Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
POLQ_chr3_121426431_121550988	121545911	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03209.hp1 HG03486.hp1 NA19030.hp1 HG03209.hp1 HG03486.hp1 NA19030.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0004 a0015c0015t0004	a0015c0015t0004g0004 a0015c0015t0004g0005 a0015c0015t0004g0006 a0015c0015t0004g0004 a0015c0015t0004g0005 a0015c0015t0004g0006	3	318	0.0094	c.-34 others(3): Show c.-34G>C	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	1/30	chr3	TogoVar
POLR1C_chr6_43512089_43526513	43517095	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02486.hp1 HG02809.hp2 HG03209.hp1 others(4): Show HG02486.hp1 HG02809.hp2 HG03209.hp1 HG03209.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017	7	380	0.0184	c.-15 others(3): Show c.-15G>A	POLR1C	ENSG00000171453.20	transcript	ENST00000642195.1	protein_coding	1/9	chr6	TogoVar
POLR1E_chr9_37480948_37508697	37485979	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	2	408	0.0049	c.-69 others(3): Show c.-69C>T	POLR1E	ENSG00000137054.16	transcript	ENST00000377798.9	protein_coding	1/12	chr9	TogoVar
POLR1H_chr6_30056265_30069907	30061383	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	445	0.0023	c.-14 others(4): Show c.-142C>T	POLR1H	ENSG00000066379.15	transcript	ENST00000332435.10	protein_coding	1/4	chr6	TogoVar
POLR1H_chr6_30056265_30069907	30061482	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18950.hp1 NA18952.hp1 NA18962.hp1 others(5): Show NA18950.hp1 NA18952.hp1 NA18962.hp1 NA18988.hp2 NA18994.hp1 NA19011.hp2 NA19055.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0009 a0001c0001t0005g0002 a0001c0001t0005g0009	8	445	0.0180	c.-43 others(3): Show c.-43C>G	POLR1H	ENSG00000066379.15	transcript	ENST00000332435.10	protein_coding	1/4	chr6	TogoVar
POLR2H_chr3_184356710_184373591	184363232	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	432	0.0023	c.-26 others(4): Show c.-261C>T	POLR2H	ENSG00000163882.10	transcript	ENST00000456318.6	protein_coding	2/6	chr3	TogoVar
POLR2M_chr15_57701714_57722557	57706816	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp2 NA18522.hp1 HG02258.hp2 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0101 a0002c0003t0013g0115 a0002c0003t0013g0101 a0002c0003t0013g0115	2	404	0.0050	c.-27 others(3): Show c.-27C>T	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	1/4	chr15	TogoVar
POM121C_chr7_75411786_75491299	75475065	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00735.hp1 HG00741.hp1 others(16): Show HG00099.hp2 HG00735.hp1 HG00741.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02074.hp1 HG02698.hp2 HG02717.hp2 HG03486.hp2 HG03491.hp2 NA18522.hp2 NA20905.hp2	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0005 a0007c0009 a0014c0059 a0001c0005 a0007c0009 a0014c0059	a0001c0005t0005 a0001c0005t0023 a0007c0009t0005 others(2): Show a0001c0005t0005 a0001c0005t0023 a0007c0009t0005 a0007c0009t0025 a0014c0059t0005	a0001c0005t0005g0052 a0001c0005t0005g0053 a0001c0005t0005g0060 others(16): Show a0001c0005t0005g0052 a0001c0005t0005g0053 a0001c0005t0005g0060 a0001c0005t0005g0062 a0001c0005t0005g0063 a0001c0005t0005g0090 a0001c0005t0005g0091 a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0023g0003 a0007c0009t0005g0092 a0007c0009t0005g0093 a0007c0009t0005g0094 a0007c0009t0005g0095 a0007c0009t0005g0096 a0007c0009t0005g0097 a0007c0009t0005g0099 a0007c0009t0025g0098 a0014c0059t0005g0061	19	308	0.0617	c.-33 others(4): Show c.-334T>C	POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	2/15	chr7	TogoVar
POM121C_chr7_75411786_75491299	75485901	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01168.hp1 HG02040.hp2 HG01168.hp1 HG02040.hp2	a0003 a0006 a0003 a0006	a0003c0017 a0006c0047 a0003c0017 a0006c0047	a0003c0017t0039 a0006c0047t0040 a0003c0017t0039 a0006c0047t0040	a0003c0017t0039g0294 a0006c0047t0040g0295 a0003c0017t0039g0294 a0006c0047t0040g0295	2	308	0.0065	c.-49 others(4): Show c.-495C>T	POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	1/15	chr7	TogoVar
POM121C_chr7_75411786_75491299	75486258	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01168.hp2 HG01169.hp1 HG01261.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG01261.hp1 HG02486.hp2	a0002 a0024 a0002 a0024	a0002c0012 a0002c0037 a0024c0062 a0002c0012 a0002c0037 a0024c0062	a0002c0012t0012 a0002c0037t0012 a0024c0062t0012 a0002c0012t0012 a0002c0037t0012 a0024c0062t0012	a0002c0012t0012g0303 a0002c0037t0012g0301 a0002c0037t0012g0302 others(1): Show a0002c0012t0012g0303 a0002c0037t0012g0301 a0002c0037t0012g0302 a0024c0062t0012g0304	4	308	0.0130	c.-85 others(4): Show c.-852C>G	POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	1/15	chr7	TogoVar
POMZP3_chr7_76604986_76632279	76626135	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(218): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0004 a0000 a0002 a0004	a0000c0002 a0000c0004 a0000c0005 others(7): Show a0000c0002 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0009 a0000c0010 a0000c0013 a0002c0003 a0004c0012	a0000c0002t0002 a0000c0002t0003 a0000c0002t0004 others(29): Show a0000c0002t0002 a0000c0002t0003 a0000c0002t0004 a0000c0002t0008 a0000c0002t0011 a0000c0002t0013 a0000c0002t0014 a0000c0002t0015 a0000c0002t0016 a0000c0002t0022 a0000c0002t0023 a0000c0002t0024 a0000c0002t0025 a0000c0002t0026 a0000c0002t0027 a0000c0002t0029 a0000c0002t0030 a0000c0004t0003 a0000c0004t0013 a0000c0004t0018 a0000c0005t0004 a0000c0006t0003 a0000c0007t0003 a0000c0009t0003 a0000c0010t0003 a0000c0013t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0012 a0002c0003t0019 a0002c0003t0020 a0004c0012t0028	a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 others(191): Show a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 a0000c0002t0002g0015 a0000c0002t0002g0016 a0000c0002t0002g0087 a0000c0002t0002g0088 a0000c0002t0002g0089 a0000c0002t0002g0090 a0000c0002t0002g0091 a0000c0002t0002g0092 a0000c0002t0002g0093 a0000c0002t0002g0094 a0000c0002t0002g0095 a0000c0002t0002g0096 a0000c0002t0002g0097 a0000c0002t0002g0098 a0000c0002t0002g0099 a0000c0002t0002g0100 a0000c0002t0002g0101 a0000c0002t0002g0102 a0000c0002t0002g0103 a0000c0002t0002g0104 a0000c0002t0002g0105 a0000c0002t0002g0106 a0000c0002t0002g0107 a0000c0002t0002g0108 a0000c0002t0002g0109 a0000c0002t0002g0110 a0000c0002t0002g0111 a0000c0002t0002g0112 a0000c0002t0002g0113 a0000c0002t0002g0114 a0000c0002t0002g0115 a0000c0002t0002g0116 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0002g0119 a0000c0002t0002g0120 a0000c0002t0002g0121 a0000c0002t0002g0122 a0000c0002t0002g0123 a0000c0002t0002g0124 a0000c0002t0002g0125 a0000c0002t0002g0126 a0000c0002t0002g0127 a0000c0002t0002g0128 a0000c0002t0002g0129 a0000c0002t0002g0130 a0000c0002t0002g0131 a0000c0002t0002g0132 a0000c0002t0002g0133 a0000c0002t0002g0134 a0000c0002t0002g0135 a0000c0002t0002g0136 a0000c0002t0002g0137 a0000c0002t0002g0138 a0000c0002t0002g0139 a0000c0002t0002g0140 a0000c0002t0002g0141 a0000c0002t0002g0142 a0000c0002t0002g0143 a0000c0002t0002g0144 a0000c0002t0002g0145 a0000c0002t0002g0146 a0000c0002t0002g0147 a0000c0002t0002g0148 a0000c0002t0002g0149 a0000c0002t0002g0150 a0000c0002t0003g0008 a0000c0002t0003g0018 a0000c0002t0003g0019 a0000c0002t0003g0020 a0000c0002t0003g0155 a0000c0002t0003g0158 a0000c0002t0003g0159 a0000c0002t0003g0160 a0000c0002t0003g0161 a0000c0002t0003g0162 a0000c0002t0003g0163 a0000c0002t0003g0164 a0000c0002t0003g0165 a0000c0002t0003g0166 a0000c0002t0003g0167 a0000c0002t0003g0168 a0000c0002t0003g0169 a0000c0002t0003g0170 a0000c0002t0003g0171 a0000c0002t0003g0172 a0000c0002t0003g0173 a0000c0002t0003g0174 a0000c0002t0003g0175 a0000c0002t0003g0177 a0000c0002t0003g0179 a0000c0002t0003g0180 a0000c0002t0003g0181 a0000c0002t0003g0182 a0000c0002t0003g0183 a0000c0002t0003g0185 a0000c0002t0003g0189 a0000c0002t0004g0023 a0000c0002t0004g0024 a0000c0002t0004g0025 a0000c0002t0004g0026 a0000c0002t0004g0197 a0000c0002t0004g0198 a0000c0002t0004g0208 a0000c0002t0004g0209 a0000c0002t0004g0210 a0000c0002t0004g0211 a0000c0002t0004g0212 a0000c0002t0004g0213 a0000c0002t0004g0214 a0000c0002t0004g0215 a0000c0002t0004g0216 a0000c0002t0004g0217 a0000c0002t0004g0218 a0000c0002t0004g0219 a0000c0002t0004g0220 a0000c0002t0004g0221 a0000c0002t0004g0222 a0000c0002t0004g0223 a0000c0002t0004g0224 a0000c0002t0004g0225 a0000c0002t0004g0226 a0000c0002t0004g0227 a0000c0002t0004g0228 a0000c0002t0004g0229 a0000c0002t0004g0230 a0000c0002t0004g0231 a0000c0002t0004g0232 a0000c0002t0004g0233 a0000c0002t0004g0234 a0000c0002t0004g0235 a0000c0002t0004g0236 a0000c0002t0004g0237 a0000c0002t0004g0238 a0000c0002t0004g0240 a0000c0002t0008g0017 a0000c0002t0008g0153 a0000c0002t0008g0154 a0000c0002t0011g0038 a0000c0002t0011g0345 a0000c0002t0013g0047 a0000c0002t0014g0011 a0000c0002t0015g0199 a0000c0002t0015g0200 a0000c0002t0016g0241 a0000c0002t0016g0242 a0000c0002t0022g0086 a0000c0002t0023g0151 a0000c0002t0024g0152 a0000c0002t0025g0195 a0000c0002t0026g0196 a0000c0002t0027g0156 a0000c0002t0029g0344 a0000c0002t0030g0346 a0000c0004t0003g0176 a0000c0004t0003g0178 a0000c0004t0003g0186 a0000c0004t0003g0187 a0000c0004t0003g0188 a0000c0004t0003g0190 a0000c0004t0003g0191 a0000c0004t0003g0192 a0000c0004t0003g0194 a0000c0004t0013g0048 a0000c0004t0018g0039 a0000c0005t0004g0201 a0000c0005t0004g0202 a0000c0005t0004g0203 a0000c0005t0004g0204 a0000c0005t0004g0205 a0000c0005t0004g0206 a0000c0006t0003g0022 a0000c0006t0003g0184 a0000c0007t0003g0021 a0000c0009t0003g0157 a0000c0010t0003g0193 a0000c0013t0004g0239 a0002c0003t0006g0006 a0002c0003t0006g0040 a0002c0003t0006g0041 a0002c0003t0006g0042 a0002c0003t0006g0043 a0002c0003t0006g0044 a0002c0003t0009g0049 a0002c0003t0009g0050 a0002c0003t0009g0051 a0002c0003t0012g0045 a0002c0003t0012g0046 a0002c0003t0019g0052 a0002c0003t0020g0053 a0004c0012t0028g0207	221	423	0.5225	c.-71 others(3): Show c.-71C>T	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	2/7	chr7	TogoVar
POMZP3_chr7_76604986_76632279	76626154	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03927.hp1 HG03927.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0025 a0000c0002t0025	a0000c0002t0025g0195 a0000c0002t0025g0195	1	423	0.0024	c.-90 others(3): Show c.-90C>G	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	2/7	chr7	TogoVar
POMZP3_chr7_76604986_76632279	76627232	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0053 a0002c0003t0020g0053	1	423	0.0024	c.-67 others(4): Show c.-676G>T	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	1/7	chr7	TogoVar
PON1_chr7_95292676_95329532	95324499	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02738.hp1 HG03239.hp2 HG02738.hp1 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0373 a0002c0002t0016g0374 a0002c0002t0016g0373 a0002c0002t0016g0374	2	434	0.0046	c.-24 others(3): Show c.-24C>T	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	1/9	chr7	TogoVar
POP1_chr8_98112293_98164835	98117329	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01167.hp1 HG01243.hp1 HG01884.hp2 others(14): Show HG01167.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0020	a0001c0001 a0001c0008 a0002c0026 others(3): Show a0001c0001 a0001c0008 a0002c0026 a0003c0005 a0005c0010 a0020c0017	a0001c0001t0005 a0001c0008t0005 a0001c0008t0017 others(4): Show a0001c0001t0005 a0001c0008t0005 a0001c0008t0017 a0002c0026t0011 a0003c0005t0011 a0005c0010t0011 a0020c0017t0005	a0001c0001t0005g0013 a0001c0001t0005g0090 a0001c0001t0005g0092 others(12): Show a0001c0001t0005g0013 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0008t0005g0012 a0001c0008t0005g0078 a0001c0008t0005g0081 a0001c0008t0005g0097 a0001c0008t0017g0080 a0002c0026t0011g0079 a0003c0005t0011g0082 a0005c0010t0011g0091 a0020c0017t0005g0094	17	422	0.0403	c.-64 others(3): Show c.-64C>T	POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding	1/16	chr8	TogoVar
POPDC3_chr6_105152900_105185014	105179854	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03710.hp1 HG04228.hp1 HG03710.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0108 a0001c0001t0012g0109 a0001c0001t0012g0108 a0001c0001t0012g0109	2	258	0.0078	c.-27 others(4): Show c.-273C>T	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding	1/4	chr6	TogoVar
POPDC3_chr6_105152900_105185014	105179960	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp1 HG02258.hp2 HG02451.hp1 others(8): Show HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03516.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0038 a0001c0001t0006g0145 others(2): Show a0001c0001t0006g0005 a0001c0001t0006g0038 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147	11	258	0.0426	c.-37 others(4): Show c.-379G>T	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding	1/4	chr6	TogoVar
POSTN_chr13_37557585_37603768	37598759	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(62): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02698.hp2 HG03453.hp1 HG03669.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2 NA19084.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(57): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0004g0292 a0001c0001t0004g0336 a0001c0001t0010g0344	65	416	0.1563	c.-33 others(3): Show c.-33C>G	POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	1/23	chr13	TogoVar
POTEB2_chr15_20830372_20871314	20866312	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00735.hp2 NA19002.hp1 HG00735.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0004 a0002c0001t0002g0003 a0001c0002t0002g0004 a0002c0001t0002g0003	2	4	0.5000	c.-31 others(3): Show c.-31A>G	POTEB2	ENSG00000230031.10	transcript	ENST00000454856.4	protein_coding	1/11	chr15	TogoVar
POTEB3_chr15_21400401_21445499	21440042	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00597.hp1 HG00597.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0018 a0010c0016t0018	a0010c0016t0018g0019 a0010c0016t0018g0019	1	54	0.0185	c.-31 others(3): Show c.-31A>G	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	1/11	chr15	TogoVar
POTEB_chr15_21841329_21882735	21877277	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00597.hp2 HG01978.hp1 HG02148.hp1 others(3): Show HG00597.hp2 HG01978.hp1 HG02148.hp1 HG02293.hp2 HG02886.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0006 a0003c0011 a0001c0004 a0003c0006 a0003c0011	a0001c0004t0005 a0003c0006t0005 a0003c0011t0005 a0001c0004t0005 a0003c0006t0005 a0003c0011t0005	a0001c0004t0005g0022 a0001c0004t0005g0023 a0001c0004t0005g0024 others(3): Show a0001c0004t0005g0022 a0001c0004t0005g0023 a0001c0004t0005g0024 a0003c0006t0005g0019 a0003c0006t0005g0020 a0003c0011t0005g0021	6	64	0.0938	c.-31 others(3): Show c.-31A>G	POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding	1/11	chr15	TogoVar
POTEC_chr18_14502339_14548600	14543326	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02083.hp2 HG02129.hp1 HG02083.hp2 HG02129.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0055 a0006c0009t0056 a0006c0009t0055 a0006c0009t0056	a0006c0009t0055g0244 a0006c0009t0056g0245 a0006c0009t0055g0244 a0006c0009t0056g0245	2	388	0.0052	c.-18 others(4): Show c.-180G>T	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	1/11	chr18	TogoVar
POTEC_chr18_14502339_14548600	14543453	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(76): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01981.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18939.hp2 NA18944.hp2 NA18962.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18995.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19062.hp1 NA19063.hp2 NA19077.hp1 NA19085.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0015 a0016 others(1): Show a0002 a0015 a0016 a0017	a0002c0002 a0002c0030 a0015c0029 others(2): Show a0002c0002 a0002c0030 a0015c0029 a0016c0028 a0017c0027	a0002c0002t0002 a0002c0002t0011 a0002c0002t0042 others(10): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0065 a0002c0030t0002 a0015c0029t0002 a0016c0028t0002 a0017c0027t0002	a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 others(72): Show a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0011g0016 a0002c0002t0011g0115 a0002c0002t0011g0121 a0002c0002t0011g0127 a0002c0002t0011g0128 a0002c0002t0011g0132 a0002c0002t0042g0129 a0002c0002t0043g0015 a0002c0002t0044g0156 a0002c0002t0045g0160 a0002c0002t0046g0140 a0002c0002t0047g0139 a0002c0002t0065g0352 a0002c0030t0002g0180 a0015c0029t0002g0135 a0016c0028t0002g0143 a0017c0027t0002g0113	79	388	0.2036	c.-30 others(4): Show c.-307T>C	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	1/11	chr18	TogoVar
POTED_chr21_13604777_13650823	13610030	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0146 a0001c0001t0028g0146	1	416	0.0024	c.-19 others(4): Show c.-199G>A	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	1/11	chr21	TogoVar
POTEE_chr2_131204536_131270278	131209594	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02572.hp1 HG02717.hp2 HG02896.hp1 others(2): Show HG02572.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03453.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0004 a0006c0006t0009g0104 a0006c0006t0009g0105 others(1): Show a0006c0006t0009g0004 a0006c0006t0009g0104 a0006c0006t0009g0105 a0006c0006t0009g0107	5	288	0.0174	c.-57 others(4): Show c.-570C>T	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	1/18	chr2	TogoVar
POTEE_chr2_131204536_131270278	131209603	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02886.hp1 NA20300.hp2 HG02886.hp1 NA20300.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0042 a0001c0001 a0023c0042	a0001c0001t0015 a0023c0042t0015 a0001c0001t0015 a0023c0042t0015	a0001c0001t0015g0173 a0023c0042t0015g0145 a0001c0001t0015g0173 a0023c0042t0015g0145	2	288	0.0069	c.-56 others(4): Show c.-561C>T	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	1/18	chr2	TogoVar
POTEE_chr2_131204536_131270278	131209765	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01258.hp2 HG01258.hp2	a0019 a0019	a0019c0059 a0019c0059	a0019c0059t0030 a0019c0059t0030	a0019c0059t0030g0012 a0019c0059t0030g0012	1	288	0.0035	c.-39 others(4): Show c.-399G>T	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	1/18	chr2	TogoVar
POTEE_chr2_131204536_131270278	131211159	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00733.hp1 HG02280.hp1 HG02602.hp2 others(9): Show HG00733.hp1 HG02280.hp1 HG02602.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03688.hp2 HG04204.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0005 a0001c0001t0013 a0012c0016t0005 a0001c0001t0005 a0001c0001t0013 a0012c0016t0005	a0001c0001t0005g0091 a0001c0001t0005g0095 a0001c0001t0005g0115 others(9): Show a0001c0001t0005g0091 a0001c0001t0005g0095 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0281 a0001c0001t0013g0117 a0001c0001t0013g0174 a0012c0016t0005g0256 a0012c0016t0005g0257	12	288	0.0417	c.-21 others(4): Show c.-213C>T	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/18	chr2	TogoVar
POTEE_chr2_131204536_131270278	131218357	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0225 a0001c0001t0025g0225	1	288	0.0035	c.-46 others(3): Show c.-46C>T	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	4/18	chr2	TogoVar
POTEF_chr2_130068535_130134222	130127732	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20300.hp1 NA20300.hp1	a0028 a0028	a0028c0044 a0028c0044	a0028c0044t0018 a0028c0044t0018	a0028c0044t0018g0073 a0028c0044t0018g0073	1	165	0.0061	c.-11 others(4): Show c.-117G>T	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	2/17	chr2	TogoVar
POTEF_chr2_130068535_130134222	130127733	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00544.hp1 HG02015.hp1 NA18989.hp1 HG00544.hp1 HG02015.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0140 a0002c0003t0009g0141 a0002c0003t0009g0142 a0002c0003t0009g0140 a0002c0003t0009g0141 a0002c0003t0009g0142	3	165	0.0182	c.-11 others(4): Show c.-118C>T	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	2/17	chr2	TogoVar
POTEF_chr2_130068535_130134222	130127758	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19240.hp1 NA19240.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0019 a0012c0014t0019	a0012c0014t0019g0090 a0012c0014t0019g0090	1	165	0.0061	c.-14 others(4): Show c.-143C>T	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	2/17	chr2	TogoVar
POTEF_chr2_130068535_130134222	130129119	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02717.hp1 NA19240.hp1 others(1): Show HG02258.hp1 HG02717.hp1 NA19240.hp1 NA21309.hp1	a0012 a0013 a0012 a0013	a0012c0014 a0013c0013 a0012c0014 a0013c0013	a0012c0014t0006 a0012c0014t0019 a0013c0013t0006 a0012c0014t0006 a0012c0014t0019 a0013c0013t0006	a0012c0014t0006g0093 a0012c0014t0019g0090 a0013c0013t0006g0091 others(1): Show a0012c0014t0006g0093 a0012c0014t0019g0090 a0013c0013t0006g0091 a0013c0013t0006g0092	4	165	0.0242	c.-29 others(4): Show c.-297C>T	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	1/17	chr2	TogoVar
POTEF_chr2_130068535_130134222	130129126	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0157 a0002c0002t0022g0157	1	165	0.0061	c.-30 others(4): Show c.-304G>T	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	1/17	chr2	TogoVar
POU4F1_chr13_78593362_78608552	78603389	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02451.hp1 HG06807.hp2 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0023 a0001c0001t0020g0023	2	432	0.0046	c.-63 others(3): Show c.-63C>T	POU4F1	ENSG00000152192.8	transcript	ENST00000377208.7	protein_coding	1/2	chr13	TogoVar
POU4F2_chr4_146633893_146647474	146639004	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19011.hp1 NA19054.hp1 NA19011.hp1 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0002 a0003c0003t0015g0002	2	414	0.0048	c.-13 others(4): Show c.-137G>T	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	1/2	chr4	TogoVar
POU4F2_chr4_146633893_146647474	146639086	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19011.hp1 NA19054.hp1 NA19011.hp1 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0002 a0003c0003t0015g0002	2	414	0.0048	c.-55 others(3): Show c.-55C>T	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	1/2	chr4	TogoVar
POU6F1_chr12_51181936_51223062	51217845	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0363 a0001c0001t0105g0363	1	440	0.0023	c.-25 others(4): Show c.-251C>T	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	1/11	chr12	TogoVar
PPARD_chr6_35337558_35433178	35342565	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0095 a0001c0001t0016g0095	1	238	0.0042	c.-30 others(4): Show c.-302G>C	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	1/8	chr6	TogoVar
PPAT_chr4_56388362_56440615	56435515	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00597.hp2 HG01069.hp2 HG01071.hp2 others(28): Show HG00597.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01496.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG03098.hp2 HG03491.hp1 HG04199.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18999.hp2 NA19000.hp2 NA19012.hp1 NA19078.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0030 others(4): Show a0001c0001t0006 a0001c0001t0019 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034	a0001c0001t0006g0009 a0001c0001t0006g0030 a0001c0001t0006g0031 others(23): Show a0001c0001t0006g0009 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0019g0229 a0001c0001t0019g0230 a0001c0001t0030g0228 a0001c0001t0031g0227 a0001c0001t0032g0226 a0001c0001t0033g0247 a0001c0001t0034g0236	31	384	0.0807	c.-38 others(3): Show c.-38C>T	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	1/11	chr4	TogoVar
PPAT_chr4_56388362_56440615	56435519	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01243.hp2 HG02109.hp2 HG02257.hp2 others(5): Show HG01243.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0284 a0001c0001t0009g0285 others(4): Show a0001c0001t0009g0036 a0001c0001t0009g0284 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289	8	384	0.0208	c.-42 others(3): Show c.-42T>G	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	1/11	chr4	TogoVar
PPCDC_chr15_75018590_75055726	75028258	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	398	0.0025	c.-61 others(3): Show c.-61C>T	PPCDC	ENSG00000138621.12	transcript	ENST00000342932.8	protein_coding	2/6	chr15	TogoVar
PPEF1_chrX_18702645_18832917	18707679	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	224	0.0045	c.-10 others(4): Show c.-102C>T	PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	1/16	chrX	TogoVar
PPFIA1_chr11_70265690_70389396	70270852	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0169 a0001c0001t0016g0169	1	282	0.0036	c.-63 others(3): Show c.-63G>T	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	1/28	chr11	TogoVar
PPFIA4_chr1_203021491_203083736	203026556	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	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0087 a0001c0002t0034g0087	1	418	0.0024	c.-47 others(4): Show c.-473C>T	PPFIA4	ENSG00000143847.16	transcript	ENST00000295706.9	protein_coding	1/30	chr1	TogoVar
PPFIBP2_chr11_7508999_7658756	7514008	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0054 a0002c0003t0007g0054	1	318	0.0031	c.-15 others(4): Show c.-150G>A	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	1/24	chr11	TogoVar
PPIAL4A_chr1_120884771_120895530	120889787	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(173): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000	176	280	0.6286	c.-34 others(3): Show c.-34C>T	PPIAL4A	ENSG00000263353.4	transcript	ENST00000577856.3	protein_coding	1/1	chr1	TogoVar
PPIAL4D_chr1_145236415_145247174	145242158	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	396	0.0025	c.-34 others(3): Show c.-34C>T	PPIAL4D	ENSG00000289549.1	transcript	ENST00000544708.3	protein_coding	1/1	chr1	TogoVar
PPIAL4G_chr1_148477548_148488302	148483283	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	450	0.0022	c.-31 others(3): Show c.-31C>T	PPIAL4G	ENSG00000236334.3	transcript	ENST00000419275.3	protein_coding	1/1	chr1	TogoVar
PPIAL4H_chr1_146339006_146349765	146344740	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0000 a0002c0002t0007g0000	1	416	0.0024	c.-25 others(3): Show c.-25C>T	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding	1/1	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 7409 hits)