1 HG00673.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02965.hp1 HG03831.hp1 HG03834.hp1 NA18951.hp1 NA19010.hp1 NA19060.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0040 a0001c0001t0062 a0001c0001t0065 a0001c0001t0075 a0001c0007t0001	a0001c0001t0001g0077 a0001c0001t0001g0237 a0001c0001t0001g0244 others(13): Show a0001c0001t0001g0077 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0298 a0001c0001t0002g0093 a0001c0001t0002g0199 a0001c0001t0004g0063 a0001c0001t0011g0245 a0001c0001t0040g0024 a0001c0001t0062g0292 a0001c0001t0065g0123 a0001c0001t0075g0074 a0001c0007t0001g0295	16	312	0.0513	-24	c.166 others(43): Show c.1668+1250_1668+1273delTATATATATATATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0126 a0001c0003t0014g0126	1	312	0.0032	-24	c.166 others(43): Show c.1668+1248_1668+1271delTATATATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79245602	CGGAGGGT others(17): Show CGGAGGGTACCACCCTACTGACTGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp2 HG03209.hp2 others(4): Show HG02717.hp1 HG02886.hp2 HG03209.hp2 NA18522.hp2 NA18612.hp2 NA18945.hp2 NA19043.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0005 a0005c0016 a0001c0001 a0002c0005 a0005c0016	a0001c0001t0001 a0002c0005t0001 a0005c0016t0001 a0001c0001t0001 a0002c0005t0001 a0005c0016t0001	a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0001g0091 a0002c0005t0001g0242 a0005c0016t0001g0171	7	298	0.0235	-24	c.110 others(43): Show c.1108-7768_1108-7745delACCCTACTGACTGGGGAGGGTACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79245824	AGGAGGGC others(17): Show AGGAGGGCACCACCCTACTGACTGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0056 a0001c0004t0003g0056	1	298	0.0034	-24	c.110 others(43): Show c.1108-7546_1108-7523delACCCTACTGACTGCGGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79245948	CGCGGAGG others(17): Show CGCGGAGGGCACCACCCTACTGACT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0058 a0001c0024t0004g0058	1	298	0.0034	-24	c.110 others(43): Show c.1108-7420_1108-7397delACCCTACTGACTGCGGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79245961	ACCCTACT others(17): Show ACCCTACTGACTGCGGAGGGCACCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(95): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0037 a0002c0002 a0003c0007 a0003c0020 a0003c0021 a0004c0008 a0004c0036 a0006c0012 a0010c0029 a0012c0018 a0015c0027 a0016c0028	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(26): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0004 a0001c0013t0004 a0001c0037t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0004c0008t0001 a0004c0036t0001 a0006c0012t0003 a0010c0029t0004 a0012c0018t0002 a0015c0027t0003 a0016c0028t0012	a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0003t0001g0136 others(94): Show a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0037t0003g0104 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0003g0198 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0010c0029t0004g0220 a0012c0018t0002g0114 a0015c0027t0003g0139 a0016c0028t0012g0144	98	298	0.3289	-24	c.110 others(43): Show c.1108-7411_1108-7388delACTGCGGAGGGCACCGCCCTACTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79246000	CGGAGGGC others(17): Show CGGAGGGCACCGCCCTACTGACTGA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	298	0.0034	-24	c.110 others(43): Show c.1108-7357_1108-7334delAGGAGGGCACCGCCCTACTGACTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79246121	CGGAGGGC others(17): Show CGGAGGGCACCGCCCTACTGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01106.hp2 others(22): Show HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02818.hp2 HG02897.hp1 HG02965.hp2 HG03471.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0037	a0001c0001t0001 a0001c0004t0003 a0001c0004t0004 others(4): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0010t0004 a0001c0037t0003	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0059 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0037t0003g0104	25	298	0.0839	-24	c.110 others(43): Show c.1108-7258_1108-7235delGAGGGCACCGCCCTACTGTCTGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79296967	GAGACAGA others(17): Show GAGACAGAGAGATGACCCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18952.hp1 NA19007.hp1 HG02015.hp2 NA18952.hp1 NA19007.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0015c0027 a0001c0003 a0015c0027	a0001c0003t0003 a0015c0027t0003 a0001c0003t0003 a0015c0027t0003	a0001c0003t0003g0115 a0001c0003t0003g0138 a0015c0027t0003g0139 a0001c0003t0003g0115 a0001c0003t0003g0138 a0015c0027t0003g0139	3	298	0.0101	-24	c.141 others(43): Show c.1412-6631_1412-6608delGAGAGATGACCCAGAGAGAAGACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115223859	TTATATAT others(17): Show TTATATATAACATATGTGTATTTAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0115 a0001c0001t0020g0115	1	128	0.0078	-24	c.153 others(43): Show c.1532+7985_1532+8008delATAACATATGTGTATTTAATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	TTGTGTGT others(17): Show TTGTGTGTGTGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02258.hp1 others(16): Show HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0036 a0001c0001t0048 a0001c0002t0001 a0001c0003t0037 a0001c0003t0045 a0001c0003t0047 a0001c0005t0021 a0001c0006t0013 a0001c0007t0030 a0001c0015t0034 a0002c0004t0007 a0002c0004t0012	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0111 others(16): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0111 a0001c0001t0007g0027 a0001c0001t0008g0014 a0001c0001t0016g0031 a0001c0001t0036g0117 a0001c0001t0048g0107 a0001c0002t0001g0103 a0001c0003t0037g0121 a0001c0003t0045g0090 a0001c0003t0047g0128 a0001c0005t0021g0007 a0001c0006t0013g0029 a0001c0007t0030g0008 a0001c0015t0034g0110 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026	19	128	0.1484	-24	c.401 others(45): Show c.4018+23480_4018+23503delGTGTGTGTGTATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(17): Show GATAATAATAATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02451.hp2 others(11): Show HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03942.hp2 HG04199.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0004 a0002c0012 a0005c0009 others(1): Show a0002c0004 a0002c0012 a0005c0009 a0011c0022	a0002c0004t0004 a0002c0004t0016 a0002c0012t0012 others(4): Show a0002c0004t0004 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0005c0009t0004 a0011c0022t0004	a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 others(11): Show a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009	14	220	0.0636	-24	c.411 others(43): Show c.411-30537_411-30514delATAATAATAATAATAATAATAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02145.hp1 HG02559.hp1 others(4): Show HG01952.hp2 HG02145.hp1 HG02559.hp1 HG02602.hp2 HG03041.hp1 HG03516.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0002 a0001c0001t0012 a0001c0001t0027 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0027 a0002c0012t0012	a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0012g0115 others(4): Show a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0012g0208 a0001c0001t0027g0095 a0002c0012t0012g0158	7	220	0.0318	-24	c.386 others(43): Show c.3864-3370_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01516.hp1 others(5): Show HG01069.hp1 HG01070.hp1 HG01516.hp1 HG02698.hp1 HG02723.hp2 HG03654.hp1 HG03831.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0139 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0139 a0001c0001t0002g0072 a0001c0001t0002g0091 a0001c0001t0002g0174 a0001c0001t0002g0216 a0001c0001t0003g0112	8	218	0.0367	-24	c.513 others(43): Show c.5135-5520_5135-5497delATATATATATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77629956	TCGCGTGC others(17): Show TCGCGTGCGTGCGCGCGCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0077 a0001c0001t0008g0077	1	218	0.0046	-24	c.513 others(43): Show c.5134+3227_5134+3250delTGTGTGTGCGCGCGCACGCACGCG	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	322	0.0031	-24	c.589 others(39): Show c.5898+59_5898+82delTATATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142571465	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02165.hp2 NA18951.hp1 others(8): Show HG02148.hp2 HG02165.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA19010.hp2 NA19068.hp2 NA19087.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0214 a0002c0005t0001g0280 a0002c0005t0001g0281 others(8): Show a0002c0005t0001g0214 a0002c0005t0001g0280 a0002c0005t0001g0281 a0002c0005t0001g0282 a0002c0005t0001g0283 a0002c0005t0001g0284 a0002c0005t0001g0285 a0002c0005t0001g0286 a0002c0005t0001g0287 a0002c0005t0001g0288 a0002c0005t0001g0309	11	322	0.0342	-24	c.60- others(39): Show c.60-3335_60-3312delTATTTATTTATTTATTTATTTATT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	1/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45752536	AGGGGTTG others(17): Show AGGGGTTGGGGTTGGGGTTGGGGTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02615.hp2 others(2): Show HG01884.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0001 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0068 a0001c0001t0006g0086 a0001c0001t0006g0117 others(2): Show a0001c0001t0001g0068 a0001c0001t0006g0086 a0001c0001t0006g0117 a0001c0001t0006g0119 a0001c0001t0018g0118	5	316	0.0158	-24	c.117 others(45): Show c.1173+12009_1173+12032delTTGGGGTTGGGGTTGGGGTTGGGG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02280.hp1 others(10): Show HG01243.hp1 HG02055.hp2 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 others(10): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0316	13	316	0.0411	-24	c.117 others(45): Show c.1173+12864_1173+12887delTTTTTTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar

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