Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAV3_chr3_8728802_8751758	8746799	T T	TCACACAC others(3): Show TCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0182 a0001c0003t0003g0182	1	476	0.0021	10	c.93 others(19): Show c.932_*933insCACACACACA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					42		chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42401707	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp2 others(8): Show HG00408.hp1 HG00558.hp2 HG00621.hp2 HG01099.hp2 HG01109.hp1 HG02257.hp2 HG03579.hp1 NA18990.hp2 NA19004.hp1 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0233 a0001c0001t0002g0268 a0001c0001t0004g0176 a0001c0001t0005g0184	11	338	0.0325	10	c.29 others(21): Show c.2979_*2980insCTTTCTTTCT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding					741		chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42405682	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20905.hp1 HG02735.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0109 a0001c0001t0006g0100 a0001c0001t0006g0109	2	338	0.0059	10	c.472 others(25): Show c.472-304_472-295dupAAAAAAAAAA		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413565	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	338	0.0030	10	c.472 others(27): Show c.472-8178_472-8177insTTTTTTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413566	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19002.hp2 NA18988.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0142 a0001c0001t0001g0155	2	338	0.0059	10	c.472 others(27): Show c.472-8188_472-8179dupTTTTTTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42419882	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03225.hp1 HG04115.hp2 HG01192.hp1 HG03225.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0023 a0001c0001t0003 a0001c0001t0007 a0001c0001t0023	a0001c0001t0003g0061 a0001c0001t0007g0084 a0001c0001t0023g0060 a0001c0001t0003g0061 a0001c0001t0007g0084 a0001c0001t0023g0060	3	338	0.0089	10	c.471 others(27): Show c.471+2735_471+2744dupACACACACAC		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CAVIN3_chr11_6313946_6325501	6320408	C C	CTCAAAAA others(3): Show CTCAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0018 a0007c0013t0001g0018	1	426	0.0024	10	c.68_ others(15): Show c.68_69insCCTTTTTTGA	p.Thr others(4): Show p.Thr24fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	93/1028	68/786	23/261			chr11	TogoVar
CAVIN4_chr9_100573079_100593389	100589587	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0021 a0001c0002t0008g0021	1	382	0.0026	10	c.31 others(21): Show c.3136_*3137insGTGTGTGTGT		CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding					1199		chr9	TogoVar
CBFA2T2_chr20_33485096_33655030	33493784	A A	AGCCTCTA others(3): Show AGCCTCTACTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0002t0024 a0001c0002t0035 a0001c0002t0045 a0001c0003t0001 a0001c0004t0006 a0001c0004t0044 a0001c0005t0002 a0001c0006t0007 a0001c0010t0028	a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0220 others(218): Show a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0298 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0099 a0001c0001t0005g0125 a0001c0001t0005g0130 a0001c0001t0005g0133 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0146 a0001c0001t0005g0155 a0001c0001t0006g0083 a0001c0001t0006g0091 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0118 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0157 a0001c0001t0010g0075 a0001c0001t0010g0088 a0001c0001t0010g0114 a0001c0001t0010g0150 a0001c0001t0010g0151 a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0164 a0001c0001t0012g0165 a0001c0001t0013g0197 a0001c0001t0013g0199 a0001c0001t0013g0212 a0001c0001t0014g0184 a0001c0001t0017g0102 a0001c0001t0018g0120 a0001c0001t0018g0121 a0001c0001t0019g0082 a0001c0001t0019g0117 a0001c0001t0020g0160 a0001c0001t0021g0265 a0001c0001t0021g0278 a0001c0001t0022g0103 a0001c0001t0023g0076 a0001c0001t0026g0198 a0001c0001t0038g0116 a0001c0001t0039g0137 a0001c0001t0041g0273 a0001c0001t0042g0194 a0001c0001t0043g0221 a0001c0002t0002g0161 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0294 a0001c0002t0009g0172 a0001c0002t0009g0173 a0001c0002t0009g0217 a0001c0002t0009g0218 a0001c0002t0009g0219 a0001c0002t0009g0290 a0001c0002t0016g0170 a0001c0002t0016g0190 a0001c0002t0016g0193 a0001c0002t0017g0124 a0001c0002t0020g0271 a0001c0002t0024g0074 a0001c0002t0035g0202 a0001c0002t0045g0216 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0260 a0001c0003t0001g0266 a0001c0003t0001g0281 a0001c0003t0001g0297 a0001c0004t0006g0093 a0001c0004t0006g0140 a0001c0004t0006g0142 a0001c0004t0044g0092 a0001c0005t0002g0179 a0001c0005t0002g0182 a0001c0005t0002g0186 a0001c0006t0007g0282 a0001c0010t0028g0132	221	298	0.7416	10	c.34+ others(25): Show c.34+3486_34+3487insTCTACTGGCC		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33493787	C C	CTCTACTG others(3): Show CTCTACTGGCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0213 a0001c0002t0027g0213	1	298	0.0034	10	c.34+ others(25): Show c.34+3486_34+3487insTCTACTGGCT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10						chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	298	0.0034	10	c.34+ others(25): Show c.34+3973_34+3974insATATATTTTT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0291 a0001c0001t0004g0291	1	298	0.0034	10	c.34+ others(25): Show c.34+3989_34+3998dupTTTTTTTTTT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33501630	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0295 a0001c0001t0040g0295	1	298	0.0034	10	c.34+ others(27): Show c.34+11348_34+11357dupTTTTTTTTTT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33529743	T T	TTTTATAT others(3): Show TTTTATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp2 HG02257.hp1 others(1): Show HG01496.hp1 HG02145.hp2 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0004g0039 a0001c0001t0007g0008 a0001c0001t0007g0013 others(1): Show a0001c0001t0004g0039 a0001c0001t0007g0008 a0001c0001t0007g0013 a0001c0001t0008g0005	4	298	0.0134	10	c.34+ others(27): Show c.34+39443_34+39444insTTATATATAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	C C	CAGAACAG others(3): Show CAGAACAGAAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19030.hp1 NA19012.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0056 a0001c0001t0031g0068 a0001c0001t0004g0056 a0001c0001t0031g0068	2	298	0.0067	10	c.34+ others(27): Show c.34+54648_34+54649insCAGAATAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	C C	CAGAATAG others(3): Show CAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp2 HG01884.hp1 others(9): Show HG01074.hp2 HG01516.hp2 HG01884.hp1 HG02615.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03225.hp2 HG03516.hp2 HG04204.hp1 NA18906.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0025	a0001c0001t0003g0096 a0001c0001t0003g0115 a0001c0001t0003g0158 others(9): Show a0001c0001t0003g0096 a0001c0001t0003g0115 a0001c0001t0003g0158 a0001c0001t0005g0078 a0001c0001t0005g0085 a0001c0001t0005g0136 a0001c0001t0005g0155 a0001c0001t0006g0141 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0019g0082 a0001c0001t0025g0009	12	298	0.0403	10	c.34+ others(27): Show c.34+54704_34+54713dupTAGAATAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544990	T T	TAGAACAG others(3): Show TAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	298	0.0034	10	c.34+ others(27): Show c.34+54693_34+54694insCAGAACAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAATAG others(3): Show TAGAATAGAAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	298	0.0034	10	c.34+ others(27): Show c.34+54713_34+54714insTAGAACAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33547687	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0133	1	298	0.0034	10	c.34+ others(27): Show c.34+57420_34+57429dupGTGTGTGTGT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33554558	T T	TTTTTCTT others(3): Show TTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG03486.hp1 others(1): Show HG02622.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0013 a0001c0001t0026	a0001c0001t0013g0197 a0001c0001t0013g0199 a0001c0001t0013g0212 others(1): Show a0001c0001t0013g0197 a0001c0001t0013g0199 a0001c0001t0013g0212 a0001c0001t0026g0198	4	298	0.0134	10	c.35- others(27): Show c.35-52384_35-52375dupTCTTTTCTTT		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(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01981.hp1 others(2): Show HG01109.hp2 HG01361.hp1 HG01981.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0004 a0001c0001t0036	a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0027 others(2): Show a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0051 a0001c0001t0036g0018	5	298	0.0168	10	c.35- others(27): Show c.35-47772_35-47763dupTTTTTTTTTT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33559193	T T	TTTTTTTT others(3): Show TTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02818.hp1 others(1): Show HG02486.hp2 HG02572.hp1 HG02818.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0011g0062 others(1): Show a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0011g0062 a0001c0001t0011g0066	4	298	0.0134	10	c.35- others(27): Show c.35-47763_35-47762insTTTTTTTTTC		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10						chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01891.hp2 HG02109.hp2 others(1): Show HG00544.hp2 HG01891.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0037 a0001c0001t0040	a0001c0001t0001g0269 a0001c0001t0018g0120 a0001c0001t0037g0296 others(1): Show a0001c0001t0001g0269 a0001c0001t0018g0120 a0001c0001t0037g0296 a0001c0001t0040g0295	4	298	0.0134	10	c.510 others(27): Show c.510+1698_510+1707dupTTTTTTTTTT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642114	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0179 a0001c0005t0002g0179	1	298	0.0034	10	c.148 others(29): Show c.1488+1584_1488+1585insGTGTGTGTGT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643859	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0014	1	298	0.0034	10	c.148 others(27): Show c.1489-487_1489-486insGTGTGTGTAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88888588	T T	TGGGGTGG others(3): Show TGGGGTGGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0232 a0001c0001t0031g0232	1	284	0.0035	10	c.712 others(27): Show c.712-2447_712-2446insCTCCCACCCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11						chr16	TogoVar
CBFB_chr16_67024149_67106058	67055357	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0197 a0001c0001t0005g0197	1	212	0.0047	10	c.283 others(29): Show c.283-11307_283-11298dupTTTTTTTTTT		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(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(70): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18960.hp2 NA18975.hp2 NA18990.hp2 NA18994.hp2 NA19011.hp1 NA19030.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0066 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0010g0071 a0001c0001t0013g0026	73	212	0.3443	10	c.283 others(25): Show c.283-281_283-272dupAAAAAAAAAA		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67075197	A A	ATACGTGT others(3): Show ATACGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0103 a0001c0001t0005g0197 a0001c0001t0001g0103 a0001c0001t0005g0197	2	212	0.0094	10	c.400 others(27): Show c.400-7015_400-7014insACGTGTGTGT		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67075197	A A	ATATGTGT others(3): Show ATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0030 a0001c0001t0008g0031	2	212	0.0094	10	c.400 others(27): Show c.400-7015_400-7014insATGTGTGTGT		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67084165	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0006 a0001c0001t0002g0010	2	212	0.0094	10	c.495 others(27): Show c.495+1872_495+1881dupAAAAAAAAAA		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105665404	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0274 a0001c0001t0009g0275 a0001c0001t0009g0274 a0001c0001t0009g0275	2	380	0.0053	10	c.268 others(29): Show c.2689+4828_2689+4829insATATATATAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105665408	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18966.hp2 NA18972.hp2 others(1): Show HG03453.hp1 NA18966.hp2 NA18972.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0004 a0001c0001t0004 a0001c0008t0004	a0001c0001t0004g0210 a0001c0008t0004g0177 a0001c0008t0004g0179 others(1): Show a0001c0001t0004g0210 a0001c0008t0004g0177 a0001c0008t0004g0179 a0001c0008t0004g0181	4	380	0.0105	10	c.268 others(29): Show c.2689+4824_2689+4825insATATATATAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105665412	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0175 a0001c0008t0004g0175	1	380	0.0026	10	c.268 others(29): Show c.2689+4820_2689+4821insATATATATAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105665442	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0201 a0001c0009t0004g0201	1	380	0.0026	10	c.268 others(29): Show c.2689+4790_2689+4791insGTATATATAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105754529	G G	GAGAGAGA others(3): Show GAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02486.hp2 HG02630.hp2 others(2): Show HG01069.hp2 HG02486.hp2 HG02630.hp2 HG02886.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0025 a0001c0001t0004 a0001c0001t0009 a0001c0001t0025	a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0009g0182 others(2): Show a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0009g0182 a0001c0001t0009g0186 a0001c0001t0025g0001	5	380	0.0132	10	c.567 others(27): Show c.567-2912_567-2911insGTCTCTCTCT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	4/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105821260	A A	ATATCTAT others(3): Show ATATCTATATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00639.hp1 others(31): Show HG00408.hp1 HG00621.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG02155.hp2 HG02165.hp2 HG03704.hp2 NA18612.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp2 NA18965.hp2 NA18972.hp1 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19078.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0305 a0001c0003t0005g0306 a0001c0003t0005g0307 others(31): Show a0001c0003t0005g0305 a0001c0003t0005g0306 a0001c0003t0005g0307 a0001c0003t0005g0308 a0001c0003t0005g0309 a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0313 a0001c0003t0005g0314 a0001c0003t0005g0315 a0001c0003t0005g0316 a0001c0003t0005g0317 a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0320 a0001c0003t0005g0321 a0001c0003t0005g0322 a0001c0003t0005g0323 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0329 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0340 a0001c0003t0005g0341	34	380	0.0895	10	c.419 others(29): Show c.419+32153_419+32154insGATATAGATA		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105847392	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03471.hp2 HG01069.hp1 HG01071.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0094	3	380	0.0079	10	c.419 others(27): Show c.419+6012_419+6021dupTGTGTGTGTG		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105873380	G G	GCACACAC others(3): Show GCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01943.hp2 HG03098.hp2 others(2): Show HG01884.hp1 HG01943.hp2 HG03098.hp2 HG03540.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0008 a0001c0002t0017 a0001c0004t0037 a0001c0002t0008 a0001c0002t0017 a0001c0004t0037	a0001c0002t0008g0300 a0001c0002t0017g0033 a0001c0002t0017g0034 others(2): Show a0001c0002t0008g0300 a0001c0002t0017g0033 a0001c0002t0017g0034 a0001c0002t0017g0035 a0001c0004t0037g0165	5	380	0.0132	10	c.-46 others(21): Show c.-4660_-4659insTGTGTGTGTG		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding					4369		chr3	TogoVar
CBLB_chr3_105650461_105874012	105873411	C C	CACACACA others(3): Show CACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG02896.hp1 others(3): Show HG01261.hp1 HG01361.hp2 HG02896.hp1 NA18960.hp2 NA18994.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0026 a0001c0002t0007 a0001c0002t0026	a0001c0002t0007g0013 a0001c0002t0007g0017 a0001c0002t0007g0018 others(3): Show a0001c0002t0007g0013 a0001c0002t0007g0017 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0026g0021	6	380	0.0158	10	c.-46 others(21): Show c.-4691_-4690insATGTGTGTGT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding					4400		chr3	TogoVar
CBLC_chr19_44772890_44805652	44774129	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01884.hp1 NA19005.hp2 HG01496.hp2 HG01884.hp1 NA19005.hp2	a0000 a0002 a0000 a0002	a0000c0004 a0002c0003 a0000c0004 a0002c0003	a0000c0004t0001 a0002c0003t0001 a0000c0004t0001 a0002c0003t0001	a0000c0004t0001g0088 a0002c0003t0001g0104 a0002c0003t0001g0110 a0000c0004t0001g0088 a0002c0003t0001g0104 a0002c0003t0001g0110	3	344	0.0087	10	c.-38 others(21): Show c.-3803_-3802insGTGTGTGTGT		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					3760		chr19	TogoVar
CBLC_chr19_44772890_44805652	44774130	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03139.hp1 others(2): Show HG02717.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 NA18970.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0007 a0001c0001 a0002c0003 a0000c0007 a0001c0001 a0002c0003	a0000c0007t0001 a0001c0001t0001 a0002c0003t0001 a0000c0007t0001 a0001c0001t0001 a0002c0003t0001	a0000c0007t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0129 others(2): Show a0000c0007t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0129 a0002c0003t0001g0098 a0002c0003t0001g0100	5	344	0.0145	10	c.-38 others(21): Show c.-3802_-3801insTGTGTGTGTG		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					3759		chr19	TogoVar
CBLC_chr19_44772890_44805652	44774945	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02145.hp1 others(14): Show HG01123.hp1 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0000 a0001 a0005 others(1): Show a0000 a0001 a0005 a0008	a0000c0002 a0000c0007 a0001c0001 others(5): Show a0000c0002 a0000c0007 a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0005c0012 a0008c0019	a0000c0002t0001 a0000c0007t0001 a0001c0001t0001 others(6): Show a0000c0002t0001 a0000c0007t0001 a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0002 a0005c0012t0001 a0008c0019t0001	a0000c0002t0001g0032 a0000c0002t0001g0039 a0000c0002t0001g0049 others(14): Show a0000c0002t0001g0032 a0000c0002t0001g0039 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0007t0001g0051 a0000c0007t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0006t0001g0062 a0001c0008t0001g0050 a0001c0009t0001g0065 a0001c0009t0002g0064 a0005c0012t0001g0059 a0005c0012t0001g0061 a0008c0019t0001g0060	17	344	0.0494	10	c.-29 others(21): Show c.-2987_-2986insTTTTGTTTTG		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					2944		chr19	TogoVar
CBLC_chr19_44772890_44805652	44779553	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp1 HG02976.hp1 others(5): Show HG00738.hp2 HG02486.hp1 HG02976.hp1 HG02976.hp2 HG03486.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0002 a0000c0007 a0001c0001 others(3): Show a0000c0002 a0000c0007 a0001c0001 a0001c0006 a0001c0009 a0003c0005	a0000c0002t0001 a0000c0007t0001 a0001c0001t0001 others(3): Show a0000c0002t0001 a0000c0007t0001 a0001c0001t0001 a0001c0006t0001 a0001c0009t0001 a0003c0005t0001	a0000c0002t0001g0067 a0000c0007t0001g0046 a0001c0001t0001g0068 others(5): Show a0000c0002t0001g0067 a0000c0007t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0006t0001g0047 a0001c0009t0001g0065 a0003c0005t0001g0066	8	344	0.0233	10	c.353 others(27): Show c.353+1275_353+1284dupTTTTTTTTTT		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44781401	C C	CAGGAGGA others(3): Show CAGGAGGAAGT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	344	0.0029	10	c.657 others(23): Show c.657+41_657+50dupGAGGAAGTAG		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLIF_chr11_59824273_59850499	59827460	G G	GACACACA others(3): Show GACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG04115.hp1 NA19043.hp1 HG02970.hp2 HG04115.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0190 a0002c0002t0001g0211 a0002c0002t0001g0244 a0001c0004t0001g0190 a0002c0002t0001g0211 a0002c0002t0001g0244	3	342	0.0088	10	c.20 others(21): Show c.2023_*2024insGTGTGTGTGT		CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding					1812		chr11	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01099.hp1 others(2): Show HG00099.hp2 HG00280.hp1 HG01099.hp1 HG03239.hp1 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	5	346	0.0145	10	c.-10 others(21): Show c.-1032_-1031insTTTTTTTTTT		CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding					952		chrX	TogoVar
CBLN2_chr18_72531681_72549342	72542909	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG01167.hp2 others(14): Show HG00408.hp2 HG01167.hp1 HG01167.hp2 HG01433.hp2 HG01993.hp1 HG02818.hp1 HG02976.hp1 NA18973.hp2 NA18977.hp1 NA18984.hp2 NA18999.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19064.hp2 NA19070.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0005 a0001c0002t0009 others(3): Show a0001c0001t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0025 a0001c0003t0002 a0001c0003t0026	a0001c0001t0004g0026 a0001c0002t0005g0037 a0001c0002t0009g0101 others(5): Show a0001c0001t0004g0026 a0001c0002t0005g0037 a0001c0002t0009g0101 a0001c0002t0025g0102 a0001c0003t0002g0015 a0001c0003t0002g0041 a0001c0003t0002g0103 a0001c0003t0026g0104	17	416	0.0409	10	c.-16 others(27): Show c.-167+567_-167+576dupTGTGTGTGTG		CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding	2/4						chr18	TogoVar
CBLN4_chr20_55992357_56010519	56010246	G G	GTCTCTCT others(3): Show GTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01258.hp1 HG01261.hp1 others(2): Show HG00140.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0019g0027 a0001c0001t0001g0003 a0001c0001t0019g0027	5	426	0.0117	10	c.-60 others(21): Show c.-6076_-6075insGAGAGAGAGA		CBLN4	ENSG00000054803.4	transcript	ENST00000064571.3	protein_coding					4728		chr20	TogoVar
CBL_chr11_119201339_119313149	119202645	G G	GTAAGGTA others(3): Show GTAAGGTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp2 others(6): Show HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02622.hp2 HG02647.hp1 HG03041.hp1 HG03486.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 others(1): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0061	a0001c0001t0013g0024 a0001c0001t0013g0025 a0001c0001t0013g0026 others(6): Show a0001c0001t0013g0024 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0019g0028 a0001c0001t0019g0031 a0001c0001t0023g0032 a0001c0001t0023g0033 a0001c0001t0061g0252	9	364	0.0247	10	c.-37 others(21): Show c.-3773_-3772insTAAGGTATTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding					3693		chr11	TogoVar

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