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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN5_chr11_77061971_77131155	77113736	G G	GGCTTGTC others(17): Show GGCTTGTCTTCCCCACTCCACAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(239): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0011 others(12): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0001c0019 a0001c0020 a0002c0003 a0003c0004 a0003c0009 a0004c0005 a0005c0006 a0006c0008 a0009c0014 a0010c0018 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0014 a0001c0002t0050 a0001c0011t0031 a0001c0015t0003 a0001c0019t0044 a0001c0020t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0003t0017 a0002c0003t0028 a0003c0004t0002 a0003c0004t0021 a0003c0009t0029 a0004c0005t0004 a0004c0005t0040 a0005c0006t0011 a0006c0008t0003 a0009c0014t0002 a0010c0018t0004 a0012c0017t0016	a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0075 others(227): Show a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0225 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0358 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0052 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0003g0256 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0290 a0001c0001t0003g0313 a0001c0001t0003g0323 a0001c0001t0003g0329 a0001c0001t0003g0339 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0004g0089 a0001c0001t0004g0137 a0001c0001t0004g0248 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0289 a0001c0001t0004g0295 a0001c0001t0004g0334 a0001c0001t0005g0054 a0001c0001t0005g0067 a0001c0001t0005g0119 a0001c0001t0005g0129 a0001c0001t0005g0161 a0001c0001t0005g0169 a0001c0001t0005g0172 a0001c0001t0005g0196 a0001c0001t0005g0266 a0001c0001t0005g0287 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0345 a0001c0001t0006g0043 a0001c0001t0006g0183 a0001c0001t0006g0206 a0001c0001t0006g0219 a0001c0001t0006g0227 a0001c0001t0006g0237 a0001c0001t0006g0240 a0001c0001t0006g0280 a0001c0001t0006g0338 a0001c0001t0006g0343 a0001c0001t0007g0008 a0001c0001t0007g0097 a0001c0001t0007g0188 a0001c0001t0007g0201 a0001c0001t0007g0262 a0001c0001t0007g0277 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0330 a0001c0001t0008g0031 a0001c0001t0008g0130 a0001c0001t0008g0205 a0001c0001t0009g0032 a0001c0001t0010g0085 a0001c0001t0010g0263 a0001c0001t0010g0264 a0001c0001t0010g0281 a0001c0001t0010g0291 a0001c0001t0010g0305 a0001c0001t0011g0148 a0001c0001t0011g0176 a0001c0001t0011g0233 a0001c0001t0011g0296 a0001c0001t0011g0298 a0001c0001t0012g0200 a0001c0001t0012g0229 a0001c0001t0012g0353 a0001c0001t0014g0275 a0001c0001t0016g0243 a0001c0001t0016g0255 a0001c0001t0016g0307 a0001c0001t0017g0101 a0001c0001t0017g0232 a0001c0001t0018g0044 a0001c0001t0018g0056 a0001c0001t0018g0120 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0020g0166 a0001c0001t0024g0004 a0001c0001t0025g0111 a0001c0001t0025g0247 a0001c0001t0028g0170 a0001c0001t0029g0362 a0001c0001t0030g0071 a0001c0001t0032g0079 a0001c0001t0033g0226 a0001c0001t0034g0321 a0001c0001t0035g0304 a0001c0001t0036g0306 a0001c0001t0037g0110 a0001c0001t0041g0320 a0001c0001t0043g0098 a0001c0001t0045g0351 a0001c0001t0046g0182 a0001c0001t0048g0267 a0001c0001t0049g0114 a0001c0001t0053g0326 a0001c0001t0055g0059 a0001c0001t0056g0046 a0001c0001t0058g0049 a0001c0002t0002g0210 a0001c0002t0003g0213 a0001c0002t0006g0212 a0001c0002t0007g0208 a0001c0002t0012g0179 a0001c0002t0012g0185 a0001c0002t0012g0194 a0001c0002t0014g0184 a0001c0002t0014g0209 a0001c0002t0014g0214 a0001c0002t0014g0221 a0001c0002t0050g0361 a0001c0011t0031g0231 a0001c0015t0003g0315 a0001c0019t0044g0228 a0001c0020t0002g0285 a0002c0003t0006g0042 a0002c0003t0007g0297 a0002c0003t0011g0234 a0002c0003t0017g0199 a0002c0003t0028g0335 a0003c0004t0002g0354 a0003c0004t0021g0009 a0003c0004t0021g0235 a0003c0009t0029g0360 a0004c0005t0004g0029 a0004c0005t0040g0068 a0005c0006t0011g0355 a0005c0006t0011g0357 a0006c0008t0003g0019 a0009c0014t0002g0204 a0010c0018t0004g0107 a0012c0017t0016g0121	242	382	0.6335	24	c.507 others(39): Show c.507-505_507-504insCTTGTCTTCCCCACTCCACAGGAG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(17): Show CCTGCTGCTGCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02055.hp1 others(13): Show HG01106.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0006 a0002c0002t0009 a0002c0003t0003 a0002c0002t0006 a0002c0002t0009 a0002c0003t0003	a0002c0002t0006g0018 a0002c0002t0006g0040 a0002c0002t0009g0042 others(5): Show a0002c0002t0006g0018 a0002c0002t0006g0040 a0002c0002t0009g0042 a0002c0002t0009g0043 a0002c0003t0003g0006 a0002c0003t0003g0012 a0002c0003t0003g0019 a0002c0003t0003g0041	16	242	0.0661	24	c.-58 others(31): Show c.-58_-35dupCAGCAGCAGCAGCAGCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CAPN9_chr1_230742388_230806989	230761555	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0164 a0002c0013t0002g0164	1	394	0.0025	24	c.403 others(41): Show c.403-1081_403-1080insCACACACACACACACACACACACA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800231	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	394	0.0025	24	c.204 others(43): Show c.2047-1287_2047-1264dupAAAGAAAGAAAGAAAGAAAGAAAG	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPSL_chr5_35899288_35943622	35919168	A A	ATTATATA others(17): Show ATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0273 a0002c0002t0003g0273	1	402	0.0025	24	c.137 others(41): Show c.137+1815_137+1816insATATATATATATATATATATATAA	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPZA1_chr1_112614832_112676616	112638897	C C	CATAGATA others(17): Show CATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp1 HG02622.hp2 others(7): Show HG01175.hp2 HG02055.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG03017.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0002g0026 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0305	10	368	0.0272	24	c.40- others(39): Show c.40-8296_40-8273dupATATAGATATAGATATAGATATAG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03654.hp2 HG01243.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0165 a0001c0001t0002g0119 a0001c0001t0002g0165	2	354	0.0057	24	c.40- others(39): Show c.40-7416_40-7393dupTTTTTTTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02723.hp2 others(4): Show HG02145.hp2 HG02258.hp1 HG02723.hp2 HG02922.hp1 HG02976.hp1 NA18974.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0021 a0001c0001t0001g0066 a0001c0001t0001g0169 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0066 a0001c0001t0001g0169 a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0001t0002g0036 a0001c0001t0006g0308	7	364	0.0192	24	c.330 others(41): Show c.330-8744_330-8721dupATATATATATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2969134	T T	TCATTCAT others(17): Show TCATTCATTCATTTACTCACTCATC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19085.hp1 NA18948.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0157 a0001c0002t0001g0046 a0001c0002t0001g0157	2	322	0.0062	24	c.-12 others(45): Show c.-125-10504_-125-10503insGATGAGTGAGTAAATGAATGAATG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2984538	T T	TCCCTCCC others(17): Show TCCCTCCCTCCCTCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02602.hp1 HG02896.hp2 HG02300.hp2 HG02602.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0253 a0001c0001t0001g0302 a0001c0003t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0302 a0001c0003t0001g0240	3	322	0.0093	24	c.-12 others(45): Show c.-125-25908_-125-25907insGGGAAGGGAGGGAGGGAGGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3004560	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp1 HG00639.hp2 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0004 a0001c0004t0001 a0001c0006t0004	a0001c0004t0001g0304 a0001c0006t0004g0305 a0001c0004t0001g0304 a0001c0006t0004g0305	2	322	0.0062	24	c.-12 others(45): Show c.-126+39106_-126+39107insCACACACACACACACACACACACA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3008643	T T	TAGGAAGG others(17): Show TAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0262 a0001c0002t0011g0262	1	322	0.0031	24	c.-12 others(45): Show c.-126+35000_-126+35023dupTCCTTCCTTCCTTCCTTCCTTCCT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80171173	T T	TCCTCCCT others(17): Show TCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0046 a0002c0005t0007g0046	1	376	0.0027	24	c.-69 others(43): Show c.-690+1129_-690+1152dupCCCTCCCTCCCTCCCTCCCTCCCT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80171205	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0050 a0001c0001 a0007c0050	a0001c0001t0002 a0007c0050t0003 a0001c0001t0002 a0007c0050t0003	a0001c0001t0002g0356 a0007c0050t0003g0355 a0001c0001t0002g0356 a0007c0050t0003g0355	2	376	0.0053	24	c.-69 others(43): Show c.-690+1152_-690+1153insCCCTCCCTCCCTCCCTTCCTTCCT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03942.hp2 HG04204.hp1 others(3): Show HG01978.hp1 HG03942.hp2 HG04204.hp1 NA18939.hp1 NA18982.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0033 a0001c0002t0002 a0001c0002t0033	a0001c0002t0002g0105 a0001c0002t0002g0165 a0001c0002t0002g0175 others(3): Show a0001c0002t0002g0105 a0001c0002t0002g0165 a0001c0002t0002g0175 a0001c0002t0002g0199 a0001c0002t0002g0242 a0001c0002t0033g0153	6	470	0.0128	24	c.31 others(35): Show c.3163_*3186dupAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	470	0.0021	24	c.281 others(41): Show c.281+1063_281+1086dupAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0417 a0001c0001t0001g0417	1	470	0.0021	24	c.-7- others(39): Show c.-7-2678_-7-2655dupAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10871589	A A	AGCGGCGG others(17): Show AGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0198 a0001c0001t0060g0198	1	354	0.0028	24	c.-87 others(31): Show c.-87_-64dupGGCGGCGGCGGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	63	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871604	G G	GGCGGCGG others(17): Show GGCGGCGGCGGCGGCGGCGGCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0106 a0001c0001t0062g0106	1	354	0.0028	24	c.-76 others(31): Show c.-76_-75insTGCGGCGGCGGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	75	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871637	G G	GGCGGCGG others(17): Show GGCGGCGGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0123 a0001c0001t0058g0123	1	354	0.0028	24	c.-64 others(31): Show c.-64_-63insGGCGGCGGCGGCGGCGGCGGCAGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	63	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25332762	C C	CACACACA others(17): Show CACACACACACACACACACACGCAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG02738.hp2 others(2): Show HG00735.hp2 HG01361.hp1 HG02738.hp2 HG03516.hp2 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0003c0010	a0001c0001t0001 a0001c0003t0008 a0001c0004t0004 others(2): Show a0001c0001t0001 a0001c0003t0008 a0001c0004t0004 a0002c0005t0003 a0003c0010t0003	a0001c0001t0001g0020 a0001c0003t0008g0127 a0001c0004t0004g0023 others(2): Show a0001c0001t0001g0020 a0001c0003t0008g0127 a0001c0004t0004g0023 a0002c0005t0003g0011 a0003c0010t0003g0112	5	186	0.0269	24	c.138 others(43): Show c.138+47863_138+47864insACACACACACGCATACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01255.hp1 others(5): Show HG00544.hp1 HG00544.hp2 HG01255.hp1 HG01433.hp2 HG02738.hp1 HG03654.hp2 NA19003.hp1 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0029 others(2): Show a0001c0001 a0001c0006 a0001c0029 a0003c0017 a0003c0023	a0001c0001t0001 a0001c0001t0003 a0001c0006t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0002 a0001c0006t0003 a0001c0029t0006 a0003c0017t0006 a0003c0023t0002	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0003g0128 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0003g0128 a0001c0006t0002g0131 a0001c0006t0003g0049 a0001c0029t0006g0129 a0003c0017t0006g0103 a0003c0023t0002g0072	8	186	0.0430	24	c.615 others(41): Show c.615-6627_615-6604dupCTTTCTTTCTTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67419364	C C	CATCTCTG others(17): Show CATCTCTGGGGCAATCCCCTGCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0040 a0001c0019t0006g0040	1	346	0.0029	24	c.852 others(38): Show c.852+122_853-99dupATCTCTGGGGCAATCCCCTGCCCT	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(17): Show TTCCTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG04184.hp1 HG00323.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0266 a0001c0001t0001g0207 a0001c0001t0001g0266	2	321	0.0062	24	c.802 others(41): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	321	0.0031	24	c.802 others(41): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(17): Show CTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18957.hp2 NA19091.hp1 HG01167.hp2 NA18957.hp2 NA19091.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0048 a0002c0004t0001g0055 a0002c0004t0001g0037 a0002c0004t0001g0048 a0002c0004t0001g0055	3	372	0.0081	24	c.105 others(43): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679599	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG03516.hp1 others(1): Show HG02647.hp1 HG02809.hp1 HG03516.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0001c0002 a0003c0011	a0001c0002t0002 a0003c0011t0002 a0001c0002t0002 a0003c0011t0002	a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 others(1): Show a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0003c0011t0002g0243	4	372	0.0108	24	c.656 others(41): Show c.656-2497_656-2496insTTCTTTCTTTCTTTCTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140372	C C	CCCAACAC others(17): Show CCCAACACACACACACCCCAACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0014 a0004c0005t0005g0014	1	266	0.0038	24	c.-17 others(33): Show c.-177_-176insCCAACACACACACACCCCAACACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		164		chr17	TogoVar
CASK_chrX_41509934_41928554	41598134	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0004 a0001c0001t0007g0005	2	164	0.0122	24	c.115 others(43): Show c.1156-8566_1156-8543dupGTGTGTGTGTGTGTGTGTGTGTGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0049 a0001c0001t0028g0049	1	246	0.0041	24	c.225 others(39): Show c.225+110_225+111insTTTTTTTTTTTTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	366	0.0027	24	c.483 others(39): Show c.483+199_483+222dupTTTTTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	416	0.0024	24	c.-27 others(35): Show c.-2737_-2736insTATATATATATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706178	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	416	0.0024	24	c.-27 others(35): Show c.-2784_-2783insATATATATATATATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2734		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01346.hp1 others(7): Show HG00642.hp1 HG01243.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02155.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0001 a0003c0003t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0002	a0001c0001t0003g0195 a0001c0001t0003g0229 a0001c0001t0003g0230 others(7): Show a0001c0001t0003g0195 a0001c0001t0003g0229 a0001c0001t0003g0230 a0002c0002t0001g0336 a0002c0002t0001g0337 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0143 a0003c0003t0002g0147	10	406	0.0246	24	c.-1+ others(39): Show c.-1+7835_-1+7858dupTTTCTTTCTTTCTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	440	0.0023	24	c.-46 others(35): Show c.-4666_-4665insAAAAAAAAAAAAAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723305	T T	TTATCTAT others(17): Show TTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02615.hp1 HG02015.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0006 a0001c0002t0003 a0002c0003t0006	a0001c0002t0003g0056 a0002c0003t0006g0360 a0001c0002t0003g0056 a0002c0003t0006g0360	2	364	0.0055	24	c.783 others(41): Show c.783+2179_783+2202dupGATAGATAGATAGATAGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0013 a0005c0009t0013	a0005c0009t0013g0032 a0005c0009t0013g0032	1	364	0.0028	24	c.234 others(41): Show c.234+6787_234+6810dupTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01515.hp1 NA18961.hp2 HG01175.hp1 HG01515.hp1 NA18961.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0016 a0001c0001 a0003c0016	a0001c0001t0001 a0001c0001t0009 a0003c0016t0008 a0001c0001t0001 a0001c0001t0009 a0003c0016t0008	a0001c0001t0001g0090 a0001c0001t0009g0127 a0003c0016t0008g0085 a0001c0001t0001g0090 a0001c0001t0009g0127 a0003c0016t0008g0085	3	314	0.0096	24	c.-24 others(43): Show c.-242-1523_-242-1500dupGAAAGAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(17): Show AGGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03453.hp1 NA18974.hp1 HG01081.hp2 HG03453.hp1 NA18974.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0013 a0001c0001 a0002c0002 a0007c0013	a0001c0001t0005 a0002c0002t0002 a0007c0013t0021 a0001c0001t0005 a0002c0002t0002 a0007c0013t0021	a0001c0001t0005g0100 a0002c0002t0002g0063 a0007c0013t0021g0205 a0001c0001t0005g0100 a0002c0002t0002g0063 a0007c0013t0021g0205	3	314	0.0096	24	c.-24 others(43): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(17): Show AGGAAGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02965.hp1 NA18975.hp1 HG01255.hp1 HG02965.hp1 NA18975.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0018 a0001c0007t0001 a0005c0006t0006 a0001c0001t0018 a0001c0007t0001 a0005c0006t0006	a0001c0001t0018g0015 a0001c0007t0001g0070 a0005c0006t0006g0053 a0001c0001t0018g0015 a0001c0007t0001g0070 a0005c0006t0006g0053	3	314	0.0096	24	c.-24 others(43): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18950.hp1 HG02486.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0034 a0001c0001t0001 a0001c0007t0034	a0001c0001t0001g0189 a0001c0007t0034g0078 a0001c0001t0001g0189 a0001c0007t0034g0078	2	314	0.0064	24	c.-24 others(43): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(17): Show AGGAAGGTAGGAAGGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0150 a0003c0005t0015g0150	1	314	0.0032	24	c.-24 others(43): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(17): Show AGGTAGGAAGGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02622.hp2 HG00738.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0107 a0001c0001t0005g0148 a0001c0001t0003g0107 a0001c0001t0005g0148	2	314	0.0064	24	c.-24 others(43): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR1_chr22_30280117_30294505	30285808	T T	TCTGCCCC others(17): Show TCTGCCCCAGCCCTTGGTGCTCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(365): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0004g0007 a0001c0001t0005g0010 a0001c0001t0006g0019 a0001c0001t0007g0027 a0002c0002t0001g0018	368	424	0.8679	24	c.921 others(37): Show c.921+23_921+24insGGGGAGCACCAAGGGCTGGGGCAG	CASTOR1	ENSG00000239282.8	transcript	ENST00000407689.8	protein_coding	8/8			chr22	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01258.hp1 others(5): Show HG01069.hp2 HG01071.hp1 HG01258.hp1 HG01496.hp1 HG02074.hp2 HG02132.hp2 HG03927.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0035 a0001c0001t0055 others(3): Show a0001c0001t0012 a0001c0001t0035 a0001c0001t0055 a0001c0001t0056 a0001c0001t0064 a0001c0001t0076	a0001c0001t0012g0070 a0001c0001t0012g0072 a0001c0001t0035g0158 others(5): Show a0001c0001t0012g0070 a0001c0001t0012g0072 a0001c0001t0035g0158 a0001c0001t0035g0159 a0001c0001t0055g0127 a0001c0001t0056g0219 a0001c0001t0064g0089 a0001c0001t0076g0107	8	228	0.0351	24	c.-19 others(35): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(17): Show ACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0063 a0001c0001t0078g0063	1	228	0.0044	24	c.113 others(39): Show c.113+785_113+786insACACACACACTCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0197 a0001c0001t0041g0197	1	228	0.0044	24	c.14 others(35): Show c.1489_*1490insTTTTTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CASZ1_chr1_10631604_10801646	10700078	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0158 a0004c0005t0001g0158	1	236	0.0042	24	c.-24 others(41): Show c.-24+5413_-24+5414insGTGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp2 NA18962.hp2 others(3): Show HG02630.hp2 NA18522.hp2 NA18962.hp2 NA19012.hp1 NA19012.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0013 others(1): Show a0001c0001 a0001c0009 a0001c0013 a0003c0024	a0001c0001t0001 a0001c0001t0052 a0001c0009t0002 others(3): Show a0001c0001t0001 a0001c0001t0052 a0001c0009t0002 a0001c0013t0004 a0001c0013t0010 a0003c0024t0040	a0001c0001t0001g0092 a0001c0001t0052g0180 a0001c0009t0002g0049 others(3): Show a0001c0001t0001g0092 a0001c0001t0052g0180 a0001c0009t0002g0049 a0001c0013t0004g0104 a0001c0013t0010g0093 a0003c0024t0040g0166	6	236	0.0254	24	c.-24 others(41): Show c.-24+5388_-24+5411dupGTGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(17): Show CGGCACCACGAGCAGGCACGTCCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02818.hp2 HG02055.hp2 HG02451.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0029 a0001c0003 a0001c0004 a0002c0029	a0001c0003t0006 a0001c0004t0023 a0002c0029t0059 a0001c0003t0006 a0001c0004t0023 a0002c0029t0059	a0001c0003t0006g0054 a0001c0004t0023g0086 a0002c0029t0059g0140 a0001c0003t0006g0054 a0001c0004t0023g0086 a0002c0029t0059g0140	3	236	0.0127	24	c.-77 others(43): Show c.-77+16356_-77+16357insCAGGACGTGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar

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