Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
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	a0001c0001t0001g0073 a0001c0003t0025g0090 a0001c0001t0001g0073 a0001c0003t0025g0090	2	432	0.0046	-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	250	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(93): 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 homoSapiens_chm13v2.hp1	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 a0001c0001t0001g0039 a0001c0001t0001g0040 others(93): Show a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0002g0117 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0201 a0001c0001t0003g0208 a0001c0001t0003g0261 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0008g0024 a0001c0001t0010g0044 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0206 a0001c0001t0010g0252 a0001c0001t0019g0128 a0001c0001t0019g0130 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0024g0286 a0001c0001t0031g0158 a0001c0001t0037g0066 a0001c0001t0043g0272 a0001c0001t0047g0300 a0001c0006t0017g0025 a0002c0003t0011g0035 a0002c0003t0011g0237 a0002c0003t0011g0239 a0002c0003t0011g0247 a0002c0003t0017g0007 a0005c0010t0001g0041 a0005c0010t0001g0076	96	300	0.3200	-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	a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0002t0005g0077 others(3): Show a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0002t0005g0077 a0001c0002t0009g0313 a0001c0003t0003g0085 a0001c0003t0003g0094	6	350	0.0171	-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	a0001c0001t0002g0179 a0001c0001t0002g0179	1	256	0.0039	-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	a0001c0001t0001g0094 a0001c0001t0001g0094	1	256	0.0039	-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 a0013 a0003 a0004 a0013	a0003c0012 a0004c0022 a0013c0027 a0003c0012 a0004c0022 a0013c0027	a0003c0012t0001 a0004c0022t0002 a0013c0027t0002 a0003c0012t0001 a0004c0022t0002 a0013c0027t0002	a0003c0012t0001g0053 a0004c0022t0002g0042 a0013c0027t0002g0017 a0003c0012t0001g0053 a0004c0022t0002g0042 a0013c0027t0002g0017	3	158	0.0190	-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	a0004c0049t0002g0101 a0004c0049t0002g0101	1	158	0.0063	-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	a0001c0002t0002g0298 a0001c0002t0002g0298	1	408	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	a0001c0001t0001g0250 a0001c0001t0001g0250	1	320	0.0031	-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	a0001c0001t0001g0277 a0001c0001t0001g0277	1	320	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	342	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	a0001c0001t0001g0021 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0021 a0001c0001t0001g0181 a0001c0001t0001g0197	3	302	0.0099	-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 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0031 a0002c0003 others(8): Show a0001c0001 a0001c0031 a0002c0003 a0002c0020 a0002c0035 a0004c0005 a0005c0006 a0005c0034 a0006c0011 a0007c0007 a0011c0018	a0001c0001t0002 a0001c0031t0001 a0002c0003t0002 others(8): Show a0001c0001t0002 a0001c0031t0001 a0002c0003t0002 a0002c0020t0001 a0002c0035t0002 a0004c0005t0002 a0005c0006t0001 a0005c0034t0001 a0006c0011t0001 a0007c0007t0002 a0011c0018t0001	a0001c0001t0002g0063 a0001c0031t0001g0059 a0002c0003t0002g0054 others(12): Show a0001c0001t0002g0063 a0001c0031t0001g0059 a0002c0003t0002g0054 a0002c0020t0001g0051 a0002c0035t0002g0165 a0004c0005t0002g0009 a0004c0005t0002g0050 a0004c0005t0002g0104 a0005c0006t0001g0144 a0005c0034t0001g0140 a0006c0011t0001g0043 a0006c0011t0001g0047 a0006c0011t0001g0048 a0007c0007t0002g0004 a0011c0018t0001g0108	15	176	0.0852	-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	a0005 a0006 a0008 a0005 a0006 a0008	a0005c0006 a0005c0015 a0006c0011 others(1): Show a0005c0006 a0005c0015 a0006c0011 a0008c0051	a0005c0006t0002 a0005c0015t0001 a0006c0011t0002 others(1): Show a0005c0006t0002 a0005c0015t0001 a0006c0011t0002 a0008c0051t0001	a0005c0006t0002g0013 a0005c0006t0002g0014 a0005c0015t0001g0150 others(2): Show a0005c0006t0002g0013 a0005c0006t0002g0014 a0005c0015t0001g0150 a0006c0011t0002g0045 a0008c0051t0001g0049	5	176	0.0284	-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 a0001c0001t0014g0004 a0001c0001t0014g0005 others(3): Show a0001c0001t0014g0001 a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0014g0008 a0001c0001t0033g0006 a0001c0001t0034g0007	7	340	0.0206	-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	a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0043 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0043	3	340	0.0088	-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	307	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	a0001c0005t0005g0070 a0001c0005t0005g0070	1	206	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	a0001c0001t0002g0132 a0001c0001t0002g0132	1	332	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	332	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 a0008 a0010 a0001 a0008 a0010	a0001c0002 a0001c0026 a0008c0016 others(1): Show a0001c0002 a0001c0026 a0008c0016 a0010c0014	a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 others(6): Show a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0025 a0001c0002t0041 a0001c0002t0043 a0001c0026t0005 a0008c0016t0005 a0010c0014t0005	a0001c0002t0005g0002 a0001c0002t0005g0027 a0001c0002t0005g0034 others(19): Show a0001c0002t0005g0002 a0001c0002t0005g0027 a0001c0002t0005g0034 a0001c0002t0005g0076 a0001c0002t0005g0078 a0001c0002t0005g0089 a0001c0002t0005g0094 a0001c0002t0005g0144 a0001c0002t0005g0222 a0001c0002t0011g0033 a0001c0002t0011g0091 a0001c0002t0011g0103 a0001c0002t0014g0028 a0001c0002t0014g0074 a0001c0002t0014g0075 a0001c0002t0025g0217 a0001c0002t0025g0237 a0001c0002t0041g0275 a0001c0002t0043g0123 a0001c0026t0005g0324 a0008c0016t0005g0090 a0010c0014t0005g0193	23	332	0.0693	-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 a0001c0001t0005g0063 a0001c0001t0005g0064 others(15): Show a0001c0001t0002g0026 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0231 a0001c0001t0013g0320 a0001c0002t0003g0145 a0001c0002t0005g0072 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0002t0005g0095 a0001c0002t0005g0185 a0001c0002t0005g0189 a0001c0002t0005g0269 a0001c0002t0005g0272 a0001c0002t0005g0274 a0001c0002t0006g0151 a0001c0002t0020g0253 a0001c0002t0041g0275	18	332	0.0542	-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	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0092 a0001c0002t0011g0092	1	332	0.0030	-50	c.112 others(67): Show c.1128-855_1128-806delCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	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	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0018 a0001c0002t0070g0018	1	218	0.0046	-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	a0003c0003t0002g0085 a0003c0003t0002g0085	1	346	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
PKD1_chr16_2083708_2140898	2091243	GCTGCCGG others(43): Show GCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGC C	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02735.hp2 NA20752.hp1 HG01346.hp2 HG02735.hp2 NA20752.hp1	a0003 a0012 a0003 a0012	a0003c0042 a0012c0106 a0012c0120 a0003c0042 a0012c0106 a0012c0120	a0003c0042t0012 a0012c0106t0012 a0012c0120t0014 a0003c0042t0012 a0012c0106t0012 a0012c0120t0014	a0003c0042t0012g0203 a0012c0106t0012g0205 a0012c0120t0014g0202 a0003c0042t0012g0203 a0012c0106t0012g0205 a0012c0120t0014g0202	3	216	0.0139	-50	c.117 others(68): Show c.11713-119_11713-70delGGCCCCGCCCCGGCAGCGTCCCGCCCC CTCGTAGGGCCCCGCCCCGGCAG	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314989	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAA G	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	306	0.0033	-50	c.349 others(69): Show c.349+14172_349+14221delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP2_chr12_32785755_32901777	32803983	ACAGTTAA others(43): Show ACAGTTAAAAATATGATATGCCATTAATACAGTTAAAAAAAATAATGTGT T	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0003 a0002c0019t0003	a0002c0019t0003g0215 a0002c0019t0003g0215	1	342	0.0029	-50	c.201 others(69): Show c.2014-1477_2014-1428delAACACATTATTTTTTTTAACTGTATT AATGGCATATCATATTTTTAACTG	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	9/12			chr12	TogoVar
PKP2_chr12_32785755_32901777	32858085	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATTTATATATATTTTATATT T	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02965.hp2 HG03098.hp2 others(1): Show HG00741.hp2 HG02965.hp2 HG03098.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015	a0002c0002t0002g0237 a0002c0002t0005g0234 a0002c0002t0005g0318 others(1): Show a0002c0002t0002g0237 a0002c0002t0005g0234 a0002c0002t0005g0318 a0002c0002t0015g0236	4	342	0.0117	-50	c.117 others(69): Show c.1171-7162_1171-7113delAAATATAAAATATATATAAATATATA TATATATATATATATATATATATA	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PLCB1_chr20_8127266_8889900	8821486	AAAAAAAA others(43): Show AAAAAAAAAAAATATGTATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03041.hp1 others(1): Show HG02615.hp2 HG02622.hp2 HG03041.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0025 a0001c0002 a0001c0006 a0002c0025	a0001c0002t0001 a0001c0002t0003 a0001c0006t0002 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0006t0002 a0002c0025t0001	a0001c0002t0001g0031 a0001c0002t0003g0079 a0001c0006t0002g0049 others(1): Show a0001c0002t0001g0031 a0001c0002t0003g0079 a0001c0006t0002g0049 a0002c0025t0001g0044	4	106	0.0377	-50	c.342 others(71): Show c.3423+31227_3423+31276delAAAAAAAAAATATGTATATATATA TATATATATATATATATATATATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCH1_chr3_155474881_155750071	155566300	CACATATA others(43): Show CACATATATATACATATATACATATATATACGTATATATACACATATATA T	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0028 a0001c0002t0001g0029	2	264	0.0076	-50	c.866 others(67): Show c.866-1232_866-1183delATATATATGTGTATATATACGTATATAT ATGTATATATGTATATATATGT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	7/22			chr3	TogoVar
PLCXD3_chr5_41301952_41515601	41471803	TTCCCCTC others(43): Show TTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0193 a0001c0002t0005g0193	1	244	0.0041	-50	c.103 others(69): Show c.103+38571_103+38620delGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGACGGGAGGGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41471848	CTCCCCTC others(43): Show CTCCCCTCCCTTCCCTTCCCTTCCCTTCCCCTCCCTTCCCCTCCCCTCCC T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0239 a0001c0001t0036g0239	1	244	0.0041	-50	c.103 others(69): Show c.103+38526_103+38575delAGGGAGGGGAGGGGAAGGGAGGGGAA GGGAAGGGAAGGGAAGGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLD1_chr3_171595404_171815483	171764874	AGAAAGAA others(43): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0088 a0001c0005t0010g0088	1	294	0.0034	-50	c.-31 others(69): Show c.-31-26842_-31-26793delCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTTTC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764899	GGAAGGAA others(43): Show GGAAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAA A	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0288 a0002c0003t0003g0288	1	294	0.0034	-50	c.-31 others(69): Show c.-31-26867_-31-26818delTTTCTTTCTTTCTTTCCTTTCTTTCC TTTCTTTCTTTCCTTCCTTCCTTC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242394611	CATATATA others(43): Show CATATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACA T	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	188	0.0053	-50	c.190 others(69): Show c.190-46419_190-46370delATGTTCACATATATACACATATATAT GTTCACATATATACACATATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHH2_chr2_43632260_43772987	43677904	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGAC G	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0197 a0001c0003t0001g0197	1	256	0.0039	-50	c.124 others(65): Show c.124-955_124-906delGCGGCTGGCCGGGCGGGGGGCTGATCCCCC CACCTCCCTCCCAGACGGGG	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5441985	CACACGTA others(43): Show CACACGTATATACATGTGTGTATATACATGTGTGTATATACACACGTATA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03831.hp1 HG02602.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	414	0.0048	-50	c.-43 others(61): Show c.-4379_-4330delATATACGTGTGTATATACACACATGTATATACAC ACATGTATATACGTGT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding		4061		chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5442003	TGTATATA others(43): Show TGTATATACATGTGTGTATATACACACGTATATACGTGTGTATATACACA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18972.hp2 NA18970.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0293 a0001c0001t0001g0163 a0001c0001t0001g0293	2	414	0.0048	-50	c.-43 others(61): Show c.-4397_-4348delGTGTGTATATACACACGTATATACGTGTGTATAT ACACACATGTATATAC	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding		4079		chr9	TogoVar
PLPPR3_chr19_807488_826955	816572	CCCAGCCA others(43): Show CCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACCCATTCATCA T	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	398	0.0050	-50	c.76- others(63): Show c.76-771_76-722delATGATGAATGGGTGGATGATGGATGGATGGAT AGATGAATGAATGGCTGG	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	2/7			chr19	TogoVar
PLSCR4_chr3_146187335_146256105	146224821	TACAAAGG others(43): Show TACAAAGGTTCTCCACGTCCCCATCAGATTAGTTAGATACAGAGTATGGA C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(76): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02135.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18982.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19063.hp2 NA19065.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0008 a0003c0003 a0002c0002 a0002c0008 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0015 a0002c0002t0029 a0002c0002t0031 a0002c0008t0002 a0003c0003t0001	a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0038 others(57): Show a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0134 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0265 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0037 a0002c0002t0002g0136 a0002c0002t0002g0249 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0276 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0294 a0002c0002t0002g0298 a0002c0002t0003g0278 a0002c0002t0003g0296 a0002c0002t0004g0002 a0002c0002t0004g0035 a0002c0002t0004g0039 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0258 a0002c0002t0004g0263 a0002c0002t0004g0290 a0002c0002t0005g0041 a0002c0002t0005g0042 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0293 a0002c0002t0006g0295 a0002c0002t0007g0292 a0002c0002t0007g0297 a0002c0002t0008g0040 a0002c0002t0008g0043 a0002c0002t0008g0277 a0002c0002t0008g0282 a0002c0002t0008g0286 a0002c0002t0015g0264 a0002c0002t0029g0279 a0002c0002t0031g0275 a0002c0008t0002g0266 a0003c0003t0001g0300 a0003c0003t0001g0301	79	380	0.2079	-50	c.-21 others(67): Show c.-21-2779_-21-2730delGTCCATACTCTGTATCTAACTAATCTGA TGGGGACGTGGAGAACCTTTGT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding	1/8			chr3	TogoVar
PLXDC2_chr10_19811432_20294856	20126615	CACACACG others(43): Show CACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAT A	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02630.hp1 others(1): Show HG00642.hp1 HG01884.hp1 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0061 others(1): Show a0001c0001t0004 a0001c0001t0027 a0001c0001t0061 a0001c0001t0130	a0001c0001t0004g0107 a0001c0001t0027g0158 a0001c0001t0061g0030 others(1): Show a0001c0001t0004g0107 a0001c0001t0027g0158 a0001c0001t0061g0030 a0001c0001t0130g0156	4	180	0.0222	-50	c.542 others(69): Show c.542-16649_542-16600delACGTTATATATGTATATATAACACAC GTTATATATGTATATATAACACAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
POFUT2_chr21_45258935_45292895	45268871	GCACCCCG others(43): Show GCACCCCGGGCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG C	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	436	0.0023	-50	c.101 others(67): Show c.1012+918_1012+967delGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGCCCGGGGTG	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
POLG_chr15_89311320_89339824	89325061	TGAGTGAG others(43): Show TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAG A	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	398	0.0025	-50	c.194 others(67): Show c.1949+339_1949+388delTCTCTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325093	TGAGTGAG others(43): Show TGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG A	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0052 a0001c0011t0001g0052	1	398	0.0025	-50	c.194 others(67): Show c.1949+307_1949+356delTCTCACTCACTCTCTCACTCACTCACTC ACTCTCTCTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR3F_chr20_18462390_18489646	18486123	TATAAATA others(43): Show TATAAATATATATAAAAATATATATGTAAATATAAATATATATATATGTA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03490.hp2 HG03471.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0119 a0001c0002t0009g0043 a0001c0001t0001g0119 a0001c0002t0009g0043	2	452	0.0044	-50	c.25 others(61): Show c.2566_*2615delATAAATATATATAAAAATATATATGTAAATATAA ATATATATATATGTAA	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1478		chr20	TogoVar
POR_chr7_75910155_75991855	75988695	GGGTGGAG others(43): Show GGGTGGAGGGGTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18980.hp2 HG02040.hp1 NA18980.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0153 a0002c0001t0002g0156 a0002c0001t0002g0153 a0002c0001t0002g0156	2	278	0.0072	-50	c.22 others(61): Show c.2215_*2264delGGTGGAGGGGTGGAGGGGAAGGCCGGGTGGGGGG CTGGAGGGGAAGGCCA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1841		chr7	TogoVar
POR_chr7_75910155_75991855	75988740	AGGCCAGG others(43): Show AGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTGGAGG G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02300.hp2 NA18977.hp1 others(1): Show HG02273.hp2 HG02300.hp2 NA18977.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0137 others(1): Show a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0199	4	278	0.0144	-50	c.22 others(61): Show c.2260_*2309delGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGG GTGGGGGGCTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1886		chr7	TogoVar
POR_chr7_75910155_75991855	75988855	GGTGTGGA others(43): Show GGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00621.hp1 others(51): Show HG00323.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG03017.hp2 HG03041.hp1 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp2 NA19060.hp1 NA19070.hp2 NA19079.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0024 a0001c0025	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0001c0024t0001 a0001c0025t0001	a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0059 others(51): Show a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0080 a0001c0002t0001g0090 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0246 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0005t0001g0036 a0001c0005t0001g0254 a0001c0005t0001g0256 a0001c0005t0001g0266 a0001c0005t0001g0267 a0001c0009t0001g0003 a0001c0009t0001g0004 a0001c0009t0001g0005 a0001c0009t0001g0006 a0001c0024t0001g0234 a0001c0025t0001g0011	54	278	0.1942	-50	c.23 others(61): Show c.2375_*2424delGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGG GGAAGGCCGGGTGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2001		chr7	TogoVar

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