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
ALOXE3_chr17_8090900_8123514	8107994	GGAAGGAA others(3): Show GGAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19076.hp2 HG02818.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0112 a0001c0002t0003g0363 a0001c0001t0002g0112 a0001c0002t0003g0363	2	422	0.0047	-10	c.168 others(27): Show c.1684+464_1684+473delTCTTTCCTTC		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALPG_chr2_232401844_232415714	232405108	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19060.hp1 NA19009.hp2 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	2	434	0.0046	-10	c.-17 others(21): Show c.-1786_-1777delTTTTTTTTTT		ALPG	ENSG00000163286.9	transcript	ENST00000295453.8	protein_coding					1735		chr2	TogoVar
ALPI_chr2_232451153_232465753	232465431	TTTTTATT others(3): Show TTTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02615.hp2 others(3): Show HG02280.hp2 HG02486.hp2 HG02615.hp2 HG03195.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	6	446	0.0135	-10	c.62 others(21): Show c.6286_*6295delTTTTATTTTA		ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding					4679		chr2	TogoVar
ALPK1_chr4_112292369_112447621	112346624	GCCTACTC others(3): Show GCCTACTCTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	306	0.0033	-10	c.-10 others(31): Show c.-101+30775_-101+30784delTACTCTTTCC		ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK1_chr4_112292369_112447621	112440812	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03834.hp1 HG03490.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0242 a0001c0001t0003g0243	2	306	0.0065	-10	c.353 others(25): Show c.3539-82_3539-73delGTGTGTGTGT		ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK2_chr18_58476247_58634091	58502134	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0012 a0012	a0012c0093 a0012c0093	a0012c0093t0001 a0012c0093t0001	a0012c0093t0001g0140 a0012c0093t0001g0140	1	320	0.0031	-10	c.624 others(29): Show c.6247+1787_6247+1796delTGTGTGTGTG		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	11/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58531935	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0087 a0003c0003t0002g0087	1	320	0.0031	-10	c.535 others(29): Show c.5354-2707_5354-2698delTTTTTTTTTT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	5/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58557669	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02630.hp2 others(1): Show HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02886.hp1	a0012 a0024 a0035 a0012 a0024 a0035	a0012c0092 a0024c0025 a0035c0036 a0012c0092 a0024c0025 a0035c0036	a0012c0092t0003 a0024c0025t0014 a0035c0036t0003 a0012c0092t0003 a0024c0025t0014 a0035c0036t0003	a0012c0092t0003g0320 a0024c0025t0014g0109 a0024c0025t0014g0111 others(1): Show a0012c0092t0003g0320 a0024c0025t0014g0109 a0024c0025t0014g0111 a0035c0036t0003g0319	4	320	0.0125	-10	c.196 others(31): Show c.1963-19455_1963-19446delACACACACAC		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58557709	TTGTCATT others(3): Show TTGTCATTGGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01069.hp2 others(33): Show HG00140.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG02055.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0006 others(10): Show a0001 a0002 a0006 a0008 a0009 a0012 a0024 a0027 a0032 a0034 a0035 a0058 a0062	a0001c0001 a0001c0006 a0002c0002 others(16): Show a0001c0001 a0001c0006 a0002c0002 a0002c0014 a0006c0024 a0006c0034 a0008c0035 a0008c0041 a0009c0008 a0012c0023 a0012c0092 a0012c0093 a0024c0025 a0027c0058 a0032c0076 a0034c0037 a0035c0036 a0058c0094 a0062c0077	a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 others(26): Show a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0009 a0002c0002t0003 a0002c0014t0001 a0002c0014t0020 a0006c0024t0001 a0006c0024t0005 a0006c0024t0013 a0006c0034t0004 a0008c0035t0006 a0008c0035t0008 a0008c0041t0001 a0008c0041t0003 a0009c0008t0003 a0012c0023t0001 a0012c0023t0013 a0012c0092t0003 a0012c0093t0001 a0024c0025t0010 a0024c0025t0014 a0027c0058t0012 a0032c0076t0010 a0034c0037t0014 a0035c0036t0003 a0035c0036t0013 a0058c0094t0005 a0062c0077t0005	a0001c0001t0001g0217 a0001c0006t0002g0044 a0001c0006t0002g0047 others(33): Show a0001c0001t0001g0217 a0001c0006t0002g0044 a0001c0006t0002g0047 a0001c0006t0002g0048 a0001c0006t0003g0214 a0001c0006t0009g0043 a0001c0006t0009g0045 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0014t0001g0249 a0002c0014t0020g0089 a0006c0024t0001g0271 a0006c0024t0005g0279 a0006c0024t0013g0090 a0006c0034t0004g0153 a0006c0034t0004g0247 a0008c0035t0006g0058 a0008c0035t0008g0149 a0008c0041t0001g0136 a0008c0041t0003g0135 a0009c0008t0003g0314 a0012c0023t0001g0137 a0012c0023t0013g0092 a0012c0092t0003g0320 a0012c0093t0001g0140 a0024c0025t0010g0110 a0024c0025t0014g0109 a0024c0025t0014g0111 a0027c0058t0012g0093 a0032c0076t0010g0114 a0034c0037t0014g0106 a0034c0037t0014g0108 a0035c0036t0003g0319 a0035c0036t0013g0107 a0058c0094t0005g0315 a0062c0077t0005g0272	36	320	0.1125	-10	c.196 others(31): Show c.1963-19495_1963-19486delTCCAATGACA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58630608	CACACACA others(3): Show CACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0022 a0020c0019t0022	a0020c0019t0022g0233 a0020c0019t0022g0233	1	320	0.0031	-10	c.-18 others(21): Show c.-1875_-1866delATGTGTGTGT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding					1518		chr18	TogoVar
ALPK3_chr15_84812356_84878479	84838628	ATTATTAT others(3): Show ATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0011 a0018c0029t0011	a0018c0029t0011g0087 a0018c0029t0011g0087	1	340	0.0029	-10	c.305 others(25): Show c.305-350_305-341delTATTATTATT		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84847208	GGAGAGAG others(3): Show GGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0139 a0001c0001t0012g0080 a0001c0001t0001g0139 a0001c0001t0012g0080	2	340	0.0059	-10	c.165 others(29): Show c.1653+6308_1653+6317delAGAGAGAGAG		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPL_chr1_21504423_21583410	21527015	GTTCTTTT others(3): Show GTTCTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(188): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(11): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0001c0018 a0002c0002 a0002c0013 a0002c0014 a0002c0020 a0003c0004 a0005c0007 a0008c0015 a0009c0016 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0003t0005 a0001c0005t0001 a0001c0005t0006 a0001c0017t0002 a0001c0018t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0013t0001 a0002c0014t0001 a0002c0020t0002 a0003c0004t0005 a0005c0007t0002 a0008c0015t0001 a0009c0016t0002 a0010c0011t0001	a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0002g0001 others(187): Show a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0069 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0137 a0001c0001t0002g0159 a0001c0001t0002g0175 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0235 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0320 a0001c0001t0002g0331 a0001c0001t0002g0362 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0096 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0254 a0001c0001t0003g0344 a0001c0001t0003g0347 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0103 a0001c0001t0004g0138 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0040 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0052 a0001c0001t0006g0061 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0236 a0001c0001t0006g0253 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0007g0125 a0001c0001t0009g0059 a0001c0001t0009g0141 a0001c0001t0012g0174 a0001c0003t0005g0318 a0001c0005t0001g0091 a0001c0005t0006g0020 a0001c0005t0006g0031 a0001c0005t0006g0092 a0001c0017t0002g0158 a0001c0018t0002g0201 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0087 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0281 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0297 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0354 a0002c0002t0001g0357 a0002c0002t0002g0068 a0002c0002t0002g0079 a0002c0002t0002g0120 a0002c0002t0003g0325 a0002c0002t0003g0355 a0002c0013t0001g0203 a0002c0014t0001g0212 a0002c0020t0002g0288 a0003c0004t0005g0099 a0003c0004t0005g0100 a0005c0007t0002g0041 a0005c0007t0002g0042 a0008c0015t0001g0356 a0009c0016t0002g0171 a0010c0011t0001g0199	191	370	0.5162	-10	c.-10 others(31): Show c.-105+17520_-105+17529delTCTTTTCTTT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ALYREF_chr17_81882835_81896586	81895050	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	-10	c.-34 others(21): Show c.-3480_-3471delAAAAAAAAAA		ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding					3465		chr17	TogoVar
AMBRA1_chr11_46391414_46599023	46400473	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02818.hp2 others(3): Show HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(3): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0009 a0001c0003t0004g0011	6	160	0.0375	-10	c.340 others(29): Show c.3404-2540_3404-2531delAAAAAAAAAA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46411390	TGTCCCAG others(3): Show TGTCCCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	160	0.0063	-10	c.311 others(29): Show c.3117-1032_3117-1023delCTCCTGGGAC		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	15/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46425310	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 HG03130.hp1 others(1): Show HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0128	4	160	0.0250	-10	c.297 others(29): Show c.2977-7268_2977-7259delCACACACACA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46427094	CAAGGGCA others(3): Show CAAGGGCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02572.hp2 others(7): Show HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03516.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0110 others(7): Show a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152	10	160	0.0625	-10	c.297 others(29): Show c.2976+6370_2976+6379delCCCTGCCCTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46459739	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02615.hp2 others(3): Show HG01109.hp1 HG02451.hp1 HG02615.hp2 HG02922.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0004 a0001c0005t0001 a0001c0001t0001 a0001c0003t0004 a0001c0005t0001	a0001c0001t0001g0137 a0001c0003t0004g0008 a0001c0003t0004g0009 others(3): Show a0001c0001t0001g0137 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0005t0001g0022	6	160	0.0375	-10	c.252 others(31): Show c.2522-16151_2522-16142delGTGTGTGTGT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	11/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46503060	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02723.hp1 others(4): Show HG02559.hp1 HG02622.hp1 HG02723.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0130 a0001c0001t0001g0131 others(4): Show a0001c0001t0001g0062 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154	7	160	0.0438	-10	c.233 others(29): Show c.2339+5121_2339+5130delTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	9/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46581797	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA21309.hp2 HG02886.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0070 a0001c0001t0001g0087	2	160	0.0125	-10	c.-12 others(31): Show c.-121+12021_-121+12030delTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585689	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG03710.hp2 HG00735.hp2 HG01257.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0090 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0090	3	160	0.0188	-10	c.-12 others(29): Show c.-121+8129_-121+8138delATATTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585691	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01515.hp1 others(3): Show HG01109.hp1 HG01261.hp1 HG01515.hp1 HG03017.hp2 HG03688.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0001t0001 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0005g0001 a0001c0005t0001g0022	6	160	0.0375	-10	c.-12 others(29): Show c.-121+8127_-121+8136delATATATTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585693	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02004.hp2 HG02559.hp2 others(3): Show HG01074.hp2 HG02004.hp2 HG02559.hp2 HG03486.hp1 NA18960.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081	6	160	0.0375	-10	c.-12 others(29): Show c.-121+8125_-121+8134delATATATATTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95946059	CTCTGTGT others(3): Show CTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0006 a0007c0013t0006	a0007c0013t0006g0046 a0007c0013t0006g0046	1	404	0.0025	-10	c.137 others(27): Show c.137+2526_137+2535delCTGTGTGTGT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	TAAATAAA others(3): Show TAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	404	0.0025	-10	c.245 others(25): Show c.245-309_245-300delTAAAATAAAA		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMELX_chrX_11288413_11305761	11304777	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp1 HG01884.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	300	0.0067	-10	c.41 others(21): Show c.4166_*4175delTTTTTTTTTT		AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding					4017		chrX	TogoVar
AMER1_chrX_64180117_64210708	64190549	TGGACCAA others(3): Show TGGACCAAGTG	T T	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0070 a0012c0009t0070	a0012c0009t0070g0087 a0012c0009t0070g0087	1	243	0.0041	-10	c.272 others(19): Show c.2728_2737delCACTTGGTCC	p.His others(5): Show p.His910fs	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	2974/8407	2728/3408	910/1135			chrX	TogoVar
AMFR_chr16_56356452_56430545	56361753	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(185): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0002t0012 a0001c0007t0001 a0002c0003t0014 a0004c0005t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 others(185): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0281 a0001c0001t0003g0314 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0265 a0001c0001t0004g0270 a0001c0001t0004g0316 a0001c0001t0006g0004 a0001c0001t0006g0010 a0001c0001t0006g0015 a0001c0001t0006g0019 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0006g0134 a0001c0001t0013g0330 a0001c0001t0013g0331 a0001c0001t0013g0332 a0001c0001t0013g0333 a0001c0001t0013g0334 a0001c0001t0013g0335 a0001c0001t0013g0336 a0001c0001t0013g0337 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 a0001c0001t0017g0354 a0001c0001t0027g0320 a0001c0001t0027g0321 a0001c0001t0028g0345 a0001c0001t0028g0346 a0001c0001t0029g0002 a0001c0001t0031g0008 a0001c0001t0032g0045 a0001c0001t0038g0140 a0001c0001t0039g0233 a0001c0001t0042g0169 a0001c0001t0043g0197 a0001c0001t0048g0319 a0001c0001t0049g0338 a0001c0001t0050g0339 a0001c0001t0051g0343 a0001c0001t0052g0344 a0001c0001t0054g0348 a0001c0001t0056g0351 a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 a0001c0002t0012g0325 a0001c0002t0012g0326 a0001c0002t0012g0327 a0001c0002t0012g0328 a0001c0002t0012g0329 a0001c0007t0001g0168 a0002c0003t0014g0138 a0002c0003t0014g0139 a0004c0005t0001g0152	188	356	0.5281	-10	c.11 others(21): Show c.1146_*1155delTTTTTTTTTT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	14/14				1146		chr16	TogoVar
AMFR_chr16_56356452_56430545	56397180	TATACCCA others(3): Show TATACCCAAAG	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	356	0.0028	-10	c.108 others(29): Show c.1085+4543_1085+4552delCTTTGGGTAT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56404384	CTGAAGGG others(3): Show CTGAAGGGCCA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	356	0.0028	-10	c.840 others(25): Show c.840+515_840+524delTGGCCCTTCA		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	6/13						chr16	TogoVar
AMHR2_chr12_53418855_53436672	53436181	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01255.hp1 others(31): Show HG00609.hp2 HG00673.hp2 HG01255.hp1 HG01358.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp2 HG01993.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18973.hp1 NA18981.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19004.hp2 NA19059.hp1 NA19063.hp2 NA19065.hp2 NA19076.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0004g0063	34	356	0.0955	-10	c.47 others(21): Show c.4709_*4718delAAAAGAAAAG		AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding					4510		chr12	TogoVar
AMH_chr19_2244323_2257073	2253662	AGGCGAGC others(3): Show AGGCGAGCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	-10	c.17 others(21): Show c.1706_*1715delGGCGAGCACC		AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding					1590		chr19	TogoVar
AMIGO1_chr1_109499178_109514727	109510370	TACACACA others(3): Show TACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(96): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG02040.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18954.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19054.hp2 NA19060.hp2 NA19070.hp1 NA19081.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0029	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 others(8): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0006g0006 a0001c0001t0008g0009 a0001c0001t0009g0010 a0001c0001t0018g0020 a0001c0001t0029g0032	99	400	0.2475	-10	c.-10 others(21): Show c.-1048_-1039delGTGTGTGTGT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					644		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109510740	GTTAGCTG others(3): Show GTTAGCTGTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00741.hp1 others(25): Show HG00140.hp1 HG00323.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG02735.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 others(1): Show a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0005	28	400	0.0700	-10	c.-14 others(21): Show c.-1418_-1409delGAACAGCTAA		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1014		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109511253	AAAAAAGA others(3): Show AAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA19066.hp1 NA19077.hp1 NA18941.hp2 NA19066.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	400	0.0075	-10	c.-19 others(21): Show c.-1931_-1922delCTTTCTTTTT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1527		chr1	TogoVar
AMMECR1L_chr2_127856630_127890956	127862865	GATAAAAT others(3): Show GATAAAATAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0137 a0001c0001t0020g0137	1	334	0.0030	-10	c.22 others(21): Show c.2219_*2228delTTTATTTTAT		AMMECR1L	ENSG00000144233.12	transcript	ENST00000272647.10	protein_coding	8/8				2219		chr2	TogoVar
AMMECR1_chrX_110189186_110323085	110239498	AAAAAAGA others(3): Show AAAAAAGAATG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	155	0.0065	-10	c.585 others(29): Show c.585-22876_585-22867delCATTCTTTTT		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	2/5						chrX	TogoVar
AMMECR1_chrX_110189186_110323085	110248390	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	155	0.0065	-10	c.584 others(29): Show c.584+16089_584+16098delCTTTTCTTTT		AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	2/5						chrX	TogoVar
AMN1_chr12_31666142_31734021	31712899	ACGCCTCG others(3): Show ACGCCTCGGCC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG03195.hp2 others(2): Show HG02809.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0377 a0001c0001t0005g0378 a0001c0001t0005g0379 others(2): Show a0001c0001t0005g0377 a0001c0001t0005g0378 a0001c0001t0005g0379 a0001c0001t0005g0380 a0001c0001t0005g0381	5	432	0.0116	-10	c.39- others(25): Show c.39-3484_39-3475delGGCCGAGGCG		AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	1/6						chr12	TogoVar
AMN1_chr12_31666142_31734021	31722130	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(47): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18955.hp2 NA19055.hp2 NA19075.hp1 NA19078.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0209 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050	50	432	0.1157	-10	c.38+ others(25): Show c.38+6831_38+6840delGTGTGTGTGT		AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	1/6						chr12	TogoVar
AMOT_chrX_112769877_112845831	112805370	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00738.hp1 others(42): Show HG00408.hp1 HG00642.hp1 HG00738.hp1 HG01099.hp1 HG01346.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02109.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19011.hp2 NA19077.hp2 NA19081.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0031 a0001c0004t0002	a0001c0001t0001g0112 a0001c0001t0002g0240 a0001c0001t0004g0026 others(40): Show a0001c0001t0001g0112 a0001c0001t0002g0240 a0001c0001t0004g0026 a0001c0001t0006g0196 a0001c0001t0013g0017 a0001c0002t0001g0122 a0001c0002t0001g0225 a0001c0002t0002g0002 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0045 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0070 a0001c0002t0002g0084 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0123 a0001c0002t0002g0183 a0001c0002t0002g0190 a0001c0002t0002g0198 a0001c0002t0002g0217 a0001c0002t0002g0223 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0245 a0001c0002t0017g0124 a0001c0002t0017g0142 a0001c0002t0031g0210 a0001c0004t0002g0085 a0001c0004t0002g0149 a0001c0004t0002g0150 a0001c0004t0002g0157 a0001c0004t0002g0227 a0001c0004t0002g0230 a0001c0004t0002g0236	45	270	0.1667	-10	c.163 others(27): Show c.1631-288_1631-279delGTGTGTGTGT		AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	7/13						chrX	TogoVar
AMOT_chrX_112769877_112845831	112808458	AACCATAC others(3): Show AACCATACAGG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0208 a0001c0001t0006g0208	1	270	0.0037	-10	c.163 others(29): Show c.1630+1426_1630+1435delCCTGTATGGT		AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	7/13						chrX	TogoVar
AMOT_chrX_112769877_112845831	112824822	ACTACCAA others(3): Show ACTACCAAATT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03516.hp1 HG03130.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0004 a0001c0007t0022 a0001c0001t0004 a0001c0007t0004 a0001c0007t0022	a0001c0001t0004g0146 a0001c0007t0004g0027 a0001c0007t0022g0082 a0001c0001t0004g0146 a0001c0007t0004g0027 a0001c0007t0022g0082	3	270	0.0111	-10	c.-63 others(25): Show c.-63+240_-63+249delAATTTGGTAG		AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	3/13						chrX	TogoVar
AMPD3_chr11_10450264_10512579	10457938	GATCTGGC others(3): Show GATCTGGCATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(74): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18959.hp1 NA18968.hp1 NA18988.hp1 NA18998.hp1 NA19007.hp2 NA19054.hp1 NA19067.hp1 NA19074.hp2 NA19078.hp2 NA19086.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0012 a0002c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0003t0014 a0001c0013t0011 a0002c0012t0026 a0002c0024t0010	a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0043 others(65): Show a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0051 a0001c0001t0004g0069 a0001c0001t0004g0122 a0001c0001t0007g0037 a0001c0001t0010g0038 a0001c0001t0011g0031 a0001c0001t0013g0041 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0006g0075 a0001c0002t0006g0077 a0001c0003t0003g0032 a0001c0003t0014g0007 a0001c0013t0011g0178 a0002c0012t0026g0040 a0002c0024t0010g0042	77	390	0.1974	-10	c.-6+ others(25): Show c.-6+2492_-6+2501delTCTGGCATAA		AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10499089	GCAAGGAC others(3): Show GCAAGGACCCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02630.hp2 others(7): Show HG01884.hp1 HG02145.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0011 others(2): Show a0001c0001 a0001c0003 a0004c0011 a0004c0014 a0004c0015	a0001c0001t0007 a0001c0003t0007 a0001c0003t0021 others(3): Show a0001c0001t0007 a0001c0003t0007 a0001c0003t0021 a0004c0011t0015 a0004c0014t0015 a0004c0015t0007	a0001c0001t0007g0037 a0001c0001t0007g0348 a0001c0001t0007g0352 others(6): Show a0001c0001t0007g0037 a0001c0001t0007g0348 a0001c0001t0007g0352 a0001c0001t0007g0353 a0001c0003t0007g0172 a0001c0003t0021g0200 a0004c0011t0015g0017 a0004c0014t0015g0168 a0004c0015t0007g0174	10	390	0.0256	-10	c.155 others(27): Show c.1558-995_1558-986delAAGGACCCTC		AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPH_chr7_38378704_38636373	38390961	CAGAGAGA others(3): Show CAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG02647.hp1 others(1): Show HG00642.hp2 HG01109.hp1 HG02647.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0003 a0001c0005t0004 a0002c0004t0005 a0001c0001t0003 a0001c0005t0004 a0002c0004t0005	a0001c0001t0003g0159 a0001c0005t0004g0162 a0002c0004t0005g0100 others(1): Show a0001c0001t0003g0159 a0001c0005t0004g0162 a0002c0004t0005g0100 a0002c0004t0005g0143	4	288	0.0139	-10	c.187 others(27): Show c.1878+777_1878+786delCTCTCTCTCT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38406718	CTCTCTCC others(3): Show CTCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	288	0.0035	-10	c.139 others(31): Show c.1398+11097_1398+11106delAAGGGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38406728	TTCCCTCT others(3): Show TTCCCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04228.hp1 HG02602.hp2 HG04228.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0077 a0001c0009t0006g0227 a0001c0009t0006g0077 a0001c0009t0006g0227	2	288	0.0069	-10	c.139 others(31): Show c.1398+11087_1398+11096delGAGAGAGGGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407076	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02602.hp1 HG04184.hp2 HG01928.hp1 HG02602.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0113 a0001c0002t0002g0025 a0001c0002t0002g0238 a0001c0001t0003g0113 a0001c0002t0002g0025 a0001c0002t0002g0238	3	288	0.0104	-10	c.139 others(31): Show c.1398+10739_1398+10748delCACACACACA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar

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