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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ALPL_chr1_21504423_21583410	21554788	CCTGTCTG others(5): Show CCTGTCTGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01928.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG03017.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG04115.hp2 NA18953.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18989.hp2 NA19057.hp2 NA19077.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0014 a0003c0004 a0004c0006 a0008c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0005t0006 a0002c0002t0001 a0002c0002t0012 a0002c0014t0001 a0003c0004t0005 a0004c0006t0004 a0008c0015t0001	a0001c0001t0002g0024 a0001c0001t0002g0069 a0001c0001t0002g0086 others(29): Show a0001c0001t0002g0024 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0003g0084 a0001c0001t0003g0272 a0001c0001t0004g0029 a0001c0001t0004g0255 a0001c0001t0006g0040 a0001c0001t0006g0094 a0001c0001t0006g0102 a0001c0001t0006g0363 a0001c0001t0007g0129 a0001c0001t0008g0316 a0001c0001t0014g0351 a0001c0005t0006g0092 a0002c0002t0001g0049 a0002c0002t0001g0064 a0002c0002t0001g0087 a0002c0002t0001g0213 a0002c0002t0001g0324 a0002c0002t0001g0336 a0002c0002t0001g0342 a0002c0002t0001g0357 a0002c0002t0012g0123 a0002c0014t0001g0212 a0003c0004t0005g0003 a0003c0004t0005g0239 a0004c0006t0004g0169 a0008c0015t0001g0356	33	370	0.0892	-12	c.61+ others(25): Show c.61+665_61+676delGTCTGTCTGTCT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21554807	GTCTGTCT others(5): Show GTCTGTCTGTCTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02451.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG02451.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0143 others(1): Show a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0012g0174	4	370	0.0108	-12	c.61+ others(25): Show c.61+669_61+680delGTCTGTCTTTCT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21576275	ATGGATGG others(5): Show ATGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0147 a0001c0008t0004g0278 a0001c0008t0004g0147 a0001c0008t0004g0278	2	370	0.0054	-12	c.119 others(29): Show c.1190-235_1190-224delGTGGATGGATGG		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPP_chr2_232373751_232387889	232385109	AAGAAGAA others(5): Show AAGAAGAAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0005 a0002c0005t0001g0005	1	410	0.0024	-12	c.33 others(23): Show c.3315_*3326delAGAAGAAGGAGG		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2221		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385156	GGAGGAGG others(5): Show GGAGGAGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0018 a0019c0028t0001g0018	1	410	0.0024	-12	c.33 others(23): Show c.3362_*3373delGAGGAGGAGGAA		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2268		chr2	TogoVar
ALS2_chr2_201695267_201785933	201697897	CTGATGCC others(5): Show CTGATGCCTGGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02647.hp1 others(2): Show HG02258.hp1 HG02486.hp2 HG02647.hp1 HG03195.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0261 a0003c0007t0001g0034 a0003c0007t0001g0036 others(2): Show a0001c0001t0001g0261 a0003c0007t0001g0034 a0003c0007t0001g0036 a0003c0007t0001g0037 a0003c0007t0001g0079	5	354	0.0141	-12	c.39 others(23): Show c.3942_*3953delTGCCAGGCATCA		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding					2369		chr2	TogoVar
ALS2_chr2_201695267_201785933	201713133	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	354	0.0028	-12	c.400 others(31): Show c.4005-2037_4005-2026delAAAAAAAAAAAA		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	25/33						chr2	TogoVar
ALS2_chr2_201695267_201785933	201719590	AAAAAATA others(5): Show AAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0003c0007 a0004c0008 a0007c0013	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0009t0001 a0003c0007t0001 a0004c0008t0001 a0007c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 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 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0008g0280 a0001c0003t0001g0173 a0001c0009t0001g0016 a0001c0009t0001g0229 a0001c0009t0001g0312 a0003c0007t0001g0034 a0003c0007t0001g0036 a0003c0007t0001g0037 a0003c0007t0001g0079 a0004c0008t0001g0236 a0004c0008t0001g0237 a0004c0008t0001g0240 a0004c0008t0001g0241 a0007c0013t0001g0019	121	354	0.3418	-12	c.370 others(31): Show c.3703-1392_3703-1381delATTTTTATTTTT		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	23/33						chr2	TogoVar
ALS2_chr2_201695267_201785933	201764634	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	354	0.0028	-12	c.175 others(29): Show c.175+2583_175+2594delATTTATTTATTT		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33						chr2	TogoVar
ALS2_chr2_201695267_201785933	201774629	CTACTCAA others(5): Show CTACTCAACTATT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	354	0.0028	-12	c.-60 others(29): Show c.-60-5696_-60-5685delAATAGTTGAGTA		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	1/33						chr2	TogoVar
ALX1_chr12_85275220_85306784	85276875	TCATATAT others(5): Show TCATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03540.hp2 HG02630.hp2 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0089 a0001c0002t0001g0044 a0001c0002t0001g0089	3	384	0.0078	-12	c.-33 others(23): Show c.-3386_-3375delCATATATATATA		ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding					3344		chr12	TogoVar
ALX4_chr11_44255440_44315139	44293099	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(72): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19089.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0027 a0001c0030 a0002c0003 a0002c0004 a0002c0008 a0003c0006 a0003c0010 a0004c0009 a0006c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0019 a0001c0002t0031 a0001c0002t0052 a0001c0005t0005 a0001c0005t0006 a0001c0005t0060 a0001c0007t0004 a0001c0027t0050 a0001c0030t0026 a0002c0003t0001 a0002c0003t0004 a0002c0003t0018 a0002c0004t0004 a0002c0004t0005 a0002c0008t0005 a0002c0008t0006 a0003c0006t0024 a0003c0010t0001 a0003c0010t0012 a0003c0010t0048 a0004c0009t0007 a0004c0009t0009 a0004c0009t0011 a0004c0009t0016 a0006c0022t0009	a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0257 others(70): Show a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0257 a0001c0001t0001g0276 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0322 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0001t0001g0369 a0001c0001t0001g0378 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0279 a0001c0001t0002g0338 a0001c0001t0004g0239 a0001c0001t0004g0288 a0001c0001t0017g0357 a0001c0002t0001g0287 a0001c0002t0001g0379 a0001c0002t0003g0225 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0314 a0001c0002t0003g0360 a0001c0002t0004g0210 a0001c0002t0005g0237 a0001c0002t0005g0238 a0001c0002t0005g0289 a0001c0002t0005g0290 a0001c0002t0005g0337 a0001c0002t0006g0323 a0001c0002t0007g0356 a0001c0002t0007g0371 a0001c0002t0008g0321 a0001c0002t0008g0354 a0001c0002t0011g0301 a0001c0002t0019g0312 a0001c0002t0031g0229 a0001c0002t0052g0193 a0001c0005t0005g0358 a0001c0005t0006g0007 a0001c0005t0006g0305 a0001c0005t0006g0339 a0001c0005t0006g0377 a0001c0005t0060g0181 a0001c0007t0004g0006 a0001c0027t0050g0224 a0001c0030t0026g0302 a0002c0003t0001g0047 a0002c0003t0001g0135 a0002c0003t0004g0116 a0002c0003t0018g0061 a0002c0004t0004g0151 a0002c0004t0005g0143 a0002c0008t0005g0046 a0002c0008t0006g0071 a0003c0006t0024g0020 a0003c0006t0024g0027 a0003c0010t0001g0016 a0003c0010t0012g0028 a0003c0010t0012g0029 a0003c0010t0048g0015 a0004c0009t0007g0170 a0004c0009t0009g0168 a0004c0009t0009g0169 a0004c0009t0009g0174 a0004c0009t0011g0176 a0004c0009t0016g0175 a0006c0022t0009g0166	75	388	0.1933	-12	c.466 others(31): Show c.466+16486_466+16497delCTTCCTTCCTTC		ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3						chr11	TogoVar
ALX4_chr11_44255440_44315139	44293160	GAAGGAAG others(5): Show GAAGGAAGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02735.hp1 others(2): Show HG01243.hp1 HG01884.hp2 HG02735.hp1 HG02976.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0011 a0002c0003 others(1): Show a0001c0002 a0001c0011 a0002c0003 a0003c0014	a0001c0002t0025 a0001c0011t0020 a0002c0003t0017 others(1): Show a0001c0002t0025 a0001c0011t0020 a0002c0003t0017 a0003c0014t0003	a0001c0002t0025g0004 a0001c0011t0020g0265 a0002c0003t0017g0136 others(1): Show a0001c0002t0025g0004 a0001c0011t0020g0265 a0002c0003t0017g0136 a0003c0014t0003g0040	5	388	0.0129	-12	c.466 others(31): Show c.466+16425_466+16436delGCTTCCTTCCTT		ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3						chr11	TogoVar
ALX4_chr11_44255440_44315139	44309737	TGCTGCGG others(5): Show TGCTGCGGCTGCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp2 HG02572.hp2 HG02922.hp1 others(8): Show HG01243.hp2 HG02572.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2	a0004 a0006 a0004 a0006	a0004c0009 a0004c0023 a0004c0024 others(1): Show a0004c0009 a0004c0023 a0004c0024 a0006c0022	a0004c0009t0007 a0004c0009t0009 a0004c0009t0011 others(5): Show a0004c0009t0007 a0004c0009t0009 a0004c0009t0011 a0004c0009t0013 a0004c0009t0016 a0004c0023t0044 a0004c0024t0001 a0006c0022t0009	a0004c0009t0007g0170 a0004c0009t0009g0168 a0004c0009t0009g0169 others(8): Show a0004c0009t0007g0170 a0004c0009t0009g0168 a0004c0009t0009g0169 a0004c0009t0009g0172 a0004c0009t0009g0174 a0004c0009t0011g0176 a0004c0009t0013g0171 a0004c0009t0016g0175 a0004c0023t0044g0167 a0004c0024t0001g0173 a0006c0022t0009g0166	11	388	0.0284	-12	c.314 others(19): Show c.314_325delCGCAGCCGCAGC	p.Pro others(13): Show p.Pro105_Gln108del	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	402/5727	314/1236	105/411			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46425307	CATTTGTG others(5): Show CATTTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(6): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02572.hp2 HG03540.hp2 NA19030.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0002 a0003c0010t0002 a0001c0002t0002 a0003c0010t0002	a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0102 others(6): Show a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0102 a0001c0002t0002g0129 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0151 a0003c0010t0002g0149	9	160	0.0563	-12	c.297 others(31): Show c.2977-7267_2977-7256delACACACACAAAT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46425310	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	160	0.0063	-12	c.297 others(31): Show c.2977-7270_2977-7259delCACACACACACA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46447708	GTAGATAG others(5): Show GTAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01243.hp1 others(34): Show HG00673.hp1 HG01074.hp1 HG01243.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG04115.hp1 NA18906.hp1 NA18960.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 others(34): Show a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0003g0020 a0001c0001t0007g0049 a0001c0002t0002g0013 a0001c0002t0002g0102 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0152 a0001c0003t0001g0004 a0001c0003t0004g0008 a0001c0003t0004g0011 a0001c0005t0001g0012 a0001c0009t0001g0031	37	160	0.2313	-12	c.252 others(31): Show c.2522-4122_2522-4111delTCTATCTATCTA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	11/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46486908	CATAAATA others(5): Show CATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(9): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02723.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0010 a0001c0001 a0001c0002 a0003c0010	a0001c0001t0001 a0001c0002t0002 a0003c0010t0002 a0001c0001t0001 a0001c0002t0002 a0003c0010t0002	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(9): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0129 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0003c0010t0002g0149	12	160	0.0750	-12	c.252 others(31): Show c.2521+6688_2521+6699delTTATTTATTTAT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	11/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46519366	AAGTCTGG others(5): Show AAGTCTGGGTACT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0005t0001g0012 a0001c0005t0001g0022	2	160	0.0125	-12	c.207 others(31): Show c.2073-6565_2073-6554delAGTACCCAGACT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG02451.hp1 others(1): Show HG01074.hp1 HG01081.hp1 HG02451.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0137	4	160	0.0250	-12	c.-12 others(31): Show c.-120-3880_-120-3869delTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585685	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	160	0.0063	-12	c.-12 others(31): Show c.-121+8131_-121+8142delATTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	160	0.0063	-12	c.-12 others(31): Show c.-121+8121_-121+8132delATATATATATAT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG02630.hp2 HG02886.hp1 HG01070.hp1 HG02630.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0001 a0001c0002t0002 a0002c0011t0001 a0001c0001t0001 a0001c0002t0002 a0002c0011t0001	a0001c0001t0001g0054 a0001c0002t0002g0143 a0002c0011t0001g0118 a0001c0001t0001g0054 a0001c0002t0002g0143 a0002c0011t0001g0118	3	160	0.0188	-12	c.-18 others(23): Show c.-1840_-1829delTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding					1513		chr11	TogoVar
AMD1_chr6_110869785_110900713	110899071	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	394	0.0025	-12	c.54 others(23): Show c.5456_*5467delTTTTTTTTTTTT		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding					3359		chr6	TogoVar
AMDHD1_chr12_95938331_95973720	95944327	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0242 a0001c0001t0001g0243	2	404	0.0050	-12	c.137 others(27): Show c.137+828_137+839delATTTATTTATTT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95946576	GCTCCCCC others(5): Show GCTCCCCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(11): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01515.hp2 HG01891.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02735.hp1 HG02896.hp2 HG03098.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0001c0001t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0010 a0002c0003t0001g0010 a0002c0003t0001g0023 others(9): Show a0001c0001t0001g0010 a0002c0003t0001g0010 a0002c0003t0001g0023 a0002c0003t0001g0058 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0073 a0002c0003t0001g0081 a0004c0005t0001g0063 a0004c0005t0001g0064	14	404	0.0347	-12	c.137 others(29): Show c.137+3095_137+3106delCCTCCCCCTCCC		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2517713	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02647.hp1 HG00099.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0080 a0001c0001t0001g0001 a0001c0001t0001g0080	2	318	0.0063	-12	c.-27 others(23): Show c.-2745_-2734delTGTGTGTGTGTG		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					2657		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2520251	GGGGCGGG others(5): Show GGGGCGGGCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01928.hp1 HG02145.hp2 others(11): Show HG01891.hp1 HG01928.hp1 HG02145.hp2 HG02451.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp1 NA18971.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0010g0082 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0010g0082 a0001c0001t0012g0083 a0001c0001t0013g0085 a0001c0001t0022g0046	14	318	0.0440	-12	c.-20 others(21): Show c.-207_-196delGGGCGGGCGGGC		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					119		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2525931	GGCCTCCC others(5): Show GGCCTCCCAAAGT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	318	0.0031	-12	c.361 others(29): Show c.361-1627_361-1616delCTCCCAAAGTGC		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2530762	GAGGGCCT others(5): Show GAGGGCCTGGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	318	0.0031	-12	c.12 others(23): Show c.1205_*1216delCTGGGGCAGGGC		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	11/11				1205	INFO_REALIGN_3_PRIME	chr16	TogoVar
AMER2_chr13_25156679_25177288	25174825	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03041.hp1 NA18944.hp2 others(2): Show HG02451.hp2 HG03041.hp1 NA18944.hp2 NA18960.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0080 a0001c0001t0086 a0001c0001t0002 a0001c0001t0080 a0001c0001t0086	a0001c0001t0002g0000 a0001c0001t0080g0000 a0001c0001t0086g0000 a0001c0001t0002g0000 a0001c0001t0080g0000 a0001c0001t0086g0000	5	416	0.0120	-12	c.-32 others(23): Show c.-3218_-3207delAAAGAAAGAAAG		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2538		chr13	TogoVar
AMER3_chr2_130750540_130773134	130771026	TTTGCTGT others(5): Show TTTGCTGTTAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	360	0.0028	-12	c.63 others(23): Show c.6369_*6380delTTGCTGTTAAAA		AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding					2893		chr2	TogoVar
AMFR_chr16_56356452_56430545	56398663	ACCACAAC others(5): Show ACCACAACATATC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	356	0.0028	-12	c.108 others(31): Show c.1085+3058_1085+3069delGATATGTTGTGG		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109510370	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02040.hp1 HG02074.hp1 others(16): Show HG01243.hp2 HG02040.hp1 HG02074.hp1 HG02132.hp2 HG02145.hp1 HG02572.hp2 HG02630.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp2 HG06807.hp2 NA18947.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 others(6): Show a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0007g0007 a0001c0001t0009g0010 a0001c0001t0010g0011 a0001c0001t0021g0023 a0001c0001t0024g0026	19	400	0.0475	-12	c.-10 others(23): Show c.-1050_-1039delGTGTGTGTGTGT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					644		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109511255	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp2 others(13): Show HG00140.hp2 HG00609.hp2 HG00639.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01516.hp1 HG01884.hp1 NA19012.hp1 NA19074.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0026 a0003c0004t0001 a0001c0001t0001 a0001c0001t0026 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0026g0029 a0003c0004t0001g0036 a0001c0001t0001g0001 a0001c0001t0026g0029 a0003c0004t0001g0036	16	400	0.0400	-12	c.-19 others(23): Show c.-1935_-1924delCTTTCTTTCTTT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1529		chr1	TogoVar
AMMECR1L_chr2_127856630_127890956	127885610	ACATGGCC others(5): Show ACATGGCCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	334	0.0030	-12	c.-14 others(29): Show c.-149+188_-149+199delCCTCAGGCCATG		AMMECR1L	ENSG00000144233.12	transcript	ENST00000272647.10	protein_coding	1/7						chr2	TogoVar
AMMECR1_chrX_110189186_110323085	110260508	GTACTTTA others(5): Show GTACTTTAATTCT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0124 a0001c0001t0001g0096 a0001c0001t0001g0124	2	155	0.0129	-12	c.584 others(29): Show c.584+3969_584+3980delAGAATTAAAGTA		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	2/5						chrX	TogoVar
AMMECR1_chrX_110189186_110323085	110270927	GTATTGAT others(5): Show GTATTGATCTGAT	G G	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	155	0.0065	-12	c.474 others(29): Show c.474-6340_474-6329delATCAGATCAATA		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	1/5						chrX	TogoVar
AMMECR1_chrX_110189186_110323085	110313702	GACCTAAA others(5): Show GACCTAAAATCAT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18988.hp1 NA19075.hp1 NA18971.hp1 NA18988.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143	3	155	0.0194	-12	c.473 others(29): Show c.473+3885_473+3896delATGATTTTAGGT		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	1/5						chrX	TogoVar
AMN1_chr12_31666142_31734021	31710551	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03834.hp2 HG02602.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0363 a0001c0001t0009g0366 a0001c0001t0001g0363 a0001c0001t0009g0366	2	432	0.0046	-12	c.39- others(27): Show c.39-1138_39-1127delGTGTGTGTGTGT		AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	1/6						chr12	TogoVar
AMN1_chr12_31666142_31734021	31722130	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02258.hp2 HG02647.hp1 others(3): Show HG00733.hp2 HG02258.hp2 HG02647.hp1 HG03139.hp1 HG03195.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0047 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0208 a0001c0001t0005g0379	6	432	0.0139	-12	c.38+ others(27): Show c.38+6829_38+6840delGTGTGTGTGTGT		AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	1/6						chr12	TogoVar
AMN1_chr12_31666142_31734021	31726968	CATTTATT others(5): Show CATTTATTTATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(94): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18963.hp1 NA18964.hp1 NA18974.hp2 NA19000.hp1 NA19010.hp1 NA19055.hp2 NA19062.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0004t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 others(85): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0014 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0003g0002 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0384 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0081 a0001c0001t0004g0107 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0012g0091 a0001c0004t0002g0389	97	432	0.2245	-12	c.38+ others(27): Show c.38+1991_38+2002delAGATAAATAAAT		AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	1/6						chr12	TogoVar
AMN_chr14_102917663_102935842	102919147	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02970.hp2 NA18906.hp1 others(1): Show HG01884.hp2 HG02970.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0090 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0090	4	452	0.0089	-12	c.-35 others(23): Show c.-3541_-3530delTTTTTTTTTTTT		AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding					3515		chr14	TogoVar
AMOTL1_chr11_94763356_94881748	94787687	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02056.hp2 HG02647.hp1 others(8): Show HG01934.hp2 HG02056.hp2 HG02647.hp1 HG02818.hp2 HG03516.hp1 HG03579.hp2 NA18951.hp2 NA18972.hp1 NA19082.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0009 a0001c0001t0017 a0001c0001t0033 others(3): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0005t0052	a0001c0001t0009g0154 a0001c0001t0017g0194 a0001c0001t0017g0203 others(8): Show a0001c0001t0009g0154 a0001c0001t0017g0194 a0001c0001t0017g0203 a0001c0001t0033g0198 a0001c0002t0002g0157 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0003g0166 a0001c0002t0003g0191 a0001c0005t0052g0197	11	246	0.0447	-12	c.50- others(27): Show c.50-7295_50-7284delAAAAAAAAAAAA		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94840675	TATATATA others(5): Show TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19090.hp2 NA18985.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0164 a0001c0002t0014g0165 a0001c0002t0014g0164 a0001c0002t0014g0165	2	246	0.0081	-12	c.164 others(31): Show c.1648+9136_1648+9147delTATATACACACA		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134372558	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18973.hp2 NA18957.hp1 NA18973.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0044 a0005c0007t0003g0044	2	336	0.0060	-12	c.-61 others(29): Show c.-61-1076_-61-1065delGTGTGTGTGTGT		AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	1/9						chr3	TogoVar
AMOT_chrX_112769877_112845831	112805370	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp1 HG03540.hp1 others(1): Show HG02818.hp2 HG02970.hp1 HG03540.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0005 a0001c0004t0002 a0002c0003t0007 a0001c0001t0005 a0001c0004t0002 a0002c0003t0007	a0001c0001t0005g0023 a0001c0001t0005g0148 a0001c0004t0002g0015 others(1): Show a0001c0001t0005g0023 a0001c0001t0005g0148 a0001c0004t0002g0015 a0002c0003t0007g0020	4	270	0.0148	-12	c.163 others(29): Show c.1631-290_1631-279delGTGTGTGTGTGT		AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	7/13						chrX	TogoVar
AMOT_chrX_112769877_112845831	112831445	CAATAAAT others(5): Show CAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02055.hp1 others(26): Show HG01106.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015	a0001c0001t0003g0199 a0001c0001t0004g0026 a0001c0001t0004g0141 others(26): Show a0001c0001t0003g0199 a0001c0001t0004g0026 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0005g0011 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0005g0059 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0128 a0001c0001t0005g0148 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0235 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0257 a0001c0001t0008g0025 a0001c0001t0008g0129 a0001c0001t0010g0012 a0001c0001t0010g0024 a0001c0001t0010g0048 a0001c0001t0010g0253 a0001c0001t0015g0022 a0001c0001t0015g0126	29	270	0.1074	-12	c.-21 others(29): Show c.-212+837_-212+848delTATTTATTTATT		AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	2/13						chrX	TogoVar
AMPD1_chr1_114668098_114700546	114677799	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00621.hp1 others(46): Show HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01106.hp2 HG01258.hp1 HG01361.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG03017.hp1 HG04115.hp1 HG06807.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18978.hp2 NA18992.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19068.hp2 NA19084.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0007c0007 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0014t0001 a0007c0007t0001 a0009c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 others(27): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0220 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0014t0001g0123 a0007c0007t0001g0165 a0007c0007t0001g0187 a0009c0020t0001g0054	49	358	0.1369	-12	c.122 others(28): Show c.1224+99_1224+110delAGGAAGGAAGGA		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/15						chr1	TogoVar
AMPD1_chr1_114668098_114700546	114693117	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18962.hp1 HG02451.hp2 NA18962.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0153 a0008c0011t0001g0164 a0001c0001t0001g0153 a0008c0011t0001g0164	2	358	0.0056	-12	c.34+ others(25): Show c.34+307_34+318delATTTATTTATTT		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	2/15						chr1	TogoVar

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