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 per page.

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
CBLB_chr3_105650461_105874012	105662989	G G	GCTGTTAC others(30): Show GCTGTTACTACTTGAGACCGTCACTACGAGAGTTACTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0161 a0001c0001t0033g0161	1	380	0.0026	37	c.269 others(56): Show c.2690-3797_2690-3761dupTAGTAACTCTCGTAGTGACGGTCTCA AGTAGTAACAG	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105663090	G G	GACAGTTA others(30): Show GACAGTTACTGCTGTTACTACTTGAGACCTTCACTATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(89): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA19003.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0004 a0001c0008 others(4): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0005c0020 a0010c0024	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(13): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0004t0004 a0001c0008t0004 a0001c0009t0004 a0001c0011t0047 a0005c0020t0006 a0010c0024t0004	a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0178 others(89): Show a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0215 a0001c0001t0004g0217 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0312 a0001c0001t0004g0342 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0006g0353 a0001c0001t0006g0354 a0001c0001t0006g0355 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0006g0359 a0001c0001t0006g0360 a0001c0001t0006g0361 a0001c0001t0006g0362 a0001c0001t0006g0363 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0006g0366 a0001c0001t0006g0367 a0001c0001t0006g0368 a0001c0001t0006g0370 a0001c0001t0006g0371 a0001c0001t0006g0372 a0001c0001t0009g0170 a0001c0001t0009g0173 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0274 a0001c0001t0009g0275 a0001c0001t0009g0276 a0001c0001t0022g0273 a0001c0001t0022g0277 a0001c0001t0025g0001 a0001c0001t0038g0214 a0001c0001t0040g0256 a0001c0001t0041g0166 a0001c0001t0042g0180 a0001c0001t0043g0204 a0001c0004t0004g0284 a0001c0008t0004g0175 a0001c0008t0004g0177 a0001c0008t0004g0179 a0001c0008t0004g0181 a0001c0009t0004g0190 a0001c0009t0004g0201 a0001c0009t0004g0202 a0001c0011t0047g0378 a0005c0020t0006g0356 a0010c0024t0004g0253	92	380	0.2421	37	c.269 others(56): Show c.2690-3898_2690-3862dupGATAGTGAAGGTCTCAAGTAGTAACA GCAGTAACTGT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105663102	T T	TGTTACTA others(30): Show TGTTACTACTTGAGACCTTCACTATCACAGTTACTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(164): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0003t0005 a0001c0007t0013 a0001c0011t0046 a0001c0013t0001 a0001c0014t0021 a0001c0016t0003 a0001c0017t0003 a0003c0006t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 others(164): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0011g0048 a0001c0001t0011g0050 a0001c0001t0011g0070 a0001c0001t0011g0086 a0001c0001t0011g0093 a0001c0001t0015g0047 a0001c0001t0015g0059 a0001c0001t0015g0067 a0001c0001t0015g0076 a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0016g0140 a0001c0001t0016g0141 a0001c0001t0018g0057 a0001c0001t0018g0085 a0001c0001t0018g0097 a0001c0001t0019g0112 a0001c0001t0019g0113 a0001c0001t0019g0114 a0001c0001t0028g0108 a0001c0001t0029g0109 a0001c0001t0032g0123 a0001c0001t0033g0161 a0001c0001t0034g0110 a0001c0001t0035g0157 a0001c0003t0005g0305 a0001c0003t0005g0306 a0001c0003t0005g0307 a0001c0003t0005g0308 a0001c0003t0005g0309 a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0313 a0001c0003t0005g0314 a0001c0003t0005g0315 a0001c0003t0005g0316 a0001c0003t0005g0317 a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0320 a0001c0003t0005g0321 a0001c0003t0005g0322 a0001c0003t0005g0323 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0329 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0334 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0340 a0001c0003t0005g0341 a0001c0007t0013g0373 a0001c0007t0013g0374 a0001c0007t0013g0375 a0001c0007t0013g0376 a0001c0007t0013g0377 a0001c0011t0046g0379 a0001c0013t0001g0040 a0001c0013t0001g0041 a0001c0014t0021g0301 a0001c0014t0021g0302 a0001c0016t0003g0131 a0001c0017t0003g0162 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0039 a0003c0006t0001g0046 a0003c0006t0001g0087 a0003c0006t0001g0098 a0004c0010t0001g0074 a0004c0010t0001g0075	167	380	0.4395	37	c.269 others(56): Show c.2690-3874_2690-3873insGGCAGTAACTGTGATAGTGAAGGTCT CAAGTAGTAAC	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105663116	A A	ACCTTCAC others(30): Show ACCTTCACTATCACAGTTACTGCCGTTACTACTTGAGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	380	0.0026	37	c.269 others(56): Show c.2690-3888_2690-3887insACTCAAGTAGTAACGGCAGTAACTGT GATAGTGAAGG	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLC_chr19_44772890_44805652	44793830	G G	GCCTGGAC others(30): Show GCCTGGACTCCTGGGTCTGATGGAGGTGGGTATGGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18940.hp2 NA18943.hp1 HG02135.hp2 NA18940.hp2 NA18943.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0012 a0000c0002t0001g0218 a0000c0002t0001g0012 a0000c0002t0001g0218	3	344	0.0087	37	c.128 others(54): Show c.1284+230_1284+266dupTGGAGGTGGGTATGGGGACCTGGACTCC TGGGTCTGA	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44801875	C C	CCTCCCTC others(30): Show CCTCCCTCAGACCCAGGAGTCCAGACCCCCAACCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(21): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG01123.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG03017.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03834.hp1 NA18984.hp2 NA18995.hp1 NA19005.hp2 NA19054.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0003	a0000c0002 a0000c0004 a0000c0007 others(3): Show a0000c0002 a0000c0004 a0000c0007 a0001c0001 a0002c0003 a0003c0005	a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 others(3): Show a0000c0002t0001 a0000c0004t0001 a0000c0007t0001 a0001c0001t0001 a0002c0003t0001 a0003c0005t0001	a0000c0002t0001g0272 a0000c0004t0001g0058 a0000c0007t0001g0051 others(21): Show a0000c0002t0001g0272 a0000c0004t0001g0058 a0000c0007t0001g0051 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0251 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0112 a0003c0005t0001g0055	24	344	0.0698	37	c.13 others(48): Show c.1332_*1333insCTCCCTCAGACCCAGGAGTCCAGACCCCCAACCC CTT	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		1224		chr19	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	364	0.0028	37	c.143 others(56): Show c.1432-1314_1432-1313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCBE1_chr18_59425939_59702423	59635415	C C	CTGAAATA others(30): Show CTGAAATAAGGGAAAACTGAAATAAGGGAAAACTGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0018 a0002c0002t0011 a0002c0002t0018	a0002c0002t0011g0002 a0002c0002t0018g0001 a0002c0002t0011g0002 a0002c0002t0018g0001	2	242	0.0083	37	c.212 others(56): Show c.212+61213_212+61214insTTTCAGTTTTCCCTTATTTCAGTTTT CCCTTATTTCA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATAATA others(30): Show ATATAATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	440	0.0023	37	c.676 others(54): Show c.676-1729_676-1728insTATAATATATATATATATATATATATAT ATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC127_chr5_191868_223153	196541	A A	ATGTCACC others(30): Show ATGTCACCCCGAGTGTGTCCCCACCCCAGGGGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0187 a0001c0003t0187	a0001c0003t0187g0241 a0001c0003t0187g0241	1	406	0.0025	37	c.87 others(48): Show c.8755_*8756insCGGGGCCCCCTGGGGTGGGGACACACTCGGGGTG ACA	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		326		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03139.hp1 HG00609.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0202 a0001c0001t0002g0177 a0001c0001t0002g0202	2	354	0.0057	37	c.97- others(54): Show c.97-10734_97-10733insATATATATATATATATATATATATATTT TTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	354	0.0028	37	c.97- others(54): Show c.97-10734_97-10733insATATATATATATATATATATATATATAT TTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	380	0.0026	37	c.346 others(54): Show c.346+1972_346+1973insATATATATATATATATATATATATATTT TTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	380	0.0026	37	c.346 others(54): Show c.346+1972_346+1973insATATATATATATATATATATATATTTTT TTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC141_chr2_178824757_179055137	179015077	T T	TATATATA others(30): Show TATATATATATACACATATATATATTATATATATAATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG03139.hp1 others(1): Show HG02258.hp2 HG02965.hp2 HG03139.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0006 a0001c0001t0001 a0004c0005t0006	a0001c0001t0001g0047 a0001c0001t0001g0048 a0004c0005t0006g0045 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0004c0005t0006g0045 a0004c0005t0006g0046	4	274	0.0146	37	c.225 others(56): Show c.225+32206_225+32207insGATTATATATATAATATATATATGTG TATATATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179015120	T T	TATATATA others(30): Show TATATATATATATACATATATATATTATATATATAATC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18963.hp2 NA18964.hp2 others(2): Show NA18939.hp2 NA18963.hp2 NA18964.hp2 NA18988.hp1 NA19007.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0001c0016 others(1): Show a0001c0001 a0001c0007 a0001c0016 a0004c0005	a0001c0001t0001 a0001c0007t0007 a0001c0007t0081 others(2): Show a0001c0001t0001 a0001c0007t0007 a0001c0007t0081 a0001c0016t0007 a0004c0005t0039	a0001c0001t0001g0033 a0001c0007t0007g0032 a0001c0007t0081g0035 others(2): Show a0001c0001t0001g0033 a0001c0007t0007g0032 a0001c0007t0081g0035 a0001c0016t0007g0034 a0004c0005t0039g0003	5	274	0.0183	37	c.225 others(56): Show c.225+32163_225+32164insGATTATATATATAATATATATATGTA TATATATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0069 a0004c0003t0002g0069	1	264	0.0038	37	c.25+ others(54): Show c.25+23323_25+23324insATATATATATATATATATATATATTTTT TTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC170_chr6_151489017_151626193	151514353	G G	GAGGGAGG others(30): Show GAGGGAGGGAAGGGAAGAAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(42): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG06807.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18980.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0010 a0012 a0015	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0015 a0003c0008 a0003c0009 a0003c0012 a0009c0016 a0010c0020 a0010c0033 a0012c0022 a0012c0028 a0015c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0005t0003 a0001c0005t0012 a0001c0005t0015 a0001c0005t0030 a0002c0002t0001 a0002c0002t0019 a0002c0002t0023 a0002c0003t0001 a0002c0003t0004 a0002c0003t0062 a0002c0003t0063 a0002c0003t0064 a0002c0015t0001 a0003c0008t0005 a0003c0008t0007 a0003c0008t0029 a0003c0009t0005 a0003c0012t0005 a0009c0016t0006 a0010c0020t0016 a0010c0033t0016 a0012c0022t0043 a0012c0028t0057 a0015c0019t0006	a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0003g0174 others(42): Show a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0003g0174 a0001c0001t0003g0188 a0001c0001t0003g0237 a0001c0001t0012g0189 a0001c0005t0003g0163 a0001c0005t0012g0160 a0001c0005t0015g0172 a0001c0005t0015g0183 a0001c0005t0030g0191 a0002c0002t0001g0169 a0002c0002t0019g0157 a0002c0002t0023g0167 a0002c0003t0001g0168 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0173 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0197 a0002c0003t0004g0159 a0002c0003t0062g0185 a0002c0003t0063g0187 a0002c0003t0064g0162 a0002c0015t0001g0164 a0002c0015t0001g0190 a0002c0015t0001g0192 a0002c0015t0001g0193 a0003c0008t0005g0177 a0003c0008t0007g0205 a0003c0008t0029g0198 a0003c0009t0005g0158 a0003c0012t0005g0161 a0009c0016t0006g0166 a0009c0016t0006g0196 a0010c0020t0016g0204 a0010c0033t0016g0207 a0012c0022t0043g0165 a0012c0028t0057g0203 a0015c0019t0006g0206 a0015c0019t0006g0208	45	320	0.1406	37	c.57+ others(54): Show c.57+20177_57+20178insAGGGAAGAAGGGAGGGAGGGAGGGAGGA AGGGAGGGA	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC170_chr6_151489017_151626193	151514357	G G	GAGGGAAG others(30): Show GAGGGAAGGGAAGAAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp2 HG01891.hp2 others(12): Show HG01175.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0005 a0002c0002 a0002c0003 others(4): Show a0001c0005 a0002c0002 a0002c0003 a0003c0004 a0003c0008 a0003c0012 a0006c0011	a0001c0005t0058 a0002c0002t0045 a0002c0003t0014 others(7): Show a0001c0005t0058 a0002c0002t0045 a0002c0003t0014 a0002c0003t0060 a0003c0004t0007 a0003c0008t0007 a0003c0008t0035 a0003c0012t0007 a0006c0011t0008 a0006c0011t0011	a0001c0005t0058g0124 a0002c0002t0045g0120 a0002c0003t0014g0118 others(12): Show a0001c0005t0058g0124 a0002c0002t0045g0120 a0002c0003t0014g0118 a0002c0003t0014g0119 a0002c0003t0060g0122 a0003c0004t0007g0113 a0003c0004t0007g0114 a0003c0004t0007g0123 a0003c0008t0007g0112 a0003c0008t0007g0210 a0003c0008t0035g0121 a0003c0012t0007g0225 a0006c0011t0008g0115 a0006c0011t0008g0116 a0006c0011t0011g0117	15	320	0.0469	37	c.57+ others(54): Show c.57+20177_57+20178insAGGGAAGAAGGGAGGGAGGGAGGGAGGG AGGAAGGGA	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(30): Show GCGCGCGCGCAGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	266	0.0038	37	c.822 others(50): Show c.822+63_822+64insGCGCGCGCAGCGCGCGCGCGCACACACACACA CACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTGGCTG others(30): Show CCTGGCTGCCTTCCTCCCCTCCCATCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(81): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02145.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0014 a0018 a0019	a0001c0001 a0002c0002 a0002c0013 others(4): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0014c0023 a0018c0019 a0019c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0002c0002t0002 a0002c0002t0011 a0002c0013t0020 a0003c0003t0001 a0003c0003t0002 a0014c0023t0001 a0018c0019t0002 a0019c0018t0002	a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0156 others(81): Show a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0015g0233 a0002c0002t0002g0064 a0002c0002t0002g0074 a0002c0002t0002g0084 a0002c0002t0002g0096 a0002c0002t0002g0104 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0131 a0002c0002t0002g0138 a0002c0002t0011g0094 a0002c0013t0020g0127 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0002g0021 a0003c0003t0002g0136 a0003c0003t0002g0137 a0014c0023t0001g0157 a0018c0019t0002g0102 a0019c0018t0002g0092	84	266	0.3158	37	c.360 others(56): Show c.3600+8356_3600+8357insGGCTGCCTTCCTCCCCTCCCATCCCC TCCCCTCCTCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 NA19007.hp2 HG01261.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	414	0.0048	37	c.82 others(48): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	364	0.0028	37	c.-23 others(48): Show c.-2327_-2326insAAAAAAAAAAAAAATATATATATATATATATATA TAT	CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding		2194		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(30): Show GTGTGTATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	362	0.0028	37	c.-50 others(48): Show c.-5086_-5085insTATATATACCATATTATATATATATACCATATAC ACA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(30): Show AAGTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01433.hp1 others(6): Show HG01074.hp2 HG01243.hp2 HG01433.hp1 HG02071.hp2 HG02165.hp1 HG02723.hp2 HG03942.hp1 NA18612.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0209 a0001c0001t0002g0210 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0235 a0001c0001t0002g0240	9	334	0.0270	37	c.106 others(54): Show c.106-1129_106-1128insATATATATATATATATATATATATATAT ATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGG others(30): Show AAGAGGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG00099.hp1 HG00733.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0004 a0002c0004t0001 a0002c0004t0004	a0002c0004t0001g0174 a0002c0004t0004g0343 a0002c0004t0001g0174 a0002c0004t0004g0343	2	350	0.0057	37	c.305 others(54): Show c.305-1993_305-1992insCCCTCTCCCTCTCCCTCTCCCTCTCCGT CTCCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0189 a0001c0022t0004g0189	1	378	0.0027	37	c.116 others(56): Show c.1160-2477_1160-2476insATATATATATATATATATTTTTTTTT TTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80065055	T T	TCCTCCCT others(30): Show TCCTCCCTCTCCCCCTCCTCCCTCTTTCATCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01496.hp2 others(18): Show HG00639.hp2 HG01243.hp2 HG01496.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0005 a0001c0032 a0001c0058 others(2): Show a0001c0005 a0001c0032 a0001c0058 a0002c0018 a0007c0017	a0001c0005t0001 a0001c0032t0006 a0001c0058t0001 others(2): Show a0001c0005t0001 a0001c0032t0006 a0001c0058t0001 a0002c0018t0002 a0007c0017t0003	a0001c0005t0001g0079 a0001c0005t0001g0324 a0001c0005t0001g0328 others(18): Show a0001c0005t0001g0079 a0001c0005t0001g0324 a0001c0005t0001g0328 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0005t0001g0332 a0001c0005t0001g0333 a0001c0005t0001g0334 a0001c0005t0001g0335 a0001c0005t0001g0337 a0001c0005t0001g0338 a0001c0005t0001g0339 a0001c0005t0001g0340 a0001c0032t0006g0327 a0001c0032t0006g0336 a0001c0058t0001g0321 a0002c0018t0002g0318 a0007c0017t0003g0322 a0007c0017t0003g0325 a0007c0017t0003g0326 a0007c0017t0003g0331	21	378	0.0556	37	c.144 others(54): Show c.1441-377_1441-341dupCCTCCCTCTTTCATCTCCTCCCCCTCCC TCTCCCCCT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80065055	T T	TCCTCCCT others(30): Show TCCTCCCTCTCCCCCTCCTCCCTCTTTCATCTCTTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0323 a0001c0005t0001g0323	1	378	0.0027	37	c.144 others(54): Show c.1441-398_1441-397insTTCCCCCTCCCTCTCCCCCTCCTCCCTC TTTCATCTC	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(30): Show GGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	372	0.0027	37	c.-40 others(46): Show c.-401_-400insGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(30): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02717.hp2 NA18962.hp2 others(3): Show HG02040.hp1 HG02717.hp2 NA18962.hp2 NA18964.hp2 NA18975.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0030t0001 a0001c0001t0001 a0001c0030t0001	a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0149 a0001c0001t0001g0201 a0001c0001t0001g0322 a0001c0030t0001g0182	6	372	0.0161	37	c.-40 others(46): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGTGTGT others(30): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 NA18995.hp1 HG03139.hp2 NA18995.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0006 a0001c0001t0001 a0003c0004t0006	a0001c0001t0001g0153 a0003c0004t0006g0222 a0001c0001t0001g0153 a0003c0004t0006g0222	2	372	0.0054	37	c.-40 others(46): Show c.-401_-400insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56561373	T T	TTTTTGGT others(30): Show TTTTTGGTAGGCCTATAATAAAGTTACTAGTCTTGGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04204.hp1 HG02602.hp2 HG04204.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0311 a0008c0012t0008g0312 a0008c0012t0008g0311 a0008c0012t0008g0312	2	372	0.0054	37	c.102 others(54): Show c.102+1785_102+1821dupGTAGGCCTATAATAAAGTTACTAGTCTT GGACTTTTG	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC66_chr3_56552175_56626837	56597777	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02080.hp1 HG02602.hp2 others(9): Show HG02074.hp2 HG02080.hp1 HG02602.hp2 HG03017.hp1 HG03669.hp1 NA18612.hp2 NA18962.hp1 NA18983.hp2 NA18993.hp2 NA18998.hp1 NA19066.hp1 NA19086.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0011	a0002c0002 a0003c0004 a0008c0012 others(1): Show a0002c0002 a0003c0004 a0008c0012 a0011c0021	a0002c0002t0002 a0002c0002t0003 a0003c0004t0004 others(2): Show a0002c0002t0002 a0002c0002t0003 a0003c0004t0004 a0008c0012t0008 a0011c0021t0003	a0002c0002t0002g0249 a0002c0002t0002g0267 a0002c0002t0002g0276 others(9): Show a0002c0002t0002g0249 a0002c0002t0002g0267 a0002c0002t0002g0276 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0003g0251 a0002c0002t0003g0259 a0002c0002t0003g0272 a0003c0004t0004g0226 a0008c0012t0008g0311 a0011c0021t0003g0253	12	372	0.0323	37	c.140 others(56): Show c.1404+3764_1404+3765insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC7_chr10_32441140_32887864	32828439	G G	GAAGGAGA others(30): Show GAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18939.hp2 NA19077.hp1 HG01943.hp1 NA18939.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0182 a0001c0002t0001g0191 a0001c0002t0001g0156 a0001c0002t0001g0182 a0001c0002t0001g0191	3	368	0.0082	37	c.326 others(56): Show c.3268+3836_3268+3837insAGGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0028	1	316	0.0032	37	c.403 others(54): Show c.403-3496_403-3495insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55390053	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp1 HG01433.hp1 HG01070.hp1 HG01261.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0007 a0001c0001t0019	a0001c0001t0007g0276 a0001c0001t0019g0274 a0001c0001t0019g0302 a0001c0001t0007g0276 a0001c0001t0019g0274 a0001c0001t0019g0302	3	316	0.0095	37	c.165 others(54): Show c.165-1168_165-1167insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC9B_chr15_40326452_40345939	40333566	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 NA18943.hp2 HG04228.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0065 a0001c0001t0046 a0001c0001t0065	a0001c0001t0046g0074 a0001c0001t0065g0079 a0001c0001t0046g0074 a0001c0001t0065g0079	2	422	0.0047	37	c.15 others(48): Show c.1591_*1592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CCDC9B	ENSG00000188549.13	transcript	ENST00000397536.7	protein_coding	11/11	1591		chr15	TogoVar
CCNB1IP1_chr14_20306370_20338279	20332005	C C	CATATATA others(30): Show CATATATATATATATATATGATGTGTATACATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	418	0.0024	37	c.-43 others(56): Show c.-431+1248_-431+1249insATATATATGTATACACATCATATATA TATATATATAT	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	1/6			chr14	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	420	0.0024	37	c.-32 others(48): Show c.-3237_-3236insAAAAAAAAAAAAAATATATATATATATATATATA TAT	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding		3123		chr5	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	420	0.0024	37	c.-32 others(48): Show c.-3237_-3236insAAAAAAAAAAAATATATATATATATATATATATA TAT	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding		3123		chr5	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATCTATATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	414	0.0024	37	c.-20 others(48): Show c.-2039_-2038insAGATATAGATATATATATATATATATATATATTT TTT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATCTATATCTATATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	414	0.0024	37	c.-20 others(48): Show c.-2039_-2038insATAGATATAGATATAGATATATATATATATATTT TTT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATCTATATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	414	0.0024	37	c.-20 others(48): Show c.-2039_-2038insAGATATAGATATATATATATATATATATATATAT TTT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATCTATATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	414	0.0024	37	c.-20 others(48): Show c.-2039_-2038insATAGATATAGATATATATATATATATATATATAT TTT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATCTATATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03540.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	414	0.0048	37	c.-20 others(48): Show c.-2039_-2038insAGATATAGATATATATATATATATATATATATAT ATT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AAATATCT others(30): Show AAATATCTATATATATATATATATATATATATATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02970.hp2 others(1): Show HG01891.hp2 HG02280.hp2 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	414	0.0097	37	c.-20 others(48): Show c.-2039_-2038insATAGATATATATATATATATATATATATATAGAT ATT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCNT2_chr2_134913822_134964342	134928274	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	404	0.0025	37	c.240 others(54): Show c.240+8402_240+8403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	436	0.0023	37	c.367 others(54): Show c.367+4420_367+4421insATATATATATATATATATATATTTTTTT TTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0363 a0001c0001t0006g0363	1	436	0.0023	37	c.367 others(54): Show c.367+4420_367+4421insATATATATATATATATATATATATTTTT TTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar

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