Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02602.hp2 others(2): Show HG01167.hp1 HG02109.hp2 HG02602.hp2 NA18979.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0187 a0001c0001t0002g0216 a0001c0001t0002g0218 others(2): Show a0001c0001t0002g0187 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0002t0001g0332	5	336	0.0149	29	c.118 others(48): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(22): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp2 HG00735.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0323 a0001c0001t0005g0192 a0001c0001t0001g0323 a0001c0001t0005g0192	2	449	0.0045	29	c.112 others(48): Show c.1126-1504_1126-1503insAGAAAAAAAAAAAAGAAAGAAAACAG AAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(22): Show TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0003 a0001c0003t0025g0003	1	354	0.0028	29	c.69 others(40): Show c.6926_*6927insTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02895.hp1 others(5): Show HG02258.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03195.hp1 NA18977.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0038 a0001c0001t0001 a0001c0001t0003 a0001c0001t0038	a0001c0001t0001g0060 a0001c0001t0003g0016 a0001c0001t0003g0026 others(2): Show a0001c0001t0001g0060 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0058 a0001c0001t0038g0059	8	416	0.0192	29	c.139 others(44): Show c.139+765_139+766insATATATATATATATATATATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80385850	T T	TGTCTTCT others(22): Show TGTCTTCTCTCCCAGGGGACGCAACTACCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	96	0.0104	29	c.242 others(48): Show c.242+22968_242+22996dupTCTTCTCTCCCAGGGGACGCAACTAC CAG	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799285	G G	GTATAAAT others(22): Show GTATAAATATATTTATATAATATTTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	96	0.0104	29	c.334 others(48): Show c.334-70671_334-70643dupATATTTATATAATATTTATATATATA AAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799322	A A	ATATTTAT others(22): Show ATATTTATATAATATTTATATATATAAATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03017.hp1 HG02965.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0051 a0001c0001t0001g0077 a0001c0001t0002g0051	2	96	0.0208	29	c.334 others(48): Show c.334-70617_334-70589dupAAATGTATTTATATAATATTTATATA TAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334519	C C	CCCCCCTC others(22): Show CCCCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01261.hp1 HG01361.hp1 others(21): Show HG00423.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02630.hp2 HG02809.hp1 HG03139.hp2 HG06807.hp1 NA18947.hp1 NA18955.hp2 NA18973.hp2 NA18979.hp1 NA18985.hp2 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19030.hp1 NA19079.hp1 NA19084.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0003c0019 a0004c0006 a0004c0008	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0005t0003 a0001c0010t0002 a0003c0019t0001 a0004c0006t0003 a0004c0008t0011	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0087 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0002t0002g0241 a0001c0002t0002g0273 a0001c0005t0003g0037 a0001c0010t0002g0227 a0003c0019t0001g0078 a0004c0006t0003g0051 a0004c0006t0003g0269 a0004c0008t0011g0222	24	436	0.0551	29	c.143 others(46): Show c.143+1238_143+1239insTGCGCGTGCCCGCCCAGAGGTTGAGGGG G	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334520	C C	CCCCCCTC others(22): Show CCCCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18967.hp2 NA18987.hp1 others(2): Show HG02572.hp1 NA18967.hp2 NA18987.hp1 NA18993.hp2 NA19068.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0012 a0001c0001t0001 a0005c0011t0012	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0158 a0001c0001t0001g0175 a0005c0011t0012g0056	5	436	0.0115	29	c.143 others(46): Show c.143+1237_143+1238insTGCGCGTGCCCGCCCAGAGGTTGAGGGG G	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132888613	C C	CCCTGCCA others(22): Show CCCTGCCACCTTCACCCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0143 a0002c0003t0001g0143	1	246	0.0041	29	c.330 others(48): Show c.3305-2655_3305-2654insTGCAGGCGGCAGGGGGTGAAGGTGGC AGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	402	0.0025	29	c.131 others(48): Show c.1316+1273_1316+1274insATATATATATATATATATATTTTTTT TTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19002.hp2 HG03486.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0101 a0002c0002t0001g0115 a0001c0001t0001g0101 a0002c0002t0001g0115	2	402	0.0050	29	c.131 others(48): Show c.1316+1273_1316+1274insATATATATATATATATATATATTTTT TTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04204.hp1 NA19001.hp2 others(2): Show HG01261.hp1 HG04204.hp1 NA19001.hp2 NA19074.hp2 NA20905.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0034 a0002c0002t0001g0122 a0002c0002t0001g0138 others(2): Show a0002c0002t0001g0034 a0002c0002t0001g0122 a0002c0002t0001g0138 a0003c0003t0001g0238 a0003c0003t0001g0239	5	402	0.0124	29	c.131 others(48): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT TTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18981.hp2 NA18999.hp2 HG01192.hp1 NA18981.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0109 a0002c0002t0001g0071 a0002c0002t0001g0153 a0001c0001t0001g0109 a0002c0002t0001g0071 a0002c0002t0001g0153	3	402	0.0075	29	c.131 others(48): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT TTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96825260	T T	TATATAAT others(22): Show TATATAATATAACATGTTATATTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0028 a0028	a0028c0079 a0028c0079	a0028c0079t0001 a0028c0079t0001	a0028c0079t0001g0184 a0028c0079t0001g0184	1	268	0.0037	29	c.909 others(48): Show c.9097-3743_9097-3715dupACATGTTATATTATATATAATATAAT ATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96826306	A A	AGACAATA others(22): Show AGACAATATATATATTGAATATATATAGTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(84): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp2 NA18906.hp2 NA18942.hp1 NA18954.hp1 NA18964.hp1 NA18971.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19082.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(17): Show a0002 a0003 a0004 a0008 a0012 a0015 a0016 a0020 a0023 a0026 a0031 a0032 a0034 a0039 a0043 a0051 a0052 a0054 a0056 a0063	a0002c0003 a0002c0058 a0002c0091 others(29): Show a0002c0003 a0002c0058 a0002c0091 a0003c0002 a0003c0016 a0003c0033 a0003c0072 a0004c0005 a0004c0011 a0004c0042 a0004c0081 a0004c0085 a0004c0088 a0008c0009 a0008c0055 a0008c0087 a0012c0021 a0015c0030 a0016c0022 a0020c0024 a0023c0026 a0026c0025 a0031c0074 a0032c0070 a0034c0065 a0039c0039 a0043c0080 a0051c0083 a0052c0051 a0054c0034 a0056c0048 a0063c0099	a0002c0003t0001 a0002c0058t0001 a0002c0091t0001 others(31): Show a0002c0003t0001 a0002c0058t0001 a0002c0091t0001 a0003c0002t0001 a0003c0002t0004 a0003c0016t0001 a0003c0033t0001 a0003c0072t0001 a0004c0005t0001 a0004c0011t0001 a0004c0042t0001 a0004c0081t0001 a0004c0085t0001 a0004c0088t0001 a0008c0009t0001 a0008c0055t0001 a0008c0087t0001 a0012c0021t0001 a0015c0030t0001 a0015c0030t0003 a0016c0022t0001 a0020c0024t0001 a0023c0026t0001 a0026c0025t0001 a0031c0074t0001 a0032c0070t0001 a0034c0065t0001 a0039c0039t0001 a0043c0080t0001 a0051c0083t0001 a0052c0051t0001 a0054c0034t0001 a0056c0048t0001 a0063c0099t0003	a0002c0003t0001g0133 a0002c0003t0001g0155 a0002c0003t0001g0156 others(84): Show a0002c0003t0001g0133 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0177 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0058t0001g0077 a0002c0091t0001g0138 a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0215 a0003c0002t0001g0216 a0003c0002t0001g0219 a0003c0002t0001g0220 a0003c0002t0001g0221 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0230 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0249 a0003c0002t0001g0267 a0003c0002t0004g0265 a0003c0016t0001g0246 a0003c0016t0001g0247 a0003c0016t0001g0248 a0003c0033t0001g0218 a0003c0072t0001g0245 a0004c0005t0001g0007 a0004c0005t0001g0036 a0004c0005t0001g0037 a0004c0005t0001g0052 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0101 a0004c0005t0001g0103 a0004c0005t0001g0231 a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120 a0004c0042t0001g0094 a0004c0081t0001g0128 a0004c0085t0001g0145 a0004c0088t0001g0140 a0008c0009t0001g0019 a0008c0009t0001g0027 a0008c0009t0001g0028 a0008c0009t0001g0063 a0008c0009t0001g0104 a0008c0055t0001g0042 a0008c0087t0001g0178 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 a0015c0030t0001g0193 a0015c0030t0003g0192 a0016c0022t0001g0217 a0016c0022t0001g0223 a0020c0024t0001g0009 a0020c0024t0001g0109 a0023c0026t0001g0031 a0023c0026t0001g0047 a0026c0025t0001g0002 a0026c0025t0001g0003 a0031c0074t0001g0243 a0032c0070t0001g0244 a0034c0065t0001g0212 a0039c0039t0001g0040 a0043c0080t0001g0251 a0051c0083t0001g0130 a0052c0051t0001g0097 a0054c0034t0001g0006 a0056c0048t0001g0008 a0063c0099t0003g0195	87	268	0.3246	29	c.909 others(48): Show c.9097-2707_9097-2679dupGACAATATATATATTGAATATATATA GTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20296284	C C	CCCTTCCC others(22): Show CCCTTCCCTCCTTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03098.hp1 others(3): Show HG02145.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG06807.hp2 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0022 a0001c0001 a0002c0002 a0002c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0022t0002	a0001c0001t0001g0178 a0001c0001t0002g0067 a0001c0001t0003g0127 others(3): Show a0001c0001t0001g0178 a0001c0001t0002g0067 a0001c0001t0003g0127 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0022t0002g0049	6	236	0.0254	29	c.321 others(48): Show c.3217-1894_3217-1866dupTTCCCTCCTTCCCTTCCTTCCTTCCT TCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20296291	C C	CTCCTTCC others(22): Show CTCCTTCCCTTCCTTCCTTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	236	0.0042	29	c.321 others(48): Show c.3217-1867_3217-1839dupCCCTCCTTCCTTCCCTTCCTTCCTTC CTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG01884.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0004 a0003c0003t0002g0005	2	220	0.0091	29	c.-42 others(40): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding		4117		chr10	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0319 a0001c0004t0002g0319	1	322	0.0031	29	c.195 others(48): Show c.195+28076_195+28077insATATATATATATATATATATATATAT TTT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG04199.hp1 NA18995.hp2 HG02293.hp1 HG04199.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0268 a0001c0002t0001g0042 a0001c0002t0001g0086 a0001c0001t0001g0268 a0001c0002t0001g0042 a0001c0002t0001g0086	3	314	0.0096	29	c.651 others(48): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19007.hp1 HG01515.hp2 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0059 a0003c0004t0001g0006 a0001c0002t0001g0059 a0003c0004t0001g0006	2	314	0.0064	29	c.651 others(48): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	314	0.0032	29	c.651 others(48): Show c.651-44507_651-44506insATATATATATATATATATATATATAT ATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349690	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	314	0.0032	29	c.651 others(48): Show c.651-44509_651-44508insATATATATATATATATATATATATAT ATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFI_chr4_109735695_109806999	109753833	A A	ATAATGTA others(22): Show ATAATGTATAATTTTATATTATATATTATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0337 a0001c0001t0003g0338	2	354	0.0057	29	c.905 others(46): Show c.905-1331_905-1330insGATAATATATAATATAAAATTATACATT A	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0008 a0001c0002t0008g0008	1	410	0.0024	29	c.-13 others(40): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0006 a0007c0018t0006	a0007c0018t0006g0249 a0007c0018t0006g0249	1	410	0.0024	29	c.-13 others(40): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG01928.hp2 others(7): Show HG00642.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02155.hp1 HG02622.hp2 NA18951.hp2 NA18977.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0020c0020	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0002t0003 a0002c0002t0029 a0002c0002t0040 a0020c0020t0003	a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0002g0240 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0002g0240 a0001c0001t0002g0255 a0001c0005t0001g0222 a0002c0002t0003g0183 a0002c0002t0003g0194 a0002c0002t0029g0285 a0002c0002t0040g0159 a0020c0020t0003g0253	10	294	0.0340	29	c.-16 others(48): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(22): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0167 a0001c0005t0002g0167	1	294	0.0034	29	c.169 others(46): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGN_chr1_151506387_151543692	151531808	T T	TTTATCAT others(22): Show TTTATCATTTGTCAATGAAAAATGCACATC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18982.hp1 NA18994.hp2 others(4): Show HG02922.hp2 NA18982.hp1 NA18994.hp2 NA19067.hp2 NA19074.hp2 NA19081.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0067 a0001c0001t0001g0257 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0067 a0001c0001t0001g0257 a0001c0001t0001g0260	7	382	0.0183	29	c.257 others(46): Show c.2572-507_2572-479dupCTTATCATTTGTCAATGAAAAATGCACA T	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18956.hp2 NA18988.hp2 HG00597.hp1 NA18956.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137	3	352	0.0085	29	c.-12 others(46): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 NA18747.hp1 others(1): Show HG03490.hp1 HG03490.hp2 NA18747.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 others(1): Show a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282	4	352	0.0114	29	c.-12 others(46): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	384	0.0026	29	c.104 others(44): Show c.104-440_104-412dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	384	0.0026	29	c.137 others(48): Show c.1378-1525_1378-1497dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	216	0.0046	29	c.412 others(48): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	418	0.0024	29	c.34 others(40): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	334	0.0030	29	c.54- others(44): Show c.54-6049_54-6048insATATATATATATATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(22): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03130.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0060 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0060	3	334	0.0090	29	c.53+ others(44): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0044 a0004c0004t0001g0044	1	290	0.0035	29	c.-17 others(48): Show c.-174-5018_-174-5017insTATATATATATATATATATATATATA TAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0164 a0001c0001t0011g0164	1	438	0.0023	29	c.-29 others(40): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	245	0.0041	29	c.83 others(40): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAGAA others(22): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02015.hp1 HG02698.hp1 others(2): Show HG01243.hp1 HG02015.hp1 HG02698.hp1 HG02723.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0003g0159 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0003g0159 a0001c0001t0006g0220 a0001c0001t0008g0192	5	245	0.0204	29	c.116 others(48): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT TTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19003.hp1 HG00609.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0082 a0001c0001t0010g0165 a0001c0001t0001g0082 a0001c0001t0010g0165	2	245	0.0082	29	c.116 others(48): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174961122	A A	AAGGAAGG others(22): Show AAGGAAGGAAGGGAGGAAGGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(93): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG03017.hp1 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19055.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0095 others(93): Show a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0005g0180 a0001c0001t0009g0001 a0001c0001t0015g0261 a0002c0002t0001g0212	96	276	0.3478	29	c.20- others(44): Show c.20-8949_20-8921dupCCCTCCCTTCCCTTCCTCCCTTCCTTCCT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29252574	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0199 a0001c0002t0004g0199	1	232	0.0043	29	c.49+ others(46): Show c.49+57587_49+57588insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	232	0.0086	29	c.49+ others(46): Show c.49+57616_49+57617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	232	0.0043	29	c.577 others(48): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18251734	T T	TTATTTAT others(22): Show TTATTTATTTATTTTAATATATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 HG02630.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0299 a0001c0001t0018g0298 a0001c0001t0005g0299 a0001c0001t0018g0298	2	402	0.0050	29	c.80- others(44): Show c.80-4766_80-4765insATTTTAATATATAAAATAAATATTTATTT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759423	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG00735.hp1 others(19): Show HG00140.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01109.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG02004.hp1 HG02080.hp2 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1 NA18522.hp2 NA19009.hp2 NA19060.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0012g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0012g0002 a0002c0002t0001g0002 a0003c0003t0001g0018	22	392	0.0561	29	c.18 others(40): Show c.1840_*1841insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		489		chr16	TogoVar
CHRM2_chr7_136863652_137025213	136921794	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG03834.hp1 others(1): Show HG01071.hp2 HG01257.hp1 HG03834.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010	a0001c0001t0005g0291 a0001c0001t0008g0087 a0001c0001t0008g0089 others(1): Show a0001c0001t0005g0291 a0001c0001t0008g0087 a0001c0001t0008g0089 a0001c0001t0010g0066	4	320	0.0125	29	c.-12 others(50): Show c.-125+52384_-125+52385insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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