Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCSK4_chr19_1476428_1495350	1482605	TTGCACAC others(43): Show TTGCACACCTACTGTGCGCCTGTCACTGGACACCGACATCTCCCGGGTGA C	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	398	0.0025	-50	c.169 others(67): Show c.1697-180_1697-131delGTCACCCGGGAGATGTCGGTGTCCAGTG ACAGGCGCACAGTAGGTGTGCA	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding	13/14			chr19	TogoVar
PCSK6_chr15_101298933_101494707	101309833	CCGGCCCC others(43): Show CCGGCCCCTCTCTTAGGGAACTTATCGTGCATTGTTCTCAGCGTCGGGCC T	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0215 a0001c0002t0005g0215	1	334	0.0030	-50	c.270 others(69): Show c.2700-2558_2700-2509delAGGCCCGACGCTGAGAACAATGCACG ATAAGTTCCCTAAGAGAGGGGCCG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312089	ACCCTCAC others(43): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA C	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	290	0.0034	-50	c.269 others(69): Show c.2699+1237_2699+1286delGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD1_chr2_241844884_241863894	241846943	GTGAGTTC others(43): Show GTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	406	0.0025	-50	c.40 others(61): Show c.4065_*4114delAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2940		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847134	ATGAGAGC others(43): Show ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG03486.hp2 others(1): Show HG01496.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0003c0008t0001g0049	4	406	0.0099	-50	c.38 others(61): Show c.3874_*3923delAACACCCATTCACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2749		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847173	TGAATGGG others(43): Show TGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG03927.hp1 others(1): Show HG02258.hp2 HG03471.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0122 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0122	4	406	0.0099	-50	c.38 others(61): Show c.3835_*3884delTCAGCGCAGCGCGCCAGCATCCAGAACTCAAGGC TCTCAAACACCCATTC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2710		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847638	AAGCCTTG others(43): Show AAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(83): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18961.hp2 NA18980.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 others(1): Show a0001c0001 a0001c0006 a0001c0010 a0001c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0006g0011 a0001c0001t0008g0028 a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0006t0001g0057 a0001c0006t0001g0069 a0001c0010t0001g0079 a0001c0013t0001g0075	86	402	0.2139	-50	c.33 others(61): Show c.3370_*3419delCTCATACACCCATTCACAGCGCAGCGCGCCAGCA TCCAGAACTCAAGGCT	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2245		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847934	TTGAGAGC others(43): Show TTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG03927.hp1 others(1): Show HG02258.hp2 HG03471.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0122 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0122	4	406	0.0099	-50	c.30 others(61): Show c.3074_*3123delTTCATCCATTGACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1949		chr2	TogoVar
PDCL2_chr4_55551519_55597245	55565886	AACCCATT others(43): Show AACCCATTGTGTGGTTACAAAAACATAAATTAACAGCTGTCCTTCAACTT T	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02896.hp2 others(3): Show HG02559.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	6	374	0.0160	-50	c.363 others(67): Show c.363-3324_363-3275delAAAGTTGAAGGACAGCTGTTAATTTATG TTTTTGTAACCACACAATGGGT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	4/5			chr4	TogoVar
PDE11A_chr2_177618244_178077777	177946635	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(33): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01169.hp2 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03579.hp2 HG03942.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18966.hp2 NA19060.hp1 NA19065.hp2 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0010 a0012	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0002c0002 a0002c0004 a0003c0008 a0005c0007 a0007c0025 a0010c0019 a0012c0031	a0001c0001t0017 a0001c0001t0025 a0001c0003t0002 others(23): Show a0001c0001t0017 a0001c0001t0025 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0005t0053 a0001c0005t0065 a0001c0017t0002 a0002c0002t0001 a0002c0004t0001 a0002c0004t0004 a0002c0004t0020 a0002c0004t0039 a0002c0004t0040 a0002c0004t0042 a0003c0008t0010 a0003c0008t0017 a0003c0008t0050 a0005c0007t0003 a0005c0007t0011 a0007c0025t0048 a0010c0019t0001 a0012c0031t0001	a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 others(33): Show a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 a0001c0003t0002g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0016g0093 a0001c0003t0029g0132 a0001c0003t0030g0123 a0001c0003t0032g0120 a0001c0005t0053g0015 a0001c0005t0065g0017 a0001c0017t0002g0014 a0002c0002t0001g0094 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0124 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0004g0116 a0002c0004t0020g0131 a0002c0004t0020g0136 a0002c0004t0039g0118 a0002c0004t0040g0129 a0002c0004t0042g0114 a0003c0008t0010g0166 a0003c0008t0017g0162 a0003c0008t0050g0163 a0005c0007t0003g0158 a0005c0007t0003g0159 a0005c0007t0003g0160 a0005c0007t0011g0161 a0007c0025t0048g0097 a0010c0019t0001g0113 a0012c0031t0001g0164	36	161	0.2236	-50	c.107 others(71): Show c.1072-41498_1072-41449delCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE6B_chr4_620573_675782	635174	CGTCCACC others(43): Show CGTCCACCTCCTTACCTGCCTGCCCGCCTGCCCGCGTGTTCTGTGCTGCG T	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00621.hp2 others(19): Show HG00408.hp1 HG00423.hp2 HG00621.hp2 HG02074.hp1 HG02523.hp1 HG02809.hp1 HG02922.hp2 HG03195.hp1 HG04184.hp2 NA18943.hp2 NA18959.hp2 NA18969.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0001c0029 others(2): Show a0001c0001 a0001c0012 a0001c0029 a0003c0006 a0003c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0012t0003 a0001c0029t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0007 a0003c0010t0002 a0003c0010t0003	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0116 others(17): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0116 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0243 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0004g0181 a0001c0012t0003g0031 a0001c0012t0003g0032 a0001c0029t0001g0033 a0003c0006t0001g0194 a0003c0006t0002g0104 a0003c0006t0007g0193 a0003c0006t0007g0195 a0003c0010t0002g0191 a0003c0010t0002g0192 a0003c0010t0003g0190	22	305	0.0721	-50	c.621 others(65): Show c.621+377_621+426delCGCGTGTTCTGTGCTGCGTGTCCACCTCCT TACCTGCCTGCCCGCCTGCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	635479	CCCTGCCT others(43): Show CCCTGCCTGCCTGCCCGTGTGTTCTGTGCTGTGCGTCCACCTCCTTACCT G	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0062 a0001c0002t0004g0062	1	306	0.0033	-50	c.622 others(65): Show c.622-384_622-335delTGTGTTCTGTGCTGTGCGTCCACCTCCTTA CCTGCCTGCCTGCCTGCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651223	GGCAGTGG others(43): Show GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC A	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG01517.hp1 others(3): Show HG00642.hp2 HG01358.hp2 HG01517.hp1 HG02622.hp2 HG02683.hp1 HG03490.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0007 a0008c0028 a0001c0001 a0004c0007 a0008c0028	a0001c0001t0002 a0001c0001t0006 a0004c0007t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0004c0007t0008 a0008c0028t0008	a0001c0001t0002g0144 a0001c0001t0006g0240 a0004c0007t0008g0237 others(3): Show a0001c0001t0002g0144 a0001c0001t0006g0240 a0004c0007t0008g0237 a0004c0007t0008g0238 a0004c0007t0008g0239 a0008c0028t0008g0241	6	305	0.0197	-50	c.712 others(67): Show c.712-2594_712-2545delGGCGGCGATGTCAACAGCAGTGGGGCCG TCACAGGCGGGGCAGGGGCTGA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42670359	CACACACA others(43): Show CACACACACATTCACACACATTCACATTTACATTCACAAACATTCACACA T	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	322	0.0031	-50	c.70- others(67): Show c.70-15829_70-15780delCACACATTCACACACATTCACATTTACA TTCACAAACATTCACACATACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42670375	CACATTCA others(43): Show CACATTCACATTTACATTCACAAACATTCACACATACATTCACACGCACT T	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	314	0.0032	-50	c.70- others(67): Show c.70-15813_70-15764delTTCACATTTACATTCACAAACATTCACA CATACATTCACACGCACTTACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFRA_chr4_54224293_54303245	54276282	TGAGTAAT others(43): Show TGAGTAATAGCAGAATAGTAGAAATTCCCCCAGTTTCAGAGACACTGATT C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02809.hp1 others(7): Show HG02109.hp1 HG02559.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035	10	298	0.0336	-50	c.178 others(69): Show c.1787-1096_1787-1047delCAGAATAGTAGAAATTCCCCCAGTTT CAGAGACACTGATTCGAGTAATAG	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDHX_chr11_34911618_35001128	34995435	AAAGGGAA others(43): Show AAAGGGAATATTAAACTAGATGTAAATCAAAGTATATGTTTGGCTCATTT G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0191 a0001c0002t0014g0191	1	312	0.0032	-50	c.26 others(59): Show c.265_*314delAGGGAATATTAAACTAGATGTAAATCAAAGTATATG TTTGGCTCATTTGA	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	11/11	265	INFO_REALIGN_3_PRIME	chr11	TogoVar
PDXK_chr21_43714129_43767299	43731656	TGTTGTGG others(43): Show TGTTGTGGAGAGCCCAGCAGCCCGCTGGGCTGAACCTTGGACCAAGAACC A	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 NA18906.hp1 HG02055.hp1 HG02647.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0196 a0001c0001t0026g0031 a0001c0001t0026g0195 a0001c0001t0004g0196 a0001c0001t0026g0031 a0001c0001t0026g0195	3	356	0.0084	-50	c.88- others(65): Show c.88-2410_88-2361delTGTGGAGAGCCCAGCAGCCCGCTGGGCTGA ACCTTGGACCAAGAACCAGT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31849988	ATATACAC others(43): Show ATATACACATATATATATATACACACACACGTATATACTCATATATACAC G	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG02055.hp2 others(8): Show HG01358.hp1 HG01884.hp1 HG02055.hp2 HG02622.hp2 HG02717.hp2 HG03195.hp2 HG06807.hp1 NA18522.hp1 NA18953.hp2 NA19085.hp2 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0036	a0001c0001 a0001c0007 a0001c0062 others(5): Show a0001c0001 a0001c0007 a0001c0062 a0002c0002 a0002c0003 a0004c0006 a0006c0016 a0036c0030	a0001c0001t0001 a0001c0001t0008 a0001c0007t0009 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0009 a0001c0062t0003 a0002c0002t0018 a0002c0003t0002 a0004c0006t0007 a0006c0016t0001 a0036c0030t0033	a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0120 others(8): Show a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0008g0065 a0001c0007t0009g0057 a0001c0062t0003g0024 a0002c0002t0018g0042 a0002c0003t0002g0056 a0004c0006t0007g0201 a0006c0016t0001g0100 a0036c0030t0033g0103	11	214	0.0514	-50	c.476 others(69): Show c.476+50269_476+50318delCACATATATATATATACACACACACG TATATACTCATATATACACGTATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017863	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0101 a0004c0004t0011g0101	1	429	0.0023	-50	c.152 others(67): Show c.1522+186_1522+235delTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PEAK1_chr15_77103158_77425104	77300542	ACACCCAG others(43): Show ACACCCAGTTTCTCCAATTACGAACATTTTACATTAGTATGATACCTTTG T	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0177 a0003c0003t0013g0177	1	324	0.0031	-50	c.-60 others(71): Show c.-602-14088_-602-14039delACAAAGGTATCATACTAATGTAAA ATGTTCGTAATTGGAGAAACTGGGTG	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911154	TTTTCTTT others(43): Show TTTTCTTTCTTTCTTTCCTTTCTTTTCTTTCTTCTTTCTTTCTTTCTTTT C	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0021 a0021	a0021c0055 a0021c0055	a0021c0055t0001 a0021c0055t0001	a0021c0055t0001g0112 a0021c0055t0001g0112	1	382	0.0026	-50	c.195 others(67): Show c.1951+436_1951+485delTCTTTCTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCCTTTCTTT	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEMT_chr17_17500563_17596708	17586197	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0015 a0005c0006t0001g0016	2	339	0.0059	-50	c.96+ others(65): Show c.96+5284_96+5333delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCTTTCTTTC	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(43): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG02976.hp2 others(1): Show HG02258.hp2 HG02965.hp1 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0028 a0001c0002t0035 a0001c0001t0027 a0001c0001t0028 a0001c0002t0035	a0001c0001t0027g0035 a0001c0001t0027g0036 a0001c0001t0028g0037 others(1): Show a0001c0001t0027g0035 a0001c0001t0027g0036 a0001c0001t0028g0037 a0001c0002t0035g0201	4	321	0.0125	-50	c.77- others(65): Show c.77-2763_77-2714delATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210860	ATGTTAGC others(43): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19088.hp1 NA18939.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0025 a0001c0001t0001 a0001c0003t0025	a0001c0001t0001g0075 a0001c0003t0025g0094 a0001c0001t0001g0075 a0001c0003t0025g0094	2	419	0.0048	-50	c.77- others(65): Show c.77-2740_77-2691delAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATAGTCTTGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59819744	TTGGGCCG others(43): Show TTGGGCCGGTGCTGTCCCGGTACTGGCCACCCGTCAGCTGAGGCACCTGG C	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	248	0.0040	-50	c.132 others(71): Show c.1328+13582_1328+13631delGTCAGCTGAGGCACCTGGCTGGGC CGGTGCTGTCCCGGTACTGGCCACCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21B_chr22_44876162_45015005	44889982	TACCCCAG others(43): Show TACCCCAGGGCATGATGGGAATATCACAAGGCCCCCATGACACCTGGGCT C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(92): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG03516.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037 a0001c0001t0043 a0001c0001t0047 a0001c0006t0017 a0002c0003t0011 a0002c0003t0017 a0005c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 others(92): Show a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0002g0121 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0039 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0261 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0008g0024 a0001c0001t0010g0044 a0001c0001t0010g0204 a0001c0001t0010g0205 a0001c0001t0010g0207 a0001c0001t0010g0252 a0001c0001t0019g0132 a0001c0001t0019g0134 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0024g0286 a0001c0001t0031g0163 a0001c0001t0037g0066 a0001c0001t0043g0272 a0001c0001t0047g0300 a0001c0006t0017g0025 a0002c0003t0011g0036 a0002c0003t0011g0238 a0002c0003t0011g0240 a0002c0003t0011g0248 a0002c0003t0017g0007 a0005c0010t0001g0076	95	298	0.3188	-50	c.101 others(67): Show c.1016-250_1016-201delGAGCCCAGGTGTCATGGGGGCCTTGTGA TATTCCCATCATGCCCTGGGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	8/12			chr22	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(43): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG03041.hp1 HG03471.hp2 others(3): Show HG02074.hp1 HG03041.hp1 HG03471.hp2 HG04228.hp2 NA19006.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0009 a0001c0003t0003	a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0002t0005g0077 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0002t0005g0077 a0001c0002t0009g0204 a0001c0003t0003g0101 a0001c0003t0003g0102	6	149	0.0403	-50	c.51 others(61): Show c.5139_*5188delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PID1_chr2_229018973_229276287	229139031	GAAAGAAA others(43): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	245	0.0041	-50	c.177 others(69): Show c.177+16737_177+16786delTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCTCTTTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229139065	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	253	0.0040	-50	c.177 others(69): Show c.177+16703_177+16752delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10720391	GTGTGTGT others(43): Show GTGTGTGTGTGTGTATGTGTATGTGTATGTATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18941.hp2 NA18994.hp2 HG00438.hp1 NA18941.hp2 NA18994.hp2	a0003 a0004 a0016 a0003 a0004 a0016	a0003c0012 a0004c0022 a0016c0027 a0003c0012 a0004c0022 a0016c0027	a0003c0012t0001 a0004c0022t0002 a0016c0027t0002 a0003c0012t0001 a0004c0022t0002 a0016c0027t0002	a0003c0012t0001g0053 a0004c0022t0002g0042 a0016c0027t0002g0013 a0003c0012t0001g0053 a0004c0022t0002g0042 a0016c0027t0002g0013	3	142	0.0211	-50	c.503 others(69): Show c.5030-2182_5030-2133delTATATATATATATATATATATACATA CACATACACATACACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720393	GTGTGTGT others(43): Show GTGTGTGTGTGTATGTGTATGTGTATGTATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0004 a0004	a0004c0049 a0004c0049	a0004c0049t0002 a0004c0049t0002	a0004c0049t0002g0102 a0004c0049t0002g0102	1	155	0.0065	-50	c.503 others(69): Show c.5030-2184_5030-2135delTATATATATATATATATATATATACA TACACATACACATACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIGQ_chr16_564968_589109	578024	AGGCCTCA others(43): Show AGGCCTCAGTGCGTCCACGTGTTTGGGGCCGAGGGCTCCAGTGGGTCCTG T	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0288	1	406	0.0025	-50	c.943 others(65): Show c.943-350_943-301delTCAGTGCGTCCACGTGTTTGGGGCCGAGGG CTCCAGTGGGTCCTGTGGCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGU_chr20_34555542_34682092	34631722	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	292	0.0034	-50	c.529 others(67): Show c.529+2843_529+2892delATATATATATATATATATATATATATAT ATATATATATATATATATATAT	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631737	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	318	0.0031	-50	c.529 others(67): Show c.529+2828_529+2877delAATATATATATATATATATATATATATA TATATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIK3C2A_chr11_17081575_17212986	17181615	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATACACA C	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	339	0.0029	-50	c.-65 others(69): Show c.-65-11859_-65-11810delGTGTGTATATATATATATATATATAT ATATATATATATATATATATATAT	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(43): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02602.hp1 HG01070.hp1 HG01071.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0023 a0001c0001t0001g0181 a0001c0001t0001g0197	3	74	0.0405	-50	c.-84 others(67): Show c.-84-1222_-84-1173delCATGTGAGAATACCAATGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2G_chr12_18256518_18653416	18650700	GTGTGTAT others(43): Show GTGTGTATATATCTATATATATATATATATATATATATATATATATATAT A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01433.hp1 others(12): Show HG00544.hp2 HG01069.hp1 HG01433.hp1 HG01517.hp1 HG02486.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03540.hp1 NA18984.hp2 NA19043.hp1 NA19084.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0031 a0002c0005 others(8): Show a0001c0001 a0001c0031 a0002c0005 a0002c0018 a0003c0003 a0003c0020 a0003c0035 a0004c0006 a0004c0034 a0005c0011 a0006c0007	a0001c0001t0002 a0001c0031t0001 a0002c0005t0002 others(8): Show a0001c0001t0002 a0001c0031t0001 a0002c0005t0002 a0002c0018t0001 a0003c0003t0002 a0003c0020t0001 a0003c0035t0002 a0004c0006t0001 a0004c0034t0001 a0005c0011t0001 a0006c0007t0002	a0001c0001t0002g0063 a0001c0031t0001g0059 a0002c0005t0002g0009 others(12): Show a0001c0001t0002g0063 a0001c0031t0001g0059 a0002c0005t0002g0009 a0002c0005t0002g0050 a0002c0005t0002g0104 a0002c0018t0001g0108 a0003c0003t0002g0054 a0003c0020t0001g0051 a0003c0035t0002g0165 a0004c0006t0001g0144 a0004c0034t0001g0140 a0005c0011t0001g0042 a0005c0011t0001g0047 a0005c0011t0001g0048 a0006c0007t0002g0004	15	170	0.0882	-50	c.26 others(61): Show c.2673_*2722delTGTGTATATATCTATATATATATATATATATATA TATATATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2285		chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18650702	GTGTATAT others(43): Show GTGTATATATCTATATATATATATATATATATATATATATATATATATAT A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02895.hp2 others(2): Show HG02109.hp2 HG02630.hp1 HG02895.hp2 HG02976.hp1 NA18906.hp2	a0004 a0005 a0008 a0004 a0005 a0008	a0004c0006 a0004c0015 a0005c0011 others(1): Show a0004c0006 a0004c0015 a0005c0011 a0008c0051	a0004c0006t0002 a0004c0015t0001 a0005c0011t0002 others(1): Show a0004c0006t0002 a0004c0015t0001 a0005c0011t0002 a0008c0051t0001	a0004c0006t0002g0013 a0004c0006t0002g0014 a0004c0015t0001g0150 others(2): Show a0004c0006t0002g0013 a0004c0006t0002g0014 a0004c0015t0001g0150 a0005c0011t0002g0044 a0008c0051t0001g0049	5	157	0.0318	-50	c.26 others(61): Show c.2675_*2724delTGTATATATCTATATATATATATATATATATATA TATATATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2287		chr12	TogoVar
PIK3C3_chr18_41950234_42092830	42054126	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02965.hp1 others(4): Show HG02451.hp1 HG02922.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0034 a0001c0001t0014 a0001c0001t0033 a0001c0001t0034	a0001c0001t0014g0001 a0001c0001t0014g0007 a0001c0001t0014g0008 others(3): Show a0001c0001t0014g0001 a0001c0001t0014g0007 a0001c0001t0014g0008 a0001c0001t0014g0011 a0001c0001t0033g0009 a0001c0001t0034g0010	7	59	0.1186	-50	c.226 others(69): Show c.2264-3740_2264-3691delTATATATATATATATATATATATATA TATATATATATATATATATATATA	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42076097	TATATATA others(43): Show TATATATATATATATATATATATATGCGCATATATATATATATATATGCG C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03516.hp1 NA18906.hp2 HG03041.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0045 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0045	3	338	0.0089	-50	c.265 others(69): Show c.2650-5011_2650-4962delATATATATATGCGCATATATATATAT ATATATGCGCATATATATATATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIN4_chrX_72176757_72203340	72178796	CGTCCGGG others(43): Show CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	305	0.0033	-50	c.-29 others(61): Show c.-2989_-2940delGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCA	PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding		2960		chrX	TogoVar
PIP4K2A_chr10_22529854_22719578	22664102	TACATATA others(43): Show TACATATATATATACATATATATATATACATATATATATACATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0066 a0001c0005t0005g0066	1	203	0.0049	-50	c.144 others(69): Show c.144+50031_144+50080delGTATATATATGTATATATATATGTAT ATATATATATGTATATATATATGT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3643703	GCTTGGCC others(43): Show GCTTGGCCACACGGGCTCCTTGCTGTTCCCTCAGCAGGTGTGGTCCTGCC C	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	330	0.0030	-50	c.151 others(67): Show c.1510+334_1511-323delGGGCAGGACCACACCTGCTGAGGGAACA GCAAGGAGCCCGTGTGGCCAAG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	12/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649038	GGGGAGTT others(43): Show GGGGAGTTAATTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCG C	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	328	0.0030	-50	c.112 others(67): Show c.1128-380_1128-331delGCGCTGGGCAGGGGACGTGTGGGCATGG TGCCGGGTGACAATTAACTCCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	TTGTCACC others(43): Show TTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(20): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG01071.hp1 HG01123.hp1 HG01261.hp1 HG02273.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 NA18952.hp2 NA18960.hp2 NA18994.hp2 NA20905.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0002 a0001c0026 a0004c0014 others(1): Show a0001c0002 a0001c0026 a0004c0014 a0009c0016	a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 others(6): Show a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0025 a0001c0002t0041 a0001c0002t0043 a0001c0026t0005 a0004c0014t0005 a0009c0016t0005	a0001c0002t0005g0002 a0001c0002t0005g0027 a0001c0002t0005g0034 others(19): Show a0001c0002t0005g0002 a0001c0002t0005g0027 a0001c0002t0005g0034 a0001c0002t0005g0078 a0001c0002t0005g0081 a0001c0002t0005g0093 a0001c0002t0005g0099 a0001c0002t0005g0144 a0001c0002t0005g0222 a0001c0002t0011g0033 a0001c0002t0011g0096 a0001c0002t0011g0107 a0001c0002t0014g0028 a0001c0002t0014g0076 a0001c0002t0014g0077 a0001c0002t0025g0217 a0001c0002t0025g0234 a0001c0002t0041g0275 a0001c0002t0043g0128 a0001c0026t0005g0324 a0004c0014t0005g0193 a0009c0016t0005g0094	23	189	0.1217	-50	c.112 others(67): Show c.1128-390_1128-341delGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649463	GTGCCCAC others(43): Show GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01433.hp2 HG02523.hp2 others(15): Show HG00323.hp2 HG01433.hp2 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp2 HG03098.hp2 HG03704.hp1 HG04199.hp2 NA18951.hp2 NA18960.hp2 NA18961.hp1 NA18989.hp1 NA18998.hp1 NA19009.hp2 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0020 a0001c0002t0041	a0001c0001t0002g0026 a0001c0001t0005g0061 a0001c0001t0005g0062 others(15): Show a0001c0001t0002g0026 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0231 a0001c0001t0013g0320 a0001c0002t0003g0162 a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0185 a0001c0002t0005g0189 a0001c0002t0005g0269 a0001c0002t0005g0272 a0001c0002t0005g0274 a0001c0002t0006g0150 a0001c0002t0020g0252 a0001c0002t0041g0275	18	312	0.0577	-50	c.112 others(67): Show c.1128-805_1128-756delTGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649513	ATGCCCAC others(43): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0095 a0001c0002t0011g0095	1	48	0.0208	-50	c.112 others(67): Show c.1128-854_1128-805delGGTGCCGGGTGACAGTTAACTCCCGCGC TGGGCAGGGGACGTGTGGGCAT	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6560588	TTCCTTCT others(43): Show TTCCTTCTCCTTCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCGTAGTCCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0019 a0001c0002t0057g0019	1	212	0.0047	-50	c.-42 others(61): Show c.-4232_-4183delGAGGACTACGAGGAAGAGGAGAAGGAGGAGGAAG AGGAGAAGGAGAAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4034		chr17	TogoVar
PJA2_chr5_109329722_109414974	109342098	TGGGGATG others(43): Show TGGGGATGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0088 a0003c0003t0002g0088	1	343	0.0029	-50	c.200 others(69): Show c.2001+2042_2001+2091delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar

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