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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Select column to sort.

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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
PAGE3_chrX_55253415_55269916	55264615	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0022 a0002c0003t0008g0022	1	333	0.0030	c.-78 others(3): Show c.-78C>T	PAGE3	ENSG00000204279.8	transcript	ENST00000374951.6	protein_coding	1/5	chrX	TogoVar
PAGE3_chrX_55253415_55269916	55264869	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	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0049 a0001c0002t0010g0049	1	333	0.0030	c.-33 others(4): Show c.-332C>T	PAGE3	ENSG00000204279.8	transcript	ENST00000374951.6	protein_coding	1/5	chrX	TogoVar
PAGE4_chrX_49824303_49839264	49830410	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG02486.hp1 HG01884.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	2	290	0.0069	c.-19 others(3): Show c.-19C>T	PAGE4	ENSG00000101951.17	transcript	ENST00000218068.7	protein_coding	2/5	chrX	TogoVar
PAIP1_chr5_43521267_43562077	43556874	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00544.hp1 HG02071.hp1 HG02129.hp2 others(13): Show HG00544.hp1 HG02071.hp1 HG02129.hp2 HG02165.hp1 HG03834.hp2 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18970.hp1 NA18981.hp2 NA19001.hp2 NA19003.hp1 NA19065.hp1 NA19072.hp1 NA19076.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 others(13): Show a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325	16	350	0.0457	c.-28 others(3): Show c.-28C>T	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	1/11	chr5	TogoVar
PAIP2_chr5_139336854_139374717	139341903	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0262 a0001c0001t0002g0265	2	344	0.0058	c.-10 others(4): Show c.-104G>T	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	1/4	chr5	TogoVar
PAK4_chr19_39120786_39184404	39168240	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02572.hp1 HG02818.hp1 HG03540.hp1 HG02572.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0009g0155	3	368	0.0082	c.-85 others(3): Show c.-85C>T	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	2/10	chr19	TogoVar
PAK4_chr19_39120786_39184404	39169547	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0235 a0001c0001t0022g0235	1	368	0.0027	c.-7C others(2): Show c.-7C>T	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	3/10	chr19	TogoVar
PAK6_chr15_40234063_40282487	40239346	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0232 a0001c0002t0049g0232	1	426	0.0024	c.-65 others(4): Show c.-657G>A	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	1/11	chr15	TogoVar
PAK6_chr15_40234063_40282487	40239646	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0050 a0002c0003t0050	a0002c0003t0050g0294 a0002c0003t0050g0294	1	426	0.0024	c.-35 others(4): Show c.-357T>C	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	1/11	chr15	TogoVar
PALB2_chr16_23598165_23646310	23641188	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	326	0.0031	c.-31 others(3): Show c.-31C>T	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	1/13	chr16	TogoVar
PALMD_chr1_99641113_99699535	99646146	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19010.hp1 NA19012.hp1 NA19056.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245	3	380	0.0079	c.-17 others(4): Show c.-172C>A	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/8	chr1	TogoVar
PAM16_chr16_4335251_4356321	4351283	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02818.hp1 HG02896.hp2 HG02818.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0246 a0001c0001t0003g0247	2	367	0.0055	c.-49 others(3): Show c.-49C>T	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/5	chr16	TogoVar
PAN3_chr13_28133545_28300335	28138594	C C	T T	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	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0088 a0001c0001t0055g0088	1	252	0.0040	c.-64 others(3): Show c.-64C>T	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	1/19	chr13	TogoVar
PANK1_chr10_89577988_89650242	89645097	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	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0328 a0001c0001t0021g0328	1	366	0.0027	c.-20 others(4): Show c.-206C>T	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	1/7	chr10	TogoVar
PANX1_chr11_94123841_94186968	94128918	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00741.hp1 HG01978.hp2 HG00741.hp1 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0274 a0003c0003t0016g0316 a0003c0003t0016g0274 a0003c0003t0016g0316	2	408	0.0049	c.-39 others(4): Show c.-395T>G	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/5	chr11	TogoVar
PAPOLB_chr7_4852738_4867030	4862002	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03209.hp1 HG03225.hp2 HG03209.hp1 HG03225.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0018 a0004c0006t0018	a0004c0006t0018g0000 a0004c0006t0018g0000	2	438	0.0046	c.-19 others(4): Show c.-192C>T	PAPOLB	ENSG00000218823.2	transcript	ENST00000404991.2	protein_coding	1/1	chr7	TogoVar
PAPPA2_chr1_176458175_176850601	176555958	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0048 a0001c0001t0050g0048	1	118	0.0085	c.-36 others(4): Show c.-365C>T	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	2/23	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87659911	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0064 a0002c0004t0064	a0002c0004t0064g0172 a0002c0004t0064g0172	1	372	0.0027	c.-71 others(3): Show c.-71C>T	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/13	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87659914	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG01884.hp2 HG02451.hp1 others(9): Show HG01884.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0047 others(5): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052	a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 others(9): Show a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0020g0157 a0001c0001t0020g0160 a0001c0001t0020g0164 a0001c0001t0047g0161 a0001c0001t0048g0158 a0001c0001t0049g0156 a0001c0001t0050g0167 a0001c0001t0051g0162 a0001c0001t0052g0159	12	372	0.0323	c.-68 others(3): Show c.-68C>T	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/13	chr10	TogoVar
PAQR3_chr4_78906878_78944438	78939384	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0041 a0001c0001t0051g0041	1	334	0.0030	c.-16 others(4): Show c.-160G>C	PAQR3	ENSG00000163291.14	transcript	ENST00000512733.5	protein_coding	1/6	chr4	TogoVar
PARD3_chr10_34104561_34820296	34815098	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02083.hp2 HG02280.hp1 HG03688.hp1 others(3): Show HG02083.hp2 HG02280.hp1 HG03688.hp1 HG03704.hp1 NA18975.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0007 a0001c0001 a0001c0003 a0005c0007	a0001c0001t0008 a0001c0003t0008 a0001c0003t0010 others(2): Show a0001c0001t0008 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0005c0007t0008	a0001c0001t0008g0041 a0001c0003t0008g0046 a0001c0003t0010g0042 others(3): Show a0001c0001t0008g0041 a0001c0003t0008g0046 a0001c0003t0010g0042 a0001c0003t0010g0045 a0001c0003t0018g0044 a0005c0007t0008g0043	6	100	0.0600	c.-10 others(4): Show c.-103C>T	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/25	chr10	TogoVar
PARD6G_chr18_80152232_80252514	80247464	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp2 HG02257.hp2 HG03579.hp1 others(1): Show HG01891.hp2 HG02257.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0010 a0001c0002t0011g0370 a0001c0002t0011g0371 a0001c0002t0011g0010 a0001c0002t0011g0370 a0001c0002t0011g0371	4	382	0.0105	c.-11 others(4): Show c.-116C>T	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	1/3	chr18	TogoVar
PARK7_chr1_7956711_7990505	7961733	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0117 a0001c0001t0005g0118	2	370	0.0054	c.-84 others(3): Show c.-84G>T	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding	1/7	chr1	TogoVar
PARK7_chr1_7956711_7990505	7961736	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	370	0.0027	c.-81 others(3): Show c.-81G>T	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding	1/7	chr1	TogoVar
PARP11_chr12_3803861_3878399	3873320	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01346.hp1 HG02280.hp1 HG02717.hp2 others(3): Show HG01346.hp1 HG02280.hp1 HG02717.hp2 HG03130.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0036 a0001c0001t0019 a0001c0001t0036	a0001c0001t0019g0053 a0001c0001t0019g0297 a0001c0001t0019g0299 others(2): Show a0001c0001t0019g0053 a0001c0001t0019g0297 a0001c0001t0019g0299 a0001c0001t0036g0298 a0001c0001t0036g0300	6	416	0.0144	c.-91 others(3): Show c.-91C>T	PARP11	ENSG00000111224.14	transcript	ENST00000228820.9	protein_coding	1/8	chr12	TogoVar
PARP16_chr15_65253099_65291883	65286452	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0254 a0001c0001t0019g0254	1	316	0.0032	c.-26 others(3): Show c.-26A>G	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/6	chr15	TogoVar
PARP8_chr5_50661637_50851519	50667036	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp1 HG02572.hp2 NA19030.hp1 HG02257.hp1 HG02572.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0031 a0001c0007t0029 a0001c0007t0030 a0001c0001t0031 a0001c0007t0029 a0001c0007t0030	a0001c0001t0031g0004 a0001c0007t0029g0006 a0001c0007t0030g0005 a0001c0001t0031g0004 a0001c0007t0029g0006 a0001c0007t0030g0005	3	328	0.0092	c.-60 others(3): Show c.-60G>C	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	1/26	chr5	TogoVar
PARVG_chr22_44175925_44213469	44180928	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0055 a0001c0001t0021g0055	1	422	0.0024	c.-44 others(4): Show c.-446T>C	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	1/14	chr22	TogoVar
PARVG_chr22_44175925_44213469	44181082	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0059 a0001c0001t0037g0059	1	422	0.0024	c.-29 others(4): Show c.-292G>T	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	1/14	chr22	TogoVar
PARVG_chr22_44175925_44213469	44181096	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0059 a0001c0001t0037g0059	1	422	0.0024	c.-27 others(4): Show c.-278C>A	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	1/14	chr22	TogoVar
PATL1_chr11_59631716_59674037	59668989	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0210 a0001c0010t0014g0210	1	276	0.0036	c.-94 others(3): Show c.-94C>T	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	1/19	chr11	TogoVar
PATZ1_chr22_31320804_31351346	31345773	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0018 a0003c0005t0018	a0003c0005t0018g0165 a0003c0005t0018g0165	1	386	0.0026	c.-17 others(4): Show c.-171C>T	PATZ1	ENSG00000100105.18	transcript	ENST00000266269.10	protein_coding	1/5	chr22	TogoVar
PATZ1_chr22_31320804_31351346	31346053	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01070.hp2 HG01071.hp2 HG01257.hp2 others(4): Show HG01070.hp2 HG01071.hp2 HG01257.hp2 HG01258.hp1 HG02683.hp1 HG02738.hp2 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0004 a0001c0001t0004 a0003c0005t0004	a0001c0001t0004g0018 a0001c0001t0004g0049 a0003c0005t0004g0141 a0001c0001t0004g0018 a0001c0001t0004g0049 a0003c0005t0004g0141	7	386	0.0181	c.-45 others(4): Show c.-451G>T	PATZ1	ENSG00000100105.18	transcript	ENST00000266269.10	protein_coding	1/5	chr22	TogoVar
PAX2_chr10_100740582_100834944	100745705	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG02976.hp2 HG03579.hp1 others(1): Show HG01884.hp1 HG02976.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0008 a0001c0002t0014g0009 a0001c0002t0014g0010 others(1): Show a0001c0002t0014g0008 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0014g0011	4	232	0.0172	c.-55 others(4): Show c.-556C>T	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	1/10	chr10	TogoVar
PAX2_chr10_100740582_100834944	100745706	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG02976.hp2 HG03579.hp1 others(1): Show HG01884.hp1 HG02976.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0008 a0001c0002t0014g0009 a0001c0002t0014g0010 others(1): Show a0001c0002t0014g0008 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0014g0011	4	232	0.0172	c.-55 others(4): Show c.-555G>T	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	1/10	chr10	TogoVar
PAX2_chr10_100740582_100834944	100746015	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp2 HG02895.hp2 HG02897.hp2 HG02258.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0101 a0001c0002t0019g0102 a0001c0002t0019g0103 a0001c0002t0019g0101 a0001c0002t0019g0102 a0001c0002t0019g0103	3	232	0.0129	c.-24 others(4): Show c.-246C>T	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	1/10	chr10	TogoVar
PAX4_chr7_127605292_127623142	127618110	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0124 a0002c0002t0032g0124	1	428	0.0023	c.-37 others(4): Show c.-374C>G	PAX4	ENSG00000106331.19	transcript	ENST00000639438.3	protein_coding	1/12	chr7	TogoVar
PAX5_chr9_36828269_37039268	37034077	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0005 a0001c0001t0043g0005	1	274	0.0037	c.-46 others(3): Show c.-46G>A	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	1/10	chr9	TogoVar
PAX5_chr9_36828269_37039268	37034217	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0273 a0001c0001t0121g0273	1	274	0.0037	c.-18 others(4): Show c.-186C>T	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	1/10	chr9	TogoVar
PAX7_chr1_18625846_18753866	18630889	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0177 a0001c0002t0062g0177	1	302	0.0033	c.-71 others(4): Show c.-715C>T	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	1/9	chr1	TogoVar
PAX7_chr1_18625846_18753866	18631219	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG02040.hp1 HG02280.hp1 others(5): Show HG00280.hp1 HG02040.hp1 HG02280.hp1 HG02572.hp1 HG03041.hp2 NA19007.hp1 NA19070.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0023 a0001c0002t0058 others(3): Show a0001c0001t0022 a0001c0002t0023 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061	a0001c0001t0022g0124 a0001c0001t0022g0126 a0001c0002t0023g0121 others(5): Show a0001c0001t0022g0124 a0001c0001t0022g0126 a0001c0002t0023g0121 a0001c0002t0023g0127 a0001c0002t0058g0056 a0001c0002t0059g0123 a0001c0002t0060g0122 a0001c0002t0061g0125	8	302	0.0265	c.-38 others(4): Show c.-385C>T	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	1/9	chr1	TogoVar
PAX7_chr1_18625846_18753866	18631584	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0070 a0001c0001t0057g0070	1	302	0.0033	c.-20 others(3): Show c.-20C>T	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	1/9	chr1	TogoVar
PAX8_chr2_113210997_113283921	113278421	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0253 a0001c0001t0038g0253	1	300	0.0033	c.-27 others(3): Show c.-27C>T	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/12	chr2	TogoVar
PAX9_chr14_36656860_36684362	36661986	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0108 a0002c0002t0031g0108	1	446	0.0022	c.-10 others(4): Show c.-104C>T	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	1/4	chr14	TogoVar
PBOV1_chr6_138210986_138223491	138218419	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00408.hp1 HG00558.hp2 others(87): Show HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00673.hp2 HG01099.hp1 HG01109.hp2 HG01255.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG03017.hp1 HG03139.hp1 HG03139.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18976.hp1 NA18977.hp1 NA18978.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0002 a0000c0004	a0000c0002t0002 a0000c0002t0005 a0000c0002t0009 others(3): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0009 a0000c0002t0010 a0000c0002t0020 a0000c0004t0002	a0000c0002t0002g0000 a0000c0002t0005g0000 a0000c0002t0009g0000 others(3): Show a0000c0002t0002g0000 a0000c0002t0005g0000 a0000c0002t0009g0000 a0000c0002t0010g0000 a0000c0002t0020g0000 a0000c0004t0002g0000	90	384	0.2344	c.-24 others(3): Show c.-24A>G	PBOV1	ENSG00000254440.3	transcript	ENST00000527246.3	protein_coding	1/1	chr6	TogoVar
PBX3_chr9_125742373_125972377	125747378	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00642.hp1 HG00738.hp2 HG01074.hp1 others(1): Show HG00642.hp1 HG00738.hp2 HG01074.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 others(1): Show a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0170	4	294	0.0136	c.-76 others(3): Show c.-76C>G	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	1/9	chr9	TogoVar
PCBP1_chr2_70082477_70094203	70087636	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01243.hp1 HG02280.hp2 HG02622.hp1 others(3): Show HG01243.hp1 HG02280.hp2 HG02622.hp1 HG03486.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	404	0.0149	c.-10 others(4): Show c.-108C>T	PCBP1	ENSG00000169564.7	transcript	ENST00000303577.7	protein_coding	1/1	chr2	TogoVar
PCBP4_chr3_51952458_51972454	51962050	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	312	0.0032	c.-17 others(4): Show c.-174G>C	PCBP4	ENSG00000090097.22	transcript	ENST00000461554.6	protein_coding	2/14	chr3	TogoVar
PCDH15_chr10_53797771_54806231	54801140	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02258.hp1	a0036 a0036	a0036c0019 a0036c0019	a0036c0019t0015 a0036c0019t0015	a0036c0019t0015g0001 a0036c0019t0015g0001	1	102	0.0098	c.-24 others(4): Show c.-244T>A	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/38	chr10	TogoVar
PCDH15_chr10_53816099_54806231	54801140	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02258.hp1	a0032 a0032	a0032c0023 a0032c0023	a0032c0023t0006 a0032c0023t0006	a0032c0023t0006g0001 a0032c0023t0006g0001	1	94	0.0106	c.-24 others(4): Show c.-244T>A	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/33	chr10	TogoVar

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