Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP2R5A_chr1_212280410_212366853	212297116	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0326 a0001c0001t0010g0327 a0001c0001t0010g0326 a0001c0001t0010g0327	2	384	0.0052	-23	c.181 others(42): Show c.181+10826_181+10848delTTTTTTTTTTTTTTTTTTTTTTG	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12			chr1	TogoVar
PPP2R5D_chr6_42979570_43017342	42998035	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	306	0.0033	-23	c.105 others(40): Show c.105+8349_105+8371delATATATATATATATATATATATT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998037	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp1 HG03540.hp1 others(2): Show HG00673.hp2 HG01099.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0001g0242 a0001c0001t0001g0276 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0242 a0001c0001t0001g0276 a0001c0001t0003g0087 a0001c0001t0003g0088	5	306	0.0163	-23	c.105 others(40): Show c.105+8351_105+8373delATATATATATATATATATATTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998039	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03654.hp1 HG02572.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0198 a0001c0001t0001g0225	2	306	0.0065	-23	c.105 others(40): Show c.105+8353_105+8375delATATATATATATATATATTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998041	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp2 HG02965.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0001g0222 a0001c0001t0001g0240	2	306	0.0065	-23	c.105 others(40): Show c.105+8355_105+8377delATATATATATATATATTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998049	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	306	0.0033	-23	c.105 others(40): Show c.105+8363_105+8385delATATATATTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5E_chr14_63366364_63548377	63395491	GGGGAAGA others(16): Show GGGGAAGAGAGGAGGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG01884.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0233 a0001c0001t0023g0235 a0001c0001t0023g0233 a0001c0001t0023g0235	2	252	0.0079	-23	c.681 others(38): Show c.681-229_681-207delTCCTCTCCTCCTCCTCTCTTCCC	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	6/13			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101327669	ATATGTAT others(16): Show ATATGTATTATAAATGTTGGGCAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG03139.hp2 others(1): Show HG02055.hp2 HG02257.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0053 a0001c0001t0011 a0001c0001t0021 a0001c0001t0053	a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0021g0101 others(1): Show a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0021g0101 a0001c0001t0053g0098	4	192	0.0208	-23	c.58+ others(40): Show c.58+19047_58+19069delATGCCCAACATTTATAATACATA	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP5C_chr19_46342087_46395975	46363307	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02109.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0279 a0001c0001t0001g0280	2	394	0.0051	-23	c.363 others(40): Show c.363+9336_363+9358delAAAAAAAAAAAAAAAAAAAAAAA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389358	TCAAAACA others(16): Show TCAAAACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	394	0.0025	-23	c.135 others(40): Show c.1355+630_1355+652delAAACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPWD1_chr5_65558296_65592549	65578742	ATATACAC others(16): Show ATATACACACATATATGTGTATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00733.hp2 others(68): Show HG00438.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA18946.hp2 NA18948.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19006.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp1 NA19074.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(55): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0003t0001g0029	71	384	0.1849	-23	c.116 others(40): Show c.1161-681_1161-659delTATACACACATATATGTGTATAT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	6/10			chr5	TogoVar
PRAMEF12_chr1_12768738_12782906	12777869	AAAGAAAC others(16): Show AAAGAAACAGTCAGAAATAAAGGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	402	0.0025	-23	c.27 others(32): Show c.274_*296delAAACAGTCAGAAATAAAGGGAAG	PRAMEF12	ENSG00000116726.5	transcript	ENST00000357726.5	protein_coding	3/3	274	INFO_REALIGN_3_PRIME	chr1	TogoVar
PRAME_chr22_22542701_22564265	22557891	AGGAGATG others(16): Show AGGAGATGGGGGTGGGGAAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG02572.hp2 others(4): Show HG01167.hp1 HG01261.hp1 HG02572.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0012 a0001c0001t0001g0038	7	399	0.0175	-23	c.-11 others(40): Show c.-113-334_-113-312delCCTCCTTCCCCACCCCCATCTCC	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding	1/5			chr22	TogoVar
PRDM10_chr11_129894711_130007835	129927176	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19030.hp2 HG02486.hp2 NA19030.hp2	a0003 a0003	a0003c0002 a0003c0006 a0003c0002 a0003c0006	a0003c0002t0004 a0003c0006t0002 a0003c0002t0004 a0003c0006t0002	a0003c0002t0004g0309 a0003c0006t0002g0290 a0003c0002t0004g0309 a0003c0006t0002g0290	2	326	0.0061	-23	c.153 others(42): Show c.1531-1970_1531-1948delTTTTTTTTTTTTTTTTTTTTTTT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	11/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129996796	CCATTTAG others(16): Show CCATTTAGAACTGTGTGCTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01074.hp1 others(54): Show HG00438.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18974.hp2 NA18975.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012	a0001c0003 a0001c0004 a0001c0009 others(29): Show a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0001c0053 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0002c0001 a0002c0008 a0002c0026 a0002c0027 a0002c0028 a0003c0002 a0003c0010 a0003c0023 a0003c0024 a0003c0025 a0004c0005 a0004c0018 a0004c0021 a0004c0035 a0005c0016 a0005c0046 a0005c0047 a0006c0052 a0007c0048 a0007c0049 a0012c0045	a0001c0003t0021 a0001c0004t0002 a0001c0004t0003 others(39): Show a0001c0003t0021 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0017 a0001c0009t0001 a0001c0012t0004 a0001c0053t0022 a0001c0058t0001 a0001c0059t0006 a0001c0060t0011 a0001c0061t0001 a0001c0062t0027 a0001c0063t0002 a0002c0001t0002 a0002c0001t0019 a0002c0008t0006 a0002c0008t0009 a0002c0008t0010 a0002c0026t0001 a0002c0027t0023 a0002c0028t0013 a0003c0002t0001 a0003c0010t0020 a0003c0023t0006 a0003c0024t0020 a0003c0024t0031 a0003c0025t0002 a0004c0005t0002 a0004c0005t0005 a0004c0018t0013 a0004c0021t0004 a0004c0035t0001 a0005c0016t0006 a0005c0016t0012 a0005c0046t0012 a0005c0047t0004 a0006c0052t0006 a0007c0048t0004 a0007c0049t0009 a0012c0045t0029	a0001c0003t0021g0003 a0001c0004t0002g0284 a0001c0004t0003g0015 others(54): Show a0001c0003t0021g0003 a0001c0004t0002g0284 a0001c0004t0003g0015 a0001c0004t0003g0023 a0001c0004t0005g0019 a0001c0004t0005g0281 a0001c0004t0005g0283 a0001c0004t0007g0012 a0001c0004t0017g0010 a0001c0004t0017g0021 a0001c0004t0017g0025 a0001c0009t0001g0011 a0001c0009t0001g0018 a0001c0009t0001g0020 a0001c0009t0001g0024 a0001c0012t0004g0034 a0001c0012t0004g0040 a0001c0053t0022g0044 a0001c0058t0001g0014 a0001c0059t0006g0282 a0001c0060t0011g0280 a0001c0061t0001g0013 a0001c0062t0027g0029 a0001c0063t0002g0016 a0002c0001t0002g0039 a0002c0001t0019g0038 a0002c0008t0006g0124 a0002c0008t0009g0030 a0002c0008t0009g0031 a0002c0008t0010g0037 a0002c0026t0001g0027 a0002c0027t0023g0045 a0002c0028t0013g0032 a0002c0028t0013g0033 a0003c0002t0001g0022 a0003c0010t0020g0046 a0003c0023t0006g0004 a0003c0024t0020g0035 a0003c0024t0031g0036 a0003c0025t0002g0028 a0004c0005t0002g0009 a0004c0005t0005g0026 a0004c0005t0005g0041 a0004c0018t0013g0322 a0004c0021t0004g0323 a0004c0021t0004g0324 a0004c0035t0001g0017 a0005c0016t0006g0154 a0005c0016t0012g0152 a0005c0016t0012g0153 a0005c0016t0012g0155 a0005c0046t0012g0151 a0005c0047t0004g0156 a0006c0052t0006g0047 a0007c0048t0004g0049 a0007c0049t0009g0042 a0012c0045t0029g0043	57	326	0.1749	-23	c.-11 others(42): Show c.-119+5903_-119+5925delAACAAAGCACACAGTTCTAAATG	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	1/20			chr11	TogoVar
PRDM13_chr6_99601833_99620562	99618899	CCCCTGGG others(16): Show CCCCTGGGCTCACAGCCTCGCGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	442	0.0023	-23	c.41 others(34): Show c.4141_*4163delCCCTGGGCTCACAGCCTCGCGCT	PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding		3338		chr6	TogoVar
PRDM13_chr6_99601833_99620562	99618919	CGCTCCCT others(16): Show CGCTCCCTGGGCTCACAGCCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01192.hp2 HG02738.hp2 others(2): Show HG00280.hp1 HG01192.hp2 HG02738.hp2 HG03654.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0007 a0002c0002t0006g0007	5	442	0.0113	-23	c.41 others(34): Show c.4161_*4183delGCTCCCTGGGCTCACAGCCTCGG	PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding		3358		chr6	TogoVar
PRDM13_chr6_99601833_99620562	99618952	ACTCACAG others(16): Show ACTCACAGCCTCGCCCTCCCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp2 others(18): Show HG00099.hp2 HG00140.hp2 HG00733.hp2 HG01074.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG02165.hp2 HG02486.hp2 HG03225.hp1 HG03453.hp2 NA19043.hp1 NA19240.hp1 NA20805.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0001 a0010c0016t0001 a0001c0001t0001 a0010c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0033 a0010c0016t0001g0053	21	442	0.0475	-23	c.41 others(34): Show c.4194_*4216delCTCACAGCCTCGCCCTCCCTGGG	PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding		3391		chr6	TogoVar
PRDM13_chr6_99601833_99620562	99618966	CCTCCCTG others(16): Show CCTCCCTGGGCTCACAGCCTCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19084.hp1 NA19011.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	442	0.0045	-23	c.42 others(34): Show c.4208_*4230delCTCCCTGGGCTCACAGCCTCGCG	PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding		3405		chr6	TogoVar
PRDM15_chr21_41793225_41884344	41844741	CAGAGTCC others(16): Show CAGAGTCCCTTCCCCCTCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01167.hp2 others(38): Show HG00099.hp1 HG00741.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG04228.hp1 HG06807.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18964.hp1 NA18971.hp1 NA19000.hp2 NA19007.hp2 NA19080.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0016 a0001c0030 a0001c0037 a0001c0048 a0005c0042	a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 others(13): Show a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 a0001c0003t0034 a0001c0005t0009 a0001c0005t0047 a0001c0006t0005 a0001c0006t0010 a0001c0006t0013 a0001c0009t0008 a0001c0013t0001 a0001c0016t0008 a0001c0030t0008 a0001c0037t0003 a0001c0048t0001 a0005c0042t0008	a0001c0001t0004g0246 a0001c0002t0002g0301 a0001c0002t0002g0302 others(37): Show a0001c0001t0004g0246 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0332 a0001c0002t0002g0337 a0001c0002t0002g0341 a0001c0002t0002g0350 a0001c0003t0001g0028 a0001c0003t0001g0044 a0001c0003t0001g0088 a0001c0003t0034g0277 a0001c0005t0009g0117 a0001c0005t0009g0318 a0001c0005t0047g0015 a0001c0006t0005g0002 a0001c0006t0005g0039 a0001c0006t0005g0041 a0001c0006t0010g0061 a0001c0006t0010g0392 a0001c0006t0013g0038 a0001c0009t0008g0295 a0001c0009t0008g0363 a0001c0009t0008g0364 a0001c0009t0008g0365 a0001c0009t0008g0400 a0001c0013t0001g0339 a0001c0016t0008g0040 a0001c0016t0008g0052 a0001c0016t0008g0058 a0001c0016t0008g0062 a0001c0030t0008g0167 a0001c0037t0003g0007 a0001c0048t0001g0380 a0005c0042t0008g0165	41	406	0.1010	-23	c.640 others(40): Show c.640+2326_640+2348delCCCTGTGAGGGGGAAGGGACTCT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41845172	CACAGCCC others(16): Show CACAGCCCCTCCCCCCTCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02818.hp2 others(6): Show HG01243.hp1 HG01891.hp2 HG02818.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0018 a0001c0005 a0001c0010 a0001c0018	a0001c0005t0007 a0001c0010t0012 a0001c0010t0025 others(2): Show a0001c0005t0007 a0001c0010t0012 a0001c0010t0025 a0001c0010t0026 a0001c0018t0025	a0001c0005t0007g0010 a0001c0010t0012g0008 a0001c0010t0012g0009 others(6): Show a0001c0005t0007g0010 a0001c0010t0012g0008 a0001c0010t0012g0009 a0001c0010t0012g0012 a0001c0010t0012g0013 a0001c0010t0025g0006 a0001c0010t0026g0005 a0001c0010t0026g0011 a0001c0018t0025g0059	9	406	0.0222	-23	c.640 others(40): Show c.640+1895_640+1917delCCCTGTGAGGGGGGAGGGGCTGT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3128668	CTCCCACC others(16): Show CTCCCACCATGCTACTGGAGACCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(82): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18950.hp2 NA18983.hp1 NA18990.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0013 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0002c0003 a0002c0007 a0002c0015 a0002c0030 a0003c0005 a0004c0010 a0005c0018 a0009c0028 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0045 a0001c0001t0046 a0001c0001t0053 a0001c0001t0056 a0001c0001t0070 a0001c0001t0083 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0001c0002t0027 a0001c0002t0064 a0001c0002t0071 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0025 a0001c0004t0029 a0001c0004t0055 a0001c0004t0073 a0001c0004t0081 a0001c0006t0011 a0001c0006t0024 a0001c0006t0039 a0001c0008t0085 a0001c0009t0067 a0001c0013t0041 a0001c0016t0020 a0001c0020t0005 a0001c0021t0049 a0001c0025t0044 a0001c0026t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0003t0059 a0002c0007t0002 a0002c0007t0024 a0002c0015t0014 a0002c0030t0047 a0003c0005t0001 a0003c0005t0009 a0004c0010t0060 a0005c0018t0012 a0009c0028t0015 a0010c0019t0002	a0001c0001t0001g0006 a0001c0001t0001g0119 a0001c0001t0001g0158 others(82): Show a0001c0001t0001g0006 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0176 a0001c0001t0004g0046 a0001c0001t0008g0097 a0001c0001t0011g0022 a0001c0001t0011g0047 a0001c0001t0012g0041 a0001c0001t0013g0002 a0001c0001t0019g0101 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0022g0040 a0001c0001t0023g0072 a0001c0001t0030g0162 a0001c0001t0045g0024 a0001c0001t0046g0042 a0001c0001t0053g0154 a0001c0001t0056g0204 a0001c0001t0070g0100 a0001c0001t0083g0027 a0001c0002t0001g0014 a0001c0002t0001g0116 a0001c0002t0001g0187 a0001c0002t0001g0208 a0001c0002t0002g0180 a0001c0002t0003g0052 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0005g0081 a0001c0002t0005g0141 a0001c0002t0005g0152 a0001c0002t0006g0149 a0001c0002t0008g0083 a0001c0002t0008g0098 a0001c0002t0017g0202 a0001c0002t0027g0148 a0001c0002t0064g0182 a0001c0002t0071g0099 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0032 a0001c0004t0010g0174 a0001c0004t0025g0205 a0001c0004t0029g0044 a0001c0004t0055g0004 a0001c0004t0073g0143 a0001c0004t0081g0031 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0085g0003 a0001c0009t0067g0145 a0001c0013t0041g0025 a0001c0016t0020g0108 a0001c0020t0005g0196 a0001c0021t0049g0023 a0001c0025t0044g0109 a0001c0026t0001g0160 a0002c0003t0001g0142 a0002c0003t0004g0068 a0002c0003t0006g0050 a0002c0003t0006g0066 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0003t0059g0037 a0002c0007t0002g0045 a0002c0007t0024g0070 a0002c0015t0014g0073 a0002c0030t0047g0206 a0003c0005t0001g0171 a0003c0005t0009g0010 a0004c0010t0060g0087 a0005c0018t0012g0030 a0009c0028t0015g0209 a0010c0019t0002g0028	85	210	0.4048	-23	c.38- others(40): Show c.38-57426_38-57404delATGCTACTGGAGACCATCCCACC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3240034	GGAGAAGA others(16): Show GGAGAAGAGGAGAGGAGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03130.hp2 HG03471.hp2 others(3): Show HG02004.hp2 HG03130.hp2 HG03471.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 others(3): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0004t0010 a0001c0004t0081 a0001c0006t0024	a0001c0001t0012g0129 a0001c0001t0014g0132 a0001c0001t0022g0061 others(3): Show a0001c0001t0012g0129 a0001c0001t0014g0132 a0001c0001t0022g0061 a0001c0004t0010g0034 a0001c0004t0081g0031 a0001c0006t0024g0026	6	210	0.0286	-23	c.388 others(40): Show c.388-4049_388-4027delAAGAGGAGAGGAGAGGAGAAGAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM8_chr4_80192503_80209329	80206653	TTGGTCCC others(16): Show TTGGTCCCACGACGTCCAGGGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01975.hp2 HG01978.hp1 others(2): Show HG01106.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0129 a0001c0002t0002g0141 a0001c0002t0002g0032 a0001c0002t0002g0129 a0001c0002t0002g0141	5	420	0.0119	-23	c.31 others(34): Show c.3122_*3144delTGGTCCCACGACGTCCAGGGAGG	PRDM8	ENSG00000152784.16	transcript	ENST00000415738.3	protein_coding		2325		chr4	TogoVar
PREX1_chr20_48619252_48832999	48746988	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0051 a0002c0002t0003g0051	1	268	0.0037	-23	c.291 others(38): Show c.291+798_291+820delGTGTGTGTGTGTGTGTGTGTGTG	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	2/39			chr20	TogoVar
PRIMA1_chr14_93713298_93793485	93766804	GGGTTTCA others(16): Show GGGTTTCATGCCCTCAGTGTGCAT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0311 a0001c0003t0002g0311	1	397	0.0025	-23	c.229 others(42): Show c.229+12349_229+12371delATGCACACTGAGGGCATGAAACC	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	3/4			chr14	TogoVar
PRKAA1_chr5_40754389_40803374	40800695	GCGCCTCT others(16): Show GCGCCTCTGCCCGGCCGCCCCTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG03579.hp1 HG02717.hp2 HG02922.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059	3	402	0.0075	-23	c.-25 others(34): Show c.-2529_-2507delGTAGGGGCGGCCGGGCAGAGGCG	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2322		chr5	TogoVar
PRKCB_chr16_23830983_24225611	23866972	TCCTTCCC others(16): Show TCCTTCCCTTCCTTCCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp2 HG01168.hp2 others(17): Show HG01070.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG02132.hp1 HG02132.hp2 HG02300.hp1 HG02602.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA18983.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(16): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0040 a0001c0001t0046 a0001c0001t0056 a0001c0001t0066 a0001c0002t0018 a0001c0002t0034 a0001c0002t0059 a0001c0003t0007 a0001c0003t0026 a0001c0004t0013 a0001c0005t0004 a0001c0005t0006 a0001c0005t0020 a0001c0006t0002 a0001c0007t0054 a0001c0009t0073	a0001c0001t0005g0078 a0001c0001t0007g0005 a0001c0001t0008g0054 others(17): Show a0001c0001t0005g0078 a0001c0001t0007g0005 a0001c0001t0008g0054 a0001c0001t0040g0018 a0001c0001t0046g0029 a0001c0001t0056g0109 a0001c0001t0066g0007 a0001c0002t0018g0088 a0001c0002t0034g0085 a0001c0002t0059g0096 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0026g0113 a0001c0004t0013g0044 a0001c0005t0004g0036 a0001c0005t0006g0028 a0001c0005t0020g0037 a0001c0006t0002g0035 a0001c0007t0054g0095 a0001c0009t0073g0031	20	148	0.1351	-23	c.205 others(42): Show c.205+29573_205+29595delCTTCCTTCCCTTCCTTCCCTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23879482	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03017.hp1 HG01123.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0046 a0001c0009t0038 a0001c0001t0046 a0001c0009t0038	a0001c0001t0046g0029 a0001c0009t0038g0056 a0001c0001t0046g0029 a0001c0009t0038g0056	2	148	0.0135	-23	c.205 others(42): Show c.205+42090_205+42112delTTTTTTTTTTTTTTTTTTTTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45884976	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	168	0.0060	-23	c.412 others(42): Show c.412+41914_412+41936delATATATATATATATATATATATA	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14			chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878629	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	362	0.0028	-23	c.-38 others(34): Show c.-3865_-3843delAAAAAAAAAAAAAAAAAAAAAAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3567		chr19	TogoVar
PRKG1_chr10_51069487_52303350	51076802	CCATTATA others(16): Show CCATTATAATAACATTTTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	64	0.0156	-23	c.311 others(40): Show c.311+1927_311+1949delTTATAATAACATTTTATCTATCA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51709917	AGCAAGGG others(16): Show AGCAAGGGTTTGACAATGCTTTAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp1 HG01099.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0005g0018 a0001c0001t0001g0051 a0001c0001t0005g0018	2	64	0.0313	-23	c.593 others(42): Show c.593-94666_593-94644delCAAGGGTTTGACAATGCTTTAGG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161451920	TCTTTTTT others(16): Show TCTTTTTTCTTTTCTTTTCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG02258.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0014 a0001c0008t0010 a0001c0001t0014 a0001c0008t0010	a0001c0001t0014g0012 a0001c0008t0010g0014 a0001c0001t0014g0012 a0001c0008t0010g0014	2	32	0.0625	-23	c.108 others(44): Show c.1084-65066_1084-65044delTAAAAGAAAAGAAAAGAAAAAAG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161821719	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02602.hp2 HG02897.hp2 others(3): Show HG01884.hp1 HG02602.hp2 HG02897.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0005c0011 a0006c0010	a0001c0001t0006 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0006 a0001c0003t0001 a0001c0004t0001 a0002c0002t0004 a0005c0011t0012 a0006c0010t0005	a0001c0001t0006g0003 a0001c0003t0001g0025 a0001c0004t0001g0001 others(3): Show a0001c0001t0006g0003 a0001c0003t0001g0025 a0001c0004t0001g0001 a0002c0002t0004g0019 a0005c0011t0012g0009 a0006c0010t0005g0013	6	32	0.1875	-23	c.735 others(42): Show c.735-35834_735-35812delAAAAAAAAAAAAAAAAAAAAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162075600	GACTATCT others(16): Show GACTATCTTGACCACTGGTCAACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02897.hp1 HG03041.hp1 HG02258.hp2 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0011 a0001c0001t0003g0022 a0001c0001t0008g0010 a0001c0001t0002g0011 a0001c0001t0003g0022 a0001c0001t0008g0010	3	32	0.0938	-23	c.535 others(42): Show c.535-21449_535-21427delTGTTGACCAGTGGTCAAGATAGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	4/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162553826	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0031 a0004c0009t0011g0031	1	32	0.0313	-23	c.8-1 others(40): Show c.8-110376_8-110354delCTTTTTTTTTTTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3613150	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp1 others(74): Show HG00099.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG04184.hp1 HG04184.hp2 NA18942.hp1 NA18943.hp1 NA18986.hp1 NA18994.hp1 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19064.hp2 NA19087.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0012 a0003c0010 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(57): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0070 a0001c0001t0082 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0113 a0001c0001t0122 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0051 a0001c0002t0083 a0001c0002t0084 a0001c0002t0086 a0001c0002t0102 a0001c0002t0114 a0001c0002t0138 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0032 a0002c0003t0104 a0002c0003t0112 a0002c0003t0115 a0002c0004t0011 a0002c0004t0032 a0002c0004t0110 a0002c0012t0011 a0003c0010t0008 a0004c0006t0034	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0060 others(74): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0003g0030 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0007g0150 a0001c0001t0007g0157 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0010g0182 a0001c0001t0015g0131 a0001c0001t0015g0162 a0001c0001t0016g0137 a0001c0001t0028g0114 a0001c0001t0036g0073 a0001c0001t0037g0002 a0001c0001t0040g0048 a0001c0001t0042g0032 a0001c0001t0043g0052 a0001c0001t0044g0051 a0001c0001t0048g0078 a0001c0001t0049g0083 a0001c0001t0050g0049 a0001c0001t0070g0046 a0001c0001t0082g0112 a0001c0001t0108g0174 a0001c0001t0109g0177 a0001c0001t0111g0179 a0001c0001t0113g0183 a0001c0001t0122g0175 a0001c0001t0134g0222 a0001c0001t0135g0224 a0001c0001t0136g0226 a0001c0001t0137g0223 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0003g0039 a0001c0002t0007g0128 a0001c0002t0007g0134 a0001c0002t0007g0156 a0001c0002t0010g0176 a0001c0002t0015g0120 a0001c0002t0016g0118 a0001c0002t0016g0119 a0001c0002t0038g0053 a0001c0002t0039g0019 a0001c0002t0041g0088 a0001c0002t0045g0047 a0001c0002t0046g0054 a0001c0002t0047g0061 a0001c0002t0051g0015 a0001c0002t0083g0161 a0001c0002t0084g0117 a0001c0002t0086g0139 a0001c0002t0102g0168 a0001c0002t0114g0172 a0001c0002t0138g0221 a0002c0003t0008g0205 a0002c0003t0010g0188 a0002c0003t0010g0189 a0002c0003t0011g0198 a0002c0003t0011g0216 a0002c0003t0032g0184 a0002c0003t0104g0170 a0002c0003t0112g0208 a0002c0003t0115g0186 a0002c0004t0011g0209 a0002c0004t0032g0197 a0002c0004t0110g0212 a0002c0012t0011g0187 a0003c0010t0008g0178 a0004c0006t0034g0001	77	227	0.3392	-23	c.952 others(38): Show c.952-848_952-826delTTTTTTTTTTTTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8			chrX	TogoVar
PRLH_chr2_237561574_237572175	237565928	TACACACG others(16): Show TACACACGCATCTACCCAATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03710.hp2 HG02129.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0002 a0001c0001t0000g0002	2	404	0.0050	-23	c.-64 others(32): Show c.-645_-623delACACACGCATCTACCCAATACAC	PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding		645		chr2	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp2 HG01168.hp2 others(10): Show HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG02080.hp1 HG02135.hp1 HG02293.hp2 HG02559.hp1 HG03927.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	13	456	0.0285	-23	c.16 others(34): Show c.1689_*1711delTTTTTTTTTTTTTTTTTTTTTTT	PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding		682		chr1	TogoVar
PROK2_chr3_71766655_71790148	71768440	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA19030.hp2 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0050 a0001c0001t0011g0050	2	438	0.0046	-23	c.42 others(34): Show c.4261_*4283delTTTTTTTTTTTTTTTTTTTTTTT	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding		3214		chr3	TogoVar
PROSER2_chr10_11818356_11877277	11840936	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0166 a0004c0003t0004g0166	1	348	0.0029	-23	c.-81 others(42): Show c.-81-11059_-81-11037delAAAAAAAAAAAAAAAAAAATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840940	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01123.hp1 others(6): Show HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG03831.hp2 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0018 a0001c0021 a0004c0003 a0001c0018 a0001c0021 a0004c0003	a0001c0018t0021 a0001c0021t0001 a0004c0003t0004 a0001c0018t0021 a0001c0021t0001 a0004c0003t0004	a0001c0018t0021g0168 a0001c0021t0001g0033 a0004c0003t0004g0001 others(5): Show a0001c0018t0021g0168 a0001c0021t0001g0033 a0004c0003t0004g0001 a0004c0003t0004g0164 a0004c0003t0004g0167 a0004c0003t0004g0169 a0004c0003t0004g0242 a0004c0003t0004g0243	9	348	0.0259	-23	c.-81 others(42): Show c.-81-11055_-81-11033delAAAAAAAAAAAAAAATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840942	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03704.hp2 HG01981.hp1 HG03704.hp2	a0004 a0010 a0004 a0010	a0004c0003 a0010c0016 a0004c0003 a0010c0016	a0004c0003t0004 a0010c0016t0004 a0004c0003t0004 a0010c0016t0004	a0004c0003t0004g0251 a0010c0016t0004g0052 a0004c0003t0004g0251 a0010c0016t0004g0052	2	348	0.0058	-23	c.-81 others(42): Show c.-81-11053_-81-11031delAAAAAAAAAAAAATATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF40A_chr2_152646732_152722461	152673455	GAGATTGG others(16): Show GAGATTGGTATTATCAATACCATC	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0271	1	372	0.0027	-23	c.126 others(40): Show c.1266+120_1266+142delGATGGTATTGATAATACCAATCT	PRPF40A	ENSG00000196504.21	transcript	ENST00000545856.8	protein_coding	11/25			chr2	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(34): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG02015.hp1 HG02083.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG03209.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18965.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19054.hp2 NA19063.hp2 NA19077.hp2 NA19081.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011	a0001c0001t0001g0016 a0001c0001t0001g0130 a0001c0001t0001g0132 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0002t0003g0002 a0001c0002t0003g0057 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0008g0241 a0001c0002t0011g0057	37	426	0.0869	-23	c.750 others(38): Show c.750-858_750-836delTTTTTTTTTTTTTTTTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRPF6_chr20_63976132_64038100	64015078	TGTTTTAT others(16): Show TGTTTTATTATTGAGTTGTAAGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	294	0.0034	-23	c.152 others(42): Show c.1525-1644_1525-1622delGTTTTATTATTGAGTTGTAAGAG	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20			chr20	TogoVar
PRPH2_chr6_42691598_42727597	42705584	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18963.hp2 NA18983.hp1 others(1): Show HG02451.hp1 NA18963.hp2 NA18983.hp1 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0022 a0002c0004t0005 a0001c0001t0022 a0002c0004t0005	a0001c0001t0022g0023 a0002c0004t0005g0018 a0002c0004t0005g0019 others(1): Show a0001c0001t0022g0023 a0002c0004t0005g0018 a0002c0004t0005g0019 a0002c0004t0005g0020	4	392	0.0102	-23	c.582 others(38): Show c.582-996_582-974delATATATATTTTTTTTTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPSAP2_chr17_18853131_18936287	18917569	ATTATTAT others(16): Show ATTATTATTATTATTATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp1 HG02622.hp2 others(5): Show HG00741.hp2 HG02257.hp1 HG02622.hp2 HG02630.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0006 others(5): Show a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011	8	392	0.0204	-23	c.733 others(40): Show c.733+6321_734-6320delATTATTATTATTATTTTTTTTTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR14_chr16_30645960_30661413	30647262	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA19080.hp1 NA19240.hp2 NA18977.hp1 NA19080.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0003c0004t0001g0006 a0001c0001t0001g0001 a0003c0004t0001g0006	3	296	0.0101	-23	c.-39 others(34): Show c.-3915_-3893delAAGAAAGAAAGAAAGAAAGAAAG	PRR14	ENSG00000156858.12	transcript	ENST00000300835.9	protein_coding		3697		chr16	TogoVar

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