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
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCTCTC others(3): Show TCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18963.hp2 NA18964.hp2 others(2): Show NA18946.hp2 NA18963.hp2 NA18964.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0002c0002 a0003c0012 others(2): Show a0001c0001 a0002c0002 a0003c0012 a0009c0008 a0010c0010	a0001c0001t0001 a0002c0002t0004 a0003c0012t0001 others(2): Show a0001c0001t0001 a0002c0002t0004 a0003c0012t0001 a0009c0008t0003 a0010c0010t0004	a0001c0001t0001g0179 a0002c0002t0004g0297 a0003c0012t0001g0292 others(2): Show a0001c0001t0001g0179 a0002c0002t0004g0297 a0003c0012t0001g0292 a0009c0008t0003g0314 a0010c0010t0004g0298	5	320	0.0156	10	c.-82 others(19): Show c.-821_-820insTGTGAGAGAG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		473		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58630592	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02080.hp1 HG02056.hp2 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0245 a0002c0002t0001g0246 a0001c0001t0001g0245 a0002c0002t0001g0246	2	320	0.0063	10	c.-18 others(21): Show c.-1850_-1849insGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		1502		chr18	TogoVar
ALPK3_chr15_84812356_84878479	84833957	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01081.hp1 others(18): Show HG00558.hp1 HG00673.hp2 HG01081.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02698.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG06807.hp1 NA18943.hp2 NA18968.hp1 NA18968.hp2 NA18986.hp1 NA19005.hp1 NA19010.hp2 NA19072.hp2 NA20129.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0018 a0020 a0029	a0001c0001 a0001c0002 a0002c0006 others(4): Show a0001c0001 a0001c0002 a0002c0006 a0005c0011 a0018c0029 a0020c0032 a0029c0028	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0002c0006t0006 a0005c0011t0010 a0018c0029t0011 a0020c0032t0005 a0029c0028t0006	a0001c0001t0001g0124 a0001c0001t0001g0192 a0001c0001t0001g0197 others(16): Show a0001c0001t0001g0124 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0005g0108 a0001c0001t0017g0289 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0002g0027 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0232 a0001c0002t0002g0244 a0002c0006t0006g0016 a0002c0006t0006g0088 a0002c0006t0006g0115 a0005c0011t0010g0284 a0018c0029t0011g0087 a0020c0032t0005g0207 a0029c0028t0006g0249	21	340	0.0618	10	c.305 others(27): Show c.305-5001_305-4992dupGTGTGTGTGT	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84847208	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03017.hp1 HG03710.hp2 others(1): Show HG02165.hp2 HG03017.hp1 HG03710.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0005g0173 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0005g0173 a0001c0001t0005g0238	4	340	0.0118	10	c.165 others(29): Show c.1653+6308_1653+6317dupAGAGAGAGAG	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02071.hp2 HG03831.hp2 others(2): Show HG01433.hp2 HG02071.hp2 HG03831.hp2 NA19002.hp1 NA19087.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0007c0026 a0001c0001 a0007c0017 a0007c0026	a0001c0001t0005 a0007c0017t0025 a0007c0026t0005 a0001c0001t0005 a0007c0017t0025 a0007c0026t0005	a0001c0001t0005g0175 a0001c0001t0005g0176 a0007c0017t0025g0071 others(2): Show a0001c0001t0005g0175 a0001c0001t0005g0176 a0007c0017t0025g0071 a0007c0026t0005g0069 a0007c0026t0005g0070	5	340	0.0147	10	c.165 others(29): Show c.1654-5486_1654-5477dupACACACACAC	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02630.hp1 HG03471.hp1 HG01496.hp1 HG02630.hp1 HG03471.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0005 a0011c0018t0005	a0011c0018t0005g0014 a0011c0018t0005g0093 a0011c0018t0005g0014 a0011c0018t0005g0093	3	340	0.0088	10	c.165 others(29): Show c.1654-5512_1654-5511insTACACACACA	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp2 HG03491.hp2 HG01070.hp1 HG01106.hp2 HG03491.hp2	a0003 a0006 a0008 a0003 a0006 a0008	a0003c0050 a0006c0009 a0008c0014 a0003c0050 a0006c0009 a0008c0014	a0003c0050t0003 a0006c0009t0005 a0008c0014t0003 a0003c0050t0003 a0006c0009t0005 a0008c0014t0003	a0003c0050t0003g0047 a0006c0009t0005g0057 a0008c0014t0003g0089 a0003c0050t0003g0047 a0006c0009t0005g0057 a0008c0014t0003g0089	3	340	0.0088	10	c.165 others(29): Show c.1654-5512_1654-5511insTATACACACA	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850914	A A	ACACACAC others(3): Show ACACACACACC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp1 HG02895.hp2 HG02976.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0005 a0013c0023t0005	a0013c0023t0005g0195 a0013c0023t0005g0196 a0013c0023t0005g0195 a0013c0023t0005g0196	2	340	0.0059	10	c.165 others(29): Show c.1654-5477_1654-5476insACACACACCC	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(3): Show GTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02895.hp1 HG01099.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0264 a0001c0001t0004g0265	2	370	0.0054	10	c.-10 others(31): Show c.-105+17520_-105+17529dupTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21551719	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02723.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG02723.hp1 HG03098.hp2 NA18944.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0003c0004t0005	a0001c0001t0006g0063 a0001c0001t0008g0353 a0001c0001t0014g0351 others(1): Show a0001c0001t0006g0063 a0001c0001t0008g0353 a0001c0001t0014g0351 a0003c0004t0005g0003	5	370	0.0135	10	c.-10 others(29): Show c.-104-2242_-104-2233dupTTTTTTTTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALS2_chr2_201695267_201785933	201706535	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp1 HG02647.hp1 others(15): Show HG01069.hp1 HG01496.hp1 HG02647.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03491.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18951.hp2 NA18986.hp2 NA19057.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0006 a0003c0007t0001 a0001c0001t0001 a0001c0001t0006 a0003c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0235 a0001c0001t0001g0258 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0321 a0001c0001t0006g0331 a0001c0001t0006g0332 a0003c0007t0001g0036	18	354	0.0509	10	c.458 others(27): Show c.4580+301_4580+310dupTATATATATA	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	29/33			chr2	TogoVar
ALS2_chr2_201695267_201785933	201758760	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(102): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0004c0008 a0007c0013	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0002 a0001c0009t0001 a0001c0011t0001 a0004c0008t0001 a0007c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0008g0280 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0315 a0001c0002t0001g0325 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0009t0001g0016 a0001c0009t0001g0312 a0001c0011t0001g0322 a0004c0008t0001g0236 a0004c0008t0001g0237 a0004c0008t0001g0240 a0004c0008t0001g0241 a0007c0013t0001g0019	105	354	0.2966	10	c.111 others(29): Show c.1114-1011_1114-1002dupCACACACACA	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/33			chr2	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTATAT others(3): Show CTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02922.hp2 HG04115.hp1 others(3): Show HG01515.hp2 HG02922.hp2 HG04115.hp1 NA18974.hp2 NA18991.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0018	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0002 a0002c0018t0002	a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0002t0002g0151 others(3): Show a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0002t0002g0151 a0002c0003t0001g0140 a0002c0005t0002g0028 a0002c0018t0002g0006	6	480	0.0125	10	c.-36 others(21): Show c.-3652_-3651insTCTATATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTAT others(3): Show CTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02280.hp1 HG02572.hp1 others(5): Show HG02132.hp1 HG02280.hp1 HG02572.hp1 HG03516.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0018 a0006c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0002c0003t0001 a0002c0018t0002 a0006c0009t0002	a0001c0001t0001g0147 a0001c0002t0002g0150 a0001c0002t0005g0149 others(4): Show a0001c0001t0001g0147 a0001c0002t0002g0150 a0001c0002t0005g0149 a0001c0002t0006g0146 a0002c0003t0001g0089 a0002c0018t0002g0006 a0006c0009t0002g0030	8	480	0.0167	10	c.-36 others(21): Show c.-3652_-3651insTCTCTATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(3): Show CTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp1 others(6): Show HG00140.hp2 HG00609.hp2 HG00639.hp1 HG01243.hp1 HG01243.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0008 a0004c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0002c0003t0001 a0003c0008t0002 a0004c0006t0002 a0006c0009t0002	a0001c0001t0001g0049 a0001c0001t0002g0132 a0001c0002t0002g0005 others(6): Show a0001c0001t0001g0049 a0001c0001t0002g0132 a0001c0002t0002g0005 a0001c0002t0004g0053 a0001c0004t0001g0228 a0002c0003t0001g0006 a0003c0008t0002g0148 a0004c0006t0002g0049 a0006c0009t0002g0138	9	480	0.0188	10	c.-36 others(21): Show c.-3652_-3651insTCTCTCTATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(3): Show CTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02886.hp1 NA18941.hp1 others(2): Show HG00558.hp1 HG02886.hp1 NA18941.hp1 NA18998.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0002t0004g0053	5	480	0.0104	10	c.-36 others(21): Show c.-3652_-3651insTCTCTCTCTA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588722	T T	TATATATA others(3): Show TATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG04204.hp1 NA18522.hp2 HG02055.hp2 HG04204.hp1 NA18522.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0005 a0021c0030 a0001c0001 a0002c0005 a0021c0030	a0001c0001t0001 a0002c0005t0002 a0021c0030t0006 a0001c0001t0001 a0002c0005t0002 a0021c0030t0006	a0001c0001t0001g0091 a0002c0005t0002g0006 a0021c0030t0006g0141 a0001c0001t0001g0091 a0002c0005t0002g0006 a0021c0030t0006g0141	3	480	0.0063	10	c.-36 others(21): Show c.-3637_-3636insATATATATAA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3533		chr4	TogoVar
AMBN_chr4_70587256_70612288	70590506	G G	GCACACAC others(3): Show GCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp2 others(8): Show HG00140.hp2 HG00280.hp1 HG00735.hp2 HG00738.hp2 HG01975.hp1 HG03669.hp2 NA18747.hp1 NA18942.hp1 NA18949.hp2 NA19059.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0213 a0001c0001t0003g0011 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0213 a0001c0001t0003g0011 a0001c0002t0002g0010 a0001c0004t0001g0008 a0001c0004t0001g0228 a0002c0003t0001g0221 a0002c0003t0001g0224	11	480	0.0229	10	c.-18 others(21): Show c.-1853_-1852insCACACACACA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		1749		chr4	TogoVar
AMBN_chr4_70587256_70612288	70590956	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(120): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02572.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18972.hp1 NA18974.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp2 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0018 a0003c0007 a0004c0006 a0005c0011 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0002 a0002c0018t0002 a0003c0007t0006 a0004c0006t0004 a0005c0011t0002 a0005c0012t0002	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(71): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0038 a0001c0001t0008g0005 a0001c0001t0009g0010 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0034 a0001c0002t0002g0081 a0001c0002t0002g0128 a0001c0002t0002g0212 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0225 a0001c0002t0004g0021 a0001c0004t0001g0008 a0001c0004t0001g0067 a0001c0004t0001g0166 a0001c0004t0001g0211 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0223 a0001c0004t0001g0228 a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0003t0001g0028 a0002c0003t0001g0040 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0082 a0002c0003t0001g0089 a0002c0003t0001g0092 a0002c0003t0001g0221 a0002c0003t0001g0224 a0002c0003t0003g0017 a0002c0005t0002g0006 a0002c0005t0002g0016 a0002c0005t0002g0017 a0002c0005t0002g0028 a0002c0005t0002g0090 a0002c0005t0002g0121 a0002c0018t0002g0006 a0003c0007t0006g0125 a0004c0006t0004g0161 a0005c0011t0002g0036 a0005c0012t0002g0087 a0005c0012t0002g0215	123	480	0.2563	10	c.-14 others(21): Show c.-1403_-1402insAAAAAAAAAA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		1299		chr4	TogoVar
AMBN_chr4_70587256_70612288	70611484	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02451.hp2 HG02630.hp2 others(2): Show HG01192.hp1 HG02451.hp2 HG02630.hp2 HG02717.hp2 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0017 a0001c0002 a0011c0017	a0001c0002t0002 a0001c0002t0005 a0011c0017t0005 a0001c0002t0002 a0001c0002t0005 a0011c0017t0005	a0001c0002t0002g0127 a0001c0002t0005g0018 a0011c0017t0005g0107 a0001c0002t0002g0127 a0001c0002t0005g0018 a0011c0017t0005g0107	5	480	0.0104	10	c.47 others(21): Show c.4754_*4755insAAAAAAAAAA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		4197		chr4	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01123.hp1 others(18): Show HG00423.hp1 HG00735.hp2 HG01123.hp1 HG01496.hp2 HG01884.hp2 HG01993.hp2 HG02258.hp2 HG02280.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG06807.hp2 NA18941.hp2 NA18948.hp1 NA18954.hp1 NA18974.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0054 others(14): Show a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0004t0001g0306	21	454	0.0463	10	c.603 others(27): Show c.603+3313_603+3322dupACACACACAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBP_chr9_114055127_114083300	114069653	G G	GTGGGGTG others(3): Show GTGGGGTGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01884.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0289 a0001c0001t0001g0193 a0001c0001t0001g0289	2	454	0.0044	10	c.603 others(23): Show c.603+36_603+45dupTCCCACCCCA	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46400473	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp2 HG02257.hp1 others(2): Show HG01261.hp2 HG02109.hp2 HG02257.hp1 HG02886.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 others(2): Show a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0143 a0001c0002t0002g0153	5	160	0.0313	10	c.340 others(29): Show c.3404-2540_3404-2531dupAAAAAAAAAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46411390	T T	TGTCCCAG others(3): Show TGTCCCAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 NA19043.hp1 others(1): Show HG01109.hp1 HG02965.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0005t0001g0012 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0005t0001g0012 a0001c0005t0001g0022	4	160	0.0250	10	c.311 others(29): Show c.3117-1032_3117-1023dupCTCCTGGGAC	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	15/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46425310	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02004.hp2 HG02602.hp1 others(5): Show HG01515.hp1 HG02004.hp2 HG02602.hp1 HG03471.hp1 HG03704.hp1 HG03710.hp2 NA18906.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0091	8	160	0.0500	10	c.297 others(29): Show c.2977-7268_2977-7259dupCACACACACA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	160	0.0063	10	c.207 others(31): Show c.2072+14458_2072+14467dupTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	160	0.0063	10	c.-12 others(29): Show c.-120-3878_-120-3869dupTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46583677	A A	AAAAAAAA others(3): Show AAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0010 a0001c0003t0004g0008 a0001c0003t0004g0010	2	160	0.0125	10	c.-12 others(31): Show c.-121+10150_-121+10151insGTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAATATA others(3): Show AAAATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	160	0.0063	10	c.-12 others(29): Show c.-121+8132_-121+8133insATATATATTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	160	0.0063	10	c.-18 others(21): Show c.-1829_-1828insTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding		1513		chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95946059	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	404	0.0025	10	c.137 others(27): Show c.137+2525_137+2526insGTGTGTGTGT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95946061	C C	CTCTCTGT others(3): Show CTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19030.hp2 HG01081.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0091 a0002c0003t0009g0092 a0002c0003t0009g0091 a0002c0003t0009g0092	2	404	0.0050	10	c.137 others(27): Show c.137+2527_137+2528insCTCTGTGTGT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	T T	TAAATAAA others(3): Show TAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01069.hp1 others(19): Show HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG03017.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA19082.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 others(15): Show a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0008g0295	22	404	0.0545	10	c.245 others(25): Show c.245-309_245-300dupTAAAATAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95961144	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	404	0.0025	10	c.813 others(25): Show c.813+523_813+532dupAAAAAAAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95961150	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	404	0.0025	10	c.813 others(25): Show c.813+532_813+533insAAAAGAAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95964032	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(53): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG03239.hp2 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18986.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0011 a0006c0012 a0001c0002 a0001c0011 a0006c0012	a0001c0002t0002 a0001c0002t0003 a0001c0011t0002 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0011t0002 a0006c0012t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 others(28): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0003g0303 a0001c0011t0002g0284 a0006c0012t0002g0259	56	404	0.1386	10	c.938 others(27): Show c.938+1562_938+1571dupAAAAAAAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95964928	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG00741.hp2 others(63): Show HG00408.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01517.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp2 HG02683.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18964.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19055.hp2 NA19066.hp1 NA19068.hp1 NA20805.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0007c0013	a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 a0001c0002t0006 a0001c0004t0002 a0001c0007t0001 a0002c0003t0001 a0002c0003t0008 a0007c0013t0006	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(52): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0010g0017 a0001c0002t0003g0044 a0001c0002t0003g0291 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0301 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0004t0002g0283 a0001c0007t0001g0005 a0002c0003t0001g0078 a0002c0003t0001g0111 a0002c0003t0001g0114 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0008g0104 a0007c0013t0006g0046	66	404	0.1634	10	c.939 others(25): Show c.939-744_939-735dupAAAAAAAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95971932	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01975.hp1 others(6): Show HG01109.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp1 HG03834.hp2 NA18977.hp1 NA18981.hp2 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0014 a0001c0002 a0008c0014	a0001c0002t0003 a0008c0014t0003 a0001c0002t0003 a0008c0014t0003	a0001c0002t0003g0018 a0001c0002t0003g0261 a0001c0002t0003g0262 others(5): Show a0001c0002t0003g0018 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0008c0014t0003g0048	9	404	0.0223	10	c.40 others(21): Show c.4089_*4090insTTTTTTTTTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		3213		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2517713	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG04204.hp1 NA19012.hp1 HG03669.hp2 HG04204.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0003 a0001c0001t0001g0056	3	318	0.0094	10	c.-27 others(21): Show c.-2746_-2745insTGTGTGTGTG	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2657		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2533275	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02040.hp1 others(9): Show HG01167.hp2 HG01243.hp2 HG02040.hp1 HG02486.hp2 HG02630.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 NA18984.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0002t0002g0006 a0001c0003t0001g0013	12	318	0.0377	10	c.37 others(21): Show c.3712_*3713insTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		1859		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG03239.hp2 NA18975.hp1 HG02056.hp2 HG03239.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	3	318	0.0094	10	c.38 others(21): Show c.3867_*3868insTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMER1_chrX_64180117_64210708	64189484	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02970.hp2 others(2): Show HG02451.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0013 a0002c0002t0060 a0001c0003t0013 a0002c0002t0060	a0001c0003t0013g0011 a0001c0003t0013g0160 a0002c0002t0060g0066 a0001c0003t0013g0011 a0001c0003t0013g0160 a0002c0002t0060g0066	5	243	0.0206	10	c.38 others(19): Show c.385_*394dupCACACACACA	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	394		chrX	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTATAT others(3): Show GTGTATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0131 a0001c0001t0085g0131	1	243	0.0041	10	c.36 others(19): Show c.364_*365insTATATATACA	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	364		chrX	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0033 a0001c0003t0035g0033	2	243	0.0082	10	c.36 others(19): Show c.364_*365insTACACACACA	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	364		chrX	TogoVar
AMER1_chrX_64180117_64210708	64201448	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02258.hp1 others(3): Show HG01081.hp1 HG02055.hp1 HG02258.hp1 HG02280.hp1 HG02886.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0001c0003t0049 a0001c0003t0056 others(2): Show a0001c0003t0003 a0001c0003t0049 a0001c0003t0056 a0002c0002t0016 a0002c0002t0052	a0001c0003t0003g0052 a0001c0003t0049g0053 a0001c0003t0056g0054 others(2): Show a0001c0003t0003g0052 a0001c0003t0049g0053 a0001c0003t0056g0054 a0002c0002t0016g0013 a0002c0002t0052g0051	6	243	0.0247	10	c.-99 others(27): Show c.-99+4112_-99+4121dupGTGTGTGTGT	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	1/1			chrX	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(3): Show CCTTCCTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	416	0.0024	10	c.-32 others(21): Show c.-3207_-3206insAAAAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25175293	T T	TCATAGCA others(3): Show TCATAGCATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	1	416	0.0024	10	c.-36 others(21): Show c.-3675_-3674insCAATGCTATG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		3006		chr13	TogoVar
AMFR_chr16_56356452_56430545	56359469	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00639.hp1 others(67): Show HG00099.hp1 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02523.hp2 HG02630.hp2 HG02895.hp1 HG03017.hp2 HG03139.hp1 HG03453.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18981.hp1 NA19000.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0007t0001 a0001c0009t0035	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 others(67): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0201 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0312 a0001c0001t0003g0314 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0170 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0006g0004 a0001c0001t0006g0015 a0001c0001t0006g0021 a0001c0001t0006g0034 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0206 a0001c0001t0010g0208 a0001c0001t0013g0333 a0001c0001t0015g0176 a0001c0001t0016g0141 a0001c0001t0016g0148 a0001c0001t0022g0014 a0001c0001t0022g0043 a0001c0001t0025g0142 a0001c0001t0028g0345 a0001c0001t0031g0008 a0001c0001t0033g0013 a0001c0001t0034g0029 a0001c0001t0042g0169 a0001c0001t0044g0231 a0001c0001t0048g0319 a0001c0001t0052g0344 a0001c0001t0053g0347 a0001c0001t0054g0348 a0001c0007t0001g0168 a0001c0009t0035g0135	70	356	0.1966	10	c.34 others(21): Show c.3439_*3440insTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding		1982		chr16	TogoVar
AMFR_chr16_56356452_56430545	56406076	G G	GGAGGGGG others(3): Show GGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0096 a0001c0001t0008g0096	1	356	0.0028	10	c.667 others(25): Show c.667-833_667-832insTCCCCCCCTC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406121	G G	GGGAGAGG others(3): Show GGGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	356	0.0028	10	c.667 others(25): Show c.667-878_667-877insTCCCCTCTCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar

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