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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ASS1_chr9_130439961_130506274	130479281	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	374	0.0027	-12	c.689 others(27): Show c.689-422_689-411delTGTGTGTGTGTG	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130480357	GAACCTAA others(5): Show GAACCTAATGGAC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	374	0.0027	-12	c.774 others(25): Show c.774-27_774-16delAACCTAATGGAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	10/14			chr9	TogoVar
ASS1_chr9_130439961_130506274	130501278	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01168.hp2 others(25): Show HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp1 HG01993.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03688.hp1 NA18952.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp2 NA18970.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0100 others(25): Show a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0307 a0001c0001t0001g0317 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338	28	374	0.0749	-12	c.25 others(21): Show c.258_*269delGTGTGTGTGTGT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding		5		chr9	TogoVar
ASTE1_chr3_131008875_131031825	131028552	TTTTTTGT others(5): Show TTTTTTGTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00741.hp1 others(20): Show HG00597.hp1 HG00609.hp2 HG00741.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG04184.hp2 NA18960.hp2 NA18969.hp2 NA18973.hp1 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA19000.hp1 NA19009.hp1 NA19062.hp2 NA19066.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0006 a0001c0002t0002g0052 a0001c0002t0002g0053 others(1): Show a0001c0002t0002g0006 a0001c0002t0002g0052 a0001c0002t0002g0053 a0002c0003t0002g0010	23	404	0.0569	-12	c.-22 others(23): Show c.-2204_-2193delCAAAAACAAAAA	ASTE1	ENSG00000034533.12	transcript	ENST00000264992.8	protein_coding		1728		chr3	TogoVar
ASTL_chr2_96117818_96143502	96120974	TCAGGGCC others(5): Show TCAGGGCCGTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp2 others(217): Show HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0001 a0001c0008 a0001c0010 others(6): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0003c0004 a0005c0009 a0006c0011 a0007c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0003c0004t0001 a0005c0009t0001 a0005c0009t0007 a0006c0011t0001 a0007c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0004g0020 a0001c0001t0004g0094 a0001c0001t0010g0064 a0001c0008t0001g0085 a0001c0008t0001g0126 a0001c0008t0001g0127 a0001c0010t0001g0030 a0001c0012t0001g0039 a0001c0013t0001g0045 a0003c0004t0001g0009 a0003c0004t0001g0038 a0005c0009t0001g0067 a0005c0009t0007g0066 a0006c0011t0001g0077 a0007c0015t0001g0053	220	396	0.5556	-12	c.28 others(23): Show c.2864_*2875delGGGACGGCCCTG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		1843		chr2	TogoVar
ASTN1_chr1_176856067_177169712	176942824	ATATATAT others(5): Show ATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0004 a0001c0002t0014g0004	1	112	0.0089	-12	c.237 others(31): Show c.2377+1055_2377+1066delCATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177002376	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19240.hp1 HG02257.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0004g0076 a0001c0005t0004g0077	2	112	0.0179	-12	c.152 others(33): Show c.1523+12403_1523+12414delGTGTGTGTGTGT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177034244	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0037 a0001c0006t0002g0037	1	112	0.0089	-12	c.472 others(29): Show c.472-1407_472-1396delGTGTGTGTGTGT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	2/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116419185	TCACACAC others(5): Show TCACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0080 a0001c0025t0001g0080	1	102	0.0098	-12	c.66 others(23): Show c.6654_*6665delTGTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding		3926		chr9	TogoVar
ASTN2_chr9_116418112_117420057	116462788	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG01891.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0004 a0001c0001t0016 a0001c0003t0004	a0001c0001t0016g0075 a0001c0003t0004g0085 a0001c0001t0016g0075 a0001c0003t0004g0085	2	102	0.0196	-12	c.349 others(33): Show c.3498-20247_3498-20236delCACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502682	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02559.hp1 HG02615.hp1 others(4): Show HG01258.hp2 HG02559.hp1 HG02615.hp1 HG03139.hp2 HG04199.hp2 NA19012.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0020	a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0003t0007 a0006c0020t0001	a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0002t0001g0067 others(4): Show a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0002t0001g0067 a0001c0002t0003g0094 a0001c0003t0007g0071 a0001c0003t0007g0074 a0006c0020t0001g0039	7	102	0.0686	-12	c.335 others(33): Show c.3356-15194_3356-15183delCTTCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502726	GGAAGGAA others(5): Show GGAAGGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01515.hp1 others(2): Show HG00639.hp2 HG01243.hp2 HG01515.hp1 HG01934.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0008t0005	a0001c0001t0002g0051 a0001c0002t0001g0057 a0001c0002t0001g0058 others(2): Show a0001c0001t0002g0051 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0004g0091 a0001c0008t0005g0073	5	102	0.0490	-12	c.335 others(33): Show c.3356-15238_3356-15227delATTCATTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502730	GGAATGAA others(5): Show GGAATGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp1 HG03130.hp1 others(1): Show HG01109.hp2 HG03017.hp1 HG03130.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0021 a0002c0004 others(1): Show a0001c0003 a0001c0021 a0002c0004 a0004c0024	a0001c0003t0006 a0001c0021t0006 a0002c0004t0006 others(1): Show a0001c0003t0006 a0001c0021t0006 a0002c0004t0006 a0004c0024t0013	a0001c0003t0006g0026 a0001c0021t0006g0056 a0002c0004t0006g0003 others(1): Show a0001c0003t0006g0026 a0001c0021t0006g0056 a0002c0004t0006g0003 a0004c0024t0013g0101	4	102	0.0392	-12	c.335 others(33): Show c.3356-15242_3356-15231delATTCATTCATTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530094	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0074 a0001c0003t0007g0074	1	102	0.0098	-12	c.335 others(33): Show c.3356-42606_3356-42595delATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530140	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0050 a0001c0014t0017g0050	1	102	0.0098	-12	c.335 others(33): Show c.3356-42652_3356-42641delTTATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116563376	AAAAAATA others(5): Show AAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0014 a0001c0001t0003 a0001c0003t0014	a0001c0001t0003g0013 a0001c0003t0014g0083 a0001c0001t0003g0013 a0001c0003t0014g0083	2	102	0.0196	-12	c.335 others(33): Show c.3355+54936_3355+54947delATTTTTATTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565247	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG03130.hp1 others(1): Show HG01884.hp1 HG03041.hp2 HG03130.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0004 a0001c0001 a0001c0021 a0002c0004	a0001c0001t0006 a0001c0001t0011 a0001c0021t0006 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0021t0006 a0002c0004t0006	a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0021t0006g0056 others(1): Show a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0021t0006g0056 a0002c0004t0006g0003	4	102	0.0392	-12	c.335 others(33): Show c.3355+53065_3355+53076delATGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116607669	TAACACAC others(5): Show TAACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	102	0.0098	-12	c.335 others(33): Show c.3355+10643_3355+10654delTGTGTGTGTGTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116607670	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02698.hp1 HG03041.hp1 others(4): Show HG01099.hp2 HG02698.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 NA19030.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0001c0008t0005 a0002c0004t0002	a0001c0001t0001g0099 a0001c0001t0003g0090 a0001c0002t0001g0036 others(4): Show a0001c0001t0001g0099 a0001c0001t0003g0090 a0001c0002t0001g0036 a0001c0002t0003g0041 a0001c0003t0003g0030 a0001c0008t0005g0081 a0002c0004t0002g0005	7	102	0.0686	-12	c.335 others(33): Show c.3355+10642_3355+10653delGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116623147	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(11): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01169.hp1 HG01243.hp2 HG01515.hp2 HG02615.hp2 HG03209.hp1 HG03209.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0003c0016 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0005 a0001c0003t0012 a0001c0007t0001 a0001c0008t0005 a0003c0016t0004 a0005c0015t0003	a0001c0001t0001g0034 a0001c0001t0001g0095 a0001c0001t0001g0099 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0003g0063 a0001c0002t0001g0036 a0001c0002t0001g0093 a0001c0003t0005g0082 a0001c0003t0012g0001 a0001c0007t0001g0011 a0001c0008t0005g0073 a0003c0016t0004g0027 a0005c0015t0003g0019	14	102	0.1373	-12	c.307 others(31): Show c.3073-2716_3073-2705delCACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116660168	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	102	0.0098	-12	c.280 others(31): Show c.2807-8387_2807-8376delTGTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116721012	TACATACA others(5): Show TACATACACACAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	102	0.0098	-12	c.280 others(31): Show c.2806+4747_2806+4758delTTGTGTGTATGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116731178	GTAATAAT others(5): Show GTAATAATAATAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG03471.hp1 others(8): Show HG02109.hp2 HG02809.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18959.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0022	a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0003 a0001c0003t0006 a0001c0003t0010 a0001c0003t0014 a0001c0007t0001 a0001c0022t0001	a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0006g0079 others(8): Show a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0006g0079 a0001c0001t0015g0045 a0001c0002t0003g0021 a0001c0002t0003g0094 a0001c0003t0006g0017 a0001c0003t0010g0052 a0001c0003t0014g0083 a0001c0007t0001g0010 a0001c0022t0001g0020	11	102	0.1078	-12	c.252 others(31): Show c.2522-2094_2522-2083delTTATTATTATTA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	14/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116747693	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01081.hp1 others(42): Show HG00639.hp1 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03471.hp1 NA18906.hp1 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0017 a0001c0022 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0005t0005 a0001c0007t0001 a0001c0008t0005 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0013t0009 a0001c0017t0002 a0001c0022t0001 a0003c0016t0004	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(42): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0006g0079 a0001c0001t0008g0008 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0094 a0001c0002t0004g0043 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0010g0064 a0001c0003t0002g0044 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0007g0071 a0001c0003t0010g0052 a0001c0005t0005g0048 a0001c0007t0001g0010 a0001c0008t0005g0073 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0013t0009g0072 a0001c0017t0002g0089 a0001c0022t0001g0020 a0003c0016t0004g0027	45	102	0.4412	-12	c.239 others(33): Show c.2397-14182_2397-14171delTGTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116748337	GCACCTCT others(5): Show GCACCTCTTAGTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0084 a0001c0005t0005g0084	1	102	0.0098	-12	c.239 others(33): Show c.2397-14826_2397-14815delGACTAAGAGGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116783262	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp1 others(51): Show HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG02004.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18959.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0021 a0002c0004 a0003c0016 a0003c0019 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0008t0005 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0012t0001 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0003c0016t0004 a0003c0019t0002 a0006c0020t0001	a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0001t0002g0018 others(51): Show a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0003g0013 a0001c0001t0005g0035 a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0001t0015g0045 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0094 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0003t0001g0055 a0001c0003t0004g0085 a0001c0003t0006g0026 a0001c0003t0007g0074 a0001c0003t0010g0052 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0006t0002g0012 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0021t0006g0056 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0003c0016t0004g0027 a0003c0019t0002g0025 a0006c0020t0001g0039	54	102	0.5294	-12	c.239 others(33): Show c.2396+22358_2396+22369delGGAAGGAAGGAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116789920	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0056 a0001c0021t0006g0056	1	102	0.0098	-12	c.239 others(33): Show c.2396+15700_2396+15711delAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790966	GGAAAGAA others(5): Show GGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18959.hp2 NA21309.hp1 HG02809.hp2 NA18959.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0003 a0002c0004t0006 a0001c0001t0001 a0001c0002t0003 a0002c0004t0006	a0001c0001t0001g0015 a0001c0002t0003g0021 a0002c0004t0006g0003 a0001c0001t0001g0015 a0001c0002t0003g0021 a0002c0004t0006g0003	3	102	0.0294	-12	c.239 others(33): Show c.2396+14654_2396+14665delTTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116839875	ATTATTAT others(5): Show ATTATTATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG03540.hp1 others(1): Show HG01243.hp2 HG01891.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0002 a0001c0003t0006 a0001c0003t0014 others(1): Show a0001c0002t0002 a0001c0003t0006 a0001c0003t0014 a0001c0008t0005	a0001c0002t0002g0046 a0001c0003t0006g0017 a0001c0003t0014g0083 others(1): Show a0001c0002t0002g0046 a0001c0003t0006g0017 a0001c0003t0014g0083 a0001c0008t0005g0073	4	102	0.0392	-12	c.204 others(33): Show c.2041-19104_2041-19093delAAAAAATAATAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116841370	AGAGAGGG others(5): Show AGAGAGGGAGAGG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19066.hp2 NA19011.hp1 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0002 a0001c0003t0010 a0001c0009t0004 a0001c0002t0002 a0001c0003t0010 a0001c0009t0004	a0001c0002t0002g0059 a0001c0003t0010g0052 a0001c0009t0004g0032 a0001c0002t0002g0059 a0001c0003t0010g0052 a0001c0009t0004g0032	3	102	0.0294	-12	c.204 others(33): Show c.2041-20599_2041-20588delCCTCTCCCTCTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116851471	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02615.hp1 others(3): Show HG00735.hp2 HG01884.hp2 HG02615.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0007 a0001c0025t0001	a0001c0001t0001g0037 a0001c0001t0002g0018 a0001c0001t0002g0040 others(3): Show a0001c0001t0001g0037 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0002t0001g0033 a0001c0003t0007g0071 a0001c0025t0001g0080	6	102	0.0588	-12	c.204 others(33): Show c.2040+12100_2040+12111delAGATAGATAGAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116861214	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01099.hp2 others(16): Show HG00099.hp1 HG00099.hp2 HG01099.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG02451.hp1 HG02572.hp1 HG02698.hp2 HG03471.hp2 NA19010.hp2 NA19012.hp1 NA19065.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0013 a0002c0004 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0001c0008t0005 a0001c0009t0008 a0001c0013t0009 a0002c0004t0001 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0003g0063 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0001g0093 a0001c0002t0002g0046 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0003t0003g0030 a0001c0008t0005g0073 a0001c0009t0008g0088 a0001c0013t0009g0072 a0002c0004t0001g0004 a0005c0015t0003g0019 a0007c0018t0003g0031	19	102	0.1863	-12	c.204 others(31): Show c.2040+2357_2040+2368delGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116865423	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG03041.hp1 others(1): Show HG00639.hp1 HG02615.hp2 HG03041.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0015 a0001c0003t0005 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0003t0005 a0002c0004t0002	a0001c0001t0002g0051 a0001c0001t0015g0045 a0001c0003t0005g0082 others(1): Show a0001c0001t0002g0051 a0001c0001t0015g0045 a0001c0003t0005g0082 a0002c0004t0002g0005	4	102	0.0392	-12	c.189 others(31): Show c.1890-1702_1890-1691delTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116879344	GAGACAGA others(5): Show GAGACAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(30): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG04199.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19065.hp1 NA19066.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0013 a0001c0021 a0001c0022 a0001c0023 a0002c0004 a0005c0015 a0006c0020 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0005t0005 a0001c0009t0008 a0001c0013t0009 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0002c0004t0002 a0002c0004t0005 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0002g0051 others(30): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0002g0051 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0001t0015g0045 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0002t0008g0024 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0005g0082 a0001c0003t0007g0071 a0001c0003t0010g0052 a0001c0003t0012g0001 a0001c0005t0005g0048 a0001c0009t0008g0088 a0001c0013t0009g0072 a0001c0021t0006g0056 a0001c0022t0001g0020 a0001c0023t0002g0069 a0002c0004t0002g0005 a0002c0004t0005g0006 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	33	102	0.3235	-12	c.189 others(33): Show c.1890-15623_1890-15612delGTCTGTCTGTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116889720	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01256.hp2 HG01258.hp1 others(23): Show HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01934.hp1 HG02004.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03540.hp2 HG04199.hp1 NA19012.hp2 NA19030.hp2 NA19065.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0002c0004 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0005t0005 a0001c0006t0002 a0001c0010t0004 a0001c0011t0004 a0001c0013t0009 a0002c0004t0005 a0003c0019t0002	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0100 others(23): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0005g0096 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0002t0001g0033 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0003g0022 a0001c0002t0003g0094 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0003t0001g0038 a0001c0003t0002g0044 a0001c0003t0012g0001 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0006t0002g0012 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0013t0009g0072 a0002c0004t0005g0006 a0003c0019t0002g0025	26	102	0.2549	-12	c.189 others(33): Show c.1890-25999_1890-25988delGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116916833	AAAAAACA others(5): Show AAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01256.hp1 others(10): Show HG01081.hp2 HG01099.hp1 HG01256.hp1 HG01261.hp1 HG02451.hp2 HG02559.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp1 HG03017.hp1 HG03139.hp2 NA19030.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0017 a0004c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0003t0004 a0001c0003t0007 a0001c0005t0005 a0001c0017t0002 a0004c0024t0013	a0001c0001t0001g0054 a0001c0001t0004g0060 a0001c0001t0005g0077 others(10): Show a0001c0001t0001g0054 a0001c0001t0004g0060 a0001c0001t0005g0077 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0065 a0001c0002t0001g0033 a0001c0003t0004g0085 a0001c0003t0007g0074 a0001c0005t0005g0076 a0001c0017t0002g0089 a0004c0024t0013g0101	13	102	0.1275	-12	c.189 others(33): Show c.1890-53112_1890-53101delGTTTTTGTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116999548	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02109.hp1 others(3): Show HG01109.hp2 HG01884.hp2 HG02109.hp1 HG03209.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0025 a0001c0003 a0001c0012 a0001c0025	a0001c0003t0001 a0001c0003t0006 a0001c0003t0012 others(2): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0012 a0001c0012t0001 a0001c0025t0001	a0001c0003t0001g0038 a0001c0003t0006g0017 a0001c0003t0006g0026 others(3): Show a0001c0003t0001g0038 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0012g0001 a0001c0012t0001g0098 a0001c0025t0001g0080	6	102	0.0588	-12	c.159 others(31): Show c.1591+8532_1591+8543delAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016612	ATATCTAT others(5): Show ATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0020 a0001c0022t0001g0020	1	102	0.0098	-12	c.142 others(31): Show c.1424-8365_1424-8354delGATAGATAGATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016616	CTATCTAT others(5): Show CTATCTATCTATA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01934.hp2 HG02896.hp1 others(3): Show HG01258.hp2 HG01934.hp2 HG02896.hp1 HG04199.hp1 NA18959.hp1 NA19010.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0010 a0003c0019 others(1): Show a0001c0002 a0001c0010 a0003c0019 a0005c0015	a0001c0002t0001 a0001c0002t0004 a0001c0010t0001 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0010t0001 a0003c0019t0002 a0005c0015t0003	a0001c0002t0001g0033 a0001c0002t0001g0067 a0001c0002t0004g0029 others(3): Show a0001c0002t0001g0033 a0001c0002t0001g0067 a0001c0002t0004g0029 a0001c0010t0001g0102 a0003c0019t0002g0025 a0005c0015t0003g0019	6	102	0.0588	-12	c.142 others(31): Show c.1424-8369_1424-8358delTATAGATAGATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060401	AGAAAGAA others(5): Show AGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0010 a0001c0007t0001g0010	1	102	0.0098	-12	c.127 others(33): Show c.1277-20448_1277-20437delCTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117061139	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG00099.hp2 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0061 a0001c0002t0004g0062 a0001c0002t0002g0061 a0001c0002t0004g0062	2	102	0.0196	-12	c.127 others(33): Show c.1277-21186_1277-21175delTAAATAAATAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117069338	CTGAGTTC others(5): Show CTGAGTTCTAGTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	102	0.0098	-12	c.127 others(33): Show c.1276+26694_1276+26705delAACTAGAACTCA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	102	0.0098	-12	c.116 others(33): Show c.1168+21296_1168+21307delTATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117128371	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01515.hp2 HG02559.hp1 others(2): Show HG01081.hp1 HG01515.hp2 HG02559.hp1 HG02896.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0003c0016	a0001c0001t0007 a0001c0001t0009 a0001c0005t0005 others(2): Show a0001c0001t0007 a0001c0001t0009 a0001c0005t0005 a0001c0006t0002 a0003c0016t0004	a0001c0001t0007g0087 a0001c0001t0009g0086 a0001c0005t0005g0048 others(2): Show a0001c0001t0007g0087 a0001c0001t0009g0086 a0001c0005t0005g0048 a0001c0006t0002g0012 a0003c0016t0004g0027	5	102	0.0490	-12	c.116 others(33): Show c.1168+12943_1168+12954delTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117134266	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0056 a0001c0021t0006g0056	1	102	0.0098	-12	c.116 others(31): Show c.1168+7048_1168+7059delTATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117134285	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	102	0.0098	-12	c.116 others(31): Show c.1168+7029_1168+7040delGTATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117134289	TATATATA others(5): Show TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	102	0.0098	-12	c.116 others(31): Show c.1168+7025_1168+7036delGTGTGTATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117143791	GGAAAGAG others(5): Show GGAAAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG03130.hp1 HG01109.hp1 HG01891.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0021 a0001c0001 a0001c0003 a0001c0021	a0001c0001t0016 a0001c0003t0001 a0001c0021t0006 a0001c0001t0016 a0001c0003t0001 a0001c0021t0006	a0001c0001t0016g0075 a0001c0003t0001g0055 a0001c0021t0006g0056 a0001c0001t0016g0075 a0001c0003t0001g0055 a0001c0021t0006g0056	3	102	0.0294	-12	c.101 others(31): Show c.1016-2325_1016-2314delTCTCTCTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117144660	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0004 a0003c0016t0004	a0003c0016t0004g0027 a0003c0016t0004g0027	1	102	0.0098	-12	c.101 others(31): Show c.1016-3194_1016-3183delAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117174123	CTAGATAG others(5): Show CTAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	102	0.0098	-12	c.101 others(33): Show c.1016-32657_1016-32646delTCTATCTATCTA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)