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
ATP8B1_chr18_57641426_57808315	57712048	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	314	0.0032	32	c.182 others(49): Show c.182-5462_182-5461insATATATATATATATATATATATATATAT ATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG01261.hp1 others(2): Show HG00558.hp2 HG01074.hp2 HG01261.hp1 HG02293.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0001 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0073 a0001c0001t0007g0210 a0001c0001t0007g0219 others(2): Show a0001c0001t0001g0073 a0001c0001t0007g0210 a0001c0001t0007g0219 a0001c0001t0007g0226 a0001c0001t0016g0021	5	314	0.0159	32	c.182 others(49): Show c.182-6654_182-6653insAGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0190 a0001c0001t0038g0190	1	314	0.0032	32	c.182 others(49): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAGGAAGGAAGGAA GGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	314	0.0032	32	c.182 others(49): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0169	1	314	0.0032	32	c.-25 others(51): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT ATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50086396	T T	TTTATTAT others(25): Show TTTATTATATATAATTAAATATAGAGATCTATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp1 HG02683.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0238 a0002c0002t0001g0153 a0001c0001t0001g0238 a0002c0002t0001g0153	2	254	0.0079	32	c.29- others(49): Show c.29-12212_29-12211insTATAGATCTCTATATTTAATTATATATA ATAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp2 others(5): Show HG00099.hp2 HG01069.hp1 HG01071.hp2 HG01496.hp1 HG02148.hp1 HG02257.hp1 HG02723.hp2 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0002t0027 a0001c0002t0068	a0001c0002t0002g0005 a0001c0002t0005g0145 a0001c0002t0005g0196 others(5): Show a0001c0002t0002g0005 a0001c0002t0005g0145 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0286 a0001c0002t0016g0049 a0001c0002t0027g0197 a0001c0002t0068g0293	8	312	0.0256	32	c.166 others(51): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(25): Show GAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01257.hp2 others(3): Show HG01167.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0008 a0001c0001t0080 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0080 a0001c0004t0029 a0001c0006t0003	a0001c0001t0002g0223 a0001c0001t0008g0082 a0001c0001t0080g0010 others(3): Show a0001c0001t0002g0223 a0001c0001t0008g0082 a0001c0001t0080g0010 a0001c0004t0029g0164 a0001c0006t0003g0231 a0001c0006t0003g0232	6	312	0.0192	32	c.166 others(51): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(25): Show GAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp2 HG01071.hp1 others(1): Show HG00423.hp1 HG01070.hp2 HG01071.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0234 others(1): Show a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0234 a0001c0001t0006g0098	4	312	0.0128	32	c.166 others(51): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTCCCTTC CTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0136 a0001c0001t0013g0136	1	312	0.0032	32	c.328 others(49): Show c.328-5741_328-5740insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	298	0.0034	32	c.119 others(49): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03834.hp1 HG01952.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0060 a0001c0004t0003g0073 a0001c0004t0003g0060 a0001c0004t0003g0073	2	298	0.0067	32	c.126 others(51): Show c.1268+2716_1268+2717insCATATATATATATATATATATATATA TATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0001 a0004c0036t0001	a0004c0036t0001g0271 a0004c0036t0001g0271	1	298	0.0034	32	c.126 others(51): Show c.1268+2746_1268+2747insTATATATATATATATATATATACACA CACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79347968	A A	AGGAAGGG others(25): Show AGGAAGGGCAGGGTCCGGGAAGGGCAGGGTCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	32	c.283 others(47): Show c.2838+47_2838+78dupAGGGCAGGGTCCGGGAAGGGCAGGGTCCGG GA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357102	C C	CCTGTGTG others(25): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18971.hp2 NA18977.hp1 NA18984.hp1 NA18990.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0009 a0011 a0012 a0017	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0033 a0007c0031 a0009c0034 a0011c0035 a0012c0018 a0017c0019	a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 others(8): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 a0002c0005t0002 a0002c0033t0002 a0007c0031t0002 a0009c0034t0002 a0011c0035t0002 a0012c0018t0002 a0017c0019t0002	a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 others(70): Show a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0002g0109 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0033t0002g0214 a0007c0031t0002g0251 a0009c0034t0002g0186 a0011c0035t0002g0201 a0012c0018t0002g0114 a0017c0019t0002g0076	73	298	0.2450	32	c.290 others(51): Show c.2904-2241_2904-2240insGTGCCCTGGGTCTGGAGGTGTCTGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357118	T T	TCTGGGTC others(25): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	32	c.290 others(51): Show c.2904-2209_2904-2208insGTGCCCTGGGTCTGGAGGTGTCTGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357118	T T	TCTGGGTC others(25): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	298	0.0034	32	c.290 others(51): Show c.2904-2209_2904-2208insGTGTCCTGGGTCTGGAGGTGTCTGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357136	T T	TGTGTGAG others(25): Show TGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0008 a0013 a0008 a0013	a0008c0030 a0013c0023 a0008c0030 a0013c0023	a0008c0030t0001 a0013c0023t0001 a0008c0030t0001 a0013c0023t0001	a0008c0030t0001g0254 a0013c0023t0001g0042 a0008c0030t0001g0254 a0013c0023t0001g0042	2	298	0.0067	32	c.290 others(51): Show c.2904-2209_2904-2208insGTGCCCTGGGTCTGGAGGTGTCCGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357136	T T	TGTGTGAG others(25): Show TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18960.hp2 NA18980.hp1 HG02155.hp2 NA18960.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014	3	298	0.0101	32	c.290 others(51): Show c.2904-2209_2904-2208insGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357375	G G	GAGGGGTG others(25): Show GAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	32	c.290 others(51): Show c.2904-1975_2904-1974insGTGCCCTGGGTCTGGAGGTGTCTGTG TAAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357382	C C	CCTGTGTG others(25): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0008 a0013 a0008 a0013	a0008c0030 a0013c0023 a0008c0030 a0013c0023	a0008c0030t0001 a0013c0023t0001 a0008c0030t0001 a0013c0023t0001	a0008c0030t0001g0254 a0013c0023t0001g0042 a0008c0030t0001g0254 a0013c0023t0001g0042	2	298	0.0067	32	c.290 others(51): Show c.2904-1958_2904-1957insCCCTGGGTCTGGAGGTGTCTGTGTGA GGGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357382	C C	CCTGTGTG others(25): Show CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0194 a0002c0005t0001g0194	1	298	0.0034	32	c.290 others(51): Show c.2904-1958_2904-1957insCTCTGGGTCTGGAGGTGTCTGTGTGA GGGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357774	T T	TGTGTGAG others(25): Show TGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02155.hp2 HG02630.hp1 others(4): Show HG02145.hp2 HG02155.hp2 HG02630.hp1 HG02886.hp1 HG03209.hp2 NA18960.hp2 NA18980.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0005 a0005c0016 a0001c0001 a0002c0005 a0005c0016	a0001c0001t0001 a0002c0005t0001 a0005c0016t0001 a0001c0001t0001 a0002c0005t0001 a0005c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0090 a0002c0005t0001g0193 a0002c0005t0001g0194 a0005c0016t0001g0171	7	298	0.0235	32	c.290 others(51): Show c.2904-1571_2904-1570insGTGCCCTGGGTCTGGAGGTGTCCGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357958	T T	TCTGGGTC others(25): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	298	0.0034	32	c.290 others(51): Show c.2904-1379_2904-1378insTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357958	T T	TCTGGGTC others(25): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02155.hp2 others(7): Show HG02055.hp1 HG02145.hp2 HG02155.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG03486.hp2 HG03579.hp2 NA18960.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0002c0005t0004 a0001c0001t0001 a0002c0005t0001 a0002c0005t0004	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0090 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0243 a0002c0005t0004g0184	10	298	0.0336	32	c.290 others(51): Show c.2904-1379_2904-1378insTGTGTGAGGGGTGTCCTGGGTCTGGA GGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358160	T T	TCTGGGTC others(25): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	298	0.0034	32	c.290 others(51): Show c.2904-1176_2904-1145dupTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358378	C C	CCTGTGTG others(25): Show CCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	32	c.290 others(49): Show c.2904-965_2904-964insATGCTCTGGGTCTGGAGGTGTCTGTGTG AGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358568	T T	TGTGTGAG others(25): Show TGTGTGAGGGGTGTCCTGGGTCTGGATGTGTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	32	c.290 others(49): Show c.2904-777_2904-776insGTGTCCTGGGTCTGGATGTGTCCGTGTG AGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115170557	G G	GCAGTACA others(25): Show GCAGTACAAATAGATGGTAAAATTCAAATGTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show HG00639.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 others(3): Show a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0007t0027 a0001c0007t0030	a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(5): Show a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0007t0027g0006 a0001c0007t0030g0008	8	128	0.0625	32	c.109 others(49): Show c.1093-479_1093-478insAGTACAAATAGATGGTAAAATTCAAATG TAAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115270253	T T	TATTTGTT others(25): Show TATTTGTTTATATATTATATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	128	0.0078	32	c.210 others(51): Show c.2100+1832_2100+1833insTATATAAACATTTGTTTATATATTAT ATATAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115374453	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	128	0.0078	32	c.317 others(53): Show c.3176-20202_3176-20171dupCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	128	0.0078	32	c.379 others(53): Show c.3795+71741_3795+71742insTATATATATATATATATAGAGAGA GAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871467	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	128	0.0078	32	c.401 others(53): Show c.4018+23477_4018+23478insATATATATATATATATATATATAT ATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	128	0.0078	32	c.401 others(53): Show c.4018+23479_4018+23480insATATATATATATATATATATATAT ATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0019 a0002c0012t0019	a0002c0012t0019g0157 a0002c0012t0019g0157	1	220	0.0046	32	c.411 others(51): Show c.411-23145_411-23144insATATATATATATATATATATATATAT ATTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0026 a0001c0013t0026	a0001c0013t0026g0169 a0001c0013t0026g0169	1	220	0.0046	32	c.346 others(49): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA AATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77556211	A A	AAGGGAGA others(25): Show AAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA21309.hp1 NA21309.hp2 HG02965.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0182 a0001c0001t0003g0085 a0001c0001t0003g0162 a0001c0001t0002g0182 a0001c0001t0003g0085 a0001c0001t0003g0162	3	218	0.0138	32	c.669 others(51): Show c.6699+1208_6699+1239dupCTCTCCCTCTCTCCCTCTCTCCCTCT CTCCCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19080.hp2 NA19005.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0173 a0001c0001t0004g0122 a0001c0001t0002g0173 a0001c0001t0004g0122	2	218	0.0092	32	c.455 others(49): Show c.4557+896_4557+897insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(25): Show CTATAAATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01975.hp2 HG02015.hp1 others(5): Show HG00323.hp1 HG01975.hp2 HG02015.hp1 HG02451.hp1 HG02559.hp2 HG02809.hp2 NA18962.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0005t0005 a0002c0002t0003	a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0190 others(5): Show a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0005g0069 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0005t0005g0082 a0002c0002t0003g0027	8	218	0.0367	32	c.-49 others(43): Show c.-4990_-4989insTATATATATATATATATATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02004.hp2 HG02135.hp1 others(12): Show HG00423.hp1 HG02004.hp2 HG02135.hp1 HG02257.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03041.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18951.hp2 NA18993.hp2 NA19009.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0009 a0012 a0013 a0014	a0001c0001 a0001c0052 a0002c0002 others(9): Show a0001c0001 a0001c0052 a0002c0002 a0003c0003 a0003c0050 a0004c0005 a0004c0015 a0008c0024 a0009c0016 a0012c0011 a0013c0013 a0014c0017	a0001c0001t0001 a0001c0052t0047 a0002c0002t0008 others(10): Show a0001c0001t0001 a0001c0052t0047 a0002c0002t0008 a0003c0003t0001 a0003c0003t0021 a0003c0050t0045 a0004c0005t0002 a0004c0015t0001 a0008c0024t0001 a0009c0016t0007 a0012c0011t0004 a0013c0013t0016 a0014c0017t0004	a0001c0001t0001g0037 a0001c0052t0047g0060 a0002c0002t0008g0140 others(12): Show a0001c0001t0001g0037 a0001c0052t0047g0060 a0002c0002t0008g0140 a0003c0003t0001g0039 a0003c0003t0021g0003 a0003c0050t0045g0147 a0004c0005t0002g0075 a0004c0005t0002g0160 a0004c0015t0001g0152 a0008c0024t0001g0074 a0009c0016t0007g0151 a0012c0011t0004g0161 a0013c0013t0016g0153 a0014c0017t0004g0044 a0014c0017t0004g0171	15	182	0.0824	32	c.-48 others(53): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN7L1_chr7_105599772_105881599	105692411	T T	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	252	0.0040	32	c.356 others(51): Show c.356-27124_356-27123insGGGAGGGAGGGAAGGAAGGAAGGAAG GAAGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(25): Show TCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0252 a0001c0001t0055g0252	1	252	0.0040	32	c.356 others(51): Show c.356-27137_356-27136insGAGGAAGGAGGGAGGGAGGGAGGGAG GGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(25): Show TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02055.hp1 others(3): Show HG01257.hp2 HG01258.hp1 HG02055.hp1 HG02572.hp2 HG02735.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0031	a0001c0001t0001g0003 a0001c0001t0004g0211 a0001c0001t0018g0058 others(3): Show a0001c0001t0001g0003 a0001c0001t0004g0211 a0001c0001t0018g0058 a0001c0001t0020g0169 a0001c0001t0022g0224 a0001c0001t0031g0172	6	252	0.0238	32	c.356 others(51): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG GGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(25): Show TCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp2 HG02165.hp2 others(11): Show HG01934.hp1 HG02083.hp2 HG02165.hp2 HG02602.hp1 HG03239.hp1 HG03491.hp1 HG04199.hp2 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp2 NA19074.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0043 a0001c0008t0014	a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0188 others(11): Show a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0188 a0001c0001t0003g0238 a0001c0001t0004g0124 a0001c0001t0006g0024 a0001c0001t0008g0015 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0011g0170 a0001c0001t0012g0064 a0001c0001t0019g0178 a0001c0001t0043g0105 a0001c0008t0014g0165	14	252	0.0556	32	c.356 others(51): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG GGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(25): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00642.hp1 others(33): Show HG00323.hp1 HG00323.hp2 HG00642.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02647.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG06807.hp1 NA18747.hp2 NA18989.hp2 NA19068.hp2 NA19087.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0045 a0001c0001t0052 a0001c0001t0057 a0001c0007t0038 a0002c0002t0030 a0002c0002t0033 a0002c0002t0059	a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0106 others(33): Show a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0100 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0004g0128 a0001c0001t0004g0137 a0001c0001t0005g0014 a0001c0001t0005g0027 a0001c0001t0005g0182 a0001c0001t0006g0067 a0001c0001t0007g0217 a0001c0001t0009g0020 a0001c0001t0009g0146 a0001c0001t0014g0233 a0001c0001t0014g0237 a0001c0001t0015g0193 a0001c0001t0017g0194 a0001c0001t0019g0063 a0001c0001t0021g0184 a0001c0001t0045g0190 a0001c0001t0052g0133 a0001c0001t0057g0229 a0001c0007t0038g0158 a0002c0002t0030g0208 a0002c0002t0033g0221 a0002c0002t0059g0200	36	252	0.1429	32	c.355 others(51): Show c.355+56855_355+56856insCTTTTCTCTTTTCTTTTCTTTTCTTT TCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0029 a0016c0017t0029	a0016c0017t0029g0017 a0016c0017t0029g0017	1	300	0.0033	32	c.499 others(47): Show c.499+383_499+384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AURKA_chr20_56364390_56397215	56365578	T T	TGTTTTCG others(25): Show TGTTTTCGTTGTTTGCTGTGCTGAACTGGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	32	c.45 others(43): Show c.4579_*4580insCAGACCAGTTCAGCACAGCAAACAACGAAAAC	AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding		3811		chr20	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	428	0.0023	32	c.-41 others(43): Show c.-4104_-4103insGTGTGTGTGTGTGTATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01361.hp1 HG02056.hp1 others(9): Show HG00673.hp1 HG01361.hp1 HG02056.hp1 HG02257.hp1 HG02451.hp2 HG02723.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19030.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0065	12	428	0.0280	32	c.-41 others(43): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01069.hp1 others(7): Show HG00408.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01358.hp2 HG02145.hp2 NA18972.hp1 NA18982.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0084	10	428	0.0234	32	c.-41 others(43): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar

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