Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
COL26A1_chr7_101357875_101564024	101492699	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	174	0.0058	-28	c.386 others(47): Show c.386-40360_386-40333delATAAATAAATAAATAAATAAATAAAT AA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7497082	AAAGGAAG others(21): Show AAAGGAAGGAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0015 a0015	a0015c0052 a0015c0052	a0015c0052t0003 a0015c0052t0003	a0015c0052t0003g0191 a0015c0052t0003g0191	1	196	0.0051	-28	c.102 others(47): Show c.1027-6464_1027-6437delCCTTCCTTCCTTCCTTTCTTCCTTCC TT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	11/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008113	GAGAGAGA others(21): Show GAGAGAGAGAGAAAGAAAGAAAGGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG02083.hp2 others(3): Show HG00323.hp1 HG00408.hp2 HG02083.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0004c0017 a0001c0002 a0004c0010 a0004c0017	a0001c0002t0001 a0004c0010t0001 a0004c0017t0001 a0001c0002t0001 a0004c0010t0001 a0004c0017t0001	a0001c0002t0001g0039 a0001c0002t0001g0165 a0001c0002t0001g0174 others(2): Show a0001c0002t0001g0039 a0001c0002t0001g0165 a0001c0002t0001g0174 a0004c0010t0001g0163 a0004c0017t0001g0173	6	414	0.0145	-28	c.-38 others(39): Show c.-3820_-3793delTTCTTCCTTTCTTTCTTTCTCTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3638		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008117	GAGAGAGA others(21): Show GAGAGAGAAAGAAAGAAAGGAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0034 a0003c0019t0001g0034	1	414	0.0024	-28	c.-38 others(39): Show c.-3824_-3797delTTCTTTCTTCCTTTCTTTCTTTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3642		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188997016	TATATATA others(21): Show TATATATATGAGACATATATATATGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	376	0.0027	-28	c.176 others(45): Show c.1762-140_1762-113delGAGACATATATATATGAGACATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007161	TGATAGAT others(21): Show TGATAGATAGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp2 NA19030.hp2 HG01069.hp2 HG02451.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0094 a0001c0003t0002g0234 a0001c0003t0002g0240 a0001c0001t0001g0094 a0001c0003t0002g0234 a0001c0003t0002g0240	3	376	0.0080	-28	c.325 others(45): Show c.3255+194_3255+221delTAGATAGATAGATAGATAGATAGATAGA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202982	CATATGTG others(21): Show CATATGTGTATATATGTGTATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18999.hp2 HG03669.hp1 NA18999.hp2	a0002 a0007 a0002 a0007	a0002c0007 a0007c0006 a0002c0007 a0007c0006	a0002c0007t0001 a0007c0006t0005 a0002c0007t0001 a0007c0006t0005	a0002c0007t0001g0310 a0007c0006t0005g0133 a0002c0007t0001g0310 a0007c0006t0005g0133	2	344	0.0058	-28	c.88- others(45): Show c.88-34905_88-34878delACATATATGTGTATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203074	TATATATG others(21): Show TATATATGTGTATATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG01070.hp1 others(3): Show HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0004c0003 a0005c0020 others(1): Show a0001c0001 a0004c0003 a0005c0020 a0011c0012	a0001c0001t0002 a0004c0003t0004 a0005c0020t0002 others(1): Show a0001c0001t0002 a0004c0003t0004 a0005c0020t0002 a0011c0012t0001	a0001c0001t0002g0144 a0004c0003t0004g0296 a0005c0020t0002g0078 others(3): Show a0001c0001t0002g0144 a0004c0003t0004g0296 a0005c0020t0002g0078 a0005c0020t0002g0079 a0011c0012t0001g0189 a0011c0012t0001g0190	6	344	0.0174	-28	c.88- others(45): Show c.88-34813_88-34786delATACATATATGTGTATATATGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203302	TATGTGTA others(21): Show TATGTGTATATATACATATATGTGTATAC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18953.hp2 NA19079.hp1 NA18747.hp2 NA18953.hp2 NA19079.hp1	a0002 a0009 a0015 a0002 a0009 a0015	a0002c0004 a0009c0008 a0015c0025 a0002c0004 a0009c0008 a0015c0025	a0002c0004t0003 a0009c0008t0001 a0015c0025t0003 a0002c0004t0003 a0009c0008t0001 a0015c0025t0003	a0002c0004t0003g0259 a0009c0008t0001g0110 a0015c0025t0003g0206 a0002c0004t0003g0259 a0009c0008t0001g0110 a0015c0025t0003g0206	3	344	0.0087	-28	c.88- others(45): Show c.88-34663_88-34636delGTGTATATATACATATATGTGTATACAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203330	CATACATA others(21): Show CATACATATATGTGTATATATGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0311 a0002c0007t0001g0311	1	344	0.0029	-28	c.88- others(45): Show c.88-34620_88-34593delTATGTGTATATATACATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041767	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	284	0.0035	-28	c.350 others(45): Show c.3505+353_3505+380delTTTCTTTCCCTTCCTTCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041771	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp2 NA18965.hp1 others(2): Show HG01175.hp1 HG01884.hp2 NA18965.hp1 NA19002.hp1 NA19091.hp2	a0002 a0004 a0023 a0002 a0004 a0023	a0002c0002 a0004c0040 a0023c0039 a0002c0002 a0004c0040 a0023c0039	a0002c0002t0002 a0004c0040t0002 a0023c0039t0007 a0002c0002t0002 a0004c0040t0002 a0023c0039t0007	a0002c0002t0002g0008 a0002c0002t0002g0047 a0002c0002t0002g0185 others(2): Show a0002c0002t0002g0008 a0002c0002t0002g0047 a0002c0002t0002g0185 a0004c0040t0002g0035 a0023c0039t0007g0012	5	284	0.0176	-28	c.350 others(45): Show c.3505+349_3505+376delTTTCTTTCTTTCCCTTCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041775	GAAGGAAG others(21): Show GAAGGAAGGAAGGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0218 a0004c0004t0002g0218	1	284	0.0035	-28	c.350 others(45): Show c.3505+345_3505+372delTTTCTTTCTTTCTTTCCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041783	GAAGGGAA others(21): Show GAAGGGAAAGAAAGAAAGAAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0090	1	284	0.0035	-28	c.350 others(45): Show c.3505+337_3505+364delTTTCTTCCTTTCTTTCTTTCTTTCCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526589	CTCCCTCC others(21): Show CTCCCTCCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03491.hp1 HG03492.hp1 others(3): Show HG02083.hp1 HG03491.hp1 HG03492.hp1 NA19068.hp1 NA19085.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0022 others(3): Show a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0034	6	269	0.0223	-28	c.82- others(45): Show c.82-13155_82-13128delCCCTCCTTTCTTTCTTTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108169208	TCTGACCA others(21): Show TCTGACCAAGCATGCCAGAGAGGCTTGAG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	234	0.0043	-28	c.369 others(45): Show c.3691+259_3691+286delCTCAAGCCTCTCTGGCATGCTTGGTCAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	37/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134808544	TACATGTT others(21): Show TACATGTTGGTGCATATTCACACGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0047 a0001c0004 a0001c0016 a0001c0047	a0001c0004t0004 a0001c0016t0012 a0001c0047t0003 a0001c0004t0004 a0001c0016t0012 a0001c0047t0003	a0001c0004t0004g0224 a0001c0016t0012g0021 a0001c0047t0003g0032 a0001c0004t0004g0224 a0001c0016t0012g0021 a0001c0047t0003g0032	3	272	0.0110	-28	c.336 others(45): Show c.3367-605_3367-578delTTGGTGCATATTCACACGTGTGCACATG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	42/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0298 a0001c0003t0001g0298	1	412	0.0024	-28	c.240 others(47): Show c.2407-1439_2407-1412delTCTTTCTTTCTTTCTTTCTTTCTTTC TT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983578	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00673.hp2 others(11): Show HG00408.hp2 HG00423.hp2 HG00673.hp2 NA18940.hp2 NA18951.hp2 NA18969.hp2 NA18972.hp1 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1 NA19081.hp2 NA19087.hp2	a0001 a0004 a0045 a0001 a0004 a0045	a0001c0040 a0004c0010 a0004c0013 others(1): Show a0001c0040 a0004c0010 a0004c0013 a0045c0071	a0001c0040t0005 a0004c0010t0001 a0004c0010t0004 others(3): Show a0001c0040t0005 a0004c0010t0001 a0004c0010t0004 a0004c0013t0004 a0004c0013t0019 a0045c0071t0004	a0001c0040t0005g0127 a0001c0040t0005g0158 a0004c0010t0001g0267 others(11): Show a0001c0040t0005g0127 a0001c0040t0005g0158 a0004c0010t0001g0267 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0019g0097 a0045c0071t0004g0155	14	412	0.0340	-28	c.240 others(47): Show c.2407-1488_2407-1461delCTTTCTCTTTCTTTCTTTCTTTCTTT CT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00639.hp2 others(76): Show HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA19010.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(23): Show a0001 a0002 a0005 a0006 a0009 a0010 a0012 a0013 a0015 a0016 a0021 a0022 a0026 a0028 a0029 a0034 a0035 a0048 a0059 a0063 a0066 a0067 a0068 a0071 a0074 a0076	a0001c0016 a0001c0045 a0001c0089 others(37): Show a0001c0016 a0001c0045 a0001c0089 a0001c0117 a0001c0142 a0002c0053 a0002c0083 a0005c0070 a0006c0022 a0009c0007 a0009c0048 a0010c0015 a0010c0044 a0010c0119 a0012c0087 a0013c0008 a0015c0050 a0015c0104 a0016c0036 a0016c0037 a0016c0074 a0016c0107 a0021c0038 a0021c0066 a0022c0030 a0026c0056 a0026c0086 a0028c0105 a0029c0088 a0034c0131 a0035c0047 a0048c0137 a0059c0090 a0063c0134 a0066c0106 a0067c0100 a0068c0101 a0071c0095 a0074c0094 a0076c0143	a0001c0016t0001 a0001c0045t0001 a0001c0045t0002 others(47): Show a0001c0016t0001 a0001c0045t0001 a0001c0045t0002 a0001c0089t0001 a0001c0117t0005 a0001c0142t0001 a0002c0053t0001 a0002c0083t0005 a0005c0070t0002 a0006c0022t0007 a0006c0022t0011 a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0119t0002 a0012c0087t0001 a0013c0008t0001 a0015c0050t0001 a0015c0050t0005 a0015c0104t0003 a0016c0036t0001 a0016c0036t0002 a0016c0037t0002 a0016c0074t0002 a0016c0107t0002 a0021c0038t0001 a0021c0066t0003 a0022c0030t0002 a0026c0056t0002 a0026c0086t0002 a0028c0105t0003 a0029c0088t0002 a0034c0131t0001 a0035c0047t0001 a0048c0137t0002 a0059c0090t0003 a0063c0134t0001 a0066c0106t0002 a0067c0100t0001 a0068c0101t0004 a0071c0095t0002 a0074c0094t0001 a0076c0143t0010	a0001c0016t0001g0233 a0001c0045t0001g0140 a0001c0045t0002g0032 others(76): Show a0001c0016t0001g0233 a0001c0045t0001g0140 a0001c0045t0002g0032 a0001c0089t0001g0225 a0001c0117t0005g0248 a0001c0142t0001g0284 a0002c0053t0001g0344 a0002c0053t0001g0382 a0002c0083t0005g0156 a0005c0070t0002g0265 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0009c0007t0001g0229 a0009c0007t0001g0231 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0009c0048t0001g0234 a0009c0048t0001g0238 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0010c0044t0002g0268 a0010c0044t0021g0340 a0010c0119t0002g0397 a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0015c0050t0001g0145 a0015c0050t0005g0222 a0015c0104t0003g0241 a0016c0036t0001g0236 a0016c0036t0001g0237 a0016c0036t0002g0148 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134 a0016c0107t0002g0235 a0021c0038t0001g0108 a0021c0038t0001g0111 a0021c0066t0003g0295 a0022c0030t0002g0293 a0022c0030t0002g0294 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0028c0105t0003g0223 a0029c0088t0002g0255 a0034c0131t0001g0292 a0035c0047t0001g0275 a0035c0047t0001g0276 a0048c0137t0002g0060 a0059c0090t0003g0126 a0063c0134t0001g0304 a0066c0106t0002g0043 a0067c0100t0001g0038 a0068c0101t0004g0039 a0071c0095t0002g0036 a0074c0094t0001g0028 a0076c0143t0010g0409	79	412	0.1918	-28	c.158 others(45): Show c.1588-781_1588-754delATATATATATATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL6A2_chr21_46093112_46134801	46123738	TGATGGAT others(21): Show TGATGGATGGCTGAATGGATGAGTGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show HG00423.hp2 HG00597.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG03239.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0003c0033 a0001c0002 a0003c0007 a0003c0033	a0001c0002t0007 a0003c0007t0001 a0003c0007t0007 others(1): Show a0001c0002t0007 a0003c0007t0001 a0003c0007t0007 a0003c0033t0007	a0001c0002t0007g0201 a0003c0007t0001g0204 a0003c0007t0007g0013 others(10): Show a0001c0002t0007g0201 a0003c0007t0001g0204 a0003c0007t0007g0013 a0003c0007t0007g0042 a0003c0007t0007g0043 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0196 a0003c0007t0007g0197 a0003c0007t0007g0203 a0003c0007t0007g0205 a0003c0007t0007g0206 a0003c0033t0007g0202	14	372	0.0376	-28	c.167 others(45): Show c.1671+811_1671+838delCTGAATGGATGAGTGGGGGGATGGATGG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123738	TGATGGAT others(21): Show TGATGGATGGCTGAATGGATGAGTGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show HG00423.hp2 HG00597.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG03239.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0044 a0003c0008 a0003c0016 others(2): Show a0001c0044 a0003c0008 a0003c0016 a0003c0054 a0008c0027	a0001c0044t0003 a0003c0008t0003 a0003c0016t0001 others(2): Show a0001c0044t0003 a0003c0008t0003 a0003c0016t0001 a0003c0054t0003 a0008c0027t0003	a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 others(10): Show a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0016t0001g0200 a0003c0054t0003g0198 a0008c0027t0003g0013	14	364	0.0385	-28	c.167 others(45): Show c.1671+811_1671+838delCTGAATGGATGAGTGGGGGGATGGATGG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG01943.hp1 others(2): Show HG00738.hp1 HG01255.hp1 HG01943.hp1 NA20129.hp1 NA21309.hp1	a0008 a0048 a0008 a0048	a0008c0010 a0008c0094 a0048c0081 a0008c0010 a0008c0094 a0048c0081	a0008c0010t0001 a0008c0010t0002 a0008c0094t0001 others(1): Show a0008c0010t0001 a0008c0010t0002 a0008c0094t0001 a0048c0081t0002	a0008c0010t0001g0089 a0008c0010t0001g0217 a0008c0010t0002g0042 others(2): Show a0008c0010t0001g0089 a0008c0010t0001g0217 a0008c0010t0002g0042 a0008c0094t0001g0271 a0048c0081t0002g0096	5	322	0.0155	-28	c.766 others(45): Show c.7668+808_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362312	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA21309.hp1 HG01109.hp2 NA21309.hp1	a0078 a0079 a0078 a0079	a0078c0062 a0079c0063 a0078c0062 a0079c0063	a0078c0062t0003 a0079c0063t0003 a0078c0062t0003 a0079c0063t0003	a0078c0062t0003g0216 a0079c0063t0003g0215 a0078c0062t0003g0216 a0079c0063t0003g0215	2	292	0.0069	-28	c.-28 others(47): Show c.-28-11297_-28-11270delATATATATATATATTTTTTTTTTTTT TT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531039	GACACACA others(21): Show GACACACACACACACACACACAGTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0027 a0027	a0027c0041 a0027c0041	a0027c0041t0001 a0027c0041t0001	a0027c0041t0001g0021 a0027c0041t0001g0021	1	264	0.0038	-28	c.-32 others(47): Show c.-32+13643_-32+13670delACACACACACACACACACACAGTCTC TC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL9A3_chr20_62812050_62846159	62834437	CAGTCGTG others(21): Show CAGTCGTGAGTCCGAGGGAAGGACGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02886.hp1 HG03225.hp2 others(2): Show HG01106.hp1 HG02886.hp1 HG03225.hp2 HG03579.hp2 NA20129.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0009 a0003c0022 others(1): Show a0001c0001 a0003c0009 a0003c0022 a0009c0042	a0001c0001t0001 a0003c0009t0001 a0003c0022t0002 others(1): Show a0001c0001t0001 a0003c0009t0001 a0003c0022t0002 a0009c0042t0001	a0001c0001t0001g0231 a0003c0009t0001g0094 a0003c0009t0001g0095 others(2): Show a0001c0001t0001g0231 a0003c0009t0001g0094 a0003c0009t0001g0095 a0003c0022t0002g0096 a0009c0042t0001g0063	5	412	0.0121	-28	c.136 others(47): Show c.1368+1374_1368+1401delAGTCGTGAGTCCGAGGGAAGGACGGC CT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	26/31			chr20	TogoVar
COLGALT1_chr19_17550649_17588157	17584666	GGATTTTC others(21): Show GGATTTTCTGGGTCAAATGCTTACAAATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	396	0.0025	-28	c.32 others(39): Show c.3223_*3250delGATTTTCTGGGTCAAATGCTTACAAATC	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		1510		chr19	TogoVar
COMMD10_chr5_116080025_116298287	116172531	ATCTACCC others(21): Show ATCTACCCTAGGTCGGAAATATTTAAGTG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	350	0.0029	-28	c.510 others(47): Show c.510+38355_510+38382delCTACCCTAGGTCGGAAATATTTAAGT GT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COP1_chr1_175939831_176212286	176151333	AAGAAGGA others(21): Show AAGAAGGAAGGAAAGAAAGAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18995.hp1 NA18747.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0008 a0001c0002t0002g0009	2	300	0.0067	-28	c.763 others(45): Show c.763-2287_763-2260delCTTTCTTTTTCTTTCTTTCCTTCCTTCT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176151337	AGGAAGGA others(21): Show AGGAAGGAAAGAAAGAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	300	0.0033	-28	c.763 others(45): Show c.763-2291_763-2264delCTTTCTTTCTTTTTCTTTCTTTCCTTCC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176151353	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01106.hp1 others(6): Show HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01261.hp1 HG02074.hp1 HG02135.hp1 NA18747.hp2 NA18993.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125	9	300	0.0300	-28	c.763 others(45): Show c.763-2307_763-2280delCTTTCTTTCTTTCTTTCTTTCTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COPG2_chr7_130501238_130673748	130513331	ATATATAT others(21): Show ATATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0235 a0001c0002t0007g0235	1	326	0.0031	-28	c.215 others(47): Show c.2150-4700_2150-4673delCACACACACACACACACATATATATA TA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513347	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02818.hp1 HG00558.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0193 a0001c0002t0007g0239 a0001c0001t0002g0193 a0001c0002t0007g0239	2	326	0.0061	-28	c.215 others(47): Show c.2150-4716_2150-4689delTATATATATATATATACACACACACA CA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130646958	CATATATA others(21): Show CATATATATATGTGTATATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(149): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0003c0008 a0005c0010 a0006c0007 a0008c0013 a0009c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0005t0002 a0003c0008t0001 a0005c0010t0001 a0006c0007t0001 a0008c0013t0001 a0009c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(149): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0009g0252 a0001c0001t0009g0256 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0002g0088 a0001c0002t0003g0068 a0001c0002t0003g0080 a0001c0002t0003g0087 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0117 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0261 a0001c0002t0004g0056 a0001c0002t0004g0081 a0001c0002t0004g0083 a0001c0002t0004g0100 a0001c0002t0005g0076 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0005t0002g0010 a0001c0005t0002g0011 a0003c0008t0001g0114 a0005c0010t0001g0147 a0006c0007t0001g0095 a0008c0013t0001g0067 a0009c0014t0001g0089	152	326	0.4663	-28	c.323 others(45): Show c.323+5883_323+5910delATACATATATATATACACATATATATAT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPS5_chr8_67038079_67067133	67056684	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	292	0.0034	-28	c.574 others(42): Show c.574-108_574-81delTTATATATATATATATATATATATATAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COQ3_chr6_99364401_99399195	99378133	TATATATA others(21): Show TATATATATATATATATATATATATTTAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00609.hp1 others(39): Show HG00140.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02071.hp2 HG02074.hp2 HG03486.hp2 HG03669.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA19010.hp2 NA19054.hp2 NA19076.hp2 NA19078.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0003c0003t0004 a0002c0002t0002 a0003c0003t0003 a0003c0003t0004	a0002c0002t0002g0272 a0003c0003t0003g0006 a0003c0003t0003g0007 others(30): Show a0002c0002t0002g0272 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0019 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0077 a0003c0003t0003g0113 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0156 a0003c0003t0003g0157 a0003c0003t0003g0158 a0003c0003t0003g0159 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0168 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0175 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0180 a0003c0003t0003g0251 a0003c0003t0004g0304 a0003c0003t0004g0315	42	434	0.0968	-28	c.387 others(43): Show c.387-676_387-649delCTAAATATATATATATATATATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99378135	TATATATA others(21): Show TATATATATATATATATATATATTTAGAG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	434	0.0023	-28	c.387 others(43): Show c.387-678_387-651delCTCTAAATATATATATATATATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ8A_chr1_226935294_226992544	226944722	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01361.hp1 others(11): Show HG01168.hp1 HG01169.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG02258.hp1 HG02896.hp1 HG04228.hp2 NA18993.hp1 NA19055.hp1 NA19058.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0010t0004	a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0046 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0339 a0001c0001t0002g0251 a0001c0001t0004g0003 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0318 a0001c0010t0004g0250	14	412	0.0340	-28	c.-10 others(45): Show c.-10+4337_-10+4364delAGAGAGAGAGAGAGTGAGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO2B_chr15_68573993_68732806	68650356	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp1 NA18966.hp2 others(1): Show HG02886.hp2 NA18906.hp1 NA18966.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0098 a0001c0001t0004g0140 a0001c0001t0005g0165 others(1): Show a0001c0001t0002g0098 a0001c0001t0004g0140 a0001c0001t0005g0165 a0001c0001t0009g0238	4	256	0.0156	-28	c.216 others(45): Show c.216+5019_216+5046delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
COX10_chr17_14064504_14213677	14210395	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0057 a0004c0019t0003g0057	1	322	0.0031	-28	c.31 others(39): Show c.3183_*3210delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding		1719		chr17	TogoVar
COX15_chr10_99705868_99737127	99735791	CTAAAATC others(21): Show CTAAAATCTACCTTGTTTTATAGAAAACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	422	0.0024	-28	c.-37 others(39): Show c.-3770_-3743delAGTTTTCTATAAAACAAGGTAGATTTTA	COX15	ENSG00000014919.13	transcript	ENST00000016171.6	protein_coding		3665		chr10	TogoVar
COX17_chr3_119664532_119682406	119677101	GAGGGCAG others(21): Show GAGGGCAGAAGGCAGAGGGCAGAGGCCGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02896.hp1 HG03195.hp1 others(1): Show HG01123.hp2 HG02896.hp1 HG03195.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106	4	420	0.0095	-28	c.107 others(42): Show c.107+75_107+102delACGGCCTCTGCCCTCTGCCTTCTGCCCT	COX17	ENSG00000138495.7	transcript	ENST00000261070.7	protein_coding	1/2			chr3	TogoVar
COX7B2_chr4_46729827_46914245	46763200	GATATTAT others(21): Show GATATTATATTTATAATATATATTCATAT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02622.hp2 others(2): Show HG01167.hp1 HG02145.hp1 HG02622.hp2 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0237 a0001c0001t0002g0047	5	300	0.0167	-28	c.-49 others(47): Show c.-49-27987_-49-27960delATATGAATATATATTATAAATATAAT AT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA6_chr8_67417038_67751360	67507999	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(41): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp1 NA18612.hp1 NA18964.hp1 NA18981.hp1 NA18981.hp2 NA18991.hp1 NA18998.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19077.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0010c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0004t0001 a0010c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0027 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0002g0025 a0001c0001t0002g0072 a0001c0001t0002g0095 a0002c0002t0001g0013 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0003c0003t0001g0043 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0077 a0004c0005t0001g0031 a0004c0005t0001g0060 a0004c0005t0001g0117 a0005c0004t0001g0024 a0005c0004t0001g0049 a0005c0004t0001g0090 a0010c0006t0001g0055	44	144	0.3056	-28	c.535 others(45): Show c.535-1139_535-1112delCACACACACACACACACACACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	5/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16906337	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03490.hp2 NA18965.hp1 others(1): Show HG00639.hp2 HG03490.hp2 NA18965.hp1 NA19085.hp1	a0024 a0046 a0112 others(1): Show a0024 a0046 a0112 a0113	a0024c0030 a0046c0036 a0112c0135 others(1): Show a0024c0030 a0046c0036 a0112c0135 a0113c0136	a0024c0030t0001 a0046c0036t0001 a0112c0135t0002 others(1): Show a0024c0030t0001 a0046c0036t0001 a0112c0135t0002 a0113c0136t0002	a0024c0030t0001g0148 a0046c0036t0001g0031 a0112c0135t0002g0268 others(1): Show a0024c0030t0001g0148 a0046c0036t0001g0031 a0112c0135t0002g0268 a0113c0136t0002g0169	4	278	0.0144	-28	c.402 others(45): Show c.4027+587_4027+614delAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906383	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0092 a0003c0002t0002g0092	1	278	0.0036	-28	c.402 others(45): Show c.4027+541_4027+568delGGAAAGAAAGAAAGAAAGAAAGAAAGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPED1_chr7_120983711_121302442	121129287	GTATATAT others(21): Show GTATATATATATATATATATATATACGTA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 HG02976.hp2 NA18522.hp1	a0005 a0005	a0005c0011 a0005c0012 a0005c0011 a0005c0012	a0005c0011t0001 a0005c0012t0001 a0005c0011t0001 a0005c0012t0001	a0005c0011t0001g0052 a0005c0012t0001g0079 a0005c0011t0001g0052 a0005c0012t0001g0079	2	140	0.0143	-28	c.140 others(45): Show c.1408-817_1408-790delTATACGTATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03942.hp1 NA18955.hp1 HG01074.hp2 HG03942.hp1 NA18955.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0020 a0001c0001 a0014c0020	a0001c0001t0001 a0014c0020t0001 a0001c0001t0001 a0014c0020t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0014c0020t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0014c0020t0001g0171	3	268	0.0112	-28	c.337 others(43): Show c.337+154_337+181delTATATATATATATATATATATATATATA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52			chr5	TogoVar
CPNE4_chr3_131528569_132040014	131824142	ATATAAAT others(21): Show ATATAAATAAAGTGTGAGATACAATTCTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02622.hp1 others(7): Show HG02257.hp2 HG02572.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp1 HG03516.hp1 HG04199.hp2 NA18906.hp2 NA18982.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0004	a0001c0001t0001g0010 a0001c0001t0002g0085 a0001c0003t0001g0014 others(7): Show a0001c0001t0001g0010 a0001c0001t0002g0085 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0002g0081 a0001c0006t0004g0008	10	94	0.1064	-28	c.180 others(47): Show c.180+81094_180+81121delAAGAATTGTATCTCACACTTTATTTA TA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587999	GCCCCCCG others(21): Show GCCCCCCGTGTTACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0192 a0001c0002t0003g0192	1	348	0.0029	-28	c.928 others(43): Show c.928-670_928-643delCGTGTTACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)