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	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
OR2AG1_chr11_6778020_6796558	6779192	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18985.hp2 NA18998.hp2 others(1): Show NA18957.hp2 NA18985.hp2 NA18998.hp2 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0002 a0002c0002t0005g0002	4	468	0.0086	-35	c.-42 others(46): Show c.-4299_-4265delTATATATATATATATATATATATATATTTTTTTT T		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3827		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779194	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03654.hp1 NA18972.hp2 others(7): Show HG02683.hp1 HG03654.hp1 NA18972.hp2 NA18986.hp2 NA18993.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0002t0019	a0002c0002t0002g0002 a0002c0002t0005g0002 a0002c0002t0010g0002 others(1): Show a0002c0002t0002g0002 a0002c0002t0005g0002 a0002c0002t0010g0002 a0002c0002t0019g0002	10	468	0.0214	-35	c.-42 others(46): Show c.-4297_-4263delTATATATATATATATATATATATATTTTTTTTTT T		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3825		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779196	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18954.hp1 NA18986.hp1 others(1): Show NA18949.hp2 NA18954.hp1 NA18986.hp1 NA19075.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0009 a0002c0002 a0013c0009	a0002c0002t0002 a0002c0002t0005 a0013c0009t0002 a0002c0002t0002 a0002c0002t0005 a0013c0009t0002	a0002c0002t0002g0002 a0002c0002t0005g0002 a0013c0009t0002g0002 a0002c0002t0002g0002 a0002c0002t0005g0002 a0013c0009t0002g0002	4	468	0.0086	-35	c.-42 others(46): Show c.-4295_-4261delTATATATATATATATATATATATTTTTTTTTTTT T		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3823		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779198	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01261.hp1 HG01361.hp1 others(7): Show HG00323.hp1 HG01261.hp1 HG01361.hp1 HG03834.hp1 NA18939.hp2 NA18981.hp2 NA18984.hp1 NA18989.hp2 NA19007.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	10	468	0.0214	-35	c.-42 others(46): Show c.-4293_-4259delTATATATATATATATATATATTTTTTTTTTTTTT T		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3821		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779200	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03927.hp1 HG01256.hp2 HG01258.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0030 a0001c0001t0001 a0002c0002t0030	a0001c0001t0001g0003 a0002c0002t0030g0002 a0001c0001t0001g0003 a0002c0002t0030g0002	3	468	0.0064	-35	c.-42 others(46): Show c.-4291_-4257delTATATATATATATATATATTTTTTTTTTTTTTTT T		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3819		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779202	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02293.hp1 HG01952.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0003 a0001c0001t0013g0001 a0001c0001t0001g0003 a0001c0001t0013g0001	2	468	0.0043	-35	c.-42 others(46): Show c.-4289_-4255delTATATATATATATATATTTTTTTTTTTTTTTTTT T		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3817		chr11	TogoVar
OR2J1_chr6_29094490_29107701	29100311	TTGCTTAT others(28): Show TTGCTTATATTGTGAATTTTTATAAGTTGGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	445	0.0023	-35	c.-18 others(52): Show c.-183-446_-183-412delCTTATATTGTGAATTTTTATAAGTTGGT GTGTGTG		OR2J1	ENSG00000204702.6	transcript	ENST00000641659.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
OR4S2_chr11_55643327_55657854	55644615	TAAGATAC others(28): Show TAAGATACAGCAATTATACCACTTGGTATTTACCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	228	0.0044	-35	c.-39 others(46): Show c.-3971_-3937delAAGATACAGCAATTATACCACTTGGTATTTACCC A		OR4S2	ENSG00000174982.4	transcript	ENST00000641692.1	protein_coding					3711		chr11	TogoVar
OR51B2_chr11_5318359_5329297	5328315	ATCTGTGC others(28): Show ATCTGTGCTGTAGGATATCCCACCTCAGCTGTGATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	462	0.0022	-35	c.-40 others(46): Show c.-4053_-4019delGATCACAGCTGAGGTGGGATATCCTACAGCACAG A		OR51B2	ENSG00000279012.2	transcript	ENST00000624187.1	protein_coding					4019		chr11	TogoVar
OR51M1_chr11_5378812_5398263	5379802	ACTTTCCC others(28): Show ACTTTCCCATGAGTCTGGCTTTCTGGGTTTCTCTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	450	0.0022	-35	c.-42 others(46): Show c.-4236_-4202delCTTTCCCATGAGTCTGGCTTTCTGGGTTTCTCTC C		OR51M1	ENSG00000184698.5	transcript	ENST00000642046.1	protein_coding					4009		chr11	TogoVar
OR52H1_chr11_5539561_5553540	5544626	AAACCATG others(28): Show AAACCATGGGGTTGAGTGCAGGTGGGATAACAATGT	A A	frameshift_variant frameshift_variant	HIGH	NA19010.hp1 NA19010.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0061 a0015c0018t0001g0061	1	428	0.0023	-35	c.845 others(42): Show c.845_879delACATTGTTATCCCACCTGCACTCAACCCCATGGTT	p.Tyr others(5): Show p.Tyr282fs	OR52H1	ENSG00000181616.10	transcript	ENST00000322653.7	protein_coding	2/2	998/1064	845/945	282/314			chr11	TogoVar
OR52K1_chr11_4477646_4498497	4498174	ATGGTGTA others(28): Show ATGGTGTAAGGAAGGGATCCAGGAGTAATCTTCTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	404	0.0025	-35	c.83 others(46): Show c.8330_*8364delTGGTGTAAGGAAGGGATCCAGGAGTAATCTTCTG C		OR52K1	ENSG00000196778.4	transcript	ENST00000641528.1	protein_coding					4678		chr11	TogoVar
OR5K1_chr3_98458201_98477924	98459681	GGCAGTTT others(28): Show GGCAGTTTAATGGGAATAGCATTGAATCTATAAATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	-35	c.-36 others(46): Show c.-3637_-3603delGCAGTTTAATGGGAATAGCATTGAATCTATAAAT T		OR5K1	ENSG00000232382.2	transcript	ENST00000642057.1	protein_coding					3519		chr3	TogoVar
OR5V1_chr6_29348749_29373865	29371353	CAAAAAAG others(28): Show CAAAAAAGAAATAGATAGGGTAGAGACAAAAAGGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01255.hp2 others(21): Show HG00735.hp1 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01884.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18948.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0006t0004 a0003c0003t0004 a0001c0001t0001 a0001c0006t0004 a0003c0003t0004	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0006t0004g0021 a0001c0006t0004g0041 a0003c0003t0004g0009 a0003c0003t0004g0037 a0003c0003t0004g0091 a0003c0003t0004g0092 a0003c0003t0004g0116 a0003c0003t0004g0122 a0003c0003t0004g0123	24	427	0.0562	-35	c.-28 others(46): Show c.-2839_-2805delTTCCTTTTTGTCTCTACCCTATCTATTTCTTTTT T		OR5V1	ENSG00000243729.5	transcript	ENST00000641768.1	protein_coding					2489		chr6	TogoVar
OR6C3_chr12_55325746_55337636	55334823	ATCTCTAT others(28): Show ATCTCTATGAAGAATATATTGTATAGATATGTACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp2 others(13): Show HG01109.hp2 HG01884.hp1 HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	16	450	0.0356	-35	c.21 others(46): Show c.2188_*2222delTCTCTATGAAGAATATATTGTATAGATATGTACA T		OR6C3	ENSG00000205329.3	transcript	ENST00000641740.2	protein_coding					2188		chr12	TogoVar
OR7A10_chr19_14835466_14853922	14849356	CTCTTCTT others(28): Show CTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0242 a0004c0006t0004g0242	1	488	0.0021	-35	c.-90 others(44): Show c.-904_-870delAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGA		OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding					435		chr19	TogoVar
OR9Q1_chr11_58018881_58186616	58037681	ATATATAT others(28): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0177 a0001c0002t0005g0177	1	324	0.0031	-35	c.-93 others(54): Show c.-93+13579_-93+13613delATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTT		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
OSCAR_chr19_54089668_54105803	54105104	AAATTATA others(28): Show AAATTATATACCTGGCTCTTACCATCTGTCAGACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	443	0.0023	-35	c.-43 others(46): Show c.-4347_-4313delCTGTCTGACAGATGGTAAGAGCCAGGTATATAAT T		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding					4302		chr19	TogoVar
OSER1_chr20_44190939_44215771	44204469	TATGCTAC others(28): Show TATGCTACAAATATAATTTTACTCAAGGCAGAATAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18980.hp1 NA18983.hp1 HG02293.hp1 NA18980.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0094 a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0094	3	444	0.0068	-35	c.78- others(50): Show c.78-1430_78-1396delGTATTCTGCCTTGAGTAAAATTATATTTGT AGCAT		OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding	2/3						chr20	TogoVar
OTOF_chr2_26452203_26483124	26475093	CAGGACTT others(28): Show CAGGACTTGCTGGCACACCTCCAGGGCTCAGTCTGT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	330	0.0030	-35	c.885 others(50): Show c.885+231_885+265delACAGACTGAGCCCTGGAGGTGTGCCAGCAA GTCCT		OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	8/28						chr2	TogoVar
OXR1_chr8_106265190_106757694	106405167	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01167.hp2 others(14): Show HG00423.hp2 HG00609.hp2 HG01167.hp2 HG02071.hp2 HG02148.hp2 HG02300.hp2 HG02735.hp1 HG02896.hp1 NA18944.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA19058.hp2 NA19079.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0073 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0002t0001g0039 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0102 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0001g0138	17	172	0.0988	-35	c.23+ others(52): Show c.23+45532_23+45566delATATATATATATATATATATATATATAT ATATATA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16						chr8	TogoVar
P2RX4_chr12_121205129_121239106	121205640	CCCATTTT others(28): Show CCCATTTTACATTCCCACGAGTAAAAAGCAGCTGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02896.hp2 HG01884.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0217 a0001c0001t0001g0180 a0001c0001t0001g0217	2	388	0.0052	-35	c.-45 others(46): Show c.-4524_-4490delCCATTTTACATTCCCACGAGTAAAAAGCAGCTGG A		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding					4488		chr12	TogoVar
P2RY10_chrX_78940391_78968727	78965778	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	322	0.0031	-35	c.42 others(46): Show c.4239_*4273delTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTT T		P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding					2052		chrX	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(28): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	396	0.0025	-35	c.-18 others(56): Show c.-180+16053_-180+16087delGAAATGAAATAAAATAAAATAAAA TAAAATAAAAT		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368677	GTCATTTC others(28): Show GTCATTTCATTTTATTTCATTTCATTTCATTTCATT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18950.hp1 HG00609.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0207 a0001c0001t0001g0119 a0001c0001t0001g0207	2	396	0.0051	-35	c.-18 others(56): Show c.-180+15980_-180+16014delAATGAAATGAAATGAAATGAAATA AAATGAAATGA		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY8_chrX_1457581_1542185	1459184	CATCTATC others(28): Show CATCTATCCATTTATCCATCATCTATATATTAATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG02273.hp2 others(1): Show HG01123.hp2 HG01175.hp1 HG02273.hp2 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0008 a0002c0002t0004g0019 a0002c0002t0004g0024 others(1): Show a0002c0002t0004g0008 a0002c0002t0004g0019 a0002c0002t0004g0024 a0002c0002t0004g0035	4	114	0.0351	-35	c.62 others(46): Show c.6260_*6294delAAATTAATATATAGATGATGGATAAATGGATAGA T		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding					3396		chrX	TogoVar
P3H4_chr17_41796953_41816949	41799593	CGCAAGGC others(28): Show CGCAAGGCTGAGCCAGTGGCCTGGGCTAAAGGGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	404	0.0025	-35	c.33 others(46): Show c.3329_*3363delCAGCCCTTTAGCCCAGGCCACTGGCTCAGCCTTG C		P3H4	ENSG00000141696.13	transcript	ENST00000393928.6	protein_coding					2359		chr17	TogoVar
PACSIN2_chr22_42864773_43020149	43014342	ACACACAC others(28): Show ACACACACACAGACACACACACACCACCCCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0002t0003 a0001c0002t0007 a0001c0002t0022 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0001c0005t0005 a0001c0005t0023 a0002c0004t0003 a0003c0006t0003 a0003c0006t0021 a0004c0008t0001	a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0043 others(199): Show a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0265 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0159 a0001c0001t0002g0181 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0011g0057 a0001c0001t0012g0145 a0001c0001t0013g0130 a0001c0001t0014g0094 a0001c0001t0015g0172 a0001c0001t0016g0114 a0001c0001t0017g0086 a0001c0001t0018g0101 a0001c0001t0024g0287 a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0162 a0001c0002t0003g0168 a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0007g0267 a0001c0002t0007g0268 a0001c0002t0007g0272 a0001c0002t0022g0018 a0001c0003t0003g0028 a0001c0003t0009g0080 a0001c0003t0009g0085 a0001c0003t0010g0071 a0001c0003t0010g0125 a0001c0005t0005g0282 a0001c0005t0005g0283 a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0023g0281 a0002c0004t0003g0166 a0002c0004t0003g0167 a0002c0004t0003g0169 a0002c0004t0003g0170 a0002c0004t0003g0171 a0003c0006t0003g0004 a0003c0006t0021g0006 a0004c0008t0001g0154	202	294	0.6871	-35	c.-78 others(50): Show c.-78+644_-78+678delGGGGGGGGGGTGGTGTGTGTGTGTCTGTGT GTGTG		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PAGE1_chrX_49682447_49700984	49689892	AGGTGTAT others(28): Show AGGTGTATATATATGTGTATATACACACATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	322	0.0031	-35	c.293 others(50): Show c.293-384_293-350delCTATATATGTGTGTATATACACATATATAT ACACC		PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5						chrX	TogoVar
PAGE2_chrX_55084018_55097842	55096070	CCCTCTGC others(28): Show CCCTCTGCATGAATTCACTAGGGTTTGTGACTGTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	316	0.0032	-35	c.33 others(46): Show c.3340_*3374delCCTCTGCATGAATTCACTAGGGTTTGTGACTGTT G		PAGE2	ENSG00000234068.7	transcript	ENST00000374968.9	protein_coding					3229		chrX	TogoVar
PAH_chr12_102831889_102922244	102848319	GAGAGGTG others(28): Show GAGAGGTGGAGGGTAGACAGGATACCAGGAGACTGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0006t0001 a0001c0007t0002 a0001c0008t0023 a0001c0008t0024 a0001c0009t0005 a0001c0009t0013 a0001c0012t0002 a0004c0013t0005	a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 others(76): Show a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0004g0232 a0001c0001t0004g0262 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0012g0146 a0001c0001t0012g0190 a0001c0006t0001g0213 a0001c0007t0002g0178 a0001c0008t0023g0242 a0001c0008t0024g0241 a0001c0009t0005g0235 a0001c0009t0005g0236 a0001c0009t0005g0238 a0001c0009t0013g0239 a0001c0009t0013g0240 a0001c0012t0002g0214 a0004c0013t0005g0237	80	312	0.2564	-35	c.913 others(52): Show c.913-1403_913-1369delTCAGTCTCCTGGTATCCTGTCTACCCTC CACCTCT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	8/12						chr12	TogoVar
PAH_chr12_102831889_102922244	102848631	CTGGAGAG others(28): Show CTGGAGAGGTAGAGGGTAAACAGGACACCAGGAGAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0006t0001 a0001c0007t0002 a0001c0008t0023 a0001c0008t0024 a0001c0009t0005 a0001c0009t0013 a0001c0012t0002 a0004c0013t0005	a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 others(76): Show a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0004g0232 a0001c0001t0004g0262 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0012g0146 a0001c0001t0012g0190 a0001c0006t0001g0213 a0001c0007t0002g0178 a0001c0008t0023g0242 a0001c0008t0024g0241 a0001c0009t0005g0235 a0001c0009t0005g0236 a0001c0009t0005g0238 a0001c0009t0013g0239 a0001c0009t0013g0240 a0001c0012t0002g0214 a0004c0013t0005g0237	80	312	0.2564	-35	c.913 others(52): Show c.913-1715_913-1681delTTCTCCTGGTGTCCTGTTTACCCTCTAC CTCTCCA		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	8/12						chr12	TogoVar
PAK5_chr20_9532370_9844076	9766382	ATATATGT others(28): Show ATATATGTATATATATATTCAAGCAGAATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02615.hp1 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0017 a0001c0002t0021 a0001c0005t0010 a0001c0002t0017 a0001c0002t0021 a0001c0005t0010	a0001c0002t0017g0153 a0001c0002t0021g0204 a0001c0005t0010g0064 a0001c0002t0017g0153 a0001c0002t0021g0204 a0001c0005t0010g0064	3	208	0.0144	-35	c.-16 others(56): Show c.-161-54982_-161-54948delCATATATATTCTGCTTGAATATAT ATATACATATA		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALMD_chr1_99641113_99699535	99683115	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04199.hp2 HG06807.hp2 others(1): Show HG03209.hp2 HG04199.hp2 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0261 a0001c0002t0002g0234 a0001c0002t0002g0305 others(1): Show a0001c0002t0001g0261 a0001c0002t0002g0234 a0001c0002t0002g0305 a0001c0002t0002g0358	4	380	0.0105	-35	c.252 others(52): Show c.252-3558_252-3524delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAM_chr5_102750305_103034716	102803143	AAGAAAGG others(28): Show AAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01496.hp2 others(16): Show HG00642.hp2 HG01123.hp1 HG01496.hp2 HG02074.hp1 HG02080.hp2 HG02486.hp2 HG03540.hp2 NA18747.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18981.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19064.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0005c0009t0002	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0001t0002g0109 a0001c0001t0007g0021 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0074 a0001c0002t0002g0108 a0001c0002t0002g0111 a0005c0009t0002g0010	19	188	0.1011	-35	c.-37 others(56): Show c.-374+47797_-374+47831delGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGA		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102820211	AGATTGTT others(28): Show AGATTGTTAGAGATGATTTCAAATCAGGGTCCTGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	1	188	0.0053	-35	c.-37 others(56): Show c.-373-45611_-373-45577delGATTGTTAGAGATGATTTCAAATC AGGGTCCTGTG		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25						chr5	TogoVar
PANX2_chr22_50165731_50185295	50170677	CCCGCGCC others(28): Show CCCGCGCCCCCCGCCCCGCCCGCGCCCCCCGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	440	0.0046	-35	c.-53 others(42): Show c.-53_-19delCCGCGCCCCCCGCCCCGCCCGCGCCCCCCGCCGGG		PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding					53		chr22	TogoVar
PAOX_chr10_133374262_133396694	133388820	TGTCATCC others(28): Show TGTCATCCCGGGGCTCTCTTTCTCCATGCAGGTCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005 a0006c0007 a0006c0008 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001 a0003c0004t0001 a0004c0005t0001 a0006c0007t0002 a0006c0008t0001 a0007c0010t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0004g0001 a0001c0001t0006g0009 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0049 a0001c0002t0002g0059 a0001c0002t0002g0072 a0001c0002t0002g0080 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0107 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0003g0153 a0002c0003t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0016 a0003c0004t0001g0026 a0004c0005t0001g0001 a0006c0007t0002g0050 a0006c0008t0001g0051 a0007c0010t0001g0001 a0008c0011t0001g0027	239	346	0.6908	-35	c.112 others(51): Show c.1122-127_1122-93delGGGGCTCTCTTTCTCCATGCAGGTCTGGT CATCCC		PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPPA_chr9_116148791_116407321	116289151	TATATATA others(28): Show TATATATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00735.hp1 others(19): Show HG00140.hp2 HG00639.hp2 HG00735.hp1 HG01256.hp1 HG01516.hp2 HG02148.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG04228.hp1 NA18522.hp1 NA18960.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18990.hp1 NA18990.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0039 a0001c0045 a0001c0046 a0002c0003 a0002c0004 a0002c0009 a0002c0019 a0002c0049 a0007c0033	a0001c0001t0001 a0001c0001t0002 a0001c0002t0014 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0014 a0001c0005t0059 a0001c0011t0009 a0001c0039t0002 a0001c0045t0003 a0001c0046t0036 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0035 a0002c0003t0050 a0002c0004t0004 a0002c0004t0010 a0002c0004t0020 a0002c0009t0040 a0002c0019t0046 a0002c0049t0053 a0007c0033t0003	a0001c0001t0001g0112 a0001c0001t0002g0115 a0001c0002t0014g0152 others(19): Show a0001c0001t0001g0112 a0001c0001t0002g0115 a0001c0002t0014g0152 a0001c0005t0059g0086 a0001c0011t0009g0094 a0001c0039t0002g0026 a0001c0045t0003g0119 a0001c0046t0036g0141 a0002c0003t0001g0077 a0002c0003t0002g0072 a0002c0003t0002g0079 a0002c0003t0002g0196 a0002c0003t0003g0186 a0002c0003t0035g0116 a0002c0003t0050g0207 a0002c0004t0004g0182 a0002c0004t0010g0052 a0002c0004t0020g0005 a0002c0009t0040g0099 a0002c0019t0046g0126 a0002c0049t0053g0232 a0007c0033t0003g0203	22	234	0.0940	-35	c.295 others(56): Show c.2954-13561_2954-13527delGCATATATATATAGCATATATGTA GCATATATATA		PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300917	CTCTCTCT others(28): Show CTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	284	0.0035	-35	c.-27 others(54): Show c.-277+1863_-277+1897delCTCTCTCTCTCTCTCTCTCTCTTTCT TTCCTTCTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69365046	AATTTTAT others(28): Show AATTTTATTTTATTTTATTTTATTTTATTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(101): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0001c0003t0020 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0023 a0002c0002t0024	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 others(101): Show a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0002g0015 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0003g0005 a0001c0001t0004g0269 a0001c0003t0003g0028 a0001c0003t0003g0068 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0118 a0001c0003t0003g0142 a0001c0003t0003g0159 a0001c0003t0003g0220 a0001c0003t0003g0248 a0001c0003t0003g0259 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0267 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0020g0132 a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0127 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0180 a0002c0002t0001g0205 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0234 a0002c0002t0002g0004 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0002t0002g0136 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0191 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0247 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0266 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0188 a0002c0002t0007g0169 a0002c0002t0007g0200 a0002c0002t0007g0204 a0002c0002t0009g0050 a0002c0002t0009g0227 a0002c0002t0023g0138 a0002c0002t0024g0167	104	284	0.3662	-35	c.51+ others(50): Show c.51+4950_51+4984delTATTTTATTTTATTTTATTTTATTTTATTT TATTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205037061	GTAGCGGA others(28): Show GTAGCGGACTGTATATATAAAACAAATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01884.hp2 others(29): Show HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0003 a0002c0002 others(18): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0006 a0002c0008 a0002c0016 a0002c0021 a0002c0022 a0003c0005 a0003c0009 a0003c0010 a0003c0018 a0004c0011 a0004c0012 a0004c0026 a0005c0013 a0006c0007 a0007c0017 a0007c0028 a0011c0027	a0001c0001t0004 a0001c0003t0016 a0002c0002t0001 others(25): Show a0001c0001t0004 a0001c0003t0016 a0002c0002t0001 a0002c0002t0004 a0002c0002t0013 a0002c0004t0002 a0002c0004t0021 a0002c0006t0007 a0002c0008t0001 a0002c0008t0004 a0002c0016t0002 a0002c0021t0001 a0002c0022t0018 a0003c0005t0001 a0003c0005t0005 a0003c0009t0009 a0003c0010t0019 a0003c0018t0002 a0004c0011t0005 a0004c0012t0003 a0004c0026t0004 a0005c0013t0001 a0005c0013t0003 a0006c0007t0001 a0006c0007t0005 a0007c0017t0012 a0007c0028t0003 a0011c0027t0015	a0001c0001t0004g0017 a0001c0003t0016g0046 a0002c0002t0001g0008 others(29): Show a0001c0001t0004g0017 a0001c0003t0016g0046 a0002c0002t0001g0008 a0002c0002t0001g0027 a0002c0002t0004g0029 a0002c0002t0013g0022 a0002c0004t0002g0035 a0002c0004t0021g0051 a0002c0006t0007g0013 a0002c0006t0007g0018 a0002c0008t0001g0054 a0002c0008t0004g0028 a0002c0016t0002g0037 a0002c0021t0001g0012 a0002c0022t0018g0020 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0005t0005g0045 a0003c0009t0009g0039 a0003c0010t0019g0030 a0003c0018t0002g0038 a0004c0011t0005g0044 a0004c0012t0003g0004 a0004c0012t0003g0048 a0004c0026t0004g0041 a0005c0013t0001g0001 a0005c0013t0003g0002 a0006c0007t0001g0026 a0006c0007t0005g0040 a0007c0017t0012g0006 a0007c0028t0003g0007 a0011c0027t0015g0003	32	54	0.5926	-35	c.395 others(54): Show c.395-10420_395-10386delCATATATAGCGGACTGTATATATAAA ACAAATATA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP2_chr14_20338635_20362904	20347370	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	420	0.0024	-35	c.324 others(50): Show c.324+459_324+493delATATATATATATATATATATATATATATTT TTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347372	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(41): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp2 HG02809.hp1 HG03239.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18945.hp1 NA18949.hp1 NA18960.hp1 NA18963.hp2 NA18968.hp1 NA18981.hp2 NA18983.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0010	a0001c0001 a0001c0002 a0003c0006 others(2): Show a0001c0001 a0001c0002 a0003c0006 a0009c0014 a0010c0012	a0001c0001t0002 a0001c0002t0002 a0003c0006t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0003c0006t0002 a0009c0014t0002 a0010c0012t0002	a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0068 others(14): Show a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0026 a0001c0002t0002g0058 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0078 a0003c0006t0002g0027 a0003c0006t0002g0077 a0009c0014t0002g0001 a0010c0012t0002g0013	44	420	0.1048	-35	c.324 others(50): Show c.324+461_324+495delATATATATATATATATATATATATATTTTT TTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347374	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	420	0.0024	-35	c.324 others(50): Show c.324+463_324+497delATATATATATATATATATATATATTTTTTT TTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARVB_chr22_44019302_44177939	44023537	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0039 a0001c0012t0082 a0001c0002t0039 a0001c0012t0082	a0001c0002t0039g0089 a0001c0012t0082g0129 a0001c0002t0039g0089 a0001c0012t0082g0129	2	332	0.0060	-35	c.-80 others(44): Show c.-802_-768delAAAATAAAATAAAATAAAATAAAATAAAATAAAAT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding					764		chr22	TogoVar
PARVB_chr22_44019302_44177939	44115170	ACCAACAC others(28): Show ACCAACACAGATACTTTGTTACTAAGTAAGGCCCTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0101 a0001c0002t0006g0101	1	332	0.0030	-35	c.274 others(52): Show c.274-3866_274-3832delCAACACAGATACTTTGTTACTAAGTAAG GCCCTGC		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PAWR_chr12_79579879_79695964	79613953	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	256	0.0039	-35	c.649 others(50): Show c.649-379_649-345delAAAAAAAAATATATATATATATATATATAT ATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613957	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02615.hp1 others(1): Show HG02258.hp2 HG02559.hp2 HG02615.hp1 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0015 a0002c0002t0001 a0002c0002t0015	a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0213 others(1): Show a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0213 a0002c0002t0015g0177	4	256	0.0156	-35	c.649 others(50): Show c.649-383_649-349delAAAAAAAAAAAAATATATATATATATATAT ATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0253	1	256	0.0039	-35	c.649 others(50): Show c.649-385_649-351delAAAAAAAAAAAAAAATATATATATATATAT ATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar

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