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	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
CFAP298_chr21_32594354_32617377	32612256	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02109.hp1 HG02109.hp2 HG02257.hp2 others(1): Show HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0040 a0001c0002t0041 a0001c0002t0022 a0001c0002t0040 a0001c0002t0041	a0001c0002t0022g0216 a0001c0002t0022g0218 a0001c0002t0040g0217 others(1): Show a0001c0002t0022g0216 a0001c0002t0022g0218 a0001c0002t0040g0217 a0001c0002t0041g0215	4	416	0.0096	c.-13 others(3): Show c.-13C>T	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/7	chr21	TogoVar
CFAP410_chr21_44323944_44344390	44339314	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00609.hp2 HG00642.hp2 HG00733.hp1 others(121): Show HG00609.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0005 a0001c0010 others(5): Show a0001c0002 a0001c0005 a0001c0010 a0002c0004 a0003c0003 a0004c0006 a0004c0014 a0005c0011	a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 others(13): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0026 a0001c0002t0029 a0001c0002t0030 a0001c0005t0003 a0001c0005t0031 a0001c0010t0002 a0002c0004t0002 a0003c0003t0002 a0003c0003t0028 a0004c0006t0003 a0004c0014t0027 a0005c0011t0012 a0005c0011t0025	a0001c0002t0002g0022 a0001c0002t0002g0036 a0001c0002t0002g0043 others(98): Show a0001c0002t0002g0022 a0001c0002t0002g0036 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0234 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0054 a0001c0002t0006g0055 a0001c0002t0006g0057 a0001c0002t0007g0232 a0001c0002t0007g0282 a0001c0002t0007g0283 a0001c0002t0007g0284 a0001c0002t0007g0291 a0001c0002t0026g0254 a0001c0002t0029g0272 a0001c0002t0030g0277 a0001c0005t0003g0014 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0039 a0001c0005t0003g0233 a0001c0005t0003g0235 a0001c0005t0003g0237 a0001c0005t0031g0253 a0001c0010t0002g0227 a0001c0010t0002g0228 a0002c0004t0002g0021 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0239 a0002c0004t0002g0240 a0002c0004t0002g0244 a0002c0004t0002g0245 a0002c0004t0002g0246 a0002c0004t0002g0247 a0002c0004t0002g0248 a0002c0004t0002g0250 a0002c0004t0002g0251 a0002c0004t0002g0265 a0002c0004t0002g0276 a0002c0004t0002g0278 a0002c0004t0002g0280 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0050 a0003c0003t0002g0229 a0003c0003t0002g0236 a0003c0003t0002g0255 a0003c0003t0002g0257 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0281 a0003c0003t0002g0288 a0003c0003t0028g0238 a0004c0006t0003g0040 a0004c0006t0003g0051 a0004c0006t0003g0269 a0004c0006t0003g0270 a0004c0014t0027g0285 a0005c0011t0012g0056 a0005c0011t0025g0268	124	436	0.2844	c.-12 others(4): Show c.-120C>G	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/7	chr21	TogoVar
CFAP410_chr21_44323944_44344390	44339381	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp2 HG02572.hp1 HG02976.hp1 others(3): Show HG01884.hp2 HG02572.hp1 HG02976.hp1 HG03225.hp2 HG03486.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0006 a0005c0011t0012 a0001c0002t0006 a0005c0011t0012	a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0054 others(3): Show a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0054 a0001c0002t0006g0055 a0001c0002t0006g0057 a0005c0011t0012g0056	6	436	0.0138	c.-18 others(4): Show c.-187G>C	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/7	chr21	TogoVar
CFAP90_chr5_7825378_7856133	7851068	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG01074.hp1 HG01074.hp2 others(29): Show HG00140.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01517.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA19030.hp2 NA20300.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0006 a0001c0001 a0004c0004 a0005c0006	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0004c0004t0016 a0005c0006t0011	a0001c0001t0004g0004 a0001c0001t0004g0058 a0001c0001t0004g0165 others(13): Show a0001c0001t0004g0004 a0001c0001t0004g0058 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0011g0174 a0001c0001t0012g0029 a0001c0001t0022g0167 a0004c0004t0016g0172 a0004c0004t0016g0173 a0005c0006t0011g0059	32	420	0.0762	c.-47 others(3): Show c.-47G>T	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/3	chr5	TogoVar
CFAP90_chr5_7825378_7856133	7851119	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG03669.hp1 HG00140.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0060 a0001c0001t0017g0060	2	420	0.0048	c.-98 others(3): Show c.-98C>T	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/3	chr5	TogoVar
CFC1_chr2_130587165_130604575	130599297	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0050 a0001c0001t0008g0050	1	242	0.0041	c.-10 others(3): Show c.-10C>G	CFC1	ENSG00000136698.10	transcript	ENST00000259216.6	protein_coding	1/6	chr2	TogoVar
CFC1_chr2_130587165_130604575	130599526	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0051 a0001c0001t0009g0051	1	242	0.0041	c.-23 others(4): Show c.-239C>T	CFC1	ENSG00000136698.10	transcript	ENST00000259216.6	protein_coding	1/6	chr2	TogoVar
CFDP1_chr16_75288710_75438503	75433431	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0311 a0001c0002t0006g0311	1	314	0.0032	c.-79 others(3): Show c.-79A>T	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	1/7	chr16	TogoVar
CFDP1_chr16_75288710_75438503	75433487	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0314 a0001c0002t0009g0314	1	314	0.0032	c.-13 others(4): Show c.-135A>C	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	1/7	chr16	TogoVar
CFH_chr1_196647043_196752504	196652071	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0290 a0001c0001t0004g0290	1	308	0.0033	c.-47 others(3): Show c.-47T>C	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/22	chr1	TogoVar
CFL1_chr11_65849673_65863180	65858127	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01934.hp2 HG02280.hp2 HG02630.hp2 others(10): Show HG01934.hp2 HG02280.hp2 HG02630.hp2 HG02723.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0006 a0001c0001t0002g0014	13	394	0.0330	c.-28 others(3): Show c.-28G>C	CFL1	ENSG00000172757.13	transcript	ENST00000308162.10	protein_coding	1/4	chr11	TogoVar
CFLAR_chr2_201111164_201181687	201129817	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00642.hp2 HG00741.hp2 others(46): Show HG00280.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01975.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0009 a0001c0001t0032 a0001c0001t0033 others(25): Show a0001c0001t0009 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0031 a0001c0002t0035 a0001c0002t0119 a0001c0002t0120 a0001c0002t0121 a0001c0002t0122 a0001c0002t0123 a0001c0002t0124 a0001c0002t0125 a0001c0002t0126 a0001c0002t0127 a0001c0002t0128 a0003c0008t0012	a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 others(44): Show a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0032g0056 a0001c0001t0032g0063 a0001c0001t0033g0048 a0001c0001t0033g0049 a0001c0001t0034g0059 a0001c0001t0034g0064 a0001c0001t0129g0058 a0001c0001t0130g0055 a0001c0001t0131g0060 a0001c0001t0132g0062 a0001c0001t0133g0057 a0001c0001t0134g0051 a0001c0001t0135g0061 a0001c0002t0007g0006 a0001c0002t0007g0036 a0001c0002t0007g0037 a0001c0002t0007g0038 a0001c0002t0008g0023 a0001c0002t0008g0026 a0001c0002t0008g0028 a0001c0002t0008g0030 a0001c0002t0008g0040 a0001c0002t0012g0005 a0001c0002t0012g0031 a0001c0002t0012g0172 a0001c0002t0013g0002 a0001c0002t0013g0021 a0001c0002t0013g0022 a0001c0002t0013g0024 a0001c0002t0031g0002 a0001c0002t0031g0170 a0001c0002t0035g0032 a0001c0002t0119g0035 a0001c0002t0120g0039 a0001c0002t0121g0002 a0001c0002t0122g0171 a0001c0002t0123g0033 a0001c0002t0124g0005 a0001c0002t0125g0041 a0001c0002t0126g0025 a0001c0002t0127g0027 a0001c0002t0128g0029 a0003c0008t0012g0034	49	234	0.2094	c.-49 others(3): Show c.-49C>T	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	2/10	chr2	TogoVar
CGA_chr6_87080498_87100106	87095064	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	420	0.0024	c.-59 others(3): Show c.-59C>T	CGA	ENSG00000135346.9	transcript	ENST00000627148.3	protein_coding	1/4	chr6	TogoVar
CGB1_chr19_49030569_49041895	49036843	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18944.hp2 NA19012.hp1 NA19054.hp2 NA18944.hp2 NA19012.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	3	376	0.0080	c.-13 others(4): Show c.-132C>A	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding	1/3	chr19	TogoVar
CGB1_chr19_49030569_49041895	49036845	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01070.hp2 HG01071.hp1 HG01884.hp2 others(11): Show HG01070.hp2 HG01071.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp1 NA18522.hp1	a0000 a0002 a0000 a0002	a0000c0003 a0002c0002 a0000c0003 a0002c0002	a0000c0003t0004 a0002c0002t0004 a0000c0003t0004 a0002c0002t0004	a0000c0003t0004g0008 a0002c0002t0004g0006 a0000c0003t0004g0008 a0002c0002t0004g0006	14	376	0.0372	c.-13 others(4): Show c.-134C>T	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding	1/3	chr19	TogoVar
CGB3_chr19_49017869_49029333	49024014	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02717.hp1 HG02895.hp1 HG03471.hp1 others(1): Show HG02717.hp1 HG02895.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0011 a0001c0001t0026g0049 a0001c0001t0007g0011 a0001c0001t0026g0049	4	391	0.0102	c.-43 others(3): Show c.-43C>T	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	1/3	chr19	TogoVar
CGB3_chr19_49017869_49029333	49024108	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0044 a0001c0002t0023g0044	1	391	0.0026	c.-13 others(4): Show c.-137C>T	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	1/3	chr19	TogoVar
CGB3_chr19_49017869_49029333	49024156	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0003t0001 a0001c0003t0013 a0005c0007t0008	a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0006g0012 others(25): Show a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0006g0012 a0001c0001t0006g0043 a0001c0001t0008g0017 a0001c0001t0016g0032 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0009g0013 a0001c0002t0012g0019 a0001c0002t0019g0035 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0002t0022g0042 a0001c0002t0023g0044 a0001c0002t0024g0047 a0001c0002t0025g0048 a0001c0003t0001g0040 a0001c0003t0013g0022 a0005c0007t0008g0031	192	391	0.4911	c.-18 others(4): Show c.-185G>C	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	1/3	chr19	TogoVar
CGB3_chr19_49017869_49029333	49024180	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp2 HG02965.hp1 HG03209.hp2 HG01891.hp2 HG02965.hp1 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0008 a0005c0007t0008 a0001c0001t0008 a0005c0007t0008	a0001c0001t0008g0017 a0005c0007t0008g0031 a0001c0001t0008g0017 a0005c0007t0008g0031	3	391	0.0077	c.-20 others(4): Show c.-209C>T	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	1/3	chr19	TogoVar
CGB3_chr19_49017869_49029333	49024315	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0034 a0001c0001t0018g0034	1	391	0.0026	c.-34 others(4): Show c.-344C>T	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	1/3	chr19	TogoVar
CGB3_chr19_49017869_49029333	49024325	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(182): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0006g0012 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0006g0012 a0001c0001t0006g0043 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0009g0013 a0001c0002t0019g0035 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0002t0022g0042 a0001c0002t0023g0044 a0001c0002t0024g0047 a0001c0002t0025g0048 a0001c0003t0001g0040	185	391	0.4732	c.-35 others(4): Show c.-354T>G	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	1/3	chr19	TogoVar
CGB5_chr19_49038848_49050311	49044025	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0002 a0001c0004t0014g0002	1	382	0.0026	c.-18 others(4): Show c.-185G>C	CGB5	ENSG00000189052.7	transcript	ENST00000301408.7	protein_coding	1/3	chr19	TogoVar
CGB7_chr19_49049274_49062749	49055410	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00609.hp1 HG00733.hp2 HG00735.hp2 others(43): Show HG00609.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02523.hp1 HG02809.hp2 HG03017.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp2 HG04115.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18954.hp2 NA18956.hp1 NA18967.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19066.hp2 NA19067.hp2 NA19081.hp1 NA19083.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0002 a0007c0013 a0009c0015 a0002c0002 a0007c0013 a0009c0015	a0002c0002t0003 a0002c0002t0017 a0007c0013t0003 others(1): Show a0002c0002t0003 a0002c0002t0017 a0007c0013t0003 a0009c0015t0003	a0002c0002t0003g0003 a0002c0002t0017g0024 a0007c0013t0003g0062 others(1): Show a0002c0002t0003g0003 a0002c0002t0017g0024 a0007c0013t0003g0062 a0009c0015t0003g0063	46	422	0.1090	c.-35 others(3): Show c.-35A>G	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/5	chr19	TogoVar
CGB7_chr19_49049274_49062749	49055793	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0044 a0001c0001t0031g0044	1	422	0.0024	c.-41 others(4): Show c.-418A>T	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/5	chr19	TogoVar
CGB7_chr19_49049274_49062749	49055832	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG01255.hp2 HG00099.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0026 a0001c0001t0016g0026	2	422	0.0047	c.-45 others(4): Show c.-457C>T	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/5	chr19	TogoVar
CGB7_chr19_49049274_49062749	49055909	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0037 a0002c0004t0037	a0002c0004t0037g0034 a0002c0004t0037g0034	1	422	0.0024	c.-53 others(4): Show c.-534G>T	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/5	chr19	TogoVar
CGB7_chr19_49049274_49062749	49055910	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0045 a0001c0001t0032g0045	1	422	0.0024	c.-53 others(4): Show c.-535C>T	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/5	chr19	TogoVar
CGB7_chr19_49049274_49062749	49056499	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0037 a0002c0004t0037	a0002c0004t0037g0034 a0002c0004t0037g0034	1	422	0.0024	c.-11 others(5): Show c.-1124C>T	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	3/5	chr19	TogoVar
CGB7_chr19_49049274_49062749	49057664	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0031 a0001c0001t0021g0031	1	422	0.0024	c.-15 others(5): Show c.-1551G>C	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	1/5	chr19	TogoVar
CGB8_chr19_49042638_49054111	49048924	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02647.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	5	394	0.0127	c.-18 others(4): Show c.-185G>C	CGB8	ENSG00000213030.6	transcript	ENST00000448456.4	protein_coding	1/3	chr19	TogoVar
CGB8_chr19_49042638_49054111	49048957	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0025 a0001c0001t0012g0025	1	394	0.0025	c.-21 others(4): Show c.-218C>T	CGB8	ENSG00000213030.6	transcript	ENST00000448456.4	protein_coding	1/3	chr19	TogoVar
CGB8_chr19_49042638_49054111	49049004	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01928.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18954.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0003c0010 others(1): Show a0001c0001 a0001c0008 a0003c0010 a0005c0004	a0001c0001t0002 a0001c0001t0013 a0001c0008t0002 others(2): Show a0001c0001t0002 a0001c0001t0013 a0001c0008t0002 a0003c0010t0002 a0005c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0027 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0013g0031 a0001c0008t0002g0030 a0003c0010t0002g0032 a0005c0004t0002g0026	132	394	0.3350	c.-26 others(4): Show c.-265C>T	CGB8	ENSG00000213030.6	transcript	ENST00000448456.4	protein_coding	1/3	chr19	TogoVar
CGGBP1_chr3_88046950_88064005	88058839	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01081.hp1 HG01257.hp2 HG01496.hp1 others(7): Show HG01081.hp1 HG01257.hp2 HG01496.hp1 HG01516.hp1 HG02683.hp2 HG03669.hp2 NA18944.hp2 NA19011.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	10	358	0.0279	c.-35 others(4): Show c.-355C>G	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding	1/4	chr3	TogoVar
CGGBP1_chr3_88046950_88064005	88058849	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0061 a0001c0001t0036g0061	1	358	0.0028	c.-36 others(4): Show c.-365C>T	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding	1/4	chr3	TogoVar
CGN_chr1_151506387_151543692	151511402	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18945.hp2 NA19067.hp1 NA18945.hp2 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0003 a0002c0002t0022g0003	2	382	0.0052	c.-12 others(4): Show c.-128C>T	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/21	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27119090	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0324 a0002c0003t0018g0324	1	352	0.0028	c.-25 others(4): Show c.-256C>T	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/6	chr2	TogoVar
CHAMP1_chr13_114309503_114332322	114323822	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0007 a0001c0002t0008g0007	1	414	0.0024	c.-21 others(3): Show c.-21G>C	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	3/3	chr13	TogoVar
CHAT_chr10_49609037_49672942	49614134	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0368 a0001c0003t0034g0368	1	418	0.0024	c.-56 others(3): Show c.-56C>T	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	1/15	chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126704282	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0216 a0004c0007t0004g0216	1	216	0.0046	c.-31 others(3): Show c.-31C>T	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	1/8	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126704293	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0216 a0004c0007t0004g0216	1	216	0.0046	c.-20 others(3): Show c.-20C>T	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	1/8	chr3	TogoVar
CHD1_chr5_98848985_98934007	98928962	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0327 a0001c0001t0030g0327	1	334	0.0030	c.-57 others(4): Show c.-572C>T	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	1/36	chr5	TogoVar
CHD5_chr1_6096787_6185321	6180268	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0085 a0001c0019t0085	a0001c0019t0085g0316 a0001c0019t0085g0316	1	320	0.0031	c.-24 others(4): Show c.-245C>G	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	chr1	TogoVar
CHD7_chr8_60673740_60873028	60678877	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00558.hp2 HG00673.hp1 others(26): Show HG00140.hp2 HG00558.hp2 HG00673.hp1 HG01515.hp2 HG02155.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18952.hp1 NA18957.hp1 NA18965.hp1 NA18970.hp2 NA18983.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp1 NA20805.hp1	a0001 a0016 a0018 a0001 a0016 a0018	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0016c0031 a0018c0014	a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 others(5): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0002t0020 a0001c0002t0029 a0001c0010t0011 a0016c0031t0003 a0018c0014t0003	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(26): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0148 a0001c0001t0011g0077 a0001c0001t0011g0083 a0001c0001t0011g0090 a0001c0001t0021g0023 a0001c0001t0021g0094 a0001c0002t0020g0084 a0001c0002t0020g0085 a0001c0002t0029g0088 a0001c0010t0011g0159 a0016c0031t0003g0018 a0018c0014t0003g0017	29	236	0.1229	c.-38 others(4): Show c.-380C>T	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	chr8	TogoVar
CHD8_chr14_21380199_21461123	21456066	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18747.hp1 NA18942.hp1 NA18988.hp1 others(1): Show NA18747.hp1 NA18942.hp1 NA18988.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 others(1): Show a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0002c0002t0004g0257	4	260	0.0154	c.-25 others(4): Show c.-250C>T	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/38	chr14	TogoVar
CHD9NB_chr16_53036484_53057897	53044239	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0099 a0001c0001t0042g0099	1	406	0.0025	c.-81 others(3): Show c.-81C>T	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	3/3	chr16	TogoVar
CHDH_chr3_53807335_53851419	53824040	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0332 a0001c0001t0180g0332	1	392	0.0026	c.-32 others(3): Show c.-32C>T	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	3/9	chr3	TogoVar
CHDH_chr3_53807335_53851419	53846163	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp2 HG01243.hp1 HG01891.hp1 others(17): Show HG01109.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0162 a0001c0001t0180 a0001c0003t0163 others(17): Show a0001c0001t0162 a0001c0001t0180 a0001c0003t0163 a0001c0003t0165 a0001c0003t0166 a0001c0003t0170 a0001c0003t0172 a0001c0003t0173 a0001c0003t0174 a0001c0003t0175 a0001c0003t0176 a0001c0003t0177 a0001c0003t0179 a0002c0002t0058 a0002c0002t0164 a0002c0002t0167 a0002c0002t0168 a0002c0002t0178 a0003c0004t0169 a0003c0004t0171	a0001c0001t0162g0333 a0001c0001t0180g0332 a0001c0003t0163g0323 others(17): Show a0001c0001t0162g0333 a0001c0001t0180g0332 a0001c0003t0163g0323 a0001c0003t0165g0334 a0001c0003t0166g0324 a0001c0003t0170g0326 a0001c0003t0172g0329 a0001c0003t0173g0341 a0001c0003t0174g0336 a0001c0003t0175g0330 a0001c0003t0176g0338 a0001c0003t0177g0331 a0001c0003t0179g0335 a0002c0002t0058g0036 a0002c0002t0164g0328 a0002c0002t0167g0327 a0002c0002t0168g0325 a0002c0002t0178g0337 a0003c0004t0169g0339 a0003c0004t0171g0340	20	392	0.0510	c.-21 others(4): Show c.-211C>T	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/9	chr3	TogoVar
CHGA_chr14_92918150_92940285	92923258	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02109.hp2 HG02109.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0013 a0016c0026t0013	a0016c0026t0013g0044 a0016c0026t0013g0044	1	447	0.0022	c.-10 others(4): Show c.-102G>T	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	1/8	chr14	TogoVar
CHID1_chr11_862859_915810	910797	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02129.hp2 NA18971.hp1 HG02129.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0330 a0001c0001t0031g0329 a0001c0001t0030g0330 a0001c0001t0031g0329	2	386	0.0052	c.-66 others(3): Show c.-66C>T	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	1/13	chr11	TogoVar
CHL1_chr3_191763_414417	244665	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG02717.hp1 HG01884.hp1 HG02717.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0034 a0010c0009t0035 a0010c0009t0034 a0010c0009t0035	a0010c0009t0034g0007 a0010c0009t0035g0108 a0010c0009t0034g0007 a0010c0009t0035g0108	2	290	0.0069	c.-12 others(4): Show c.-122G>C	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/28	chr3	TogoVar

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