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
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02976.hp1 HG00544.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0002 a0003c0004t0001 a0001c0003t0002 a0003c0004t0001	a0001c0003t0002g0091 a0003c0004t0001g0052 a0001c0003t0002g0091 a0003c0004t0001g0052	2	398	0.0050	13	c.52 others(24): Show c.5235_*5236insAAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18990.hp1 NA18955.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0232 a0001c0001t0001g0204 a0001c0001t0001g0232	2	271	0.0074	13	c.313 others(30): Show c.3132+638_3132+639insTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG01891.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0266 a0001c0001t0002g0117 a0001c0001t0002g0266	2	271	0.0074	13	c.305 others(30): Show c.3058-214_3058-202dupAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	336	0.0030	13	c.-50 others(24): Show c.-5095_-5094insAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5730561	A A	AAAATAAA others(6): Show AAAATAAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0151 a0001c0045t0001g0151	1	336	0.0030	13	c.276 others(28): Show c.276+624_276+625insATAAATAAATAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5731560	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 homoSapiens_chm13v2.hp1 HG04184.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0092 a0004c0003t0001g0319 a0002c0002t0001g0092 a0004c0003t0001g0319	2	336	0.0060	13	c.276 others(30): Show c.276+1630_276+1642dupTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5739842	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00642.hp1 others(107): Show HG00323.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp1 NA18960.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18999.hp2 NA19043.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0013 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0031	a0001c0001 a0001c0034 a0001c0040 others(20): Show a0001c0001 a0001c0034 a0001c0040 a0002c0002 a0002c0019 a0003c0004 a0003c0041 a0004c0003 a0004c0042 a0006c0007 a0007c0010 a0008c0009 a0010c0011 a0011c0008 a0013c0031 a0016c0013 a0017c0014 a0018c0020 a0019c0022 a0021c0023 a0022c0025 a0023c0026 a0031c0028	a0001c0001t0001 a0001c0001t0002 a0001c0034t0001 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0034t0001 a0001c0040t0001 a0002c0002t0001 a0002c0002t0003 a0002c0019t0001 a0003c0004t0001 a0003c0004t0003 a0003c0041t0001 a0004c0003t0001 a0004c0003t0003 a0004c0042t0001 a0006c0007t0001 a0006c0007t0002 a0007c0010t0001 a0008c0009t0001 a0010c0011t0001 a0011c0008t0001 a0013c0031t0001 a0016c0013t0001 a0017c0014t0002 a0018c0020t0001 a0019c0022t0001 a0021c0023t0001 a0022c0025t0001 a0023c0026t0002 a0031c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0229 a0001c0001t0002g0024 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0147 a0001c0034t0001g0023 a0001c0040t0001g0331 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0085 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0127 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0081 a0002c0002t0003g0138 a0002c0019t0001g0330 a0002c0019t0001g0332 a0003c0004t0001g0022 a0003c0004t0001g0040 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0001g0076 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0098 a0003c0004t0001g0129 a0003c0004t0001g0303 a0003c0004t0001g0314 a0003c0004t0001g0336 a0003c0004t0003g0083 a0003c0041t0001g0329 a0004c0003t0001g0079 a0004c0003t0001g0080 a0004c0003t0001g0087 a0004c0003t0001g0132 a0004c0003t0001g0319 a0004c0003t0003g0047 a0004c0003t0003g0053 a0004c0003t0003g0071 a0004c0003t0003g0075 a0004c0003t0003g0131 a0004c0042t0001g0316 a0006c0007t0001g0017 a0006c0007t0001g0025 a0006c0007t0001g0034 a0006c0007t0002g0030 a0006c0007t0002g0031 a0007c0010t0001g0026 a0007c0010t0001g0027 a0007c0010t0001g0029 a0008c0009t0001g0008 a0008c0009t0001g0016 a0008c0009t0001g0032 a0010c0011t0001g0002 a0010c0011t0001g0003 a0011c0008t0001g0010 a0011c0008t0001g0012 a0011c0008t0001g0014 a0013c0031t0001g0036 a0016c0013t0001g0009 a0016c0013t0001g0015 a0017c0014t0002g0011 a0017c0014t0002g0013 a0018c0020t0001g0018 a0019c0022t0001g0028 a0021c0023t0001g0052 a0022c0025t0001g0146 a0023c0026t0002g0335 a0031c0028t0001g0130	110	336	0.3274	13	c.573 others(28): Show c.573+414_573+415insAGAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp2 HG01975.hp1 others(11): Show HG00741.hp2 HG01928.hp2 HG01975.hp1 HG02523.hp1 HG02559.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG06807.hp2 NA18943.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0031 a0034	a0001c0001 a0002c0002 a0002c0019 others(5): Show a0001c0001 a0002c0002 a0002c0019 a0003c0004 a0004c0003 a0008c0009 a0031c0028 a0034c0046	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0019t0001 a0003c0004t0001 a0004c0003t0003 a0008c0009t0001 a0031c0028t0001 a0034c0046t0001	a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0093 others(11): Show a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0093 a0002c0002t0001g0049 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0003g0081 a0002c0019t0001g0330 a0003c0004t0001g0129 a0003c0004t0001g0303 a0004c0003t0003g0131 a0008c0009t0001g0008 a0031c0028t0001g0130 a0034c0046t0001g0005	14	336	0.0417	13	c.573 others(30): Show c.573+2347_573+2359dupGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02615.hp2 HG02717.hp2 others(2): Show HG00408.hp1 HG02615.hp2 HG02717.hp2 HG02895.hp1 NA18964.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0004 a0003c0043 others(1): Show a0002c0002 a0003c0004 a0003c0043 a0008c0009	a0002c0002t0001 a0003c0004t0001 a0003c0043t0001 others(1): Show a0002c0002t0001 a0003c0004t0001 a0003c0043t0001 a0008c0009t0001	a0002c0002t0001g0234 a0002c0002t0001g0261 a0003c0004t0001g0222 others(2): Show a0002c0002t0001g0234 a0002c0002t0001g0261 a0003c0004t0001g0222 a0003c0043t0001g0233 a0008c0009t0001g0032	5	336	0.0149	13	c.142 others(32): Show c.1428-1156_1428-1155insATATATATATATT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01258.hp1 HG02257.hp1 others(5): Show HG01069.hp1 HG01258.hp1 HG02257.hp1 HG03098.hp1 NA18942.hp1 NA18990.hp1 NA18998.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0008c0009t0001	a0001c0001t0001g0001 a0002c0002t0001g0180 a0002c0002t0001g0251 others(5): Show a0001c0001t0001g0001 a0002c0002t0001g0180 a0002c0002t0001g0251 a0002c0002t0001g0256 a0002c0002t0001g0284 a0002c0002t0001g0292 a0003c0004t0001g0246 a0008c0009t0001g0008	8	336	0.0238	13	c.142 others(32): Show c.1428-1156_1428-1155insATATATATATTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01169.hp2 others(8): Show HG01074.hp2 HG01099.hp2 HG01169.hp2 HG01978.hp1 HG02083.hp2 HG02273.hp1 HG02615.hp1 NA18966.hp2 NA18995.hp1 NA19089.hp2 NA19091.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0002 a0003c0004 a0003c0005 others(2): Show a0002c0002 a0003c0004 a0003c0005 a0004c0003 a0008c0009	a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 others(2): Show a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0004c0003t0001 a0008c0009t0001	a0002c0002t0001g0044 a0002c0002t0001g0115 a0002c0002t0001g0127 others(8): Show a0002c0002t0001g0044 a0002c0002t0001g0115 a0002c0002t0001g0127 a0002c0002t0001g0299 a0002c0002t0001g0327 a0003c0004t0001g0094 a0003c0004t0001g0096 a0003c0004t0001g0290 a0003c0005t0001g0185 a0004c0003t0001g0240 a0008c0009t0001g0016	11	336	0.0327	13	c.142 others(32): Show c.1428-1156_1428-1155insATATATATTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG02965.hp1 others(1): Show HG00140.hp1 HG01255.hp1 HG02965.hp1 HG03139.hp2	a0001 a0003 a0025 a0001 a0003 a0025	a0001c0001 a0003c0004 a0025c0032 a0001c0001 a0003c0004 a0025c0032	a0001c0001t0001 a0003c0004t0001 a0025c0032t0001 a0001c0001t0001 a0003c0004t0001 a0025c0032t0001	a0001c0001t0001g0154 a0001c0001t0001g0231 a0003c0004t0001g0281 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0231 a0003c0004t0001g0281 a0025c0032t0001g0334	4	336	0.0119	13	c.142 others(32): Show c.1428-1156_1428-1155insATATATTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG03516.hp2 HG02572.hp2 HG03225.hp1 HG03516.hp2	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0003c0004 a0023c0026 a0001c0001 a0003c0004 a0023c0026	a0001c0001t0001 a0003c0004t0001 a0023c0026t0002 a0001c0001t0001 a0003c0004t0001 a0023c0026t0002	a0001c0001t0001g0318 a0003c0004t0001g0230 a0023c0026t0002g0335 a0001c0001t0001g0318 a0003c0004t0001g0230 a0023c0026t0002g0335	3	336	0.0089	13	c.142 others(32): Show c.1428-1156_1428-1155insATATTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0310 a0001c0001t0001g0060 a0001c0001t0001g0310	2	336	0.0060	13	c.142 others(32): Show c.1428-1156_1428-1155insATTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244480627	A A	AGTCCCAG others(6): Show AGTCCCAGCTACAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(91): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004 a0002c0021 a0003c0005 a0011c0017 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0002c0004t0001 a0002c0004t0002 a0002c0021t0001 a0003c0005t0001 a0011c0017t0001 a0012c0012t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 others(91): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0206 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0062 a0001c0002t0002g0111 a0001c0002t0003g0204 a0001c0002t0004g0203 a0001c0003t0001g0031 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0089 a0001c0003t0001g0147 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0030 a0001c0007t0001g0133 a0001c0007t0001g0144 a0001c0007t0001g0146 a0002c0004t0001g0022 a0002c0004t0001g0041 a0002c0004t0001g0068 a0002c0004t0002g0023 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0021t0001g0065 a0003c0005t0001g0036 a0003c0005t0001g0049 a0003c0005t0001g0091 a0003c0005t0001g0124 a0011c0017t0001g0145 a0012c0012t0002g0037	94	206	0.4563	13	c.326 others(28): Show c.326+844_326+845insTCCCAGCTACAGG	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244489450	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0145 a0011c0017t0001g0145	1	206	0.0049	13	c.327 others(28): Show c.327-978_327-966dupTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553600	A A	AAATACAC others(6): Show AAATACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	206	0.0049	13	c.102 others(30): Show c.1029+787_1029+788insATACACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244584037	G G	GCAATACC others(6): Show GCAATACCTCCATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	206	0.0049	13	c.208 others(30): Show c.2085+112_2085+124dupCAATACCTCCATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244584540	A A	ATATTATA others(6): Show ATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0030 a0001c0003t0002g0030	1	206	0.0049	13	c.208 others(30): Show c.2085+604_2085+605insTATATTATATTAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625428	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp1 others(4): Show HG02109.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03453.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0001c0019 others(1): Show a0001c0001 a0001c0015 a0001c0019 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0015t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0002 a0001c0019t0004 a0002c0004t0002	a0001c0001t0001g0034 a0001c0001t0002g0206 a0001c0015t0002g0136 others(4): Show a0001c0001t0001g0034 a0001c0001t0002g0206 a0001c0015t0002g0136 a0001c0019t0004g0175 a0002c0004t0002g0015 a0002c0004t0002g0073 a0002c0004t0002g0074	7	206	0.0340	13	c.264 others(32): Show c.2648+7743_2648+7744insTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625430	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0041 a0002c0004t0001g0041	1	206	0.0049	13	c.264 others(32): Show c.2648+7745_2648+7746insTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02622.hp2 NA19056.hp1 HG01515.hp1 HG02622.hp2 NA19056.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0007c0011 a0001c0001 a0001c0006 a0007c0011	a0001c0001t0003 a0001c0006t0003 a0007c0011t0001 a0001c0001t0003 a0001c0006t0003 a0007c0011t0001	a0001c0001t0003g0154 a0001c0006t0003g0186 a0007c0011t0001g0013 a0001c0001t0003g0154 a0001c0006t0003g0186 a0007c0011t0001g0013	3	206	0.0146	13	c.264 others(32): Show c.2648+7747_2648+7748insATTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03831.hp1 HG02015.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0121 a0001c0001t0004g0163 a0001c0001t0001g0121 a0001c0001t0004g0163	2	206	0.0097	13	c.264 others(32): Show c.2648+7749_2648+7761dupTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116530208	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02615.hp1 others(3): Show HG01081.hp2 HG02145.hp1 HG02615.hp1 HG03098.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0276 a0001c0001t0006g0015 a0001c0001t0006g0111 others(3): Show a0001c0001t0002g0276 a0001c0001t0006g0015 a0001c0001t0006g0111 a0001c0002t0001g0071 a0001c0002t0001g0266 a0001c0002t0001g0274	6	342	0.0175	13	c.195 others(30): Show c.195+3520_195+3532dupTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0177 a0001c0003t0003g0177	1	342	0.0029	13	c.195 others(30): Show c.195+7707_195+7708insATATATTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	342	0.0029	13	c.195 others(30): Show c.195+7716_195+7728dupTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555476	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	342	0.0029	13	c.196 others(30): Show c.196-3469_196-3468insAGGAAGGAAGGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555484	A A	AAGAAGAA others(6): Show AAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	342	0.0029	13	c.196 others(30): Show c.196-3461_196-3460insGAAGAAAGAAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555520	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	342	0.0029	13	c.196 others(30): Show c.196-3425_196-3424insAAGAAAGAAAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42405682	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG03927.hp2 HG02486.hp2 HG03516.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0006 a0001c0001t0006 a0001c0003t0006	a0001c0001t0006g0102 a0001c0001t0006g0212 a0001c0003t0006g0108 a0001c0001t0006g0102 a0001c0001t0006g0212 a0001c0003t0006g0108	3	338	0.0089	13	c.472 others(28): Show c.472-307_472-295dupAAAAAAAAAAAAA	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(37): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG01255.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02074.hp2 HG02257.hp2 HG02273.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03471.hp2 HG03654.hp2 HG03688.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18953.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18980.hp1 NA18990.hp1 NA18992.hp1 NA19000.hp1 NA19003.hp2 NA19030.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0001t0030	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0039 others(32): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0263 a0001c0001t0005g0017 a0001c0001t0005g0140 a0001c0001t0005g0157 a0001c0001t0005g0164 a0001c0001t0005g0284 a0001c0001t0015g0055 a0001c0001t0015g0056 a0001c0001t0021g0199 a0001c0001t0030g0236	40	338	0.1183	13	c.472 others(30): Show c.472-5817_472-5805dupTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413565	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	338	0.0030	13	c.472 others(30): Show c.472-8178_472-8177insTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN4_chr9_100573079_100593389	100582924	A A	AAGCTAGA others(6): Show AAGCTAGAATAGCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	382	0.0026	13	c.409 others(30): Show c.409-2841_409-2840insAGCTAGAATAGCC	CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding	1/1			chr9	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	298	0.0034	13	c.34+ others(28): Show c.34+3973_34+3974insATATATATATTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20300.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0025 a0001c0001t0004g0019 a0001c0001t0004g0025	2	298	0.0067	13	c.34+ others(28): Show c.34+3973_34+3974insATATTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494274	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18964.hp2 HG01070.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0050 a0001c0001t0004g0038 a0001c0001t0004g0050	2	298	0.0067	13	c.34+ others(28): Show c.34+3973_34+3974insATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33557004	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0016	1	298	0.0034	13	c.35- others(30): Show c.35-49936_35-49924dupTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33559172	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02559.hp1 HG02647.hp1 others(2): Show HG00438.hp1 HG02559.hp1 HG02647.hp1 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0017 a0001c0001t0004g0023 a0001c0001t0004g0042 others(2): Show a0001c0001t0004g0017 a0001c0001t0004g0023 a0001c0001t0004g0042 a0001c0001t0015g0014 a0001c0001t0015g0016	5	298	0.0168	13	c.35- others(30): Show c.35-47775_35-47763dupTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33591179	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01167.hp1 others(13): Show HG00099.hp2 HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp2 NA18957.hp2 NA18968.hp2 NA19012.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018	a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0106 others(13): Show a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0056 a0001c0001t0005g0079 a0001c0001t0006g0157 a0001c0001t0018g0120 a0001c0001t0018g0121	16	298	0.0537	13	c.35- others(30): Show c.35-15767_35-15766insAAAAAAAAAAAAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88890675	G G	GAATCACT others(6): Show GAATCACTCTCCCA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	284	0.0035	13	c.711 others(30): Show c.711+1194_711+1206dupTGGGAGAGTGATT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67037666	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02559.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0208 a0001c0001t0004g0205 a0001c0001t0004g0208	2	212	0.0094	13	c.282 others(28): Show c.282+918_282+930dupTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03225.hp1 HG03516.hp1 others(6): Show HG01993.hp2 HG03225.hp1 HG03516.hp1 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA18992.hp2 NA19006.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0129 a0001c0001t0001g0171	9	212	0.0425	13	c.283 others(28): Show c.283-284_283-272dupAAAAAAAAAAAAA	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67092696	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	212	0.0047	13	c.496 others(30): Show c.496-6013_496-6012insTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105780655	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG01952.hp1 others(12): Show HG01123.hp2 HG01361.hp1 HG01952.hp1 HG01993.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02622.hp2 HG04228.hp2 NA18945.hp1 NA18967.hp1 NA18973.hp1 NA19062.hp2 NA19077.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0003 a0001c0001t0033 a0001c0016t0003 a0001c0001t0003 a0001c0001t0033 a0001c0016t0003	a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 others(12): Show a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0153 a0001c0001t0033g0161 a0001c0016t0003g0131	15	380	0.0395	13	c.420 others(30): Show c.420-4114_420-4113insCAAAAAAAAAAAA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105780656	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	380	0.0026	13	c.420 others(30): Show c.420-4115_420-4114insCAAAAAAAAAAAA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105780664	T T	TTTTGTTT others(6): Show TTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	380	0.0026	13	c.420 others(30): Show c.420-4123_420-4122insCAAAAAAAACAAA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLC_chr19_44772890_44805652	44804910	G G	GATGCTAG others(6): Show GATGCTAGGTAATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0001 a0000c0007t0001	a0000c0007t0001g0046 a0000c0007t0001g0046	1	344	0.0029	13	c.43 others(24): Show c.4367_*4368insATGCTAGGTAATC	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		4259		chr19	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01975.hp1 others(4): Show HG01257.hp1 HG01346.hp1 HG01975.hp1 HG03540.hp2 HG04204.hp1 NA18975.hp1 NA18988.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0001 a0001c0001t0001 a0006c0013t0001	a0001c0001t0001g0000 a0006c0013t0001g0000 a0001c0001t0001g0000 a0006c0013t0001g0000	7	346	0.0202	13	c.-10 others(24): Show c.-1032_-1031insTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBLL2_chrX_22267913_22279461	22274855	G G	GAAGATAT others(6): Show GAAGATATGGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	346	0.0029	13	c.58 others(22): Show c.586_*587insAAGATATGGCATT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		395		chrX	TogoVar
CBL_chr11_119201339_119313149	119260939	C C	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	364	0.0028	13	c.444 others(32): Show c.444-10796_444-10795insCTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15			chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)