JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTMAP_chr19_40735861_40755477	40750240	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18944.hp1 NA19083.hp2 NA19089.hp2 NA18944.hp1 NA19083.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0048 a0002c0002t0018g0145 a0002c0002t0018g0048 a0002c0002t0018g0145	3	426	0.0070	0	c.-43 others(4): Show c.-437A>G	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	437		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750264	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18963.hp1 NA19060.hp1 NA18963.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0068 a0001c0003t0022g0069 a0001c0003t0022g0068 a0001c0003t0022g0069	2	426	0.0047	0	c.-46 others(4): Show c.-461C>T	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	461		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750267	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0076 a0002c0002t0032g0076	1	426	0.0024	0	c.-46 others(4): Show c.-464G>C	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	464		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750305	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01109.hp1 others(14): Show HG00642.hp2 HG00738.hp2 HG01109.hp1 HG01891.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02970.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0014 a0001c0001t0007g0033 others(3): Show a0001c0001t0007g0009 a0001c0001t0007g0014 a0001c0001t0007g0033 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075	17	426	0.0399	0	c.-50 others(4): Show c.-502C>A	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	502		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750351	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18960.hp2 NA18978.hp2 others(2): Show NA18952.hp1 NA18960.hp2 NA18978.hp2 NA18997.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0146 a0001c0001t0013g0147 others(1): Show a0001c0001t0013g0049 a0001c0001t0013g0146 a0001c0001t0013g0147 a0001c0001t0013g0148	5	426	0.0117	0	c.-54 others(4): Show c.-548C>T	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	548		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750417	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0149 a0001c0001t0044g0149	1	426	0.0024	0	c.-61 others(4): Show c.-614C>T	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	614		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750443	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp2 NA18986.hp1 NA18989.hp1 others(2): Show HG00621.hp2 NA18986.hp1 NA18989.hp1 NA19011.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0045 a0001c0001t0014 a0001c0001t0045	a0001c0001t0014g0026 a0001c0001t0014g0150 a0001c0001t0045g0151 a0001c0001t0014g0026 a0001c0001t0014g0150 a0001c0001t0045g0151	5	426	0.0117	0	c.-64 others(4): Show c.-640C>T	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	640		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750456	GA GA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00609.hp1 HG02559.hp2 HG04204.hp1 others(8): Show HG00609.hp1 HG02559.hp2 HG04204.hp1 NA18947.hp2 NA18969.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19011.hp2 NA19058.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0023 a0001c0003t0010 a0001c0003t0023	a0001c0003t0010g0013 a0001c0003t0010g0070 a0001c0003t0010g0071 others(2): Show a0001c0003t0010g0013 a0001c0003t0010g0070 a0001c0003t0010g0071 a0001c0003t0010g0072 a0001c0003t0023g0032	11	426	0.0258	-1	c.-65 others(5): Show c.-654delT	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	654		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40750470	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(74): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01175.hp1 HG01192.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0003c0008	a0001c0001t0015 a0001c0003t0003 a0001c0003t0019 others(10): Show a0001c0001t0015 a0001c0003t0003 a0001c0003t0019 a0001c0003t0020 a0001c0003t0022 a0001c0003t0030 a0001c0004t0012 a0001c0004t0016 a0001c0004t0021 a0001c0004t0031 a0001c0006t0012 a0001c0011t0016 a0003c0008t0021	a0001c0001t0015g0061 a0001c0001t0015g0062 a0001c0001t0015g0063 others(25): Show a0001c0001t0015g0061 a0001c0001t0015g0062 a0001c0001t0015g0063 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0027 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0055 a0001c0003t0019g0028 a0001c0003t0020g0052 a0001c0003t0020g0053 a0001c0003t0022g0068 a0001c0003t0022g0069 a0001c0003t0030g0054 a0001c0004t0012g0017 a0001c0004t0012g0057 a0001c0004t0012g0058 a0001c0004t0016g0059 a0001c0004t0016g0066 a0001c0004t0021g0060 a0001c0004t0031g0065 a0001c0006t0012g0064 a0001c0011t0016g0067 a0003c0008t0021g0056	77	426	0.1808	0	c.-66 others(4): Show c.-667G>A	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	667		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68979141	A A	AGGGCT AGGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(125): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19083.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0017 a0002c0006 a0003c0007 a0006c0014	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(8): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0003t0007 a0001c0004t0004 a0001c0005t0002 a0001c0010t0002 a0001c0017t0004 a0002c0006t0004 a0003c0007t0002 a0006c0014t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 others(123): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0002t0002g0088 a0001c0002t0002g0122 a0001c0002t0004g0008 a0001c0002t0004g0014 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0063 a0001c0002t0004g0065 a0001c0002t0004g0069 a0001c0002t0004g0085 a0001c0002t0004g0089 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0108 a0001c0002t0004g0121 a0001c0002t0004g0124 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0003t0007g0104 a0001c0004t0004g0110 a0001c0005t0002g0123 a0001c0010t0002g0060 a0001c0017t0004g0044 a0002c0006t0004g0038 a0002c0006t0004g0111 a0003c0007t0002g0114 a0006c0014t0002g0117	128	284	0.4507	5	c.-90 others(12): Show c.-90_-86dupAGCCC	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/22	86		chr14	TogoVar
ACTN1_chr14_68869128_68984302	68979150	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	284	0.0035	0	c.-94 others(3): Show c.-94G>A	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/22	94		chr14	TogoVar
ACTN1_chr14_68869128_68984302	68979287	A A	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	284	0.0035	0	c.-23 others(4): Show c.-231T>A	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/22	231		chr14	TogoVar
ACTN2_chr1_236681499_236769631	236686571	G G	GCGCCCGC GCGCCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01168.hp2 others(21): Show HG00639.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01975.hp1 HG01978.hp2 HG02148.hp1 HG02273.hp1 HG02886.hp2 HG02895.hp1 HG03490.hp2 HG03516.hp1 HG03704.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18960.hp1 NA18964.hp2 NA18969.hp1 NA18995.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0015 a0001c0018 a0001c0025 a0003c0012 a0004c0032	a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 others(11): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0003t0006 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0006t0008 a0001c0007t0015 a0001c0015t0016 a0001c0018t0006 a0001c0025t0006 a0003c0012t0008 a0004c0032t0017	a0001c0001t0006g0135 a0001c0001t0015g0116 a0001c0001t0017g0097 others(21): Show a0001c0001t0006g0135 a0001c0001t0015g0116 a0001c0001t0017g0097 a0001c0003t0006g0124 a0001c0003t0006g0126 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0136 a0001c0003t0020g0122 a0001c0003t0021g0125 a0001c0003t0022g0093 a0001c0006t0008g0127 a0001c0006t0008g0128 a0001c0006t0008g0344 a0001c0007t0015g0096 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0018t0006g0123 a0001c0025t0006g0121 a0003c0012t0008g0092 a0003c0012t0008g0098 a0004c0032t0017g0094	24	344	0.0698	7	c.-84 others(14): Show c.-84_-78dupCGCCGCC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/21	77	INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236686631	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03710.hp1 HG03239.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0019g0250 a0001c0001t0019g0252	2	344	0.0058	0	c.-43 others(3): Show c.-43C>G	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/21	43		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236686652	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01361.hp2 HG03490.hp1 HG03492.hp2 others(1): Show HG01361.hp2 HG03490.hp1 HG03492.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0045 others(1): Show a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046	4	344	0.0116	0	c.-22 others(3): Show c.-22C>T	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/21	22		chr1	TogoVar
ACTN4_chr19_38642649_38736589	38647654	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0052 a0004c0019t0052	a0004c0019t0052g0031 a0004c0019t0052g0031	1	314	0.0032	0	c.-92 others(3): Show c.-92A>G	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/21	92		chr19	TogoVar
ACTR10_chr14_58195149_58240636	58200164	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(106): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0187 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0006g0007 a0001c0001t0006g0019 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0111 a0001c0001t0007g0002 a0001c0001t0007g0050 a0001c0001t0007g0053 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0001t0007g0085 a0001c0001t0007g0123 a0001c0001t0007g0188 a0001c0001t0007g0269 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0065 a0001c0001t0008g0120 a0001c0001t0017g0020 a0001c0001t0018g0019 a0001c0001t0018g0185 a0001c0001t0019g0037 a0001c0001t0019g0070 a0001c0001t0025g0008 a0001c0001t0026g0184 a0001c0001t0027g0272 a0001c0001t0028g0066 a0002c0004t0001g0094 a0003c0003t0001g0075	127	322	0.3944	0	c.-54 others(3): Show c.-54A>G	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	1/13	54		chr14	TogoVar
ACTR10_chr14_58195149_58240636	58200206	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0119 a0001c0001t0020g0119	1	322	0.0031	0	c.-12 others(3): Show c.-12T>C	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	1/13	12		chr14	TogoVar
ACTR1A_chr10_102474229_102507712	102502697	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	388	0.0026	0	c.-50 others(3): Show c.-50G>A	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/11	50		chr10	TogoVar
ACTR1B_chr2_97650939_97669044	97664025	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02922.hp1 NA19030.hp1 HG02055.hp2 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0025 a0001c0001t0008g0017 a0001c0001t0008g0025	3	398	0.0075	0	c.-13 others(4): Show c.-135G>A	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	1/11	135		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97664034	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0024 a0002c0003t0010g0024	2	398	0.0050	0	c.-14 others(4): Show c.-144G>T	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	1/11	144		chr2	TogoVar
ACTR2_chr2_65222831_65276253	65227882	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0009	1	326	0.0031	0	c.-28 others(3): Show c.-28G>C	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	1/9	28		chr2	TogoVar
ACTR2_chr2_65222831_65276253	65227889	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0101 a0001c0001t0032g0101	1	326	0.0031	0	c.-21 others(3): Show c.-21C>T	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	1/9	21		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152759809	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0307 a0001c0001t0008g0307	1	310	0.0032	0	c.-74 others(3): Show c.-74T>C	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/12	74		chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152759824	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(121): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0003t0003	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(120): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0279 a0001c0001t0003g0286 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0176 a0001c0001t0007g0041 a0001c0001t0007g0059 a0001c0001t0011g0164 a0001c0003t0003g0167	124	310	0.4000	0	c.-59 others(3): Show c.-59C>T	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/12	59		chr7	TogoVar
ACTR3_chr2_113885089_113967596	113890251	G G	GGCAGCA GGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18981.hp1 NA18992.hp1 others(2): Show NA18945.hp2 NA18981.hp1 NA18992.hp1 NA19005.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0291 a0001c0001t0011g0306 others(1): Show a0001c0001t0011g0025 a0001c0001t0011g0291 a0001c0001t0011g0306 a0001c0001t0011g0312	5	390	0.0128	6	c.-18 others(13): Show c.-18_-13dupCAGCAG	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	1/12	12	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR6_chr12_100195815_100229424	100200827	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03225.hp2 HG02615.hp1 HG02622.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043	3	242	0.0124	0	c.-25 others(3): Show c.-25C>A	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	1/11	25		chr12	TogoVar
ACTR8_chr3_53862066_53887152	53882103	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(176): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0004c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0002t0010 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0007g0044 a0001c0001t0007g0054 a0001c0001t0011g0039 a0001c0001t0012g0043 a0001c0002t0010g0036 a0001c0004t0001g0007 a0001c0006t0001g0037 a0001c0008t0001g0062 a0004c0007t0001g0057	179	432	0.4144	0	c.-2T others(2): Show c.-2T>C	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	1/13	2		chr3	TogoVar
ACTR8_chr3_53862066_53887152	53882127	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	2	432	0.0046	0	c.-26 others(3): Show c.-26G>C	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	1/13	26		chr3	TogoVar
ACTRT1_chrX_128045962_128057403	128052211	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	285	0.0035	0	c.-5C others(2): Show c.-5C>A	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	5		chrX	TogoVar
ACTRT2_chr1_3016467_3027903	3021494	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	366	0.0027	0	c.-19 others(4): Show c.-193C>T	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	193		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3021632	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	366	0.0027	0	c.-55 others(3): Show c.-55G>A	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	55		chr1	TogoVar
ACVR1B_chr12_51946699_52002078	51951713	TGCG TGCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(270): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0001c0002t0019 a0001c0003t0002 a0001c0004t0013 a0001c0005t0020 a0001c0007t0002 a0002c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(239): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0151 a0001c0001t0002g0184 a0001c0001t0002g0259 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103 a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0008g0001 a0001c0001t0008g0207 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0016 a0001c0001t0009g0158 a0001c0001t0009g0159 a0001c0001t0009g0160 a0001c0001t0009g0161 a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073 a0001c0001t0012g0150 a0001c0001t0012g0153 a0001c0001t0012g0162 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087 a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 a0001c0001t0017g0027 a0001c0001t0018g0113 a0001c0001t0018g0114 a0001c0001t0019g0075 a0001c0001t0023g0242 a0001c0001t0024g0217 a0001c0001t0025g0277 a0001c0001t0026g0278 a0001c0001t0027g0269 a0001c0001t0028g0209 a0001c0001t0029g0271 a0001c0001t0030g0135 a0001c0001t0031g0044 a0001c0002t0002g0004 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0019g0004 a0001c0003t0002g0012 a0001c0003t0002g0110 a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0005t0020g0280 a0001c0005t0020g0281 a0001c0007t0002g0079 a0002c0008t0001g0196	273	324	0.8426	-3	c.-11 others(9): Show c.-11_-9delCGG	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	1/9	9	INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51951736	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0287 a0001c0001t0021g0287	1	324	0.0031	0	c.-8T others(2): Show c.-8T>C	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	1/9	8		chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157628780	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0017g0214 a0002c0003t0017g0215	2	216	0.0093	0	c.-13 others(4): Show c.-136C>T	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/9	136		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157818390	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0143 a0001c0003t0019g0143	1	174	0.0058	0	c.-13 others(3): Show c.-13A>G	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/11	18897		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157818430	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02257.hp2 others(16): Show HG01261.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0003 a0001c0002t0015 a0001c0002t0020 others(4): Show a0001c0002t0003 a0001c0002t0015 a0001c0002t0020 a0001c0003t0003 a0001c0004t0009 a0001c0004t0021 a0001c0005t0003	a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 others(16): Show a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0015g0096 a0001c0002t0020g0163 a0001c0003t0003g0144 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0003g0138	19	174	0.1092	0	c.-53 others(3): Show c.-53C>T	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/11	18937		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157818468	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0087 a0001c0001t0014g0087	1	174	0.0058	0	c.-91 others(3): Show c.-91C>A	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/11	18975		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157875868	C C	CGCGGCGC others(3): Show CGCGGCGCGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18956.hp2 NA18960.hp2 NA18956.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0012g0011 a0001c0001t0012g0012	2	174	0.0115	10	c.-26 others(19): Show c.-265_-256dupCCCGCGCCGC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/11	76376		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157876031	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0002t0011g0009 a0001c0002t0011g0010	2	174	0.0115	0	c.-41 others(4): Show c.-418C>A	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/11	76538		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157876051	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG02055.hp1 HG02698.hp1 HG03654.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0010 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0001t0010 a0001c0002t0005 a0001c0002t0010 a0001c0003t0005 a0001c0005t0005	a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0002 others(5): Show a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0005g0006 a0001c0002t0010g0008 a0001c0003t0005g0005 a0001c0003t0005g0007 a0001c0005t0005g0004	8	174	0.0460	0	c.-43 others(4): Show c.-438C>A	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/11	76558		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157876303	T T	TGCGGCG TGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG02647.hp1 others(9): Show HG00735.hp1 HG02004.hp1 HG02647.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03927.hp2 NA18906.hp1 NA18978.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 others(4): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 a0001c0002t0020 a0001c0003t0004 a0001c0004t0021 a0001c0005t0004	a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(9): Show a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0020g0163 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0004t0021g0171 a0001c0005t0004g0174	12	174	0.0690	6	c.-69 others(15): Show c.-696_-691dupCGCCGC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/11	76811		chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38454067	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03098.hp2 NA20129.hp2 HG03098.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0219 a0001c0001t0220 a0001c0001t0219 a0001c0001t0220	a0001c0001t0219g0009 a0001c0001t0220g0009 a0001c0001t0219g0009 a0001c0001t0220g0009	2	410	0.0049	0	c.-25 others(4): Show c.-256C>T	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/11	256		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38454076	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01928.hp1 HG02647.hp2 NA18991.hp2 HG01928.hp1 HG02647.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068	a0001c0001t0066g0075 a0001c0001t0067g0056 a0001c0001t0068g0053 a0001c0001t0066g0075 a0001c0001t0067g0056 a0001c0001t0068g0053	3	410	0.0073	0	c.-24 others(4): Show c.-247C>A	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/11	247		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38454152	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0218 a0001c0002t0218	a0001c0002t0218g0001 a0001c0002t0218g0001	1	410	0.0024	0	c.-17 others(4): Show c.-171C>T	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/11	171		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38454158	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0131 a0001c0001t0069g0131	1	410	0.0024	0	c.-16 others(4): Show c.-165G>A	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/11	165		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38454302	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0217 a0001c0002t0217	a0001c0002t0217g0001 a0001c0002t0217g0001	1	410	0.0024	0	c.-21 others(3): Show c.-21C>T	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/11	21		chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51907506	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0043 a0001c0001t0033g0043	1	438	0.0023	0	c.-19 others(4): Show c.-195C>T	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	1/10	4969		chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51907599	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02886.hp2 NA20129.hp1 HG02809.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0019 a0001c0001t0032	a0001c0001t0019g0008 a0001c0001t0032g0030 a0001c0001t0019g0008 a0001c0001t0032g0030	3	438	0.0069	0	c.-10 others(4): Show c.-102C>G	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	1/10	4876		chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51907655	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02647.hp1 NA18906.hp2 HG01109.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	3	438	0.0069	0	c.-46 others(3): Show c.-46C>G	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	1/10	4820		chr12	TogoVar

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