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
COL4A3_chr2_227159624_227319792	227203168	T T	TATATATG others(95): Show TATATATGTGTATATATACATATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0128	1	344	0.0029	102	c.88- others(119): Show c.88-34786_88-34785insATACATATATATACATATATGTGTATAT ATACGTATATATACATATATGTGTATATATACGTATATATACATATATGT GTATATATACATATATGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATATATG others(95): Show CATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATG TGTATACATACATATATGTGTGTATATATGTGTATACATACATATATGTG TGT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0087 a0007c0006t0005g0087	1	344	0.0029	102	c.88- others(119): Show c.88-34596_88-34595insGTATATATGTGTATACATACATATATGT GTGTATATATGTGTATACATACATATATGTGTGTATATATGTGTATACAT ACATATATGTGTGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134828659	C C	CAGATACA others(95): Show CAGATACACATCACACACAACATGCACCACACATACCACACAGATACATA CCACACCCACACACACGATATACACCACACATCACATACCACACAGCACA CGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0025 a0001c0005 a0001c0025	a0001c0005t0022 a0001c0025t0015 a0001c0005t0022 a0001c0025t0015	a0001c0005t0022g0085 a0001c0025t0015g0007 a0001c0005t0022g0085 a0001c0025t0015g0007	2	272	0.0074	102	c.506 others(121): Show c.5068-1316_5068-1315insGATACACATCACACACAACATGCACC ACACATACCACACAGATACATACCACACCCACACACACGATATACACCAC ACATCACATACCACACAGCACACGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828659	C C	CAGATACA others(95): Show CAGATACACATCACACACAACATGCACCACACATACCACACAGATACATA CTACACCCACACACACGATATACACCACACATCACATACCACACACCACA CAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp2 others(87): Show HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(31): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0026 a0001c0027 a0001c0036 a0001c0039 a0001c0044 a0001c0047 a0001c0050 a0001c0051 a0001c0052 a0002c0042 a0003c0021 a0004c0029 a0005c0062 a0006c0034 a0007c0066 a0008c0030 a0009c0054 a0011c0035 a0013c0055 a0014c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0055 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0015 a0001c0003t0016 a0001c0003t0025 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0005t0045 a0001c0005t0053 a0001c0007t0015 a0001c0008t0003 a0001c0009t0001 a0001c0009t0023 a0001c0010t0026 a0001c0012t0004 a0001c0012t0039 a0001c0014t0002 a0001c0015t0052 a0001c0016t0012 a0001c0019t0022 a0001c0026t0006 a0001c0027t0002 a0001c0036t0035 a0001c0039t0004 a0001c0044t0057 a0001c0047t0003 a0001c0050t0004 a0001c0051t0007 a0001c0052t0020 a0002c0042t0002 a0003c0021t0001 a0004c0029t0002 a0004c0029t0005 a0005c0062t0011 a0006c0034t0009 a0007c0066t0001 a0008c0030t0001 a0009c0054t0002 a0011c0035t0012 a0013c0055t0007 a0014c0053t0029	a0001c0001t0001g0125 a0001c0001t0001g0212 a0001c0001t0002g0023 others(87): Show a0001c0001t0001g0125 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0220 a0001c0001t0002g0243 a0001c0001t0005g0249 a0001c0001t0006g0129 a0001c0001t0007g0215 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0037g0053 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0001g0221 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0002g0062 a0001c0002t0002g0077 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0063 a0001c0002t0006g0250 a0001c0002t0055g0152 a0001c0003t0001g0219 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0003g0255 a0001c0003t0004g0266 a0001c0003t0007g0003 a0001c0003t0008g0078 a0001c0003t0015g0188 a0001c0003t0016g0099 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0036g0051 a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 a0001c0004t0002g0132 a0001c0004t0002g0228 a0001c0004t0004g0089 a0001c0004t0004g0224 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0001g0107 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0005t0053g0105 a0001c0007t0015g0200 a0001c0008t0003g0017 a0001c0009t0001g0106 a0001c0009t0023g0263 a0001c0010t0026g0049 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0015t0052g0016 a0001c0016t0012g0021 a0001c0019t0022g0231 a0001c0026t0006g0101 a0001c0027t0002g0090 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0044t0057g0042 a0001c0047t0003g0032 a0001c0050t0004g0034 a0001c0051t0007g0202 a0001c0052t0020g0199 a0002c0042t0002g0234 a0003c0021t0001g0157 a0004c0029t0002g0097 a0004c0029t0005g0100 a0005c0062t0011g0026 a0006c0034t0009g0193 a0007c0066t0001g0235 a0008c0030t0001g0137 a0009c0054t0002g0141 a0011c0035t0012g0008 a0013c0055t0007g0257 a0014c0053t0029g0134	90	272	0.3309	102	c.506 others(121): Show c.5068-1316_5068-1315insGATACACATCACACACAACATGCACC ACACATACCACACAGATACATACTACACCCACACACACGATATACACCAC ACATCACATACCACACACCACACAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970230	G G	GGGGTGAG others(95): Show GGGGTGAGTGAGGTCTGTGGGTGAATGGGAGCTGTGCAGTGAGGGATCTG TGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGTGC TGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG03239.hp1 others(1): Show HG02723.hp1 HG02895.hp1 HG03239.hp1 NA18969.hp1	a0002 a0031 a0002 a0031	a0002c0002 a0002c0034 a0031c0043 a0002c0002 a0002c0034 a0031c0043	a0002c0002t0002 a0002c0034t0002 a0031c0043t0006 others(1): Show a0002c0002t0002 a0002c0034t0002 a0031c0043t0006 a0031c0043t0007	a0002c0002t0002g0365 a0002c0034t0002g0163 a0031c0043t0006g0055 others(1): Show a0002c0002t0002g0365 a0002c0034t0002g0163 a0031c0043t0006g0055 a0031c0043t0007g0054	4	412	0.0097	102	c.393 others(119): Show c.3937-309_3937-308insACAGCACCCACTCACCCACAGACCCCAC TCACCCCACAGACCCCACTCACCCACAGATCCCTCACTGCACAGCTCCCA TTCACCCACAGACCTCACTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGGTCA others(95): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG00735.hp1 others(13): Show HG00597.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG02080.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG04184.hp2 NA18971.hp2 NA18979.hp1 NA18998.hp1 NA19005.hp1 NA19054.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0025 a0003c0007 a0001c0002 a0001c0025 a0003c0007	a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0025t0002 a0003c0007t0002	a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0279 others(11): Show a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0293 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0332 a0001c0002t0005g0292 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0025t0002g0282 a0003c0007t0002g0022	16	372	0.0430	102	c.49 others(113): Show c.4964_*4965insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134497	G G	GAGGGTCA others(95): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03486.hp1 HG01978.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0001 a0001c0002t0002 a0001c0005t0001	a0001c0002t0002g0320 a0001c0005t0001g0263 a0001c0002t0002g0320 a0001c0005t0001g0263	2	372	0.0054	102	c.50 others(113): Show c.5006_*5007insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4697		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTCA others(95): Show GAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 NA18977.hp1 HG00438.hp2 HG00639.hp1 NA18977.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0097 a0003c0004t0004g0208 a0003c0004t0004g0212 a0003c0004t0004g0097 a0003c0004t0004g0208 a0003c0004t0004g0212	3	372	0.0081	102	c.50 others(113): Show c.5060_*5061insAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTCAGGTTTAGGGTG AGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGGTCA others(95): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0311 a0001c0002t0002g0311	1	372	0.0027	102	c.51 others(113): Show c.5186_*5187insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTT AGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTA GGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	372	0.0027	102	c.52 others(113): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGG TCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA18951.hp1 others(3): Show HG00673.hp1 HG02071.hp1 NA18951.hp1 NA18966.hp2 NA18975.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0259 a0001c0002t0002g0286 others(3): Show a0001c0002t0002g0018 a0001c0002t0002g0259 a0001c0002t0002g0286 a0001c0002t0002g0296 a0001c0002t0002g0300 a0001c0002t0002g0309	6	372	0.0161	102	c.52 others(113): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0314 a0003c0004t0002g0314	1	372	0.0027	102	c.52 others(113): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	372	0.0027	102	c.52 others(113): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGGTCA others(95): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG00735.hp1 others(13): Show HG00597.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG02080.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG04184.hp2 NA18971.hp2 NA18979.hp1 NA18998.hp1 NA19005.hp1 NA19054.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0016 a0001c0002 a0003c0016	a0001c0002t0002 a0003c0016t0002 a0001c0002t0002 a0003c0016t0002	a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0123 others(11): Show a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0123 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0329 a0003c0016t0002g0023	16	364	0.0440	102	c.19 others(113): Show c.1903_*1904insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134497	G G	GAGGGTCA others(95): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03486.hp1 HG01978.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0002 a0001c0015t0002 a0001c0002t0002 a0001c0015t0002	a0001c0002t0002g0317 a0001c0015t0002g0260 a0001c0002t0002g0317 a0001c0015t0002g0260	2	364	0.0055	102	c.19 others(113): Show c.1945_*1946insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1650		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTCA others(95): Show GAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTCAGG TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 NA18977.hp1 HG00438.hp2 HG00639.hp1 NA18977.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0099 a0004c0005t0001g0204 a0004c0005t0001g0208 a0004c0005t0001g0099 a0004c0005t0001g0204 a0004c0005t0001g0208	3	364	0.0082	102	c.19 others(113): Show c.1999_*2000insAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTCAGGTTTAGGGTG AGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGGTCA others(95): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0309 a0001c0002t0002g0309	1	364	0.0028	102	c.21 others(113): Show c.2125_*2126insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTT AGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTA GGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	364	0.0028	102	c.21 others(113): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGG TCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA18951.hp1 others(3): Show HG00673.hp1 HG02071.hp1 NA18951.hp1 NA18966.hp2 NA18975.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0256 a0001c0002t0002g0282 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0256 a0001c0002t0002g0282 a0001c0002t0002g0293 a0001c0002t0002g0299 a0001c0002t0002g0308	6	364	0.0165	102	c.21 others(113): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0312 a0005c0017t0002g0312	1	364	0.0028	102	c.21 others(113): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(95): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGG GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	364	0.0028	102	c.21 others(113): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTG AGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COLEC11_chr2_3590112_3649644	3647534	T T	TTCTCCTG others(95): Show TTCTCCTGATGCCCCTGGGGGTCGCTCACCCGTCCTCTCCTGATGCCCCT GGGGGTCGCTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCGCTCACCCG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0310	1	378	0.0027	102	c.34 others(113): Show c.3416_*3417insTCTCCTGATGCCCCTGGGGGTCGCTCACCCGTCC TCTCCTGATGCCCCTGGGGGTCGCTCACCCGTCCTCTCCTGATGCCCCTG GGGGTCGCTCACCCGTCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2891		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3647568	T T	TTCTCCTG others(95): Show TTCTCCTGATGCCCCTGGGGGTCGCTCACCCGTCCTCTCCTGATGCCCCT GGGGGTCACTCACCCGTCCTCTCCTGATGCCCCTGGGGGTCGCTCACCCG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	378	0.0027	102	c.34 others(113): Show c.3450_*3451insTCTCCTGATGCCCCTGGGGGTCGCTCACCCGTCC TCTCCTGATGCCCCTGGGGGTCACTCACCCGTCCTCTCCTGATGCCCCTG GGGGTCGCTCACCCGTCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2925		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129676	A A	ATATATAT others(95): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTATGTAATATACATTAGTATATATACTATATACTATGTAATATACAT TAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01256.hp1 others(9): Show HG00544.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02132.hp1 HG02602.hp1 NA18961.hp1 NA18966.hp1 NA19056.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0265 a0001c0001t0001g0266 others(9): Show a0001c0001t0001g0192 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287	12	350	0.0343	102	c.400 others(119): Show c.400-4374_400-4373insATGTAATATACATTAGTATATATATACT ATATACTATGTAATATACATTAGTATATATACTATATACTATGTAATATA CATTAGTATATATACTATATACTA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158476	C C	CTCTCCTC others(95): Show CTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTC CTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTCC TCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18950.hp2 NA18994.hp1 HG01928.hp2 NA18950.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143	3	350	0.0086	102	c.510 others(121): Show c.510+24298_510+24299insTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCC CTCTCCTCTCTCTCTCCCTCTCCTCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(95): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19066.hp1 HG02965.hp2 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0161 a0002c0003t0001g0053 a0002c0003t0001g0161	2	330	0.0061	102	c.735 others(117): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTT CTTTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAA others(95): Show GAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	330	0.0030	102	c.735 others(117): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(95): Show GAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	330	0.0030	102	c.735 others(117): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(95): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0277 a0003c0017t0001g0277	1	330	0.0030	102	c.735 others(117): Show c.735+442_735+443insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89587722	C C	CCGTGTCA others(95): Show CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTTAC CCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0020	1	348	0.0029	102	c.927 others(117): Show c.927+647_927+648insCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGT CACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587759	G G	GCGTGTCA others(95): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0206 a0001c0002t0003g0206	1	348	0.0029	102	c.927 others(117): Show c.927+672_927+673insTACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(95): Show CCCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	348	0.0029	102	c.927 others(117): Show c.927+684_927+685insCGTGTCACCCACAGAAACACGGCCCCCGTG TTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(95): Show CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTTAC CCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	348	0.0029	102	c.928 others(117): Show c.928-719_928-718insCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACG GCCCCCCGTGTTACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCGT others(95): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACAC GGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	348	0.0029	102	c.928 others(117): Show c.928-442_928-441insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB3L2_chr7_137869979_138007086	137946900	T T	TTATATAT others(95): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATATAG TTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0067 a0001c0004t0067	a0001c0004t0067g0286 a0001c0004t0067g0286	1	288	0.0035	102	c.103 others(121): Show c.103-18535_103-18534insTAACTATATATAACTATATATATAAC TATATATATATAACTATATATATAACTATATATATATAACTATATATATA ACTATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CROCC2_chr2_240901336_240998311	240923991	C C	CCCCCACA others(95): Show CCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTGACCCAGTCCCCACACTAACC CGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG02735.hp2 others(1): Show HG01074.hp1 HG01358.hp2 HG02735.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0043 a0001 a0002 a0043	a0001c0001 a0002c0002 a0043c0059 a0001c0001 a0002c0002 a0043c0059	a0001c0001t0002 a0002c0002t0002 a0043c0059t0002 a0001c0001t0002 a0002c0002t0002 a0043c0059t0002	a0001c0001t0002g0277 a0002c0002t0002g0259 a0002c0002t0002g0276 others(1): Show a0001c0001t0002g0277 a0002c0002t0002g0259 a0002c0002t0002g0276 a0043c0059t0002g0295	4	350	0.0114	102	c.488 others(119): Show c.488+1350_488+1351insACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGACC CAGTCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923991	C C	CCCCCACA others(95): Show CCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTGACCCAGCCCCCACACTGACCCAGTCCCCACACTAACC CGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	350	0.0029	102	c.488 others(119): Show c.488+1350_488+1351insACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTGACC CAGTCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924255	C C	CCCCCACA others(95): Show CCCCCACACTGACCCGGCCCCCACACTAATCCGGCCCCCACACTGACCCG GCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACTAACC CGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0193 a0006c0007t0001g0193	1	350	0.0029	102	c.489 others(119): Show c.489-1465_489-1464insACACTGACCCGGCCCCCACACTAATCCG GCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTGACCC GGCCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(95): Show CCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCTAACCCCACACTAACC CGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	350	0.0029	102	c.489 others(119): Show c.489-1413_489-1412insACACTGACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CTAACCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924347	A A	ACACTAAC others(95): Show ACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0001 a0019c0015t0001	a0019c0015t0001g0028 a0019c0015t0001g0028	1	350	0.0029	102	c.489 others(119): Show c.489-1377_489-1376insCACTAACCCGGCCCCCACACTAACCCAG TCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1297126	T T	TCCTACTC others(95): Show TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	159	0.0063	102	c.810 others(119): Show c.810+1675_810+1676insTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298175	C C	CCCTACAG others(95): Show CCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTAT TCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGG AAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	159	0.0063	102	c.811 others(119): Show c.811-2310_811-2309insGTCTCCTACTCATGACCCCTGGAGTAAC CCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACT CACAACCCCCGGTGGAAACCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298242	T T	TCCTACTC others(95): Show TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0158 a0004c0010t0003g0158	1	159	0.0063	102	c.811 others(119): Show c.811-2244_811-2243insTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298356	T T	TCCTACTC others(95): Show TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG00140.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0003g0133 a0001c0001t0003g0148	2	159	0.0126	102	c.811 others(119): Show c.811-2130_811-2129insTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298525	T T	TCTCCTAC others(95): Show TCTCCTACCCATGACCCCTGGCGGAACCGTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACCCATGACCCCTGGCGGAACTGTACAGTCCCCTACT CAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03041.hp1 others(1): Show HG01891.hp1 HG02809.hp1 HG03041.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0005 a0001c0001t0002 a0002c0003t0002 a0002c0003t0005	a0001c0001t0002g0031 a0002c0003t0002g0005 a0002c0003t0005g0010 others(1): Show a0001c0001t0002g0031 a0002c0003t0002g0005 a0002c0003t0005g0010 a0002c0003t0005g0137	4	159	0.0252	102	c.811 others(119): Show c.811-1966_811-1965insCTCCTACCCATGACCCCTGGCGGAACCG TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGC GGAACTGTACAGTCCCCTACTCAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSMD1_chr8_2930361_4999914	3237872	A A	ATTATACT others(95): Show ATTATACTTATACTACAAATATAATTTTTATAATTATACTTATACTACAA ATATAATTTTTATAATTATACTTATACTACAAATATAATTTTTATAATTA TAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00735.hp1 others(16): Show HG00099.hp1 HG00438.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG02074.hp1 HG02074.hp2 HG02258.hp2 HG02615.hp2 HG02683.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG04204.hp1 NA18971.hp1	a0001 a0002 a0016 others(5): Show a0001 a0002 a0016 a0017 a0019 a0021 a0028 a0034	a0001c0004 a0001c0017 a0001c0046 others(16): Show a0001c0004 a0001c0017 a0001c0046 a0001c0047 a0001c0079 a0001c0094 a0001c0108 a0001c0115 a0002c0037 a0002c0041 a0002c0060 a0002c0077 a0002c0091 a0016c0063 a0017c0106 a0019c0018 a0021c0016 a0028c0097 a0034c0055	a0001c0004t0063 a0001c0017t0005 a0001c0046t0073 others(16): Show a0001c0004t0063 a0001c0017t0005 a0001c0046t0073 a0001c0047t0014 a0001c0079t0072 a0001c0094t0002 a0001c0108t0054 a0001c0115t0042 a0002c0037t0009 a0002c0041t0027 a0002c0060t0006 a0002c0077t0001 a0002c0091t0002 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0021c0016t0048 a0028c0097t0018 a0034c0055t0034	a0001c0004t0063g0095 a0001c0017t0005g0003 a0001c0046t0073g0091 others(16): Show a0001c0004t0063g0095 a0001c0017t0005g0003 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0079t0072g0113 a0001c0094t0002g0110 a0001c0108t0054g0074 a0001c0115t0042g0055 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0060t0006g0094 a0002c0077t0001g0016 a0002c0091t0002g0114 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0021c0016t0048g0106 a0028c0097t0018g0089 a0034c0055t0034g0047	19	126	0.1508	102	c.415 others(121): Show c.4154-7642_4154-7641insGTATAATTATAAAAATTATATTTGTA GTATAAGTATAATTATAAAAATTATATTTGTAGTATAAGTATAATTATAA AAATTATATTTGTAGTATAAGTATAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3237872	A A	ATTATACT others(95): Show ATTATACTTATACTACAAATATAATTTTTATAATTATACTTATACTACAA ATATAATTTTTATAATTATACTTATACTATAAATATAATTTTTATAATTA TAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp2 HG02572.hp2 others(10): Show HG01081.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0022 a0039	a0001c0006 a0001c0040 a0001c0043 others(10): Show a0001c0006 a0001c0040 a0001c0043 a0001c0105 a0001c0109 a0001c0111 a0002c0030 a0002c0084 a0003c0058 a0005c0107 a0007c0029 a0022c0013 a0039c0009	a0001c0006t0060 a0001c0040t0019 a0001c0043t0031 others(10): Show a0001c0006t0060 a0001c0040t0019 a0001c0043t0031 a0001c0105t0001 a0001c0109t0038 a0001c0111t0045 a0002c0030t0016 a0002c0084t0018 a0003c0058t0057 a0005c0107t0068 a0007c0029t0011 a0022c0013t0007 a0039c0009t0001	a0001c0006t0060g0103 a0001c0040t0019g0123 a0001c0043t0031g0044 others(10): Show a0001c0006t0060g0103 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0105t0001g0029 a0001c0109t0038g0013 a0001c0111t0045g0063 a0002c0030t0016g0122 a0002c0084t0018g0087 a0003c0058t0057g0117 a0005c0107t0068g0073 a0007c0029t0011g0054 a0022c0013t0007g0112 a0039c0009t0001g0002	13	126	0.1032	102	c.415 others(121): Show c.4154-7642_4154-7641insGTATAATTATAAAAATTATATTTATA GTATAAGTATAATTATAAAAATTATATTTGTAGTATAAGTATAATTATAA AAATTATATTTGTAGTATAAGTATAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412010	A A	ATACGTGT others(95): Show ATACGTGTATATACACGTATATATACGTGTATATACACGTATATATACGT GTATATACACGTATATATACGTGTATACGTGTATATACACGTATATATAC GTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0013 a0027 a0013 a0027	a0013c0027 a0027c0023 a0013c0027 a0027c0023	a0013c0027t0003 a0027c0023t0001 a0013c0027t0003 a0027c0023t0001	a0013c0027t0003g0099 a0027c0023t0001g0052 a0013c0027t0003g0099 a0027c0023t0001g0052	2	126	0.0159	102	c.156 others(121): Show c.1562-2406_1562-2405insCACGTATATATACGTGTATATACACG TATACACGTATATATACGTGTATATACACGTATATATACGTGTATATACA CGTATATATACGTGTATATACACGTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159879	T T	TCCTTCTT others(95): Show TCCTTCTTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCCTTCCT CCTTCCTTCCTTCTTCCTTCTTCCTTCCTTCCTTCTTTCTTTCTTTTCTT TTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp2 HG03540.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0138 a0002c0002t0002g0139	2	158	0.0127	102	c.253 others(119): Show c.2538+743_2538+744insCTTCTTTCCTTCCTTCCTTCCTCCTTCC TTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCTTCCTTCCTT CCTTCTTTCTTTCTTTTCTTTTCC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CST8_chr20_23486117_23501010	23490278	A A	AATATATA others(95): Show AATATATATAACATATATATAAATTATATATATATTAATTAATATATATA ATATATATATAAATTATCTATATATTAATTATATATATAAAATATATATA AAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	102	c.-12 others(113): Show c.-1208_-1207insATATATATAACATATATATAAATTATATATATAT TAATTAATATATATAATATATATATAAATTATCTATATATTAATTATATA TATAAAATATATATAAAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		838		chr20	TogoVar

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