Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PGM2L1_chr11_74325316_74403433	74402679	TATATAAT others(47): Show TATATAATATATATTATGTATATATAATGTGTGTATATATACATATATAT GTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0316 a0002c0002t0005g0316	1	378	0.0026	-54	c.-45 others(65): Show c.-4572_-4519delTATACATATATATGTATATATACACACATTATAT ATACATAATATATATTATAT		PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding					4247		chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13064564	ATATATAT others(47): Show ATATATATATATATATATATATATATATATATATATATATATCTATATAT CTATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG02572.hp2 others(12): Show HG00735.hp2 HG02486.hp2 HG02572.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0029 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0003g0048 a0001c0001t0005g0064	15	108	0.1389	-54	c.415 others(73): Show c.415+11039_415+11092delATATATATATATATATATATATATAT ATATATATATATCTATATATCTATCTAT		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF20_chr20_35767015_35955370	35901905	AGTGTAAA others(47): Show AGTGTAAACCTGAGTTCTTGTGATTAGTTTGTGAGCTAATCTTTTTAATA AGCCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp2 others(42): Show HG00408.hp2 HG00597.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01433.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02109.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03490.hp1 HG03516.hp1 HG04115.hp1 HG04228.hp2 NA18906.hp2 NA18947.hp1 NA18950.hp1 NA18955.hp1 NA18979.hp2 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19077.hp2 NA19082.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0007 a0001c0005t0002 a0002c0002t0002 others(4): Show a0001c0001t0007 a0001c0005t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0002t0017	a0001c0001t0007g0112 a0001c0001t0007g0179 a0001c0001t0007g0180 others(42): Show a0001c0001t0007g0112 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0187 a0001c0005t0002g0149 a0001c0005t0002g0155 a0002c0002t0002g0096 a0002c0002t0003g0097 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0122 a0002c0002t0003g0124 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0148 a0002c0002t0003g0205 a0002c0002t0008g0113 a0002c0002t0008g0121 a0002c0002t0008g0123 a0002c0002t0008g0140 a0002c0002t0008g0147 a0002c0002t0016g0120 a0002c0002t0017g0127	45	204	0.2206	-54	c.156 others(73): Show c.1561+2314_1561+2367delGTAAACCTGAGTTCTTGTGATTAGTT TGTGAGCTAATCTTTTTAATAAGCCTGT		PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(47): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02647.hp2 HG04199.hp1 others(2): Show HG02300.hp2 HG02647.hp2 HG04199.hp1 NA19030.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0012 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0003 a0001c0005t0001	a0001c0001t0001g0160 a0001c0001t0001g0283 a0001c0001t0012g0237 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0283 a0001c0001t0012g0237 a0001c0003t0003g0096 a0001c0005t0001g0002	5	148	0.0338	-54	c.51 others(65): Show c.5139_*5192delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding					2447		chr10	TogoVar
PIBF1_chr13_72777133_73021461	72844728	TACACACA others(47): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02451.hp2 HG01891.hp1 HG02280.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0344 a0001c0006t0002g0345 a0001c0006t0002g0346 a0001c0006t0002g0344 a0001c0006t0002g0345 a0001c0006t0002g0346	3	151	0.0199	-54	c.122 others(73): Show c.1224-9310_1224-9257delACACACACACACACACACACACACAC ACACACACACACACACACACACACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229139027	GAAAGAAA others(47): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	253	0.0040	-54	c.177 others(73): Show c.177+16737_177+16790delTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCTCTTTCTTTCTTT		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PID1_chr2_229018973_229276287	229139035	GAAAGAGA others(47): Show GAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp2 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0022 a0001c0001t0003 a0001c0002t0022	a0001c0001t0003g0134 a0001c0002t0022g0216 a0001c0001t0003g0134 a0001c0002t0022g0216	2	244	0.0082	-54	c.177 others(73): Show c.177+16729_177+16782delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTCTTT		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10720391	GTGTGTGT others(47): Show GTGTGTGTGTGTGTATGTGTATGTGTATGTATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0034 a0001c0028t0001g0034	1	140	0.0071	-54	c.503 others(73): Show c.5030-2186_5030-2133delTATATATATATATATATATATATATA CATACACATACACATACACACACACACA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886326	ATATATAT others(47): Show ATATATATATATATATATACACACACACACACACACATATATATGTGTGT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0020 a0020	a0020c0066 a0020c0066	a0020c0066t0002 a0020c0066t0002	a0020c0066t0002g0119 a0020c0066t0002g0119	1	158	0.0063	-54	c.330 others(73): Show c.330-14965_330-14912delCACACACACACATATATATGTGTGTG TGTGTGTGTGTATATATATATATATATA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIGN_chr18_62036164_62192056	62125103	CGTTTGTA others(47): Show CGTTTGTACATATGTGTATATAAATATACACGTTTGTACATATGTGTATA TACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00735.hp1 others(18): Show HG00280.hp2 HG00423.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02074.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03688.hp1 HG03834.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0040 a0001c0005t0042 others(1): Show a0001c0005t0004 a0001c0005t0040 a0001c0005t0042 a0001c0005t0043	a0001c0005t0004g0052 a0001c0005t0004g0112 a0001c0005t0004g0113 others(18): Show a0001c0005t0004g0052 a0001c0005t0004g0112 a0001c0005t0004g0113 a0001c0005t0004g0114 a0001c0005t0004g0116 a0001c0005t0004g0157 a0001c0005t0004g0158 a0001c0005t0004g0159 a0001c0005t0004g0161 a0001c0005t0004g0162 a0001c0005t0004g0163 a0001c0005t0004g0164 a0001c0005t0004g0165 a0001c0005t0004g0166 a0001c0005t0004g0167 a0001c0005t0004g0168 a0001c0005t0004g0170 a0001c0005t0004g0171 a0001c0005t0040g0172 a0001c0005t0042g0160 a0001c0005t0043g0115	21	316	0.0665	-54	c.117 others(75): Show c.1173-10518_1173-10465delATGTATATACACATATGTACAAAC GTGTATATTTATATACACATATGTACAAAC		PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30						chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42076093	TATATATA others(47): Show TATATATATATATATATATATATATATATGCGCATATATATATATATATA TGCGC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	334	0.0030	-54	c.265 others(73): Show c.2650-5015_2650-4962delATATATATATATATGCGCATATATAT ATATATATATGCGCATATATATATATAT		PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24					INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3R1_chr5_68210756_68306821	68262746	TAGATACA others(47): Show TAGATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATA CGTAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG03516.hp2 HG02615.hp1 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0002 a0001c0009t0002 a0001c0009t0019 a0001c0008t0002 a0001c0009t0002 a0001c0009t0019	a0001c0008t0002g0124 a0001c0009t0002g0284 a0001c0009t0019g0276 a0001c0008t0002g0124 a0001c0009t0002g0284 a0001c0009t0019g0276	3	306	0.0098	-54	c.335 others(73): Show c.335-10642_335-10589delGATACATGTATACATATATACATGTA GATGCATGTAGATACATGTATACGTAGA		PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr5	TogoVar
PIP4K2A_chr10_22529854_22719578	22664100	TATACATA others(47): Show TATACATATATATATACATATATATATATACATATATATATACATATATA TACAC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0138 a0002c0003t0009g0138	1	199	0.0050	-54	c.144 others(73): Show c.144+50029_144+50082delGTGTATATATATGTATATATATATGT ATATATATATATGTATATATATATGTAT		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9						chr10	TogoVar
PITPNA_chr17_1512718_1567792	1551033	TGGGACAC others(47): Show TGGGACACGAAGGGCGAGTGAGAGTATTGCGGGGCGGAGTCAGCGGGACC TGATG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	366	0.0027	-54	c.197 others(71): Show c.197+1917_197+1970delCATCAGGTCCCGCTGACTCCGCCCCGCA ATACTCTCACTCGCCCTTCGTGTCCC		PITPNA	ENSG00000174238.16	transcript	ENST00000313486.12	protein_coding	3/11						chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560715	TTCCTCCT others(47): Show TTCCTCCTCCTCCTTCTCCTCCTCCTTCTCATTGTCCTCCTTCTCCTCCT CTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0120 a0001c0002t0011g0120	1	214	0.0047	-54	c.-43 others(65): Show c.-4363_-4310delGGAAGAGGAGGAGAAGGAGGACAATGAGAAGGAG GAGGAGAAGGAGGAGGAGGA		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4161		chr17	TogoVar
PKD1_chr16_2083708_2140898	2127901	CCAGGGAG others(47): Show CCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGG GCTGG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	165	0.0061	-54	c.215 others(71): Show c.215+7520_215+7573delCCAGCCCCTCCCACCTCTCCCTCCCTGC CAGCCCCTCCCACCTCTCCCTCCCTG		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45						chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314985	AGGAAGGA others(47): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAG GGAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0016 a0008c0019t0001g0016	1	183	0.0055	-54	c.349 others(73): Show c.349+14172_349+14225delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKP3_chr11_389209_409908	402392	CCCCGGAC others(47): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0007 a0001c0007t0001g0007	1	214	0.0047	-54	c.173 others(71): Show c.1738-682_1738-629delGGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGGCTCCACTGACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402462	CCCCGGAC others(47): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02027.hp1 HG01243.hp2 HG02027.hp1	a0001 a0001	a0001c0007 a0001c0012 a0001c0007 a0001c0012	a0001c0007t0001 a0001c0012t0001 a0001c0007t0001 a0001c0012t0001	a0001c0007t0001g0010 a0001c0012t0001g0120 a0001c0007t0001g0010 a0001c0012t0001g0120	2	152	0.0132	-54	c.173 others(71): Show c.1738-612_1738-559delGGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGGCTCCACTGACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAC8_chr4_83085048_83119729	83100479	TCTCAGGT others(47): Show TCTCAGGTACTTCTTTATAGCAATGCGAGAACCTTTTCTTTATAAGTTAC CCAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0151 others(134): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0244 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0182 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0289 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0045 a0001c0001t0003g0060 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0147 a0001c0001t0003g0176 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0195 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0252 a0001c0001t0003g0258 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0309 a0001c0001t0004g0040 a0001c0001t0004g0200 a0001c0001t0004g0208 a0001c0001t0004g0231 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0009g0052 a0001c0001t0009g0061 a0001c0001t0009g0062 a0001c0001t0009g0063 a0001c0001t0009g0271 a0001c0001t0009g0278 a0001c0001t0011g0067 a0001c0001t0011g0069 a0001c0001t0011g0196 a0001c0001t0015g0191 a0001c0001t0015g0199 a0001c0001t0017g0310 a0001c0001t0021g0230 a0001c0001t0026g0211	173	406	0.4261	-54	c.243 others(71): Show c.243+4363_243+4416delGCTGGGTAACTTATAAAGAAAAGGTTCT CGCATTGCTATAAAGAAGTACCTGAG		PLAC8	ENSG00000145287.11	transcript	ENST00000311507.9	protein_coding	3/4						chr4	TogoVar
PLCL2_chr3_16879955_17095604	17085738	CATGCCCG others(47): Show CATGCCCGGCCCAATTTATTTCTTATATACCAGCAAAGAACAAGTGGAAT TCGAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	248	0.0040	-54	c.320 others(73): Show c.3205-3992_3205-3939delGCCCGGCCCAATTTATTTCTTATATA CCAGCAAAGAACAAGTGGAATTCGAAAT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	287606	AGATATAG others(47): Show AGATATAGATACTATATATGTTTATATATAGATATAGATACTATATATGT TTATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(67): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG02056.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02922.hp2 HG03195.hp2 HG04184.hp1 NA18612.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19074.hp2 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0002c0005 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075 a0001c0001t0097 a0001c0003t0002 a0001c0003t0006 a0001c0003t0017 a0001c0003t0024 a0001c0003t0038 a0001c0003t0039 a0001c0003t0063 a0001c0003t0077 a0001c0006t0003 a0001c0014t0062 a0002c0005t0026 a0004c0012t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0163 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0004g0025 a0001c0001t0004g0041 a0001c0001t0004g0110 a0001c0001t0005g0035 a0001c0001t0005g0081 a0001c0001t0005g0098 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0077 a0001c0001t0014g0028 a0001c0001t0014g0119 a0001c0001t0016g0002 a0001c0001t0017g0099 a0001c0001t0028g0066 a0001c0001t0030g0064 a0001c0001t0031g0014 a0001c0001t0032g0063 a0001c0001t0033g0069 a0001c0001t0034g0067 a0001c0001t0040g0065 a0001c0001t0043g0012 a0001c0001t0044g0024 a0001c0001t0047g0023 a0001c0001t0048g0047 a0001c0001t0061g0166 a0001c0001t0064g0036 a0001c0001t0065g0029 a0001c0001t0066g0153 a0001c0001t0067g0052 a0001c0001t0068g0103 a0001c0001t0069g0043 a0001c0001t0074g0082 a0001c0001t0075g0044 a0001c0001t0097g0034 a0001c0003t0002g0011 a0001c0003t0002g0013 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0165 a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 a0001c0003t0017g0048 a0001c0003t0024g0033 a0001c0003t0024g0058 a0001c0003t0038g0005 a0001c0003t0039g0005 a0001c0003t0063g0049 a0001c0003t0077g0164 a0001c0006t0003g0126 a0001c0014t0062g0094 a0002c0005t0026g0031 a0004c0012t0005g0045	70	174	0.4023	-54	c.128 others(71): Show c.128-1108_128-1055delGTTTATATATAGATATAGATACTATATA TGTTTATGGATATAGATACTATATAT		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD1_chr3_171595404_171815483	171764870	AGAAAGAA others(47): Show AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAAGAAA GAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0011 a0007c0014t0011	a0007c0014t0011g0180 a0007c0014t0011g0180	1	284	0.0035	-54	c.-31 others(73): Show c.-31-26842_-31-26789delCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTC		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171764883	GAAAGAAA others(47): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAA GGAAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0062 a0001c0016t0004g0062	1	290	0.0034	-54	c.-31 others(73): Show c.-31-26855_-31-26802delTTTCCTTTCTTTCCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTTCTTTCTTT		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLEC_chr8_143910153_143978529	143955248	AGGTGGAC others(47): Show AGGTGGACCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGC AAAAC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0055 a0055	a0055c0068 a0055c0068	a0055c0068t0001 a0055c0068t0001	a0055c0068t0001g0264 a0055c0068t0001g0264	1	300	0.0033	-54	c.71- others(71): Show c.71-16610_71-16557delGTTTTGCCATGTTGGCCAGGCTGGTCTC AAACTCCTGACCTCAAGTGGTCCACC		PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	1/31						chr8	TogoVar
PLEKHG4B_chr5_87168_194966	165152	ACACTAAT others(47): Show ACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCG GAGCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp1 HG02818.hp2 NA18906.hp1	a0013 a0030 a0013 a0030	a0013c0027 a0030c0026 a0013c0027 a0030c0026	a0013c0027t0052 a0030c0026t0056 a0013c0027t0052 a0030c0026t0056	a0013c0027t0052g0170 a0030c0026t0056g0168 a0013c0027t0052g0170 a0030c0026t0056g0168	2	203	0.0099	-54	c.347 others(73): Show c.3476+1608_3476+1661delTAATGCTCTGACGGGGCGGGGCTCAC AGTACTCCTCTGACGGGGCGGAGCTCAC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165243	TGCTCTGA others(47): Show TGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACA CTAAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0037 a0037	a0037c0062 a0037c0062	a0037c0062t0012 a0037c0062t0012	a0037c0062t0012g0164 a0037c0062t0012g0164	1	197	0.0051	-54	c.347 others(73): Show c.3476+1718_3476+1771delTAATGCTCTGACGGGGCGGGGCTCAC ACTAACGCTCTGACGGGGCGGGGCTCAC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166481	CGGGGCGG others(47): Show CGGGGCGGGGCTCACAGTAATCTTCTGACGGGGCGGAGCTCACACTAATG CTCTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0098 a0002c0005t0013g0098	1	207	0.0048	-54	c.347 others(73): Show c.3477-2858_3477-2805delGGGGCGGGGCTCACAGTAATCTTCTG ACGGGGCGGAGCTCACACTAATGCTCTG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19						chr5	TogoVar
PLK3_chr1_44795377_44810990	44796029	TATATATA others(47): Show TATATATAAAAATATATAACAATATATAAATATATAAATATATAACAATA TATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01167.hp1 HG01884.hp1 others(25): Show HG00673.hp2 HG01167.hp1 HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18988.hp1 NA18989.hp2 NA19004.hp2 NA19043.hp2 NA19083.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0004t0001g0012	28	381	0.0735	-54	c.-44 others(65): Show c.-4434_-4381delATATATAAAAATATATAACAATATATAAATATAT AAATATATAACAATATATAA		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					4347		chr1	TogoVar
PLLP_chr16_57251097_57289672	57277185	ACTGAGAG others(47): Show ACTGAGAGTGGGCATGAAGGAGTCAACTTTAACCAAAAGGGAACAGAGAT TTTTC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	368	0.0027	-54	c.135 others(71): Show c.135+7167_135+7220delGAAAAATCTCTGTTCCCTTTTGGTTAAA GTTGACTCCTTCATGCCCACTCTCAG		PLLP	ENSG00000102934.10	transcript	ENST00000219207.10	protein_coding	1/3						chr16	TogoVar
PLXDC2_chr10_19811432_20294856	20126483	AACACACA others(47): Show AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02080.hp1 HG03654.hp1 others(12): Show HG01496.hp1 HG02080.hp1 HG03654.hp1 HG03669.hp1 NA18945.hp1 NA18954.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18978.hp1 NA18982.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0012 a0001c0001t0014 a0001c0001t0068 others(11): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0068 a0001c0001t0115 a0001c0001t0121 a0001c0005t0056 a0001c0005t0119 a0002c0002t0002 a0002c0002t0007 a0002c0002t0020 a0002c0002t0093 a0003c0003t0009 a0003c0003t0024 a0004c0004t0078	a0001c0001t0012g0027 a0001c0001t0012g0176 a0001c0001t0014g0029 others(12): Show a0001c0001t0012g0027 a0001c0001t0012g0176 a0001c0001t0014g0029 a0001c0001t0068g0173 a0001c0001t0115g0072 a0001c0001t0121g0068 a0001c0005t0056g0022 a0001c0005t0119g0042 a0002c0002t0002g0017 a0002c0002t0007g0038 a0002c0002t0020g0080 a0002c0002t0093g0119 a0003c0003t0009g0115 a0003c0003t0024g0066 a0004c0004t0078g0126	15	73	0.2055	-54	c.542 others(73): Show c.542-16805_542-16752delACGTTATATATGTATATATAACACAC ACGTTATATATGTATATATAACACACAC		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126719	CACGTTAT others(47): Show CACGTTATATATGTATATAGAACACACACGTTATATATGTATATAGAACA CACAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01109.hp1 others(37): Show HG00642.hp2 HG00673.hp1 HG01109.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp2 NA18747.hp2 NA18945.hp1 NA18954.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18978.hp1 NA18982.hp1 NA19043.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 others(33): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0001t0046 a0001c0001t0054 a0001c0001t0059 a0001c0001t0060 a0001c0001t0067 a0001c0001t0068 a0001c0001t0072 a0001c0001t0087 a0001c0001t0088 a0001c0001t0115 a0001c0001t0116 a0001c0001t0121 a0001c0005t0056 a0001c0005t0118 a0001c0005t0119 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0052 a0002c0002t0053 a0002c0002t0064 a0002c0002t0093 a0002c0002t0099 a0002c0002t0113 a0003c0003t0009 a0003c0003t0024 a0003c0003t0082 a0003c0003t0103 a0004c0004t0078	a0001c0001t0012g0027 a0001c0001t0012g0176 a0001c0001t0014g0029 others(37): Show a0001c0001t0012g0027 a0001c0001t0012g0176 a0001c0001t0014g0029 a0001c0001t0017g0142 a0001c0001t0028g0153 a0001c0001t0028g0159 a0001c0001t0031g0003 a0001c0001t0046g0008 a0001c0001t0054g0135 a0001c0001t0059g0148 a0001c0001t0060g0073 a0001c0001t0067g0032 a0001c0001t0068g0173 a0001c0001t0072g0062 a0001c0001t0087g0095 a0001c0001t0088g0141 a0001c0001t0115g0072 a0001c0001t0116g0052 a0001c0001t0121g0068 a0001c0005t0056g0022 a0001c0005t0118g0048 a0001c0005t0119g0042 a0002c0002t0001g0076 a0002c0002t0002g0017 a0002c0002t0006g0012 a0002c0002t0006g0075 a0002c0002t0006g0149 a0002c0002t0007g0038 a0002c0002t0019g0108 a0002c0002t0052g0174 a0002c0002t0053g0137 a0002c0002t0064g0020 a0002c0002t0093g0119 a0002c0002t0099g0177 a0002c0002t0113g0045 a0003c0003t0009g0115 a0003c0003t0024g0066 a0003c0003t0082g0145 a0003c0003t0103g0087 a0004c0004t0078g0126	40	178	0.2247	-54	c.542 others(73): Show c.542-16575_542-16522delACGTTATATATGTATATAGAACACAC ACGTTATATATGTATATAGAACACACAT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13						chr10	TogoVar
PLXNC1_chr12_94143577_94312675	94177149	GTATATAT others(47): Show GTATATATATATGTATATATATATATACGTATATATATGTATATATATAT ACGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0172 a0001c0043t0001g0172	1	282	0.0035	-54	c.120 others(73): Show c.1204-4287_1204-4234delATGTATATATATATATACGTATATAT ATGTATATATATATACGTATATATATAT		PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr12	TogoVar
PNCK_chrX_153664733_153678813	153677860	GTATATAT others(47): Show GTATATATACACTAACCCATGTACATATAGATAGATATGTAGTATATATA GTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02897.hp2 HG02109.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0003g0046 a0001c0001t0001g0015 a0001c0001t0003g0046	3	273	0.0110	-54	c.-41 others(65): Show c.-4137_-4084delTACACTATATATACTACATATCTATCTATATGTA CATGGGTTAGTGTATATATA		PNCK	ENSG00000130822.16	transcript	ENST00000340888.8	protein_coding					4048		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153398131	GCTCCTGC others(47): Show GCTCCTGCCTCACCTGCGCCTCCTGCCTCACCTGCTGCTCCTGCCTCACC TACAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 HG02109.hp1 HG02717.hp1 HG00735.hp1 HG02109.hp1 HG02717.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0024 a0007c0007t0007g0024	3	339	0.0088	-54	c.665 others(61): Show c.665_718delGTGTAGGTGAGGCAGGAGCAGCAGGTGAGGCAGGAGGC GCAGGTGAGGCAGGAG	p.Gly others(13): Show p.Gly222_Gly239del	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	896/3389	665/1944	222/647			chrX	TogoVar
POLR3F_chr20_18462390_18489646	18486127	AATATATA others(47): Show AATATATATAAAAATATATATGTAAATATAAATATATATATATGTAAATA TAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18971.hp1 NA18978.hp2 NA18957.hp1 NA18971.hp1 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0011 a0001c0002t0007g0045 a0001c0002t0007g0011 a0001c0002t0007g0045	3	369	0.0081	-54	c.25 others(65): Show c.2570_*2623delATATATATAAAAATATATATGTAAATATAAATAT ATATATATGTAAATATAAAT		POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding					1482		chr20	TogoVar
POLRMT_chr19_612221_638537	613578	CGGGGATG others(47): Show CGGGGATGGGGATGGGGATGGGGATGGGGCCGGGGATGGGGATGGGGATG GGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03486.hp2 HG01123.hp2 HG03486.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0029 a0003c0002 a0004c0029	a0003c0002t0004 a0004c0029t0002 a0003c0002t0004 a0004c0029t0002	a0003c0002t0004g0004 a0004c0029t0002g0199 a0003c0002t0004g0004 a0004c0029t0002g0199	2	365	0.0055	-54	c.36 others(65): Show c.3642_*3695delATCCCCATCCCCATCCCCATCCCCGGCCCCATCC CCATCCCCATCCCCATCCCC		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding					3642		chr19	TogoVar
POR_chr7_75910155_75991855	75988932	TGTGGAGG others(47): Show TGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGT GGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG02896.hp1 others(2): Show HG02109.hp2 HG02647.hp2 HG02896.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0239 a0001c0007t0001g0242 a0001c0007t0001g0243 others(2): Show a0001c0007t0001g0239 a0001c0007t0001g0242 a0001c0007t0001g0243 a0001c0007t0001g0244 a0001c0007t0001g0245	5	244	0.0205	-54	c.24 others(65): Show c.2452_*2505delGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGG AAGGCCGGGTGGGGTGGGGG		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2078		chr7	TogoVar
POR_chr7_75910155_75991855	75988980	GTGGGGGG others(47): Show GTGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGGC CGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0180 a0002c0001t0002g0180	1	264	0.0038	-54	c.25 others(65): Show c.2500_*2553delTGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGG GGTGGAGGGGAAGGCCGGGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2126		chr7	TogoVar
POTEI_chr2_130454455_130514328	130506800	CCCGGCCT others(47): Show CCCGGCCTTTCATTCCTCTTCTAACTTAAATAGAAAGCAGTATTTCATTC CTCTT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0081 a0001c0001t0020g0081	1	124	0.0081	-54	c.521 others(71): Show c.521+1861_521+1914delAAGAGGAATGAAATACTGCTTTCTATTT AAGTTAGAAGAGGAATGAAAGGCCGG		POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding	1/14						chr2	TogoVar
POTEM_chr14_18962434_19008752	18969281	ATACACAT others(47): Show ATACACATGTATATATATGTATATACGTATATATATGTATATATATATAT ATACG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0015 a0010c0010t0015	a0010c0010t0015g0004 a0010c0010t0015g0004	1	66	0.0152	-54	c.521 others(71): Show c.521+1278_521+1331delCACATGTATATATATGTATATACGTATA TATATGTATATATATATATATACGTA		POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
POU6F2_chr7_38972909_39473601	39454655	GATATATA others(47): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA21309.hp1 HG02615.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0011 a0002c0008t0030 a0001c0005t0011 a0002c0008t0030	a0001c0005t0011g0060 a0002c0008t0030g0051 a0001c0005t0011g0060 a0002c0008t0030g0051	2	8	0.2500	-54	c.148 others(73): Show c.1489+2974_1489+3027delTATATATATATATATATATATATATA TATATATATATATATATATATATATATA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
PP2D1_chr3_19980346_20017264	20014938	TCCTTAAT others(47): Show TCCTTAATGTGCCTGACAAAGCTCTGTCTCTGTTGGCGTCTGCTAATTTC TCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-54	c.-29 others(65): Show c.-2920_-2867delCTGGAGAAATTAGCAGACGCCAACAGAGACAGAG CTTTGTCAGGCACATTAAGG		PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding					2675		chr3	TogoVar
PPP1R16B_chr20_38800697_38928024	38895843	TCCTCCTT others(47): Show TCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCT CCCTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp2 NA18943.hp2 others(2): Show HG01192.hp1 HG02630.hp2 NA18943.hp2 NA19010.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0074	5	147	0.0340	-54	c.467 others(69): Show c.467+195_467+248delCCTTCTTTCTTCCCTCCCTCCCTCCTTCCT TCTTTCTTCCCTCCCTCCCTCCTT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895905	CCTTCTTT others(47): Show CCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCT CCTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp1 HG02109.hp2 others(4): Show HG01358.hp1 HG01516.hp1 HG02109.hp2 HG02165.hp2 NA18948.hp1 NA18948.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0090 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0231 a0001c0001t0013g0142	7	238	0.0294	-54	c.467 others(69): Show c.467+232_467+285delTCCCTCCCTCCCTCCTTTCTTCTTTCTTCC CTCCCTCCCTCCTTCCTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP2R3B_chrX_328933_391907	344207	GGAGGCGG others(47): Show GGAGGCGGGATTGAGACCTCACCAACGGGAGGCCGGAGTGAGACCTCACC AAGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	24	0.0417	-54	c.103 others(73): Show c.1036+1255_1036+1308delTCCTTGGTGAGGTCTCACTCCGGCCT CCCGTTGGTGAGGTCTCAATCCCGCCTC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12						chrX	TogoVar
PPP4R2_chr3_72991811_73074198	73004910	CATGTGTG others(47): Show CATGTGTGTGTGTTTGTGTGTTTTGAGTCGGAGTCGTGTGTGTGTGTGTG TGTGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0087 a0001c0002t0019g0087	1	357	0.0028	-54	c.116 others(71): Show c.116+6753_116+6806delATGTGTGTGTGTTTGTGTGTTTTGAGTC GGAGTCGTGTGTGTGTGTGTGTGTGT		PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8						chr3	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(47): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00735.hp2 others(19): Show HG00323.hp2 HG00423.hp1 HG00735.hp2 HG01167.hp1 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02683.hp1 HG03471.hp1 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 NA18970.hp1 NA18974.hp2 NA19030.hp1 NA19064.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0003t0011 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0011 a0001c0006t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 others(19): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0195 a0001c0001t0001g0245 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0003t0001g0003 a0001c0003t0001g0021 a0001c0003t0001g0087 a0001c0003t0001g0291 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0301 a0001c0003t0001g0305 a0001c0003t0001g0318 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0011g0294 a0001c0006t0001g0302	22	80	0.2750	-54	c.135 others(71): Show c.1356-643_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACACACA		PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50338563	GTGTGTGT others(47): Show GTGTGTGTTTGGTGTGGTGTGTGTTTGTGGTGTGTGGTGTGTGTGGTATG TAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	338	0.0030	-54	c.-51 others(65): Show c.-5134_-5081delTGTGTGTTTGGTGTGGTGTGTGTTTGTGGTGTGT GGTGTGTGTGGTATGTAGTA		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding					4763		chr22	TogoVar
PRDM15_chr21_41793225_41884344	41845168	CACACACA others(47): Show CACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCTCCCCCCTCA CAGGG	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19068.hp1 NA18940.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0103 a0001c0002t0002g0104	2	178	0.0112	-54	c.640 others(71): Show c.640+1868_640+1921delCCCTGTGAGGGGGGAGGGGCTGTGTGTC CCTGTGAGGGGGGAGGGGCTGTGTGT		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23						chr21	TogoVar

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