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
COL4A2_chr13_110302284_110518209	110355657	T T	TGTACTAG others(20): Show TGTACTAGCTCACCTGTGTGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0004 a0003c0018t0004	a0003c0018t0004g0309 a0003c0018t0004g0309	1	372	0.0027	27	c.100 others(44): Show c.100-1814_100-1813insTACTAGCTCACCTGTGTGGGGGGAGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	344	0.0029	27	c.546 others(42): Show c.546+711_546+712insATATATATATATATATATATATATTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01074.hp2 HG01081.hp2	a0011 a0011	a0011c0012 a0011c0021 a0011c0012 a0011c0021	a0011c0012t0001 a0011c0021t0003 a0011c0012t0001 a0011c0021t0003	a0011c0012t0001g0189 a0011c0021t0003g0320 a0011c0012t0001g0189 a0011c0021t0003g0320	2	344	0.0058	27	c.546 others(42): Show c.546+711_546+712insATATATATATATATATTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(20): Show ATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0199 a0007c0006t0005g0199	1	344	0.0029	27	c.546 others(42): Show c.546+711_546+712insATATATTTTTTTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249231	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0015 a0001c0042t0015	a0001c0042t0015g0331 a0001c0042t0015g0331	1	344	0.0029	27	c.546 others(42): Show c.546+711_546+712insATATATATATATATATATATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0164 a0010c0014t0001g0164	1	344	0.0029	27	c.388 others(44): Show c.3883-358_3883-332dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041787	G G	GAAAGAAA others(20): Show GAAAGAAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0131 a0001c0001t0023g0131	1	284	0.0035	27	c.350 others(44): Show c.3505+360_3505+361insTTTCTTTCTTTCTTTCTTCCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0119 a0001c0001t0022g0119	1	284	0.0035	27	c.350 others(44): Show c.3505+299_3505+300insTTCTTCTCTCTCTCTCTCTCTCTCTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227046043	C C	CATATATA others(20): Show CATATATACTATCTAAATATATATACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02486.hp1 others(18): Show HG01884.hp2 HG02055.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA19043.hp1 NA19240.hp1	a0002 a0004 a0008 others(2): Show a0002 a0004 a0008 a0011 a0041	a0002c0002 a0002c0019 a0004c0004 others(7): Show a0002c0002 a0002c0019 a0004c0004 a0004c0040 a0004c0051 a0008c0008 a0008c0028 a0011c0012 a0011c0053 a0041c0029	a0002c0002t0011 a0002c0019t0005 a0004c0004t0002 others(11): Show a0002c0002t0011 a0002c0019t0005 a0004c0004t0002 a0004c0004t0005 a0004c0004t0020 a0004c0004t0037 a0004c0040t0002 a0004c0051t0005 a0008c0008t0004 a0008c0008t0009 a0008c0028t0034 a0011c0012t0006 a0011c0053t0015 a0041c0029t0004	a0002c0002t0011g0222 a0002c0019t0005g0029 a0002c0019t0005g0166 others(18): Show a0002c0002t0011g0222 a0002c0019t0005g0029 a0002c0019t0005g0166 a0004c0004t0002g0147 a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0020g0217 a0004c0004t0037g0062 a0004c0040t0002g0035 a0004c0051t0005g0023 a0008c0008t0004g0027 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0009g0165 a0008c0008t0009g0271 a0008c0028t0034g0160 a0011c0012t0006g0032 a0011c0012t0006g0256 a0011c0012t0006g0257 a0011c0053t0015g0152 a0041c0029t0004g0026	21	284	0.0739	27	c.328 others(46): Show c.3289+1431_3289+1432insATGTATATATATTTAGATAGTATATA T	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227046043	C C	CATATATA others(20): Show CATATATACTATCTAAATATATATACGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(134): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0006 a0007 a0012 a0014 a0017 a0018 a0019 a0023 a0024 a0029 a0030 a0031 a0032 a0038 a0039 a0043	a0002c0002 a0002c0021 a0002c0058 others(27): Show a0002c0002 a0002c0021 a0002c0058 a0002c0059 a0002c0060 a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0004c0004 a0006c0005 a0006c0035 a0007c0006 a0007c0031 a0012c0011 a0014c0020 a0014c0052 a0017c0022 a0018c0023 a0019c0025 a0023c0039 a0024c0069 a0029c0063 a0030c0062 a0031c0061 a0032c0057 a0038c0038 a0039c0067 a0043c0036	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(38): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0026 a0002c0002t0027 a0002c0021t0002 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0003c0003t0003 a0003c0003t0030 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0004c0004t0002 a0006c0005t0004 a0006c0005t0009 a0006c0005t0013 a0006c0035t0036 a0007c0006t0004 a0007c0006t0035 a0007c0031t0004 a0012c0011t0003 a0014c0020t0001 a0014c0020t0003 a0014c0052t0003 a0017c0022t0003 a0018c0023t0002 a0019c0025t0002 a0023c0039t0007 a0024c0069t0002 a0029c0063t0003 a0030c0062t0003 a0031c0061t0002 a0032c0057t0002 a0038c0038t0005 a0039c0067t0028 a0043c0036t0038	a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 others(134): Show a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0140 a0002c0002t0002g0151 a0002c0002t0002g0177 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0236 a0002c0002t0002g0239 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0007g0049 a0002c0002t0007g0184 a0002c0002t0007g0225 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0021t0002g0245 a0002c0021t0002g0246 a0002c0058t0005g0214 a0002c0059t0025g0037 a0002c0060t0002g0252 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0057 a0003c0003t0003g0071 a0003c0003t0003g0076 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0116 a0003c0003t0003g0118 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0228 a0003c0003t0003g0241 a0003c0003t0003g0269 a0003c0003t0030g0169 a0003c0003t0031g0250 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0026t0001g0230 a0003c0027t0003g0096 a0003c0027t0003g0133 a0003c0073t0003g0018 a0004c0004t0002g0042 a0004c0004t0002g0075 a0004c0004t0002g0095 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0202 a0004c0004t0002g0218 a0004c0004t0002g0260 a0006c0005t0004g0148 a0006c0005t0004g0156 a0006c0005t0004g0158 a0006c0005t0004g0191 a0006c0005t0004g0193 a0006c0005t0004g0195 a0006c0005t0009g0283 a0006c0005t0013g0154 a0006c0035t0036g0270 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0175 a0007c0006t0004g0176 a0007c0006t0004g0181 a0007c0006t0035g0163 a0007c0031t0004g0170 a0012c0011t0003g0138 a0012c0011t0003g0219 a0012c0011t0003g0231 a0012c0011t0003g0233 a0014c0020t0001g0007 a0014c0020t0003g0103 a0014c0052t0003g0089 a0017c0022t0003g0254 a0017c0022t0003g0255 a0018c0023t0002g0052 a0018c0023t0002g0127 a0019c0025t0002g0198 a0019c0025t0002g0261 a0023c0039t0007g0012 a0024c0069t0002g0015 a0029c0063t0003g0082 a0030c0062t0003g0265 a0031c0061t0002g0021 a0032c0057t0002g0220 a0038c0038t0005g0024 a0039c0067t0028g0235 a0043c0036t0038g0153	137	284	0.4824	27	c.328 others(46): Show c.3289+1431_3289+1432insACGTATATATATTTAGATAGTATATA T	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227138133	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0169 a0003c0003t0030g0169	1	284	0.0035	27	c.192 others(44): Show c.192+2027_192+2028insATTATTATTATTATTATTATTATTATT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	4/47			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0072 a0001c0019t0001g0072	1	248	0.0040	27	c.208 others(44): Show c.2086-693_2086-692insAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp2 NA18940.hp2 others(3): Show HG03704.hp1 HG04199.hp2 NA18940.hp2 NA18951.hp2 NA19063.hp1 NA19081.hp2	a0001 a0004 a0075 a0001 a0004 a0075	a0001c0040 a0004c0010 a0004c0013 others(1): Show a0001c0040 a0004c0010 a0004c0013 a0075c0091	a0001c0040t0005 a0004c0010t0004 a0004c0013t0004 others(1): Show a0001c0040t0005 a0004c0010t0004 a0004c0013t0004 a0075c0091t0004	a0001c0040t0005g0158 a0004c0010t0004g0033 a0004c0010t0004g0161 others(3): Show a0001c0040t0005g0158 a0004c0010t0004g0033 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0013t0004g0083 a0075c0091t0004g0014	6	412	0.0146	27	c.214 others(44): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A2_chr21_46093112_46137848	46135384	C C	CCCTCACA others(20): Show CCCTCACAAATGTCTCCTCCCTCACGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	364	0.0028	27	c.28 others(38): Show c.2832_*2833insCCTCACAAATGTCTCCTCCCTCACGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2537		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135850	C C	CCCCAGCC others(20): Show CCCCAGCCTCCCCTCCCCAGCGTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0165 a0001c0006t0001g0165	1	364	0.0028	27	c.32 others(38): Show c.3298_*3299insCCCAGCCTCCCCTCCCCAGCGTTCCCT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3003		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(20): Show ATATATATATATATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01261.hp1 others(7): Show HG01099.hp2 HG01106.hp2 HG01261.hp1 HG01517.hp1 HG02165.hp2 HG04199.hp1 HG04204.hp1 NA19011.hp1 NA19064.hp1 NA19083.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0001c0059 a0001c0117 others(2): Show a0001c0002 a0001c0059 a0001c0117 a0015c0036 a0015c0085	a0001c0002t0001 a0001c0002t0002 a0001c0059t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0059t0004 a0001c0117t0001 a0015c0036t0001 a0015c0085t0001	a0001c0002t0001g0088 a0001c0002t0002g0043 a0001c0002t0002g0201 others(7): Show a0001c0002t0001g0088 a0001c0002t0002g0043 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0261 a0001c0002t0002g0281 a0001c0059t0004g0222 a0001c0117t0001g0127 a0015c0036t0001g0154 a0015c0085t0001g0037	10	322	0.0311	27	c.932 others(46): Show c.9328+1332_9328+1333insCATATATATAATATATATATATATAT A	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130637013	C C	CTCCCCTT others(20): Show CTCCCCTTCCTCTCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0001 a0013c0075t0001	a0013c0075t0001g0185 a0013c0075t0001g0185	1	264	0.0038	27	c.509 others(46): Show c.5091+1255_5091+1256insCCTTCCTCTCCCTCCCCCTCCCCTTC C	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637013	C C	CTCCCTTT others(20): Show CTCCCTTTCCTCTCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show HG00735.hp2 HG02109.hp1 HG02622.hp2 HG03098.hp1	a0008 a0019 a0028 a0008 a0019 a0028	a0008c0006 a0019c0021 a0028c0042 a0008c0006 a0019c0021 a0028c0042	a0008c0006t0001 a0019c0021t0003 a0019c0021t0005 others(1): Show a0008c0006t0001 a0019c0021t0003 a0019c0021t0005 a0028c0042t0003	a0008c0006t0001g0032 a0019c0021t0003g0198 a0019c0021t0005g0030 others(1): Show a0008c0006t0001g0032 a0019c0021t0003g0198 a0019c0021t0005g0030 a0028c0042t0003g0118	4	264	0.0152	27	c.509 others(46): Show c.5091+1255_5091+1256insCTTTCCTCTCCCTCCCCCTCCCCTTC C	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(20): Show GTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01978.hp2 others(4): Show HG00544.hp1 HG00558.hp2 HG01978.hp2 HG04228.hp1 NA18964.hp2 NA19063.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0120 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0120 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0030g0072	7	262	0.0267	27	c.-3- others(44): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(20): Show GTATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01071.hp2 others(9): Show HG00280.hp2 HG00639.hp2 HG01071.hp2 HG01081.hp2 HG01346.hp1 HG01952.hp1 HG02630.hp1 HG02683.hp2 NA19001.hp2 NA19011.hp2 NA19054.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 others(9): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0005g0028 a0001c0001t0009g0083	12	262	0.0458	27	c.-3- others(44): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(20): Show ATATTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	262	0.0038	27	c.-3- others(44): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36127746	A A	ACCAGCCA others(20): Show ACCAGCCACATGCCATTGGGCAAACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	390	0.0026	27	c.-27 others(38): Show c.-2752_-2751insAGTGTTTGCCCAATGGCATGTGGCTGG	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding		2525		chr1	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01978.hp1 HG02083.hp1 others(8): Show HG01123.hp1 HG01978.hp1 HG02083.hp1 HG02165.hp1 NA18949.hp2 NA18955.hp1 NA19010.hp1 NA19057.hp2 NA19080.hp1 NA19088.hp1 NA19090.hp1	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0006 a0003c0013 a0004c0007 others(2): Show a0003c0006 a0003c0013 a0004c0007 a0004c0009 a0007c0014	a0003c0006t0003 a0003c0013t0003 a0004c0007t0001 others(2): Show a0003c0006t0003 a0003c0013t0003 a0004c0007t0001 a0004c0009t0001 a0007c0014t0001	a0003c0006t0003g0072 a0003c0006t0003g0236 a0003c0013t0003g0198 others(8): Show a0003c0006t0003g0072 a0003c0006t0003g0236 a0003c0013t0003g0198 a0003c0013t0003g0199 a0003c0013t0003g0311 a0004c0007t0001g0017 a0004c0007t0001g0028 a0004c0007t0001g0128 a0004c0007t0001g0308 a0004c0009t0001g0211 a0007c0014t0001g0225	11	362	0.0304	27	c.250 others(46): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT T	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	438	0.0023	27	c.-11 others(38): Show c.-1118_-1117insATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA19067.hp1 HG03942.hp2 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0014 a0002c0002t0001g0005 a0002c0002t0001g0014	2	438	0.0046	27	c.-11 others(38): Show c.-1118_-1117insAAATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA18946.hp1 NA18947.hp2 others(1): Show HG00609.hp1 NA18946.hp1 NA18947.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0006g0120	4	438	0.0091	27	c.-11 others(38): Show c.-1118_-1117insAAAAAAATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(20): Show ATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	438	0.0023	27	c.-11 others(38): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318315	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18949.hp1 NA18993.hp2 HG00597.hp1 NA18949.hp1 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0127 a0002c0002t0001g0015 a0002c0002t0001g0127	3	438	0.0069	27	c.-11 others(38): Show c.-1119_-1118insTATATATATATATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1030		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(20): Show AATTATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	27	c.-39 others(38): Show c.-3926_-3925insATATATATATATATATATATATATAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	388	0.0026	27	c.148 others(44): Show c.148+2201_148+2202insAAAAAAAAATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	388	0.0026	27	c.148 others(44): Show c.148+2201_148+2202insAAAAAAATATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0222 a0001c0001t0007g0222	1	340	0.0029	27	c.374 others(42): Show c.374+605_374+606insCTCTCTCTCTCTCTCTCTCTCTCTCTC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COP1_chr1_175939831_176212286	175951462	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	300	0.0033	27	c.213 others(46): Show c.2134-4224_2134-4223insATATATATATATATATATATATATAT A	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COPS4_chr4_83030183_83080818	83080696	C C	CTCTCTAG others(20): Show CTCTCTAGAGAACCCTGACTAATACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	372	0.0027	27	c.52 others(38): Show c.5266_*5267insTCTCTAGAGAACCCTGACTAATACAGA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		4879		chr4	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0057 a0002c0003t0002g0057	1	372	0.0027	27	c.576 others(42): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CORIN_chr4_47589001_47843067	47632757	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0106 a0006c0009t0001g0106	1	264	0.0038	27	c.219 others(46): Show c.2199-6237_2199-6236insATCTATCTATCTATCTATCTATCTAT C	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	16/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98119802	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	342	0.0029	27	c.49 others(38): Show c.4971_*4972insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1172		chr9	TogoVar
COTL1_chr16_84560596_84623078	84618683	C C	CCTGGCAT others(20): Show CCTGGCATCTCCTCCCTCCCTGTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	440	0.0023	27	c.-77 others(36): Show c.-770_-769insAGGGGACAGGGAGGGAGGAGATGCCAG	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding		606		chr16	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18962.hp1 NA18971.hp2 others(1): Show NA18961.hp1 NA18962.hp1 NA18971.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0003g0006 a0001c0001t0003g0018	4	406	0.0099	27	c.-30 others(38): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	300	0.0033	27	c.-10 others(46): Show c.-105+1311_-105+1312insAAAAAAAAAAAAAAAAAAAAAAAAAA A	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02559.hp2 others(6): Show HG01070.hp2 HG01071.hp2 HG02559.hp2 HG02615.hp2 HG02818.hp2 HG02976.hp1 HG03130.hp2 HG03540.hp1 NA18906.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0009 a0008c0008 a0001c0001 a0006c0009 a0008c0008	a0001c0001t0001 a0001c0001t0004 a0006c0009t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0006c0009t0004 a0008c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0004g0094 a0006c0009t0004g0111 a0008c0008t0001g0124	9	144	0.0625	27	c.839 others(46): Show c.839-14400_839-14399insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPB1_chr3_148822811_148865187	148849012	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19063.hp1 NA19085.hp1 HG01517.hp2 NA19063.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0012 a0001c0001t0001g0061	3	456	0.0066	27	c.981 others(44): Show c.981+3410_981+3411insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPD_chr17_30373927_30474989	30381703	T T	TGGAATAT others(20): Show TGGAATATTGAGTGCCTAAATATAGCAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	296	0.0034	27	c.746 others(44): Show c.746+1977_746+1978insGGAATATTGAGTGCCTAAATATAGCAC	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding	1/20			chr17	TogoVar
CPEB3_chr10_92041692_92296078	92095601	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02622.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0150 a0001c0002t0007g0081 a0001c0001t0007g0150 a0001c0002t0007g0081	2	278	0.0072	27	c.157 others(46): Show c.1573-3658_1573-3657insTATATATATATATATATATATATATA T	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAACAAGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02055.hp1 HG03942.hp1 HG00140.hp2 HG02055.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0002g0125 a0001c0001t0003g0232 a0001c0002t0003g0091 a0001c0001t0002g0125 a0001c0001t0003g0232 a0001c0002t0003g0091	3	278	0.0108	27	c.145 others(46): Show c.1454-8905_1454-8904insTGCTTGTTTTTTTTTTTTTTTTTTTT T	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAACAAGCAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01175.hp2 others(18): Show HG00423.hp1 HG00639.hp1 HG01175.hp2 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA18968.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007	a0001c0001t0002g0129 a0001c0001t0003g0104 a0001c0001t0003g0105 others(18): Show a0001c0001t0002g0129 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0130 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0208 a0001c0001t0011g0217 a0001c0001t0011g0265 a0001c0001t0015g0211 a0001c0001t0019g0243 a0001c0001t0019g0244 a0001c0002t0001g0092 a0001c0002t0003g0048 a0001c0002t0003g0062 a0001c0002t0003g0089 a0001c0002t0007g0099	21	278	0.0755	27	c.145 others(46): Show c.1454-8905_1454-8904insTTGCTTGTTTTTTTTTTTTTTTTTTT T	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAACAAGCAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp2 NA19240.hp2 HG02615.hp1 HG02965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0004t0011 a0001c0001t0002 a0001c0001t0005 a0001c0004t0011	a0001c0001t0002g0262 a0001c0001t0005g0259 a0001c0004t0011g0264 a0001c0001t0002g0262 a0001c0001t0005g0259 a0001c0004t0011g0264	3	278	0.0108	27	c.145 others(46): Show c.1454-8905_1454-8904insTTTGCTTGTTTTTTTTTTTTTTTTTT T	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04184.hp2 HG03710.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0137 a0002c0002t0011g0136 a0002c0002t0002g0137 a0002c0002t0011g0136	2	140	0.0143	27	c.617 others(44): Show c.617-8933_617-8907dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199689	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	140	0.0071	27	c.205 others(48): Show c.2056-37023_2056-37022insGAAAGAAAGAAAGAAAGAAAGAAA GAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121256135	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0050	1	140	0.0071	27	c.231 others(48): Show c.2311-10086_2311-10085insAAAAAAAAAAAAAAAAAAAACAAA AAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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