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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PCGF3_chr4_700832_775089	731701	CCCCCTCC others(42): Show CCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02895.hp2 others(2): Show HG02559.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0004g0254 others(2): Show a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0002c0002t0001g0250	5	366	0.0137	-49	c.-10 others(64): Show c.-10+743_-10+791delTCCCCTCGTGGGTGGGCGTGGTCCTCAGGG GCGTAGGGCGGGGCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	732110	GGTGGGCG others(42): Show GGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCTCCCCTCGTGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	366	0.0027	-49	c.-10 others(66): Show c.-10+1019_-10+1067delGGCGTAGGGCGGGGCTCCCCTCCCCTCG TGAGTGGGCGTGGTCCTCAGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46437286	TTGTGTGG others(42): Show TTGTGTGGTCTTCGGGGGCTGAGCCCTGCTGCCATGGGATGCTGTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01515.hp1 others(39): Show HG01109.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0004 a0005 a0015 others(6): Show a0004 a0005 a0015 a0022 a0038 a0039 a0040 a0041 a0060	a0004c0004 a0004c0023 a0004c0071 others(11): Show a0004c0004 a0004c0023 a0004c0071 a0005c0008 a0005c0016 a0005c0024 a0005c0069 a0015c0025 a0022c0034 a0038c0070 a0039c0068 a0040c0072 a0041c0074 a0060c0053	a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 others(13): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0023t0003 a0004c0071t0001 a0005c0008t0001 a0005c0016t0001 a0005c0024t0001 a0005c0069t0001 a0015c0025t0001 a0022c0034t0001 a0038c0070t0001 a0039c0068t0001 a0040c0072t0001 a0041c0074t0001 a0060c0053t0001	a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0096 others(39): Show a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0110 a0004c0004t0003g0119 a0004c0004t0006g0101 a0004c0023t0003g0091 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0071t0001g0106 a0005c0008t0001g0083 a0005c0008t0001g0084 a0005c0008t0001g0085 a0005c0008t0001g0086 a0005c0008t0001g0087 a0005c0008t0001g0088 a0005c0016t0001g0112 a0005c0016t0001g0113 a0005c0016t0001g0114 a0005c0016t0001g0116 a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 a0005c0069t0001g0095 a0015c0025t0001g0094 a0015c0025t0001g0117 a0015c0025t0001g0118 a0022c0034t0001g0324 a0022c0034t0001g0325 a0038c0070t0001g0115 a0039c0068t0001g0069 a0040c0072t0001g0107 a0041c0074t0001g0108 a0060c0053t0001g0326	42	332	0.1265	-49	c.909 others(66): Show c.9099+249_9099+297delTGTGACTGTGTGGTCTTCGGGGGCTGAG CCCTGCTGCCATGGGATGCTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK2_chr20_17222040_17489578	17347896	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAGAGAGAAAAAAGAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	274	0.0037	-49	c.283 others(68): Show c.283-10428_283-10380delAGAAAGAAAGAAAGAAAGAAAGGAGA GAGAAAAAAGAGAAAGAAAGAAA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK5_chr9_75885673_76367975	76064131	AGGGCTGA others(42): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02897.hp2 others(5): Show HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1	a0003 a0005 a0009 others(5): Show a0003 a0005 a0009 a0013 a0020 a0024 a0030 a0047	a0003c0098 a0005c0037 a0009c0038 others(5): Show a0003c0098 a0005c0037 a0009c0038 a0013c0029 a0020c0071 a0024c0091 a0030c0065 a0047c0041	a0003c0098t0017 a0005c0037t0014 a0009c0038t0021 others(5): Show a0003c0098t0017 a0005c0037t0014 a0009c0038t0021 a0013c0029t0009 a0020c0071t0053 a0024c0091t0004 a0030c0065t0037 a0047c0041t0024	a0003c0098t0017g0043 a0005c0037t0014g0118 a0009c0038t0021g0132 others(5): Show a0003c0098t0017g0043 a0005c0037t0014g0118 a0009c0038t0021g0132 a0013c0029t0009g0119 a0020c0071t0053g0053 a0024c0091t0004g0164 a0030c0065t0037g0015 a0047c0041t0024g0133	8	166	0.0482	-49	c.633 others(66): Show c.633-3781_633-3733delAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCTP_chr17_55746051_55782374	55765519	CTGACTCC others(42): Show CTGACTCCTCGCCATCACTGTTGTTACTTCCCTGTTCAAATCACCATCAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	288	0.0035	-49	c.142 others(66): Show c.142-1814_142-1766delGACTCCTCGCCATCACTGTTGTTACTTC CCTGTTCAAATCACCATCATT	PCTP	ENSG00000141179.14	transcript	ENST00000268896.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PCYOX1_chr2_70253137_70286185	70272617	CCTCTTGA others(42): Show CCTCTTGAGTAGCTGTGACTACAGGTGCATGCTGCCTCACCTGGGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0124 a0002c0004t0001g0124	1	424	0.0024	-49	c.495 others(66): Show c.495-2341_495-2293delCTCTTGAGTAGCTGTGACTACAGGTGCA TGCTGCCTCACCTGGGTGCTG	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding	3/5			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177682893	CTTTGGAA others(42): Show CTTTGGAAAATACCATCATGACATATAATTTATGGTAGAAATCAGACATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00673.hp2 others(23): Show HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01978.hp2 HG02040.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02738.hp2 HG02818.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18966.hp2 NA19060.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0032 a0002c0004 a0002c0015 a0004c0007 a0005c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 a0001c0001t0033 a0001c0003t0003 a0001c0003t0014 a0001c0003t0029 a0001c0003t0032 a0001c0005t0015 a0001c0006t0018 a0001c0032t0068 a0002c0004t0020 a0002c0015t0001 a0004c0007t0003 a0004c0007t0011 a0005c0012t0009	a0001c0001t0002g0089 a0001c0001t0003g0049 a0001c0001t0003g0138 others(23): Show a0001c0001t0002g0089 a0001c0001t0003g0049 a0001c0001t0003g0138 a0001c0001t0008g0030 a0001c0001t0008g0148 a0001c0001t0011g0037 a0001c0001t0014g0051 a0001c0001t0018g0043 a0001c0001t0024g0081 a0001c0001t0033g0072 a0001c0003t0003g0121 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0014g0151 a0001c0003t0029g0132 a0001c0003t0032g0120 a0001c0005t0015g0012 a0001c0006t0018g0004 a0001c0032t0068g0170 a0002c0004t0020g0136 a0002c0015t0001g0013 a0004c0007t0003g0158 a0004c0007t0003g0159 a0004c0007t0003g0160 a0004c0007t0011g0161 a0005c0012t0009g0053	26	170	0.1529	-49	c.234 others(68): Show c.2346-2039_2346-1991delTATGTCTGATTTCTACCATAAATTAT ATGTCATGATGGTATTTTCCAAA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	15/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177945798	CGGCCAGC others(42): Show CGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0068 a0001c0032t0068	a0001c0032t0068g0170 a0001c0032t0068g0170	1	170	0.0059	-49	c.107 others(70): Show c.1072-40660_1072-40612delAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGCACGGCTGGCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177945812	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(31): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01169.hp2 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02698.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03490.hp1 HG03579.hp2 HG03942.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18966.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0013	a0001c0003 a0001c0005 a0001c0017 others(5): Show a0001c0003 a0001c0005 a0001c0017 a0002c0004 a0003c0008 a0004c0007 a0011c0019 a0013c0031	a0001c0003t0002 a0001c0003t0003 a0001c0003t0029 others(20): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0005t0053 a0001c0005t0065 a0001c0017t0002 a0002c0004t0001 a0002c0004t0004 a0002c0004t0020 a0002c0004t0039 a0002c0004t0040 a0002c0004t0041 a0002c0004t0042 a0002c0004t0044 a0003c0008t0010 a0003c0008t0017 a0003c0008t0050 a0004c0007t0003 a0004c0007t0011 a0011c0019t0001 a0013c0031t0001	a0001c0003t0002g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 others(31): Show a0001c0003t0002g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0029g0132 a0001c0003t0030g0123 a0001c0003t0032g0120 a0001c0005t0053g0015 a0001c0005t0065g0017 a0001c0017t0002g0014 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0124 a0002c0004t0001g0125 a0002c0004t0001g0130 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0004g0116 a0002c0004t0020g0131 a0002c0004t0020g0136 a0002c0004t0039g0118 a0002c0004t0040g0129 a0002c0004t0041g0122 a0002c0004t0042g0137 a0002c0004t0044g0114 a0003c0008t0010g0166 a0003c0008t0017g0162 a0003c0008t0050g0163 a0004c0007t0003g0158 a0004c0007t0003g0159 a0004c0007t0003g0160 a0004c0007t0011g0161 a0011c0019t0001g0113 a0013c0031t0001g0164	34	170	0.2000	-49	c.107 others(70): Show c.1072-40674_1072-40626delCGGCACGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946197	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(14): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp2 HG02630.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0002c0004 a0002c0015 a0002c0033 a0002c0034 a0003c0008	a0001c0001t0008 a0001c0001t0014 a0001c0001t0054 others(13): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0054 a0001c0003t0049 a0001c0003t0052 a0001c0005t0015 a0001c0005t0047 a0001c0005t0064 a0001c0009t0016 a0001c0009t0027 a0001c0009t0062 a0002c0004t0001 a0002c0015t0001 a0002c0033t0006 a0002c0034t0006 a0003c0008t0013	a0001c0001t0008g0030 a0001c0001t0014g0051 a0001c0001t0054g0050 others(14): Show a0001c0001t0008g0030 a0001c0001t0014g0051 a0001c0001t0054g0050 a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 a0001c0005t0047g0018 a0001c0005t0064g0016 a0001c0009t0016g0011 a0001c0009t0027g0001 a0001c0009t0062g0008 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0015t0001g0013 a0002c0033t0006g0168 a0002c0034t0006g0169 a0003c0008t0013g0167	17	170	0.1000	-49	c.107 others(70): Show c.1072-41059_1072-41011delGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946603	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0140 a0001c0003t0015g0140	1	170	0.0059	-49	c.107 others(70): Show c.1072-41465_1072-41417delGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946685	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03490.hp1 HG02135.hp1 HG03490.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0041 a0002c0004t0001 a0002c0004t0041	a0002c0004t0001g0130 a0002c0004t0041g0122 a0002c0004t0001g0130 a0002c0004t0041g0122	2	170	0.0118	-49	c.107 others(70): Show c.1072-41547_1072-41499delACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE4D_chr5_58964038_59898726	59798252	GCCTGTGT others(42): Show GCCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGT	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	74	0.0135	-49	c.455 others(68): Show c.455+94867_455+94915delACAAACACACACACACACACACACAC ACACACACACACACACACACAGG	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149923530	TAACATAA others(42): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0003 a0001c0034t0003	a0001c0034t0003g0319 a0001c0034t0003g0319	1	328	0.0031	-49	c.859 others(66): Show c.859-1870_859-1822delTGTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDS5B_chr13_32581452_32783019	32717001	CCGTCCGG others(42): Show CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02257.hp1 HG02572.hp1 others(14): Show HG02132.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp1 HG04184.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 others(3): Show a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0035 a0001c0001t0038	a0001c0001t0008g0297 a0001c0001t0008g0301 a0001c0001t0008g0304 others(14): Show a0001c0001t0008g0297 a0001c0001t0008g0301 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0017g0302 a0001c0001t0017g0303 a0001c0001t0017g0312 a0001c0001t0018g0201 a0001c0001t0023g0298 a0001c0001t0023g0299 a0001c0001t0035g0300 a0001c0001t0038g0309	17	334	0.0509	-49	c.212 others(68): Show c.2123+6944_2123+6992delTCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCC	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDX1_chr13_27915000_27931313	27925294	TTCTTTTC others(42): Show TTCTTTTCCCTCCTCTTCCTCTTCCTCCTGCTCTCCTTTCCTCCCCCTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01074.hp2 others(9): Show HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp2 HG02257.hp1 HG02258.hp2 HG02630.hp1 HG02976.hp2 HG04115.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 a0001c0001t0007 a0001c0001t0009 a0001c0001t0023	a0001c0001t0007g0004 a0001c0001t0009g0007 a0001c0001t0023g0003 a0001c0001t0007g0004 a0001c0001t0009g0007 a0001c0001t0023g0003	12	434	0.0277	-49	c.64 others(58): Show c.648_*696delTCCCTCCTCTTCCTCTTCCTCCTGCTCTCCTTTCCT CCCCCTCCTCTTT	PDX1	ENSG00000139515.6	transcript	ENST00000381033.5	protein_coding	2/2	648	INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43743179	ATGGGGAC others(42): Show ATGGGGACACCTCGCCTGCATCCACCTCCCTCCCCCCGCCCCCAGCACTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(9): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01975.hp2 HG02486.hp1 HG02602.hp2 HG02683.hp2 HG03831.hp2 HG04115.hp2 NA18971.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0006 a0001c0001t0051 a0001c0001t0052 others(2): Show a0001c0001t0006 a0001c0001t0051 a0001c0001t0052 a0001c0001t0091 a0003c0006t0006	a0001c0001t0006g0215 a0001c0001t0006g0317 a0001c0001t0006g0318 others(9): Show a0001c0001t0006g0215 a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0006g0319 a0001c0001t0006g0320 a0001c0001t0006g0321 a0001c0001t0006g0322 a0001c0001t0006g0323 a0001c0001t0051g0025 a0001c0001t0052g0358 a0001c0001t0091g0116 a0003c0006t0006g0324	12	358	0.0335	-49	c.248 others(64): Show c.248-525_248-477delTCCACCTCCCTCCCCCCGCCCCCAGCACTG TGGGGACACCTCGCCTGCA	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PER2_chr2_238239044_238293610	238269276	CACTGAAC others(42): Show CACTGAACACACTCACGGTGCACTGCTGCAAACACACCAACTAACCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03654.hp1 HG01346.hp1 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0011 a0001c0001t0001 a0003c0007t0011	a0001c0001t0001g0209 a0003c0007t0011g0275 a0001c0001t0001g0209 a0003c0007t0011g0275	2	370	0.0054	-49	c.773 others(64): Show c.773-351_773-303delTGCAGGTTAGTTGGTGTGTTTGCAGCAGTG CACCGTGAGTGTGTTCAGT	PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	6/22			chr2	TogoVar
PEX5_chr12_7184686_7216459	7197095	GTAATTAT others(42): Show GTAATTATATATGTCATATAATGTAATAATATATGTCATATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01928.hp1 HG01952.hp1 others(11): Show HG01081.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02109.hp1 HG02293.hp1 HG02886.hp2 HG03139.hp2 HG03654.hp1 HG03669.hp1 NA18963.hp1 NA18972.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0154	14	428	0.0327	-49	c.449 others(66): Show c.449-1896_449-1848delATGTAATAATATATGTCATATATAATGT AATAATTATATATGTCATATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3085072	CCCAGCAC others(42): Show CCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCGCCACTCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02630.hp2 others(9): Show HG00408.hp2 HG00423.hp2 HG02630.hp2 HG02970.hp2 HG03017.hp2 HG03540.hp2 NA18955.hp1 NA19007.hp2 NA19030.hp2 NA19068.hp1 NA19087.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0058	a0001c0001t0002 a0001c0001t0003 a0001c0002t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0006 a0001c0003t0014 a0001c0005t0004 a0001c0005t0006 a0001c0007t0005 a0001c0008t0005 a0001c0009t0001 a0001c0011t0004 a0001c0016t0009 a0001c0058t0010	a0001c0001t0002g0225 a0001c0001t0003g0018 a0001c0002t0006g0229 others(9): Show a0001c0001t0002g0225 a0001c0001t0003g0018 a0001c0002t0006g0229 a0001c0003t0014g0228 a0001c0005t0004g0221 a0001c0005t0006g0217 a0001c0007t0005g0179 a0001c0008t0005g0177 a0001c0009t0001g0224 a0001c0011t0004g0196 a0001c0016t0009g0180 a0001c0058t0010g0215	12	402	0.0299	-49	c.186 others(66): Show c.186+2619_186+2667delGGTCCCCCACTCCCTCCCCAGCACGGTC CGCCACTCCACTCTCCAGCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHETA1_chr12_111355679_111374095	111360576	TGGGACCA others(42): Show TGGGACCACACACTAGTCCCTGCCCTTGCACAGCCTGCTCTGGGCTCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0016 a0002c0002t0007g0016	1	380	0.0026	-49	c.20 others(60): Show c.2053_*2101delGCAGAGCCCAGAGCAGGCTGTGCAAGGGCAGGGA CTAGTGTGTGGTCCC	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		102		chr12	TogoVar
PHF8_chrX_53931680_54049473	53967232	TCTGCCCG others(42): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	186	0.0054	-49	c.244 others(68): Show c.2444-4342_2444-4294delGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAG	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	18/21			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681466	CGGCCAGC others(42): Show CGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0124 a0001c0004t0001g0125	2	237	0.0084	-49	c.537 others(66): Show c.537+2983_537+3031delAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGCACGGCTGGCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PI4K2A_chr10_97635671_97681434	97678879	GGGTGTGT others(42): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0052 a0001c0002t0031g0052	1	350	0.0029	-49	c.51 others(60): Show c.5138_*5186delGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2446		chr10	TogoVar
PIAS4_chr19_4002736_4044386	4011843	TGGGGTGT others(42): Show TGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0209 a0001c0002t0006g0209	1	334	0.0030	-49	c.28- others(64): Show c.28-1062_28-1014delTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GGGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO1_chr16_88710338_88790220	88731361	AGCACTTG others(42): Show AGCACTTGGGTGTGAGGCATCACGGCCGACCCGCACGGGGCCCGGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0119 a0001c0101t0001g0119	1	282	0.0036	-49	c.319 others(66): Show c.3196+296_3196+344delCCTCTCCGGGCCCCGTGCGGGTCGGCCG TGATGCCTCACACCCAAGTGC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10968616	AAATAAAA others(42): Show AAATAAAAGTGCAAGGTAAAGAAAAAATATTTAAAACAATAATTATCAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02809.hp2 others(4): Show HG02258.hp1 HG02572.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2 NA18522.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0014	a0001c0039 a0001c0065 a0002c0001 others(3): Show a0001c0039 a0001c0065 a0002c0001 a0006c0004 a0011c0060 a0014c0036	a0001c0039t0001 a0001c0065t0002 a0002c0001t0001 others(4): Show a0001c0039t0001 a0001c0065t0002 a0002c0001t0001 a0002c0001t0002 a0006c0004t0003 a0011c0060t0003 a0014c0036t0002	a0001c0039t0001g0004 a0001c0065t0002g0003 a0002c0001t0001g0087 others(4): Show a0001c0039t0001g0004 a0001c0065t0002g0003 a0002c0001t0001g0087 a0002c0001t0002g0151 a0006c0004t0003g0149 a0011c0060t0003g0078 a0014c0036t0002g0037	7	158	0.0443	-49	c.286 others(68): Show c.286+10870_286+10918delATTGATAATTATTGTTTTAAATATTT TTTCTTTACCTTGCACTTTTATT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIGU_chr20_34555542_34682092	34631755	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02155.hp2 NA18972.hp2 others(2): Show HG02074.hp1 HG02155.hp2 NA18972.hp2 NA19003.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129	5	320	0.0156	-49	c.529 others(66): Show c.529+2811_529+2859delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34659232	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG04204.hp1 HG01167.hp1 HG02559.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0157 a0001c0001t0005g0003 a0001c0001t0001g0023 a0001c0001t0001g0157 a0001c0001t0005g0003	3	320	0.0094	-49	c.131 others(66): Show c.131-2037_131-1989delTGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	1/11			chr20	TogoVar
PIGV_chr1_26782950_26805659	26803744	GCCCCCCA others(42): Show GCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03654.hp1 HG02965.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	282	0.0071	-49	c.59 others(60): Show c.5901_*5949delCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGAC	PIGV	ENSG00000060642.12	transcript	ENST00000674202.1	protein_coding		3086		chr1	TogoVar
PIGV_chr1_26782950_26805659	26803951	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-49	c.61 others(60): Show c.6108_*6156delCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGAGCCCCCCACCTC	PIGV	ENSG00000060642.12	transcript	ENST00000674202.1	protein_coding		3293		chr1	TogoVar
PIH1D1_chr19_49441298_49456814	49444282	CTCTGTCT others(42): Show CTCTGTCTTCCTTCCTTTCCCCTTCCTCCTTCCTTTTTCTTTCTCTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00642.hp2 others(32): Show HG00423.hp1 HG00423.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01975.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp2 NA18941.hp1 NA18957.hp1 NA18980.hp1 NA19057.hp2 NA19060.hp2 NA19078.hp2 NA19080.hp2 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0006g0027	35	366	0.0956	-49	c.20 others(60): Show c.2051_*2099delAAGAAGAGAAAGAAAAAGGAAGGAGGAAGGGGAA AGGAAGGAAGACAGA	PIH1D1	ENSG00000104872.11	transcript	ENST00000262265.10	protein_coding		2015		chr19	TogoVar
PIK3R5_chr17_8873916_8970707	8884992	GCCCATCT others(42): Show GCCCATCTCCGCTGTGATCACACATTCCCAGGGTCCTGCCTCTCCAGGGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	298	0.0034	-49	c.212 others(66): Show c.2129-258_2129-210delGCCCTGGAGAGGCAGGACCCTGGGAATG TGTGATCACAGCGGAGATGGG	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18			chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8885015	ATTCCCAG others(42): Show ATTCCCAGGGTCCTGCCTCTCCAGGGCCCCATCTCCGCTGTGATCACACC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02572.hp2 others(8): Show HG02109.hp1 HG02257.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0023 a0001c0004 a0001c0012 a0001c0023	a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 others(2): Show a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 a0001c0012t0001 a0001c0023t0001	a0001c0004t0001g0079 a0001c0004t0001g0093 a0001c0004t0001g0218 others(8): Show a0001c0004t0001g0079 a0001c0004t0001g0093 a0001c0004t0001g0218 a0001c0004t0001g0259 a0001c0004t0001g0265 a0001c0004t0001g0273 a0001c0004t0008g0111 a0001c0004t0011g0260 a0001c0012t0001g0109 a0001c0012t0001g0151 a0001c0023t0001g0153	11	298	0.0369	-49	c.212 others(66): Show c.2129-281_2129-233delGGTGTGATCACAGCGGAGATGGGGCCCT GGAGAGGCAGGACCCTGGGAA	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18			chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3649054	CCCGGCAC others(42): Show CCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0187 a0001c0002t0014g0187	1	332	0.0030	-49	c.112 others(66): Show c.1128-395_1128-347delTGACAGTTAACTCCCGCGCTGGGCAGGG GACGTGTGGGCATGGTGCCGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649066	CCCACACG others(42): Show CCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATG	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0214 a0001c0002t0005g0214	1	332	0.0030	-49	c.112 others(66): Show c.1128-407_1128-359delCATGGTGCCGGGTGACAGTTAACTCCCG CGCTGGGCAGGGGACGTGTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6560582	ATTCTCTT others(42): Show ATTCTCTTCCTTCTCCTTCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0105 a0001c0006t0012g0105	1	218	0.0046	-49	c.-42 others(60): Show c.-4225_-4177delACGAGGAAGAGGAGAAGGAGGAGGAAGAGGAGAA GGAGAAGGAAGAGAA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4028		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560949	CCCCTCTT others(42): Show CCCCTCTTCCTCCTCTTCCTCCTCCCCTCTTCTTCCTCCTTCTCTTCATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0048 a0001c0006t0005g0048	1	218	0.0046	-49	c.-45 others(60): Show c.-4592_-4544delAATGAAGAGAAGGAGGAAGAAGAGGGGAGGAGGA AGAGGAGGAAGAGGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4395		chr17	TogoVar
PJA2_chr5_109329722_109414974	109341550	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 NA18906.hp1 HG02559.hp1 HG02723.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006	3	346	0.0087	-49	c.200 others(68): Show c.2001+2591_2001+2639delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109341785	GGCCCCCC others(42): Show GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	346	0.0029	-49	c.200 others(68): Show c.2001+2356_2001+2404delTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109341796	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(75): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02293.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18949.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA19002.hp2 NA19043.hp2 NA19057.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0024 a0003c0003t0002 others(3): Show a0001c0001t0003 a0001c0001t0024 a0003c0003t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0023	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0009 others(75): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0024g0343 a0003c0003t0002g0002 a0003c0003t0002g0050 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0059 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0122 a0003c0003t0002g0286 a0003c0003t0002g0288 a0003c0003t0002g0298 a0003c0003t0002g0300 a0003c0003t0002g0301 a0003c0003t0002g0303 a0003c0003t0002g0304 a0003c0003t0008g0320 a0003c0003t0011g0341 a0003c0003t0011g0342 a0003c0003t0023g0340	78	346	0.2254	-49	c.200 others(68): Show c.2001+2345_2001+2393delAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109341972	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG03130.hp2 others(1): Show HG01243.hp1 HG02717.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0271 a0001c0001t0004g0272 others(1): Show a0001c0001t0004g0197 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0277	4	346	0.0116	-49	c.200 others(68): Show c.2001+2169_2001+2217delCGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109342064	TCCGCCCG others(42): Show TCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGATGTCGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(72): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA19002.hp2 NA19057.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0008 a0003c0003t0011 others(2): Show a0003c0003t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0003c0003t0023	a0003c0003t0002g0002 a0003c0003t0002g0050 a0003c0003t0002g0051 others(72): Show a0003c0003t0002g0002 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0122 a0003c0003t0002g0286 a0003c0003t0002g0297 a0003c0003t0002g0298 a0003c0003t0002g0299 a0003c0003t0002g0300 a0003c0003t0002g0301 a0003c0003t0002g0303 a0003c0003t0002g0304 a0003c0003t0008g0320 a0003c0003t0011g0341 a0003c0003t0011g0342 a0003c0003t0021g0074 a0003c0003t0023g0340	75	346	0.2168	-49	c.200 others(68): Show c.2001+2077_2001+2125delGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314985	AGGAAGGA others(42): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0285 a0009c0026t0001g0285	1	306	0.0033	-49	c.349 others(68): Show c.349+14177_349+14225delCTTCCCTTCCCTTCCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKNOX2_chr11_125159751_125438389	125425503	CTCCAATA others(42): Show CTCCAATAACGATCAGAGAGCAGCCACTGTGCCTTGATGGTTTGCCGTGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01069.hp2 others(35): Show HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01256.hp1 HG01978.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG04228.hp2 NA18747.hp1 NA18942.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18981.hp1 NA18986.hp1 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19064.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013	a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0020 others(35): Show a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0050 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0132 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0011g0030 a0001c0001t0011g0220 a0001c0001t0013g0067	38	222	0.1712	-49	c.937 others(66): Show c.937-3451_937-3403delCGATCAGAGAGCAGCCACTGTGCCTTGA TGGTTTGCCGTGATCCAATAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125425561	CGATCAGA others(42): Show CGATCAGAGAGCAGCCACTGTGCCTTGATGGTTTGCCGTGATCCAATAAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	222	0.0045	-49	c.937 others(66): Show c.937-3415_937-3367delCGTGATCCAATAATGATCAGAGAGCAGC CACTGTGCCTTGATGGTTTGC	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP2_chr12_32785755_32901777	32858104	TATATATA others(42): Show TATATATATATATTTATATATATTTTATATTTATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19004.hp2 NA18944.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0312 a0002c0002t0005g0317 a0002c0002t0005g0312 a0002c0002t0005g0317	2	342	0.0059	-49	c.117 others(68): Show c.1171-7180_1171-7132delTTATATATATATATATATAAATATAA AATATATATAAATATATATATAT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PLCL1_chr2_197799593_198154863	197866110	ATATATAT others(42): Show ATATATATATATAAACTATATATATATATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0028 a0001c0006t0016 a0001c0003t0028 a0001c0006t0016	a0001c0003t0028g0142 a0001c0006t0016g0144 a0001c0003t0028g0142 a0001c0006t0016g0144	2	204	0.0098	-49	c.240 others(68): Show c.240+60784_240+60832delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197866144	ATATATAT others(42): Show ATATATATATATAAACTATATATATATATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0052 a0001c0011t0052	a0001c0011t0052g0052 a0001c0011t0052g0052	1	204	0.0049	-49	c.240 others(68): Show c.240+60818_240+60866delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar

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