JoGo: Joint Open Genome and Omics Platform

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
PTCH1_chr9_95437980_95521971	95516952	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp2 HG02015.hp2 HG02071.hp2 others(3): Show HG00423.hp2 HG02015.hp2 HG02071.hp2 HG04199.hp1 NA18965.hp1 NA19066.hp1	a0001 a0015 a0001 a0015	a0001c0008 a0001c0037 a0015c0038 a0001c0008 a0001c0037 a0015c0038	a0001c0008t0012 a0001c0008t0015 a0001c0037t0024 others(1): Show a0001c0008t0012 a0001c0008t0015 a0001c0037t0024 a0015c0038t0015	a0001c0008t0012g0014 a0001c0008t0012g0017 a0001c0008t0012g0018 others(3): Show a0001c0008t0012g0014 a0001c0008t0012g0017 a0001c0008t0012g0018 a0001c0008t0015g0015 a0001c0037t0024g0016 a0015c0038t0015g0019	6	278	0.0216	c.-13 others(4): Show c.-132G>A	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	1/24	chr9	TogoVar
PTDSS2_chr11_445279_496399	450366	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	c.-90 others(3): Show c.-90C>G	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/12	chr11	TogoVar
PTEN_chr10_87858625_87976930	87864121	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0136 a0001c0001t0108g0136	1	322	0.0031	c.-34 others(4): Show c.-349C>T	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	1/9	chr10	TogoVar
PTGER2_chr14_52309312_52333598	52314510	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	2	418	0.0048	c.-39 others(3): Show c.-39C>T	PTGER2	ENSG00000125384.7	transcript	ENST00000245457.6	protein_coding	1/2	chr14	TogoVar
PTGER3_chr1_70965782_71052816	71047606	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp2 HG00741.hp1 HG01168.hp1 others(4): Show HG00280.hp2 HG00741.hp1 HG01168.hp1 HG01981.hp1 HG02698.hp1 HG03654.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 others(4): Show a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360	7	372	0.0188	c.-29 others(3): Show c.-29C>T	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/4	chr1	TogoVar
PTGER3_chr1_70965782_71052816	71047746	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0361 a0001c0002t0010g0361	1	372	0.0027	c.-16 others(4): Show c.-169C>T	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/4	chr1	TogoVar
PTGFR_chr1_78485974_78545701	78491125	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03540.hp1 HG03579.hp2 NA18522.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0030 a0001c0002t0031 a0004c0006t0032 a0001c0001t0030 a0001c0002t0031 a0004c0006t0032	a0001c0001t0030g0248 a0001c0002t0031g0322 a0004c0006t0032g0143 a0001c0001t0030g0248 a0001c0002t0031g0322 a0004c0006t0032g0143	3	386	0.0078	c.-18 others(4): Show c.-184C>T	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	1/3	chr1	TogoVar
PTHLH_chr12_27953084_27977733	27970194	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02109.hp1 HG02145.hp1 HG02451.hp1 others(1): Show HG02109.hp1 HG02145.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0125 others(1): Show a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0125 a0001c0001t0009g0195	4	456	0.0088	c.-19 others(4): Show c.-192A>T	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	3/6	chr12	TogoVar
PTHLH_chr12_27953084_27977733	27972691	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0239 a0001c0001t0014g0239	1	456	0.0022	c.-52 others(4): Show c.-527T>C	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	1/6	chr12	TogoVar
PTK2B_chr8_27320552_27464386	27325582	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	328	0.0031	c.-13 others(4): Show c.-137T>C	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/31	chr8	TogoVar
PTK6_chr20_63523001_63542376	63537322	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0275 a0001c0003t0035g0275	1	344	0.0029	c.-8C others(2): Show c.-8C>T	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/8	chr20	TogoVar
PTMS_chr12_6761363_6775952	6766589	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	452	0.0022	c.-11 others(4): Show c.-117C>T	PTMS	ENSG00000159335.19	transcript	ENST00000309083.8	protein_coding	1/5	chr12	TogoVar
PTP4A1_chr6_63567480_63588588	63572674	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0001 a0001c0001t0037g0001	1	360	0.0028	c.-49 others(4): Show c.-491C>T	PTP4A1	ENSG00000112245.13	transcript	ENST00000626021.3	protein_coding	1/6	chr6	TogoVar
PTP4A3_chr8_141387021_141437454	141421467	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0043 a0001c0001t0039g0043	1	323	0.0031	c.-77 others(4): Show c.-774C>T	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	2/6	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141422113	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02896.hp1 HG02965.hp1 HG03453.hp1 others(1): Show HG02896.hp1 HG02965.hp1 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0018 a0001c0001t0019	a0001c0001t0018g0046 a0001c0001t0018g0068 a0001c0001t0019g0006 a0001c0001t0018g0046 a0001c0001t0018g0068 a0001c0001t0019g0006	4	323	0.0124	c.-12 others(4): Show c.-128C>T	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	2/6	chr8	TogoVar
PTPA_chr9_129106415_129153946	129111435	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	2	334	0.0060	c.-16 others(4): Show c.-166C>G	PTPA	ENSG00000119383.21	transcript	ENST00000393370.7	protein_coding	1/10	chr9	TogoVar
PTPN11_chr12_112413947_112514918	112418991	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0279 a0001c0001t0022g0279	1	300	0.0033	c.-12 others(4): Show c.-121G>T	PTPN11	ENSG00000179295.19	transcript	ENST00000351677.7	protein_coding	1/16	chr12	TogoVar
PTPN18_chr2_130351056_130380405	130356079	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0054 a0002c0004t0013g0201 a0002c0004t0013g0054 a0002c0004t0013g0201	3	380	0.0079	c.-29 others(3): Show c.-29C>T	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	1/15	chr2	TogoVar
PTPN21_chr14_88460778_88560007	88554720	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01358.hp2 HG01358.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0041 a0011c0016t0041	a0011c0016t0041g0257 a0011c0016t0041g0257	1	348	0.0029	c.-27 others(4): Show c.-272G>T	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	1/19	chr14	TogoVar
PTPN21_chr14_88460778_88560007	88554728	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0100 a0003c0003t0019g0101 a0003c0003t0019g0100 a0003c0003t0019g0101	2	348	0.0058	c.-28 others(4): Show c.-280C>T	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	1/19	chr14	TogoVar
PTPN21_chr14_88460778_88560007	88554750	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02040.hp2 NA18980.hp1 HG02040.hp2 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0102 a0002c0002t0020g0103 a0002c0002t0020g0102 a0002c0002t0020g0103	2	348	0.0058	c.-30 others(4): Show c.-302G>T	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	1/19	chr14	TogoVar
PTPN9_chr15_75458251_75584315	75578952	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0047 a0001c0001t0046 a0001c0001t0047	a0001c0001t0046g0324 a0001c0001t0047g0323 a0001c0001t0046g0324 a0001c0001t0047g0323	2	326	0.0061	c.-17 others(4): Show c.-176C>G	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/13	chr15	TogoVar
PTPRA_chr20_2868481_3043669	2923218	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp2 HG00741.hp1 HG01070.hp2 others(25): Show HG00423.hp2 HG00741.hp1 HG01070.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02148.hp2 HG02293.hp2 HG03669.hp2 NA18963.hp1 NA18964.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18990.hp1 NA19012.hp1 NA19060.hp1 NA19070.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0018 a0001c0004 a0005c0018	a0001c0004t0002 a0001c0004t0004 a0005c0018t0004 a0001c0004t0002 a0001c0004t0004 a0005c0018t0004	a0001c0004t0002g0176 a0001c0004t0002g0177 a0001c0004t0002g0178 others(25): Show a0001c0004t0002g0176 a0001c0004t0002g0177 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0180 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0187 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0193 a0001c0004t0002g0194 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0004t0002g0209 a0001c0004t0004g0171 a0001c0004t0004g0173 a0001c0004t0004g0174 a0001c0004t0004g0175 a0001c0004t0004g0195 a0005c0018t0004g0172	28	356	0.0787	c.-11 others(4): Show c.-117A>G	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	2/24	chr20	TogoVar
PTPRD_chr9_8309246_10618002	10033774	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG01109.hp2 HG01243.hp1 others(10): Show HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp1 HG02683.hp1 HG02683.hp2 HG03225.hp2 HG03579.hp2 HG03834.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0002c0009	a0001c0001t0014 a0001c0001t0019 a0001c0002t0003 others(10): Show a0001c0001t0014 a0001c0001t0019 a0001c0002t0003 a0001c0002t0015 a0001c0003t0004 a0001c0004t0003 a0001c0004t0018 a0001c0006t0026 a0001c0010t0017 a0001c0012t0016 a0001c0014t0025 a0001c0018t0004 a0002c0009t0006	a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0002t0003g0024 others(10): Show a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0004g0027 a0001c0004t0003g0001 a0001c0004t0018g0015 a0001c0006t0026g0034 a0001c0010t0017g0016 a0001c0012t0016g0028 a0001c0014t0025g0033 a0001c0018t0004g0020 a0002c0009t0006g0007	13	34	0.3824	c.-52 others(4): Show c.-528C>T	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/46	chr9	TogoVar
PTPRR_chr12_70633079_70925738	70920629	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0203 a0002c0002t0004g0203	1	204	0.0049	c.-23 others(4): Show c.-239C>T	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	1/14	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5286214	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0161 a0001c0001t0047g0161	1	276	0.0036	c.-74 others(3): Show c.-74C>T	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	2/38	chr19	TogoVar
PTPRU_chr1_29231522_29331800	29236547	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(44): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02155.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG03017.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19084.hp2 NA19086.hp2 NA20752.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0012 a0014	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0002c0002 a0002c0004 a0002c0006 a0006c0033 a0012c0021 a0014c0034	a0001c0001t0002 a0001c0003t0002 a0001c0005t0005 others(8): Show a0001c0001t0002 a0001c0003t0002 a0001c0005t0005 a0001c0008t0005 a0002c0002t0002 a0002c0002t0012 a0002c0004t0002 a0002c0006t0002 a0006c0033t0002 a0012c0021t0002 a0014c0034t0002	a0001c0001t0002g0072 a0001c0001t0002g0214 a0001c0001t0002g0215 others(44): Show a0001c0001t0002g0072 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0259 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0003t0002g0220 a0001c0003t0002g0223 a0001c0003t0002g0235 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0005t0005g0205 a0001c0005t0005g0216 a0001c0005t0005g0218 a0001c0005t0005g0229 a0001c0008t0005g0146 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0012g0226 a0002c0004t0002g0224 a0002c0004t0002g0231 a0002c0004t0002g0237 a0002c0004t0002g0242 a0002c0004t0002g0246 a0002c0004t0002g0276 a0002c0006t0002g0252 a0006c0033t0002g0228 a0012c0021t0002g0219 a0014c0034t0002g0239	47	296	0.1588	c.-98 others(3): Show c.-98C>T	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	1/30	chr1	TogoVar
PTTG1IP_chr21_44844598_44878690	44873667	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp1 HG03669.hp2 HG04199.hp1 HG03486.hp1 HG03669.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0033 a0001c0001t0019 a0001c0001t0033	a0001c0001t0019g0313 a0001c0001t0019g0314 a0001c0001t0033g0312 a0001c0001t0019g0313 a0001c0001t0019g0314 a0001c0001t0033g0312	3	444	0.0068	c.-51 others(3): Show c.-51C>T	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	1/6	chr21	TogoVar
PUM3_chr9_2799152_2849095	2844077	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0007 a0017c0021t0007	a0017c0021t0007g0312 a0017c0021t0007g0312	1	420	0.0024	c.-43 others(3): Show c.-43C>T	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	1/18	chr9	TogoVar
PURG_chr8_31025850_31038356	31033232	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	402	0.0025	c.-16 others(4): Show c.-161C>T	PURG	ENSG00000172733.12	transcript	ENST00000523392.2	protein_coding	1/2	chr8	TogoVar
PUS10_chr2_60935223_61023255	61018063	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp2 HG02109.hp1 HG02451.hp1 others(20): Show HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0003 a0002c0003t0003 a0001c0001t0003 a0001c0002t0003 a0002c0003t0003	a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0015 others(19): Show a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0018 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0002c0003t0003g0010	23	246	0.0935	c.-71 others(3): Show c.-71T>C	PUS10	ENSG00000162927.14	transcript	ENST00000316752.11	protein_coding	1/18	chr2	TogoVar
PUS10_chr2_60935223_61023255	61018248	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	246	0.0081	c.-25 others(4): Show c.-256T>C	PUS10	ENSG00000162927.14	transcript	ENST00000316752.11	protein_coding	1/18	chr2	TogoVar
PUS1_chr12_131924276_131950896	131929541	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00438.hp1 HG00597.hp2 others(59): Show HG00280.hp1 HG00438.hp1 HG00597.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG01433.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18974.hp2 NA18991.hp2 NA18993.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0015 others(26): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0008g0014 a0001c0001t0008g0025 a0001c0001t0008g0029 a0001c0001t0008g0074 a0001c0001t0008g0075 a0001c0001t0015g0073 a0001c0001t0015g0085 a0001c0001t0015g0086 a0001c0001t0042g0004 a0001c0001t0043g0012 a0001c0001t0044g0029 a0001c0001t0045g0015 a0001c0001t0046g0003	62	382	0.1623	c.-18 others(4): Show c.-182C>T	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding	1/6	chr12	TogoVar
PUS3_chr11_125888485_125908206	125896309	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(354): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0014 a0003c0004 others(9): Show a0001c0001 a0001c0014 a0003c0004 a0003c0008 a0003c0009 a0004c0003 a0005c0005 a0006c0007 a0007c0011 a0008c0015 a0010c0012 a0011c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0014t0001 a0003c0004t0001 a0003c0004t0004 a0003c0004t0009 a0003c0004t0011 a0003c0008t0004 a0003c0009t0004 a0004c0003t0002 a0004c0003t0012 a0005c0005t0001 a0006c0007t0001 a0006c0007t0004 a0007c0011t0002 a0008c0015t0005 a0010c0012t0004 a0011c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0005g0003 a0001c0001t0005g0010 a0001c0001t0005g0016 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0129 a0001c0001t0006g0006 a0001c0001t0006g0027 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0010g0053 a0001c0001t0013g0054 a0001c0014t0001g0127 a0003c0004t0001g0102 a0003c0004t0004g0002 a0003c0004t0004g0015 a0003c0004t0004g0031 a0003c0004t0004g0033 a0003c0004t0004g0035 a0003c0004t0004g0036 a0003c0004t0004g0041 a0003c0004t0004g0094 a0003c0004t0004g0096 a0003c0004t0004g0097 a0003c0004t0004g0103 a0003c0004t0009g0030 a0003c0004t0009g0034 a0003c0004t0011g0101 a0003c0008t0004g0088 a0003c0008t0004g0089 a0003c0009t0004g0108 a0003c0009t0004g0111 a0004c0003t0002g0004 a0004c0003t0002g0009 a0004c0003t0002g0020 a0004c0003t0002g0032 a0004c0003t0002g0037 a0004c0003t0002g0038 a0004c0003t0002g0039 a0004c0003t0002g0093 a0004c0003t0002g0095 a0004c0003t0002g0105 a0004c0003t0002g0106 a0004c0003t0002g0112 a0004c0003t0002g0113 a0004c0003t0002g0118 a0004c0003t0002g0122 a0004c0003t0002g0123 a0004c0003t0002g0137 a0004c0003t0012g0109 a0005c0005t0001g0024 a0005c0005t0001g0130 a0006c0007t0001g0100 a0006c0007t0004g0098 a0006c0007t0004g0099 a0007c0011t0002g0114 a0008c0015t0005g0056 a0010c0012t0004g0104 a0011c0010t0001g0136	357	450	0.7933	c.-25 others(3): Show c.-25C>G	PUS3	ENSG00000110060.9	transcript	ENST00000227474.8	protein_coding	2/4	chr11	TogoVar
PUS7_chr7_105451503_105527271	105522092	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0299 a0001c0001t0015g0299	1	350	0.0029	c.-73 others(3): Show c.-73C>T	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/16	chr7	TogoVar
PUS7_chr7_105451503_105527271	105522260	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00597.hp2 HG00609.hp1 HG01070.hp2 others(16): Show HG00597.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG02027.hp2 HG02135.hp2 HG02155.hp2 HG02735.hp1 HG02738.hp1 HG03098.hp1 HG03831.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18946.hp1 NA18956.hp1 NA18989.hp2 NA19062.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019	a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 others(16): Show a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0006g0344 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0019g0332	19	350	0.0543	c.-24 others(4): Show c.-241G>T	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/16	chr7	TogoVar
PVALEF_chr17_81160507_81188166	81181186	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02717.hp2 HG02886.hp2 HG02896.hp2 others(2): Show HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0034 a0004c0006t0009g0058 a0004c0006t0009g0105 others(1): Show a0004c0006t0009g0034 a0004c0006t0009g0058 a0004c0006t0009g0105 a0004c0006t0009g0171	5	408	0.0123	c.-41 others(3): Show c.-41G>A	PVALEF	ENSG00000225180.8	transcript	ENST00000637878.2	protein_coding	4/7	chr17	TogoVar
PVR_chr19_44638910_44671162	44644040	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(127): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp2 NA19072.hp1 NA19083.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0009 a0001c0001 a0003c0003 a0008c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(45): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0114 a0001c0001t0116 a0001c0001t0120 a0003c0003t0007 a0003c0003t0044 a0003c0003t0045 a0003c0003t0046 a0003c0003t0047 a0003c0003t0104 a0003c0003t0107 a0003c0003t0108 a0003c0003t0109 a0003c0003t0110 a0003c0003t0111 a0003c0003t0112 a0003c0003t0113 a0003c0003t0115 a0003c0003t0117 a0003c0003t0118 a0003c0003t0119 a0008c0009t0099	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 others(109): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0007g0013 a0001c0001t0007g0058 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0007g0073 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0010g0009 a0001c0001t0010g0015 a0001c0001t0010g0055 a0001c0001t0010g0080 a0001c0001t0010g0083 a0001c0001t0010g0085 a0001c0001t0010g0091 a0001c0001t0010g0092 a0001c0001t0010g0094 a0001c0001t0023g0089 a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0038 a0001c0001t0024g0114 a0001c0001t0038g0035 a0001c0001t0039g0148 a0001c0001t0039g0150 a0001c0001t0040g0152 a0001c0001t0040g0153 a0001c0001t0041g0072 a0001c0001t0041g0075 a0001c0001t0042g0009 a0001c0001t0042g0078 a0001c0001t0043g0013 a0001c0001t0043g0015 a0001c0001t0046g0095 a0001c0001t0090g0103 a0001c0001t0091g0151 a0001c0001t0092g0155 a0001c0001t0093g0224 a0001c0001t0094g0154 a0001c0001t0095g0010 a0001c0001t0096g0090 a0001c0001t0097g0010 a0001c0001t0098g0101 a0001c0001t0100g0106 a0001c0001t0101g0030 a0001c0001t0102g0030 a0001c0001t0103g0223 a0001c0001t0105g0099 a0001c0001t0106g0098 a0001c0001t0114g0111 a0001c0001t0116g0015 a0001c0001t0120g0149 a0003c0003t0007g0014 a0003c0003t0007g0033 a0003c0003t0007g0065 a0003c0003t0007g0066 a0003c0003t0044g0014 a0003c0003t0045g0034 a0003c0003t0045g0096 a0003c0003t0046g0097 a0003c0003t0047g0067 a0003c0003t0047g0068 a0003c0003t0104g0014 a0003c0003t0107g0032 a0003c0003t0108g0113 a0003c0003t0109g0100 a0003c0003t0110g0128 a0003c0003t0111g0032 a0003c0003t0112g0034 a0003c0003t0113g0112 a0003c0003t0115g0033 a0003c0003t0117g0071 a0003c0003t0118g0069 a0003c0003t0119g0070 a0008c0009t0099g0087	130	412	0.3155	c.-57 others(3): Show c.-57G>T	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/8	chr19	TogoVar
PWP1_chr12_107680799_107718162	107685856	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	342	0.0029	c.-44 others(3): Show c.-44A>G	PWP1	ENSG00000136045.12	transcript	ENST00000412830.8	protein_coding	1/15	chr12	TogoVar
PWWP2A_chr5_160086339_160124450	160119420	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0380 a0001c0001t0058g0380	1	384	0.0026	c.-32 others(3): Show c.-32C>T	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/2	chr5	TogoVar
PWWP4_chrX_153261152_153284145	153267974	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0016 a0007c0022t0016	a0007c0022t0016g0029 a0007c0022t0016g0029	1	141	0.0071	c.-46 others(4): Show c.-461C>T	PWWP4	ENSG00000278803.3	transcript	ENST00000458091.5	protein_coding	2/4	chrX	TogoVar
PWWP4_chrX_153261152_153284145	153271518	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02559.hp1 HG02559.hp1	a0048 a0048	a0048c0016 a0048c0016	a0048c0016t0009 a0048c0016t0009	a0048c0016t0009g0026 a0048c0016t0009g0026	1	141	0.0071	c.-10 others(4): Show c.-100A>T	PWWP4	ENSG00000278803.3	transcript	ENST00000458091.5	protein_coding	4/4	chrX	TogoVar
PXK_chr3_58327892_58431127	58332950	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00280.hp1 HG00735.hp2 others(24): Show HG00099.hp1 HG00280.hp1 HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0004t0005	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(24): Show a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0022 a0001c0001t0006g0287 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0006g0295 a0001c0001t0008g0288 a0001c0001t0008g0291 a0001c0001t0008g0296 a0001c0004t0005g0020 a0001c0004t0005g0021	27	300	0.0900	c.-39 others(3): Show c.-39A>G	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/18	chr3	TogoVar
PXT1_chr6_36385551_36447854	36442609	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02886.hp1 HG03471.hp2 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0362 a0001c0001t0009g0363 a0001c0001t0008g0362 a0001c0001t0009g0363	2	390	0.0051	c.-20 others(4): Show c.-204A>G	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	1/5	chr6	TogoVar
PXT1_chr6_36385551_36447854	36442771	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02886.hp1 HG03471.hp2 HG03540.hp2 others(1): Show HG02886.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0008g0362 a0001c0001t0009g0363 a0001c0001t0010g0365 others(1): Show a0001c0001t0008g0362 a0001c0001t0009g0363 a0001c0001t0010g0365 a0001c0001t0011g0364	4	390	0.0103	c.-36 others(4): Show c.-366A>T	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	1/5	chr6	TogoVar
PYCR2_chr1_225914878_225929250	225924210	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	448	0.0022	c.-10 others(4): Show c.-100C>T	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding	1/7	chr1	TogoVar
PYCR2_chr1_225914878_225929250	225924237	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0045 a0001c0001t0014g0045	1	448	0.0022	c.-12 others(4): Show c.-127C>T	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding	1/7	chr1	TogoVar
PYDC5_chr1_158994971_159007751	159000343	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02572.hp2 HG02622.hp2 HG02922.hp1 HG02572.hp2 HG02622.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0010 a0001c0001t0014	a0001c0001t0010g0000 a0001c0001t0014g0000 a0001c0001t0010g0000 a0001c0001t0014g0000	3	460	0.0065	c.-31 others(3): Show c.-31T>C	PYDC5	ENSG00000289721.1	transcript	ENST00000696987.1	protein_coding	1/1	chr1	TogoVar
PYDC5_chr1_158994971_159007751	159002547	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 HG00673.hp2 HG02027.hp2 others(66): Show HG00408.hp1 HG00673.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03491.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19055.hp2 NA19058.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 others(4): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0004t0004	a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 others(4): Show a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 a0002c0002t0004g0000 a0002c0002t0008g0000 a0002c0002t0009g0000 a0002c0004t0004g0000	69	460	0.1500	c.-22 others(5): Show c.-2235C>T	PYDC5	ENSG00000289721.1	transcript	ENST00000696987.1	protein_coding	1/1	chr1	TogoVar
PYGL_chr14_50900217_50949483	50944474	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	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	390	0.0026	c.-71 others(3): Show c.-71C>T	PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	1/20	chr14	TogoVar

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