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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	260	0.0039	44	c.565 others(63): Show c.565-43918_565-43917insTATATATATATATATATGGATATATA TATATATATATATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567389	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATAGATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	260	0.0039	44	c.565 others(63): Show c.565-43918_565-43917insTATATATATATATATATATATAGATA TATATATATAGATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	164	0.0061	44	c.280 others(65): Show c.2806+65025_2806+65026insATATATATATATATATACATATAT ATATATATATATATATATTT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(37): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03669.hp1 HG03669.hp2 others(4): Show HG03195.hp1 HG03669.hp1 HG03669.hp2 NA18949.hp2 NA18971.hp2 NA18981.hp2 NA19074.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0013	a0001c0001 a0002c0002 a0007c0007 others(2): Show a0001c0001 a0002c0002 a0007c0007 a0007c0024 a0013c0014	a0001c0001t0002 a0002c0002t0002 a0007c0007t0002 others(2): Show a0001c0001t0002 a0002c0002t0002 a0007c0007t0002 a0007c0024t0002 a0013c0014t0002	a0001c0001t0002g0002 a0001c0001t0002g0210 a0002c0002t0002g0020 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0210 a0002c0002t0002g0020 a0007c0007t0002g0016 a0007c0024t0002g0209 a0013c0014t0002g0031	7	430	0.0163	44	c.-10 others(55): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CACACACACA		CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding					891		chr17	TogoVar
CEP295_chr11_93656682_93735358	93728681	G G	GGGGGGGG others(37): Show GGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	44	c.716 others(53): Show c.7162_7163insGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGT	p.Glu others(6): Show p.Glu2388fs	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	25/30	7282/8014	7163/7806	2388/2601			chr11	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0111 a0001c0009t0003g0111	1	342	0.0029	44	c.208 others(61): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
CER1_chr9_14714724_14727733	14719553	G G	GCATTCCT others(37): Show GCATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	460	0.0022	44	c.53 others(53): Show c.536_*537insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAATG		CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding					170		chr9	TogoVar
CERS3_chr15_100395395_100533950	100466811	C C	CTCCCTCT others(37): Show CTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(53): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01517.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02300.hp2 HG02451.hp1 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18994.hp2 NA19009.hp2 NA19010.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0003t0010	a0001c0001t0001g0129 a0001c0001t0001g0270 a0001c0001t0001g0275 others(53): Show a0001c0001t0001g0129 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0243 a0001c0001t0002g0259 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0299 a0001c0001t0023g0301 a0001c0003t0010g0340 a0001c0003t0010g0341 a0001c0003t0010g0342 a0001c0003t0010g0343	56	362	0.1547	44	c.845 others(61): Show c.845+2566_845+2567insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGAGAGAGAGGGA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp2 HG02976.hp2 others(4): Show HG01258.hp1 HG01258.hp2 HG02976.hp2 NA18522.hp2 NA18969.hp2 NA19000.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0002c0003t0003	a0001c0001t0001g0093 a0001c0001t0001g0195 a0001c0001t0004g0138 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0195 a0001c0001t0004g0138 a0001c0001t0007g0139 a0002c0003t0003g0040 a0002c0003t0003g0069 a0002c0003t0003g0073	7	320	0.0219	44	c.197 others(63): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATATATATATA		CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9						chr12	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	336	0.0030	44	c.118 others(63): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16						chr5	TogoVar
CFAP276_chr1_109100951_109117747	109113413	A A	AGAGAGAG others(37): Show AGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	404	0.0025	44	c.-73 others(53): Show c.-735_-734insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC TCTCTCTC		CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding					667		chr1	TogoVar
CFAP46_chr10_132803392_132947570	132823086	T T	TGTGTGCT others(37): Show TGTGTGCTGTGTGCTGATGTGTGCTGACGTGTGCTGTGTGCTGAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19004.hp2 HG00544.hp2 NA19004.hp2	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0002 a0028c0027t0002	a0028c0027t0002g0028 a0028c0027t0002g0077 a0028c0027t0002g0028 a0028c0027t0002g0077	2	246	0.0081	44	c.711 others(63): Show c.7118-8173_7118-8172insGTCAGCACACAGCACACGTCAGCACA CATCAGCACACAGCACAC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132823485	C C	CTGATGTG others(37): Show CTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19004.hp2 HG00544.hp2 NA19004.hp2	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0002 a0028c0027t0002	a0028c0027t0002g0028 a0028c0027t0002g0077 a0028c0027t0002g0028 a0028c0027t0002g0077	2	246	0.0081	44	c.711 others(63): Show c.7118-8572_7118-8571insCACAGCACACATCACCACACACACAG CACACAGTGCACACATCA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132885723	T T	TGGAGCAC others(37): Show TGGAGCACTCACAGGCGGTGTGGGGAGCACTCATAGGCGGTGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(64): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19062.hp1 NA19067.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0016 a0025 a0030 a0031 a0036 a0038 a0040 a0042 a0044 a0047 a0052 a0064	a0001c0001 a0002c0002 a0002c0003 others(21): Show a0001c0001 a0002c0002 a0002c0003 a0002c0023 a0002c0054 a0003c0007 a0003c0012 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0016c0031 a0016c0095 a0025c0033 a0030c0066 a0031c0065 a0036c0051 a0038c0037 a0040c0050 a0042c0053 a0044c0055 a0047c0035 a0052c0067 a0064c0101	a0001c0001t0002 a0002c0002t0001 a0002c0003t0001 others(22): Show a0001c0001t0002 a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0016c0031t0002 a0016c0095t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0031c0065t0001 a0036c0051t0001 a0038c0037t0001 a0040c0050t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0052c0067t0002 a0064c0101t0002	a0001c0001t0002g0079 a0002c0002t0001g0126 a0002c0002t0001g0141 others(63): Show a0001c0001t0002g0079 a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0016c0031t0002g0030 a0016c0031t0002g0072 a0016c0095t0002g0114 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0031c0065t0001g0232 a0036c0051t0001g0180 a0038c0037t0001g0230 a0040c0050t0001g0178 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0052c0067t0002g0013 a0064c0101t0002g0022	67	246	0.2724	44	c.344 others(59): Show c.3443+97_3443+98insCCCCACCGCCTATGAGTGCTCCCCACACCG CCTGTGAGTGCTCC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	26/57						chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(37): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA20805.hp2 NA18973.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0262 a0001c0002t0001g0243 a0001c0002t0001g0262	2	316	0.0063	44	c.117 others(63): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0021 a0002c0005t0001g0021	1	308	0.0033	44	c.158 others(61): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TATATATATATATATA		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20337558	A A	ATAGATGG others(37): Show ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG02145.hp1 others(3): Show HG01361.hp2 HG01891.hp2 HG02145.hp1 HG02486.hp2 HG03139.hp2 HG03486.hp2	a0001 a0022 a0024 a0001 a0022 a0024	a0001c0001 a0001c0023 a0001c0039 others(2): Show a0001c0001 a0001c0023 a0001c0039 a0022c0042 a0024c0029	a0001c0001t0003 a0001c0023t0003 a0001c0039t0003 others(2): Show a0001c0001t0003 a0001c0023t0003 a0001c0039t0003 a0022c0042t0003 a0024c0029t0003	a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0023t0003g0054 others(3): Show a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0023t0003g0054 a0001c0039t0003g0125 a0022c0042t0003g0128 a0024c0029t0003g0132	6	236	0.0254	44	c.342 others(63): Show c.3423-4272_3423-4271insAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP77_chr9_132405211_132578319	132514025	A A	ACACGGGT others(37): Show ACACGGGTGACAGTGAGGAGATGCCCCCTCCCCCGTGTCCCTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00639.hp1 others(102): Show HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18961.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp2 NA18994.hp2 NA18997.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0016 a0002c0003 a0002c0007 a0002c0017 a0002c0019 a0003c0010 a0008c0013 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0002 a0001c0016t0001 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0007t0002 a0002c0017t0001 a0002c0019t0001 a0003c0010t0001 a0008c0013t0001 a0009c0012t0002	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0044 others(102): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0136 a0001c0001t0002g0265 a0001c0001t0005g0192 a0001c0001t0010g0224 a0001c0002t0001g0183 a0001c0004t0001g0147 a0001c0004t0002g0281 a0001c0004t0002g0317 a0001c0004t0003g0285 a0001c0005t0002g0157 a0001c0016t0001g0143 a0002c0003t0001g0008 a0002c0003t0001g0015 a0002c0003t0001g0018 a0002c0003t0001g0031 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0072 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0104 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0124 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0207 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0219 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0262 a0002c0003t0001g0286 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0316 a0002c0003t0002g0034 a0002c0003t0002g0180 a0002c0003t0002g0229 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0007t0001g0160 a0002c0007t0001g0165 a0002c0007t0002g0156 a0002c0017t0001g0313 a0002c0019t0001g0111 a0003c0010t0001g0274 a0008c0013t0001g0172 a0009c0012t0002g0187	105	322	0.3261	44	c.524 others(63): Show c.524+14446_524+14447insGCCCCCTCCCCCGTGTCCCTGACCAC GGGTGACAGTGAGGAGAT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFI_chr4_109735695_109806999	109741993	A A	AATTTACT others(37): Show AATTTACTTCCAAATGGAAGTAAATCTCATCTCATTTGAGATGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	354	0.0028	44	c.153 others(61): Show c.1534+454_1534+497dupCTCATCTCAAATGAGATGAGATTTACTT CCATTTGGAAGTAAAT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	12/12						chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(37): Show TAATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	354	0.0028	44	c.58- others(61): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATATATATATATATT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12						chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp2 HG02015.hp1 others(7): Show HG01123.hp2 HG01257.hp2 HG02015.hp1 NA18942.hp1 NA18960.hp2 NA18966.hp2 NA18969.hp2 NA18978.hp2 NA19087.hp1 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0009 a0001c0001 a0001c0002 a0011c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0011c0009t0001	a0001c0001t0001g0085 a0001c0002t0001g0037 a0001c0002t0001g0086 others(7): Show a0001c0001t0001g0085 a0001c0002t0001g0037 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0295 a0001c0002t0004g0005 a0011c0009t0001g0106	10	354	0.0283	44	c.58- others(61): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATATATATAT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12						chr4	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(37): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18999.hp1 HG00544.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0254 a0001c0001t0001g0255	2	352	0.0057	44	c.-12 others(61): Show c.-12+1931_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA		CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5						chr2	TogoVar
CHADL_chr22_41224513_41245931	41244614	G G	GCCGCCCA others(37): Show GCCGCCCACTTTCGGCAGTCGATGTGCCCATTCTTATAGGTAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	414	0.0024	44	c.-37 others(55): Show c.-3734_-3733insTCCTACCTATAAGAATGGGCACATCGACTGCCGA AAGTGGGCGG		CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding					3684		chr22	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(37): Show CCCGCCGCACCCCTCCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	366	0.0027	44	c.-36 others(55): Show c.-3694_-3693insCCGCCGCACCCCTCCCGCCGCCGCCGCCGCCGCC GCCGCCGCCG		CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding					3481		chr17	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	238	0.0042	44	c.-16 others(63): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATATATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTGT others(37): Show GTATGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	238	0.0042	44	c.-16 others(63): Show c.-164-9504_-164-9503insGTGTATATATATATATATATATATAT ATATATATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	238	0.0042	44	c.-16 others(63): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT ATATATATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHID1_chr11_862859_915810	890985	T T	TGCTCTTG others(37): Show TGCTCTTGGGAGGTGAGTGACAAGCACAATTACGCGCTGCTGCAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	386	0.0026	44	c.701 others(61): Show c.701+2398_701+2441dupTTGCAGCAGCGCGTAATTGTGCTTGTCA CTCACCTCCCAAGAGC		CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	8/12						chr11	TogoVar
CHN2_chr7_29189775_29519328	29273361	A A	ATATATAT others(37): Show ATATATATATGTGTGTATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0164 a0001c0001t0011g0164	1	232	0.0043	44	c.49+ others(61): Show c.49+78380_49+78381insGTGTGTATATATATATATATATATATAT ATATGTGTATATATAT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29472281	A A	ACACACAC others(37): Show ACACACACACACACACACACACACGCACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0052 a0001c0002t0020g0052	1	232	0.0043	44	c.577 others(61): Show c.577-7981_577-7980insACACACGCACACACACACACACACACGC ACACACACACACACAC		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	392	0.0026	44	c.17 others(55): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689572	C C	CTATATAT others(37): Show CTATATATCTATATATCTATATATATCTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp1 NA19056.hp1 HG00609.hp1 HG01255.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0114 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0114	3	172	0.0174	44	c.779 others(59): Show c.779-770_779-769insTAGATATATAGATATATAGATATATATAGA TATATAGATATATA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRM2_chr7_136863652_137025213	136867786	T T	TATATATA others(37): Show TATATATATATATATATATTCTGGATATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG02273.hp1 others(13): Show HG01891.hp1 HG01952.hp2 HG02273.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03492.hp1 HG03516.hp2 HG03834.hp1 HG04228.hp2 NA18906.hp1 NA18945.hp1 NA18980.hp1 NA19054.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 others(6): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041 a0001c0001t0050 a0001c0010t0004	a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 others(13): Show a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0090 a0001c0001t0008g0087 a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0014g0071 a0001c0001t0014g0093 a0001c0001t0024g0067 a0001c0001t0025g0094 a0001c0001t0041g0318 a0001c0001t0050g0085 a0001c0010t0004g0081	16	320	0.0500	44	c.-14 others(55): Show c.-1489_-1488insATATATATATATATATATTCTGGATATATATATA TATATTCTGG		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding					865		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867903	T T	TATATATA others(37): Show TATATATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	320	0.0031	44	c.-13 others(55): Show c.-1372_-1371insATATATATATATATATATATATTCTGGATATATA TATCCTGGAC		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding					748		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867969	A A	ATATATAT others(37): Show ATATATATTCTGGATATATATATATATATTCTGGATATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	320	0.0031	44	c.-13 others(55): Show c.-1306_-1305insTATATATTCTGGATATATATATATATATTCTGGA TATATATATC		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding					682		chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000567	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01943.hp1 others(5): Show HG00735.hp2 HG01175.hp2 HG01943.hp1 HG02735.hp2 HG04115.hp1 NA18971.hp1 NA18973.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0002t0017	a0001c0001t0001g0284 a0001c0001t0007g0088 a0001c0001t0007g0132 others(5): Show a0001c0001t0001g0284 a0001c0001t0007g0088 a0001c0001t0007g0132 a0001c0001t0007g0302 a0001c0001t0007g0316 a0001c0001t0014g0052 a0001c0002t0001g0027 a0001c0002t0017g0240	8	320	0.0250	44	c.-47 others(61): Show c.-47+8328_-47+8329insAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGG		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02970.hp1 HG03098.hp1 others(1): Show HG00609.hp1 HG02970.hp1 HG03098.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0042 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0042 a0002c0002t0002	a0001c0001t0005g0041 a0001c0001t0009g0038 a0001c0001t0042g0080 others(1): Show a0001c0001t0005g0041 a0001c0001t0009g0038 a0001c0001t0042g0080 a0002c0002t0002g0012	4	116	0.0345	44	c.-14 others(63): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	392	0.0026	44	c.547 others(59): Show c.547-194_547-193insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7						chr10	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	254	0.0039	44	c.131 others(63): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143784	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	276	0.0036	44	c.108 others(65): Show c.1087-40424_1087-40423insATATGTGTGTATATATATATATAT ATATATATATATATATATAT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	795492	C C	CCCCCTGT others(37): Show CCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGCGCCCTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01496.hp1 others(6): Show HG01109.hp2 HG01261.hp2 HG01496.hp1 HG02683.hp1 HG03704.hp2 NA18945.hp1 NA18999.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0002 a0015 a0017 a0002 a0015 a0017	a0002c0002 a0002c0039 a0015c0023 others(1): Show a0002c0002 a0002c0039 a0015c0023 a0017c0025	a0002c0002t0001 a0002c0039t0001 a0015c0023t0001 others(1): Show a0002c0002t0001 a0002c0039t0001 a0015c0023t0001 a0017c0025t0001	a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0039t0001g0043 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0039t0001g0043 a0015c0023t0001g0182 a0015c0023t0001g0183 a0015c0023t0001g0184 a0017c0025t0001g0175 a0017c0025t0001g0176	9	428	0.0210	44	c.217 others(61): Show c.2175+140_2175+141insTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGCGCCCTTCTCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795492	C C	CCCCCTGT others(37): Show CCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02615.hp2 HG01069.hp1 HG01071.hp2 HG02615.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0018 a0011c0020t0001g0018	3	428	0.0070	44	c.217 others(61): Show c.2175+140_2175+141insTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795537	G G	GCCCCCCT others(37): Show GCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG03516.hp2 HG02976.hp2 HG03486.hp2 HG03516.hp2	a0043 a0044 a0049 a0043 a0044 a0049	a0043c0069 a0044c0068 a0049c0046 a0043c0069 a0044c0068 a0049c0046	a0043c0069t0001 a0044c0068t0001 a0049c0046t0001 a0043c0069t0001 a0044c0068t0001 a0049c0046t0001	a0043c0069t0001g0045 a0044c0068t0001g0045 a0049c0046t0001g0261 a0043c0069t0001g0045 a0044c0068t0001g0045 a0049c0046t0001g0261	3	428	0.0070	44	c.217 others(61): Show c.2176-142_2176-141insTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCTCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CIBAR1_chr8_93695550_93736527	93697765	C C	CATATATA others(37): Show CATATATATACATGTATATATATACATATATATACATGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 homoSapiens_chm13v2.hp1 HG00140.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	2	374	0.0054	44	c.-28 others(55): Show c.-2883_-2882insATATATATACATGTATATATATACATATATATAC ATGTATATAT		CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding					2784		chr8	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	372	0.0027	44	c.111 others(61): Show c.1113+220_1113+221insTATATATATATATATGTATATATATATA TATATATATATATATA		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	372	0.0027	44	c.111 others(61): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATATATATATATATA		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569177	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0358 a0009c0014t0003g0359 a0009c0014t0003g0358 a0009c0014t0003g0359	2	372	0.0054	44	c.111 others(61): Show c.1113+211_1113+212insGTATATATATATATATATATATATATAT ATATATATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569179	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0290 a0005c0006t0007g0290	1	372	0.0027	44	c.111 others(61): Show c.1113+209_1113+210insGTGTATATATATATATATATATATATAT ATATATATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG01255.hp2 others(7): Show HG00673.hp1 HG01109.hp1 HG01255.hp2 HG01361.hp2 NA18953.hp1 NA18959.hp2 NA18971.hp2 NA18981.hp1 NA18986.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0190 a0001c0001t0002g0250 others(6): Show a0001c0001t0002g0008 a0001c0001t0002g0190 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0282	10	372	0.0269	44	c.111 others(61): Show c.1113+207_1113+208insGTGTGTGTGTGTGTATATATATATATAT ATATATATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 HG01361.hp1 others(7): Show HG00597.hp1 HG01358.hp1 HG01361.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG04184.hp2 NA18965.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0177 others(7): Show a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0183 a0001c0001t0002g0226 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0006g0272	10	372	0.0269	44	c.111 others(61): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATATATATATATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20						chr3	TogoVar

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