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
PCLAF_chr15_64359304_64386441	64384798	TGTGCTTG others(26): Show TGTGCTTGCATTGCTCAGGCAGAAATGTAATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0082 a0001c0001t0020g0082	1	298	0.0034	-33	c.-34 others(44): Show c.-3460_-3428delTAAATTACATTTCTGCCTGAGCAATGCAAGCAC	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding		3358		chr15	TogoVar
PCNT_chr21_46319156_46450769	46379230	GGGGCTGC others(26): Show GGGGCTGCGTGTCGTGAGCTGCGCCCGTCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01192.hp1 others(3): Show HG01069.hp1 HG01106.hp1 HG01192.hp1 HG01891.hp2 HG02723.hp2 NA20805.hp1	a0014 a0025 a0014 a0025	a0014c0014 a0025c0029 a0014c0014 a0025c0029	a0014c0014t0004 a0025c0029t0001 a0014c0014t0004 a0025c0029t0001	a0014c0014t0004g0329 a0014c0014t0004g0330 a0014c0014t0004g0331 others(3): Show a0014c0014t0004g0329 a0014c0014t0004g0330 a0014c0014t0004g0331 a0014c0014t0004g0332 a0025c0029t0001g0109 a0025c0029t0001g0120	6	332	0.0181	-33	c.316 others(52): Show c.3166-2445_3166-2413delTGCGCCCGTCTTCCTGGGCTGCGTGT CGTGAGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70951746	CTCCAGAA others(26): Show CTCCAGAAAATTTCGTTAGAATTTTGATGACAAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03486.hp1 HG01496.hp1 HG03486.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0031 a0001c0013t0031	a0001c0013t0031g0348 a0001c0013t0031g0349 a0001c0013t0031g0348 a0001c0013t0031g0349	2	352	0.0057	-33	c.362 others(50): Show c.362+4626_362+4658delCAGAAAATTTCGTTAGAATTTTGATGAC AATTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK5_chr9_75885673_76367975	75994396	CTTTCTTT others(26): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0093 a0001c0001t0026g0093	1	166	0.0060	-33	c.411 others(50): Show c.411+8155_411+8187delCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101334169	CGACACAG others(26): Show CGACACAGGAAGTTGTTCTCACCGCTGCAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(55): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00673.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02897.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03669.hp1 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0002c0008 a0003c0024 a0003c0063 a0003c0064 a0005c0069 a0006c0029 a0007c0025 a0007c0067 a0009c0041 a0010c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0005t0002 a0001c0005t0004 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0010t0001 a0001c0013t0002 a0002c0008t0001 a0002c0008t0002 a0003c0024t0002 a0003c0024t0004 a0003c0063t0001 a0003c0064t0004 a0005c0069t0004 a0006c0029t0001 a0007c0025t0001 a0007c0067t0001 a0009c0041t0001 a0010c0065t0004	a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0269 others(55): Show a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0226 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0271 a0001c0001t0002g0292 a0001c0001t0004g0154 a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0002t0001g0170 a0001c0002t0001g0203 a0001c0002t0001g0253 a0001c0002t0001g0264 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0004g0185 a0001c0002t0004g0240 a0001c0002t0004g0252 a0001c0003t0002g0050 a0001c0003t0002g0059 a0001c0003t0002g0120 a0001c0003t0003g0113 a0001c0004t0001g0043 a0001c0004t0001g0081 a0001c0004t0001g0103 a0001c0004t0004g0042 a0001c0004t0004g0087 a0001c0004t0004g0131 a0001c0005t0002g0158 a0001c0005t0002g0207 a0001c0005t0004g0205 a0001c0005t0004g0219 a0001c0006t0001g0079 a0001c0007t0002g0095 a0001c0009t0001g0245 a0001c0009t0001g0282 a0001c0010t0001g0223 a0001c0010t0001g0249 a0001c0013t0002g0064 a0002c0008t0001g0029 a0002c0008t0002g0016 a0002c0008t0002g0027 a0003c0024t0002g0321 a0003c0024t0004g0315 a0003c0063t0001g0316 a0003c0064t0004g0317 a0005c0069t0004g0334 a0006c0029t0001g0006 a0007c0025t0001g0324 a0007c0067t0001g0327 a0009c0041t0001g0085 a0010c0065t0004g0322	58	336	0.1726	-33	c.185 others(52): Show c.1859-2171_1859-2139delACTGCTGCAGCGGTGAGAACAACTTC CTGTGTC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PDE11A_chr2_177618244_178077777	177631501	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0151 a0001c0003t0014g0151	1	170	0.0059	-33	c.264 others(52): Show c.2647-1972_2647-1940delATATATATATATATATATATATTTTT TTTTTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE4B_chr1_65787895_66379574	66131585	AATGCCAG others(26): Show AATGCCAGATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	118	0.0085	-33	c.282 others(54): Show c.282-115872_282-115840delGCCAGATATATATATATATATATA TATATATAT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4DIP_chr1_148839428_149038016	148847867	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0004 a0010c0007t0004	a0010c0007t0004g0001 a0010c0007t0004g0001	1	24	0.0417	-33	c.20+ others(48): Show c.20+3089_20+3121delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE8A_chr15_84976856_85144142	85026380	TACATGTA others(26): Show TACATGTAGACTCTCCATGTGGTCTGGGCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	344	0.0029	-33	c.187 others(52): Show c.187-37986_187-37954delTGTAGACTCTCCATGTGGTCTGGGCT TCTCACA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDGFD_chr11_103902189_104169147	104034281	AACATTAT others(26): Show AACATTATTCACGTCTGTTTCCCTAGAACTTAGC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02129.hp2 HG03688.hp2 others(10): Show HG01255.hp1 HG02129.hp2 HG03688.hp2 HG04199.hp1 NA18949.hp2 NA18953.hp2 NA18964.hp1 NA18980.hp1 NA18985.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0018 a0003c0005t0002	a0001c0001t0002g0104 a0001c0001t0002g0118 a0001c0001t0003g0007 others(10): Show a0001c0001t0002g0104 a0001c0001t0002g0118 a0001c0001t0003g0007 a0001c0001t0003g0082 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0002t0001g0078 a0001c0002t0001g0105 a0002c0003t0018g0087 a0003c0005t0002g0187	13	200	0.0650	-33	c.125 others(52): Show c.125-34059_125-34027delGCTAAGTTCTAGGGAAACAGACGTGA ATAATGT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDLIM2_chr8_22575475_22599298	22597813	TGCCTGTG others(26): Show TGCCTGTGAGAAGCGGAATGGGTACTGTCTAGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	380	0.0026	-33	c.39 others(44): Show c.3904_*3936delGCCTGTGAGAAGCGGAATGGGTACTGTCTAGGA	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		3516		chr8	TogoVar
PDLIM7_chr5_177478394_177502604	177482750	CAGCTGGC others(26): Show CAGCTGGCCCCTCCAGGACTTTGCTGTGGCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	440	0.0023	-33	c.86 others(42): Show c.861_*893delAATGGCCACAGCAAAGTCCTGGAGGGGCCAGCT	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		643		chr5	TogoVar
PDP2_chr16_66875515_66896101	66893521	ATATATAT others(26): Show ATATATATATATATATATATATATGTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02071.hp2 others(6): Show HG00408.hp2 HG00621.hp1 HG02071.hp2 HG02523.hp2 HG03492.hp1 NA18947.hp1 NA19081.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0031	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0005g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0031g0035	9	356	0.0253	-33	c.76 others(44): Show c.7648_*7680delTATATATATATATATATATATATGTATATATAT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2421		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893523	ATATATAT others(26): Show ATATATATATATATATATATATGTATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01943.hp2 HG03490.hp1 others(7): Show HG01261.hp1 HG01943.hp2 HG03490.hp1 HG03490.hp2 NA18940.hp2 NA18943.hp2 NA19010.hp2 NA19064.hp1 NA19064.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0063	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0063g0001	10	356	0.0281	-33	c.76 others(44): Show c.7650_*7682delTATATATATATATATATATATGTATATATATTT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2423		chr16	TogoVar
PDZD11_chrX_70281595_70294927	70290606	CTGAACAG others(26): Show CTGAACAGCTGGGGCCAAATGGTAACGAGGGGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-33	c.-79 others(42): Show c.-793_-761delCACCCCTCGTTACCATTTGGCCCCAGCTGTTCA	PDZD11	ENSG00000120509.12	transcript	ENST00000239666.9	protein_coding		680		chrX	TogoVar
PDZD2_chr5_31634131_32115932	31691379	CACAGAGC others(26): Show CACAGAGCGAAAGAACAAAGCTCCCGTAGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02055.hp1 others(16): Show HG01192.hp2 HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0019 a0033 a0034	a0001c0001 a0001c0007 a0001c0024 others(10): Show a0001c0001 a0001c0007 a0001c0024 a0002c0003 a0004c0029 a0004c0041 a0005c0009 a0006c0015 a0007c0013 a0008c0014 a0019c0046 a0033c0042 a0034c0033	a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 a0001c0007t0009 a0001c0007t0047 a0001c0024t0007 a0002c0003t0002 a0004c0029t0049 a0004c0041t0031 a0005c0009t0013 a0006c0015t0040 a0007c0013t0004 a0008c0014t0004 a0019c0046t0014 a0033c0042t0014 a0034c0033t0007	a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0008g0068 others(16): Show a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0008g0068 a0001c0001t0008g0181 a0001c0001t0041g0210 a0001c0007t0009g0058 a0001c0007t0009g0142 a0001c0007t0047g0035 a0001c0024t0007g0046 a0002c0003t0002g0197 a0004c0029t0049g0001 a0004c0041t0031g0114 a0005c0009t0013g0167 a0006c0015t0040g0213 a0007c0013t0004g0198 a0008c0014t0004g0178 a0019c0046t0014g0157 a0033c0042t0014g0187 a0034c0033t0007g0072	19	216	0.0880	-33	c.-36 others(54): Show c.-361+51944_-361+51976delCAGAGCGAAAGAACAAAGCTCCCG TAGAGTGGA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31848598	AACCAGCC others(26): Show AACCAGCCAGGTGTGGTGGTGGGCACCTGTAATC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00621.hp2 others(17): Show HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG01975.hp2 HG02080.hp1 HG02135.hp1 HG02257.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03927.hp2 NA18939.hp2 NA18973.hp1 NA19000.hp2 NA19009.hp2 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0025	a0001c0001 a0001c0005 a0001c0007 others(9): Show a0001c0001 a0001c0005 a0001c0007 a0001c0035 a0001c0036 a0002c0002 a0002c0003 a0003c0004 a0003c0008 a0005c0009 a0009c0020 a0025c0037	a0001c0001t0003 a0001c0001t0020 a0001c0001t0044 others(16): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0044 a0001c0005t0002 a0001c0007t0009 a0001c0035t0039 a0001c0036t0019 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020 a0003c0004t0042 a0003c0008t0006 a0003c0008t0012 a0005c0009t0013 a0009c0020t0001 a0025c0037t0001	a0001c0001t0003g0009 a0001c0001t0020g0019 a0001c0001t0044g0006 others(17): Show a0001c0001t0003g0009 a0001c0001t0020g0019 a0001c0001t0044g0006 a0001c0005t0002g0100 a0001c0007t0009g0183 a0001c0035t0039g0209 a0001c0036t0019g0211 a0002c0002t0001g0104 a0002c0002t0003g0021 a0002c0002t0006g0155 a0002c0003t0002g0103 a0002c0003t0002g0164 a0002c0003t0005g0028 a0002c0003t0020g0033 a0003c0004t0042g0025 a0003c0008t0006g0109 a0003c0008t0012g0030 a0005c0009t0013g0203 a0009c0020t0001g0188 a0025c0037t0001g0127	20	216	0.0926	-33	c.476 others(52): Show c.476+48875_476+48907delACCAGCCAGGTGTGGTGGTGGGCACC TGTAATC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24			chr5	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18988.hp2 NA18989.hp1 others(1): Show HG03834.hp2 NA18988.hp2 NA18989.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0277	4	322	0.0124	-33	c.872 others(52): Show c.872+16557_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41402537	GTGTATAC others(26): Show GTGTATACATATATATATATATACTGAGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	206	0.0049	-33	c.844 others(54): Show c.844-103917_844-103885delGTATACATATATATATATATACTG AGTATATAT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77127094	CTTCTAAG others(26): Show CTTCTAAGAACAGACACTGGGGCGTGCTTGCACA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	326	0.0031	-33	c.407 others(52): Show c.4077+5878_4077+5910delTGTGCAAGCACGCCCCAGTGTCTGTT CTTAGAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	9/9			chr15	TogoVar
PER1_chr17_8135472_8157404	8141756	TTGAACTT others(26): Show TTGAACTTGAGCTCAATTCTTTTTTCTCCCCGTC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	426	0.0024	-33	c.360 others(48): Show c.3600+16_3600+48delGACGGGGAGAAAAAAGAATTGAGCTCAAGT TCA	PER1	ENSG00000179094.16	transcript	ENST00000317276.9	protein_coding	22/22			chr17	TogoVar
PERM1_chr1_970198_987093	976874	GCCAACCC others(26): Show GCCAACCCCGGGAACCGCCTCCCACTCCCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0043 a0001c0015t0002g0043	1	408	0.0025	-33	c.215 others(50): Show c.2150-283_2150-251delGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976906	GCCAACCC others(26): Show GCCAACCCCGGGAACCGCCTCCCACTCCCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0213 a0005c0006t0005g0213	1	408	0.0025	-33	c.215 others(50): Show c.2150-315_2150-283delGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX14_chr1_10469950_10635758	10577554	ATATATAT others(26): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02897.hp2 HG02622.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0118 a0002c0005t0001g0234 a0001c0001t0001g0118 a0002c0005t0001g0234	2	258	0.0078	-33	c.170 others(52): Show c.170-21682_170-21650delATATATATTTTTTTTTTTTTTTTTTT TTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PF4V1_chr4_73848296_73859483	73855075	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(67): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG03540.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18953.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0002c0003t0001g0001	70	448	0.1563	-33	c.95 others(42): Show c.954_*986delTATATATATATATATATATATATATATATATTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		593		chr4	TogoVar
PF4V1_chr4_73848296_73859483	73855077	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18949.hp2 NA18951.hp2 others(7): Show HG00597.hp1 NA18949.hp2 NA18951.hp2 NA18967.hp1 NA18981.hp1 NA18991.hp1 NA19001.hp2 NA19002.hp1 NA19054.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	448	0.0223	-33	c.95 others(42): Show c.956_*988delTATATATATATATATATATATATATATATTTTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		595		chr4	TogoVar
PFDN4_chr20_54203087_54224961	54223155	CCCCACAC others(26): Show CCCCACACACACCTGAGCCCCACACACACCTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	438	0.0023	-33	c.40 others(44): Show c.4006_*4038delCCCACACACACCTGAGCCCCACACACACCTGAG	PFDN4	ENSG00000101132.10	transcript	ENST00000371419.7	protein_coding		3195		chr20	TogoVar
PFKL_chr21_44295053_44332373	44330469	ACTCGGAG others(26): Show ACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	392	0.0026	-33	c.36 others(44): Show c.3608_*3640delCTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGT	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding		3097		chr21	TogoVar
PFKP_chr10_3062548_3141802	3136887	AAAGATTA others(26): Show AAAGATTAGCAAAATATTTTTATAGGGATCACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(127): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 others(20): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0020 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0029 a0001c0031 a0001c0044 a0001c0053 a0001c0057 a0001c0062 a0001c0065 a0001c0066	a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 others(35): Show a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0003t0012 a0001c0003t0014 a0001c0004t0007 a0001c0005t0007 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0006t0013 a0001c0006t0021 a0001c0008t0001 a0001c0009t0001 a0001c0009t0007 a0001c0009t0014 a0001c0010t0001 a0001c0015t0001 a0001c0015t0013 a0001c0016t0001 a0001c0016t0007 a0001c0016t0009 a0001c0020t0001 a0001c0020t0013 a0001c0022t0001 a0001c0024t0001 a0001c0024t0009 a0001c0025t0009 a0001c0026t0001 a0001c0028t0007 a0001c0029t0001 a0001c0031t0001 a0001c0044t0009 a0001c0053t0001 a0001c0057t0009 a0001c0062t0001 a0001c0065t0001 a0001c0066t0007	a0001c0003t0001g0009 a0001c0003t0001g0021 a0001c0003t0001g0033 others(127): Show a0001c0003t0001g0009 a0001c0003t0001g0021 a0001c0003t0001g0033 a0001c0003t0001g0038 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0067 a0001c0003t0001g0085 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0003t0001g0097 a0001c0003t0001g0106 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0003t0001g0123 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0139 a0001c0003t0001g0145 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0169 a0001c0003t0001g0183 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0255 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0268 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0284 a0001c0003t0001g0297 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0367 a0001c0003t0001g0376 a0001c0003t0007g0103 a0001c0003t0007g0149 a0001c0003t0007g0157 a0001c0003t0009g0190 a0001c0003t0012g0051 a0001c0003t0012g0263 a0001c0003t0012g0287 a0001c0003t0014g0020 a0001c0003t0014g0228 a0001c0004t0007g0079 a0001c0004t0007g0398 a0001c0004t0007g0399 a0001c0005t0007g0032 a0001c0006t0001g0008 a0001c0006t0001g0035 a0001c0006t0001g0048 a0001c0006t0001g0065 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0115 a0001c0006t0001g0121 a0001c0006t0001g0197 a0001c0006t0001g0203 a0001c0006t0001g0218 a0001c0006t0001g0291 a0001c0006t0001g0327 a0001c0006t0001g0340 a0001c0006t0007g0082 a0001c0006t0007g0250 a0001c0006t0007g0402 a0001c0006t0012g0118 a0001c0006t0013g0019 a0001c0006t0021g0144 a0001c0008t0001g0267 a0001c0009t0001g0043 a0001c0009t0001g0054 a0001c0009t0001g0091 a0001c0009t0001g0096 a0001c0009t0001g0125 a0001c0009t0001g0224 a0001c0009t0001g0258 a0001c0009t0001g0322 a0001c0009t0007g0081 a0001c0009t0014g0086 a0001c0010t0001g0080 a0001c0010t0001g0163 a0001c0010t0001g0216 a0001c0010t0001g0231 a0001c0010t0001g0236 a0001c0010t0001g0355 a0001c0010t0001g0358 a0001c0015t0001g0028 a0001c0015t0001g0073 a0001c0015t0001g0075 a0001c0015t0001g0379 a0001c0015t0013g0066 a0001c0016t0001g0222 a0001c0016t0007g0050 a0001c0016t0007g0057 a0001c0016t0009g0180 a0001c0020t0001g0156 a0001c0020t0001g0324 a0001c0020t0013g0136 a0001c0022t0001g0280 a0001c0022t0001g0294 a0001c0022t0001g0305 a0001c0024t0001g0356 a0001c0024t0009g0168 a0001c0025t0009g0187 a0001c0025t0009g0226 a0001c0026t0001g0171 a0001c0026t0001g0400 a0001c0028t0007g0214 a0001c0028t0007g0244 a0001c0029t0001g0275 a0001c0029t0001g0304 a0001c0031t0001g0027 a0001c0031t0001g0042 a0001c0044t0009g0181 a0001c0053t0001g0141 a0001c0057t0009g0332 a0001c0062t0001g0176 a0001c0065t0001g0165 a0001c0066t0007g0257	130	402	0.3234	-33	c.30 others(42): Show c.309_*341delAAGATTAGCAAAATATTTTTATAGGGATCACTG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		86		chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59674364	CCCTTCTC others(26): Show CCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03704.hp2 NA19058.hp2 others(1): Show HG00621.hp1 HG03704.hp2 NA19058.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0183 a0001c0001t0004g0180 a0001c0001t0005g0055 others(1): Show a0001c0001t0001g0183 a0001c0001t0004g0180 a0001c0001t0005g0055 a0001c0001t0005g0113	4	250	0.0160	-33	c.119 others(52): Show c.119-68713_119-68681delTCCTCCTTCTCCTGTTCCTTCCCCTT CTCCTGT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHKA1_chrX_72573814_72719306	72578491	AAAGAAAA others(26): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG03195.hp2 HG01099.hp1 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023	3	237	0.0127	-33	c.24 others(44): Show c.2478_*2510delCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding		322		chrX	TogoVar
PHKG2_chr16_30743425_30766176	30748999	GGGTGGTG others(26): Show GGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG01109.hp2 others(6): Show HG00609.hp1 HG01106.hp2 HG01109.hp2 HG02145.hp2 HG02723.hp2 NA18982.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0030	a0001c0001t0001g0080 a0001c0001t0002g0049 a0001c0001t0002g0078 others(4): Show a0001c0001t0001g0080 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0003g0011 a0001c0001t0005g0156 a0001c0001t0017g0011 a0001c0001t0030g0081	9	264	0.0341	-33	c.95+ others(46): Show c.95+143_95+175delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT G	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749058	GTGGTGGT others(26): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	264	0.0038	-33	c.95+ others(46): Show c.95+146_95+178delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT G	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLDB1_chr11_118602615_118663028	118607329	TGTGGTGG others(26): Show TGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0020 a0020	a0020c0015 a0020c0015	a0020c0015t0002 a0020c0015t0002	a0020c0015t0002g0233 a0020c0015t0002g0233	1	356	0.0028	-33	c.-39 others(42): Show c.-391_-359delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding		285		chr11	TogoVar
PI4K2A_chr10_97635671_97681434	97678912	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	350	0.0029	-33	c.51 others(44): Show c.5171_*5203delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2479		chr10	TogoVar
PID1_chr2_229018973_229276287	229139035	GAAAGAGA others(26): Show GAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	256	0.0039	-33	c.177 others(52): Show c.177+16750_177+16782delTCTTTCTTTCTCTTTCTTTCTTTCTT TCTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229139039	GAGAAAGA others(26): Show GAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	256	0.0039	-33	c.177 others(52): Show c.177+16746_177+16778delTCTTTCTTTCTTTCTCTTTCTTTCTT TCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10782273	CAATTATA others(26): Show CAATTATATAATATAATTATAATTATATATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01175.hp2 others(24): Show HG00140.hp2 HG00558.hp1 HG01175.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG03017.hp2 HG03492.hp2 HG03516.hp1 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18994.hp1 NA18998.hp1 NA19011.hp1 NA20129.hp1	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0007 a0010 a0013 a0015 a0016 a0031	a0001c0002 a0001c0007 a0001c0021 others(15): Show a0001c0002 a0001c0007 a0001c0021 a0001c0028 a0001c0033 a0001c0088 a0003c0011 a0003c0012 a0003c0063 a0006c0004 a0007c0026 a0007c0090 a0010c0014 a0013c0027 a0013c0089 a0015c0025 a0016c0020 a0031c0062	a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0021t0002 a0001c0028t0001 a0001c0033t0002 a0001c0088t0001 a0003c0011t0001 a0003c0012t0001 a0003c0063t0001 a0006c0004t0001 a0007c0026t0001 a0007c0090t0001 a0010c0014t0002 a0013c0027t0002 a0013c0089t0002 a0015c0025t0001 a0016c0020t0002 a0031c0062t0001	a0001c0002t0001g0096 a0001c0002t0001g0128 a0001c0002t0001g0155 others(24): Show a0001c0002t0001g0096 a0001c0002t0001g0128 a0001c0002t0001g0155 a0001c0002t0002g0091 a0001c0007t0001g0041 a0001c0007t0001g0113 a0001c0021t0002g0093 a0001c0028t0001g0031 a0001c0033t0002g0035 a0001c0088t0001g0130 a0003c0011t0001g0034 a0003c0011t0001g0054 a0003c0012t0001g0032 a0003c0012t0001g0098 a0003c0063t0001g0030 a0006c0004t0001g0152 a0007c0026t0001g0007 a0007c0026t0001g0065 a0007c0090t0001g0134 a0010c0014t0002g0005 a0010c0014t0002g0124 a0013c0027t0002g0048 a0013c0089t0002g0060 a0015c0025t0001g0050 a0015c0025t0001g0082 a0016c0020t0002g0114 a0031c0062t0001g0016	27	158	0.1709	-33	c.249 others(52): Show c.2493-1940_2493-1908delATTTATATATAATTATAATTATATTA TATAATT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	17/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10795318	TTTATTTT others(26): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp2 HG01496.hp1 others(2): Show HG01123.hp1 HG01192.hp2 HG01496.hp1 HG02148.hp2 NA19063.hp2	a0001 a0004 a0020 a0001 a0004 a0020	a0001c0007 a0001c0028 a0004c0005 others(1): Show a0001c0007 a0001c0028 a0004c0005 a0020c0067	a0001c0007t0001 a0001c0028t0001 a0004c0005t0002 others(1): Show a0001c0007t0001 a0001c0028t0001 a0004c0005t0002 a0020c0067t0001	a0001c0007t0001g0100 a0001c0007t0001g0121 a0001c0028t0001g0126 others(2): Show a0001c0007t0001g0100 a0001c0007t0001g0121 a0001c0028t0001g0126 a0004c0005t0002g0045 a0020c0067t0001g0051	5	158	0.0317	-33	c.152 others(50): Show c.1528-349_1528-317delTAAAATAAAATAAAATAAAATAAAATAA AATAA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10944488	CATATATA others(26): Show CATATATATATATATATATCTTAGTAACAGATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(40): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01496.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03710.hp1 NA18522.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18962.hp1 NA18970.hp1 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19063.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0015 a0016 a0020 a0025 a0032	a0001c0002 a0001c0006 a0001c0007 others(27): Show a0001c0002 a0001c0006 a0001c0007 a0001c0039 a0001c0058 a0001c0087 a0002c0001 a0002c0018 a0002c0023 a0002c0069 a0002c0072 a0003c0009 a0003c0011 a0003c0012 a0004c0005 a0004c0022 a0005c0013 a0006c0004 a0007c0026 a0007c0042 a0007c0090 a0008c0070 a0010c0014 a0011c0060 a0012c0064 a0015c0085 a0016c0020 a0020c0067 a0025c0053 a0032c0052	a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 others(29): Show a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0039t0001 a0001c0058t0001 a0001c0087t0001 a0002c0001t0001 a0002c0001t0002 a0002c0018t0002 a0002c0023t0001 a0002c0069t0001 a0002c0072t0001 a0003c0009t0001 a0003c0011t0001 a0003c0012t0001 a0004c0005t0002 a0004c0022t0002 a0005c0013t0002 a0006c0004t0001 a0007c0026t0001 a0007c0042t0001 a0007c0090t0001 a0008c0070t0002 a0010c0014t0002 a0011c0060t0003 a0012c0064t0002 a0015c0085t0001 a0016c0020t0002 a0020c0067t0001 a0025c0053t0002 a0032c0052t0001	a0001c0002t0001g0128 a0001c0002t0002g0091 a0001c0006t0001g0099 others(40): Show a0001c0002t0001g0128 a0001c0002t0002g0091 a0001c0006t0001g0099 a0001c0006t0001g0115 a0001c0007t0001g0041 a0001c0007t0001g0113 a0001c0007t0001g0121 a0001c0039t0001g0004 a0001c0058t0001g0150 a0001c0087t0001g0033 a0002c0001t0001g0011 a0002c0001t0001g0043 a0002c0001t0001g0055 a0002c0001t0001g0057 a0002c0001t0001g0123 a0002c0001t0001g0139 a0002c0001t0001g0158 a0002c0001t0002g0039 a0002c0018t0002g0068 a0002c0023t0001g0021 a0002c0069t0001g0136 a0002c0072t0001g0044 a0003c0009t0001g0083 a0003c0011t0001g0070 a0003c0012t0001g0053 a0004c0005t0002g0080 a0004c0022t0002g0042 a0005c0013t0002g0010 a0006c0004t0001g0152 a0007c0026t0001g0065 a0007c0042t0001g0020 a0007c0090t0001g0134 a0008c0070t0002g0127 a0010c0014t0002g0005 a0010c0014t0002g0124 a0011c0060t0003g0078 a0012c0064t0002g0059 a0015c0085t0001g0064 a0016c0020t0002g0081 a0016c0020t0002g0114 a0020c0067t0001g0051 a0025c0053t0002g0067 a0032c0052t0001g0097	43	158	0.2722	-33	c.287 others(52): Show c.287-33293_287-33261delATATCTGTTACTAAGATATATATATA TATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIFO_chr1_111341622_111358013	111357554	TCATCCAA others(26): Show TCATCCAAATCAATGGTCCAAACCATGGACCAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	440	0.0023	-33	c.62 others(44): Show c.6228_*6260delCATCCAAATCAATGGTCCAAACCATGGACCAAG	PIFO	ENSG00000173947.14	transcript	ENST00000369738.9	protein_coding		4542		chr1	TogoVar
PIGL_chr17_16212210_16331411	16312527	GGCAGAGG others(26): Show GGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01169.hp2 others(4): Show HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02015.hp1 NA18947.hp1 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0129 a0001c0001t0003g0126 a0001c0001t0003g0127 others(4): Show a0001c0001t0001g0129 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0140	7	246	0.0285	-33	c.427 others(49): Show c.427-1019_427-987delGCAGAGGCTGCAATCTCGGCACTTTGGGA GGCC	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6			chr17	TogoVar
PIGN_chr18_62036164_62192056	62039697	CCATGTTT others(26): Show CCATGTTTAGGGCCCCATCCAGGGTGCCGCACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG03654.hp2 HG01168.hp2 HG03654.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0023 a0002c0002 a0008c0023	a0002c0002t0082 a0008c0023t0007 a0002c0002t0082 a0008c0023t0007	a0002c0002t0082g0115 a0008c0023t0007g0098 a0002c0002t0082g0115 a0008c0023t0007g0098	2	342	0.0059	-33	c.61 others(44): Show c.6126_*6158delATGTGCGGCACCCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1466		chr18	TogoVar
PIGU_chr20_34555542_34682092	34559138	CCCCTCCG others(26): Show CCCCTCCGGGACAGGCGGGGCGGACCTGGGCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	320	0.0031	-33	c.16 others(44): Show c.1695_*1727delCCGGCCCAGGTCCGCCCCGCCTGTCCCGGAGGG	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding		1403		chr20	TogoVar
PIGU_chr20_34555542_34682092	34631771	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	320	0.0031	-33	c.529 others(50): Show c.529+2811_529+2843delAAAAAAAAAAAAAAAAAAATATATATAT ATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIK3AP1_chr10_96588315_96725514	96613769	GGACCTCA others(26): Show GGACCTCAGCTGGTGTGTGGGCCTCTGTGTAATC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	256	0.0039	-33	c.201 others(52): Show c.2014+2837_2014+2869delGATTACACAGAGGCCCACACACCAGC TGAGGTC	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	13/16			chr10	TogoVar
PIK3C3_chr18_41950234_42092830	42009718	ATGTACAT others(26): Show ATGTACATTATGTAATGCTTACATTATGTAATGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0123 a0001c0001t0021g0124 a0001c0001t0021g0123 a0001c0001t0021g0124	2	340	0.0059	-33	c.117 others(52): Show c.1171-3723_1171-3691delTGTACATTATGTAATGCTTACATTAT GTAATGT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	10/24			chr18	TogoVar
PIK3CA_chr3_179143357_179245093	179243865	CTTGAGGT others(26): Show CTTGAGGTACTGTGCTAAAGGCCAAAAACTGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0043	1	282	0.0036	-33	c.95 others(44): Show c.9502_*9534delTTGAGGTACTGTGCTAAAGGCCAAAAACTGTTT	PIK3CA	ENSG00000121879.6	transcript	ENST00000263967.4	protein_coding		3773		chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138693936	AATATATA others(26): Show AATATATATATATATATATATATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01891.hp2 others(11): Show HG01123.hp2 HG01243.hp2 HG01891.hp2 HG02630.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0050 others(11): Show a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0010g0061	14	206	0.0680	-33	c.189 others(50): Show c.1892+817_1892+849delATAATATATATATATATATATATATATA TATAT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3R5_chr17_8873916_8970707	8885689	AGGTAACC others(26): Show AGGTAACCCCGCCCTCCCATGGCCCCACCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	298	0.0034	-33	c.212 others(50): Show c.2128+507_2128+539delCAGGAGGTGGGGCCATGGGAGGGCGGGG TTACC	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18			chr17	TogoVar

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