Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRXL2A_chr10_80403551_80442115	80406763	T T	TATATATA others(10): Show TATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0033 a0001c0001t0057g0033	1	298	0.0034	17	c.-18 others(28): Show c.-1883_-1882insATATATATATATATATG	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1787		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80410481	T T	TGTGCAGT others(10): Show TGTGCAGTGACACAGCTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0172 a0001c0001t0048g0172	1	298	0.0034	17	c.-3+ others(32): Show c.-3+1838_-3+1839insGTGCAGTGACACAGCTG	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding	1/5			chr10	TogoVar
PSAP_chr10_71811298_71856251	71853204	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02280.hp1 HG02818.hp2 others(6): Show HG01433.hp2 HG02280.hp1 HG02818.hp2 HG02922.hp1 NA18747.hp2 NA18942.hp1 NA18947.hp2 NA18956.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0002c0002t0004	a0001c0001t0001g0100 a0001c0001t0001g0221 a0001c0001t0002g0010 others(5): Show a0001c0001t0001g0100 a0001c0001t0001g0221 a0001c0001t0002g0010 a0001c0001t0002g0055 a0001c0001t0002g0230 a0001c0010t0001g0096 a0002c0002t0004g0038 a0002c0002t0004g0039	9	85	0.1059	17	c.-19 others(28): Show c.-1984_-1983insTTTTTTTTTTTTTTTTT	PSAP	ENSG00000197746.15	transcript	ENST00000394936.8	protein_coding		1954		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18960.hp1 NA19079.hp2 HG02523.hp1 NA18960.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0167 a0001c0001t0001g0338 a0001c0002t0002g0087 a0001c0001t0001g0167 a0001c0001t0001g0338 a0001c0002t0002g0087	3	158	0.0190	17	c.870 others(34): Show c.870-1095_870-1094insATATATATTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18747.hp2 NA18952.hp2 others(2): Show HG00438.hp2 NA18747.hp2 NA18952.hp2 NA19002.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0262 a0001c0001t0001g0263 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0113	5	160	0.0313	17	c.870 others(34): Show c.870-1095_870-1094insATATATTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02074.hp1 HG02129.hp2 others(7): Show HG00423.hp1 HG02074.hp1 HG02129.hp2 HG02155.hp2 NA18939.hp1 NA18941.hp1 NA18948.hp2 NA18959.hp1 NA18962.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0160 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0002t0001g0247 a0001c0002t0001g0252	10	165	0.0606	17	c.870 others(34): Show c.870-1095_870-1094insATATTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18524782	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0158 a0001c0001t0042g0158	1	123	0.0081	17	c.10 others(30): Show c.10960_*10961insTTTTTTTTTTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding		2520		chr8	TogoVar
PSD3_chr8_18522303_19018703	18594254	T T	TAATATAT others(10): Show TAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0052 a0001c0028t0006 a0001c0001t0052 a0001c0028t0006	a0001c0001t0052g0208 a0001c0028t0006g0199 a0001c0001t0052g0208 a0001c0028t0006g0199	2	213	0.0094	17	c.248 others(36): Show c.2481+6109_2481+6110insTATATATAATATATATT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00140.hp2 HG00280.hp2	a0003 a0003	a0003c0004 a0003c0008 a0003c0004 a0003c0008	a0003c0004t0004 a0003c0008t0007 a0003c0004t0004 a0003c0008t0007	a0003c0004t0004g0219 a0003c0008t0007g0128 a0003c0004t0004g0219 a0003c0008t0007g0128	2	82	0.0244	17	c.22- others(34): Show c.22-13103_22-13102insATATATATTTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0309 a0001c0001t0011g0309	1	360	0.0028	17	c.87+ others(32): Show c.87+3789_87+3790insATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202462	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	210	0.0048	17	c.869 others(34): Show c.869-3923_869-3922insATATATATATATTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02965.hp2 HG01358.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0140 a0001c0001t0001g0135 a0001c0001t0002g0140	2	45	0.0444	17	c.112 others(34): Show c.1129+171_1129+187dupTTTTTTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG2_chr19_43059209_43087701	43082913	A A	ACACACAC others(10): Show ACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	17	c.-34 others(26): Show c.-345_-344insGTGTGTGTGTGTGTGTG	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding		213		chr19	TogoVar
PSG4_chr19_43187702_43210638	43200898	A A	ACTTTTGA others(10): Show ACTTTTGAGATTGTTCAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19060.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0002 a0015 a0020 a0002 a0015 a0020	a0002c0002 a0002c0037 a0015c0020 others(1): Show a0002c0002 a0002c0037 a0015c0020 a0020c0038	a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0002c0037t0003 a0015c0020t0003 a0020c0038t0006	a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 others(22): Show a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0167 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0006g0168 a0002c0002t0006g0170 a0002c0002t0006g0172 a0002c0002t0017g0175 a0002c0002t0018g0169 a0002c0037t0003g0166 a0015c0020t0003g0041 a0020c0038t0006g0181	42	298	0.1409	17	c.431 others(34): Show c.431-2624_431-2623insCTGAACAATCTCAAAAG	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	2/5			chr19	TogoVar
PSG4_chr19_43187702_43210638	43203254	C C	CTCCCAAG others(10): Show CTCCCAAGGCAGTTGGCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19060.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0002 a0015 a0020 a0002 a0015 a0020	a0002c0002 a0002c0037 a0015c0020 others(1): Show a0002c0002 a0002c0037 a0015c0020 a0020c0038	a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0002c0037t0003 a0015c0020t0003 a0020c0038t0006	a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 others(22): Show a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0167 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0006g0168 a0002c0002t0006g0170 a0002c0002t0006g0172 a0002c0002t0017g0175 a0002c0002t0018g0169 a0002c0037t0003g0166 a0015c0020t0003g0041 a0020c0038t0006g0181	42	294	0.1429	17	c.430 others(32): Show c.430+631_430+632insAGCCAACTGCCTTGGGA	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	2/5			chr19	TogoVar
PSG4_chr19_43187702_43210638	43205111	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0027 a0001c0011t0005g0027	2	69	0.0290	17	c.64+ others(30): Show c.64+361_64+362insAAAAAAAAAAAAAAAAA	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5			chr19	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03834.hp2 NA18956.hp2 HG01516.hp2 HG03834.hp2 NA18956.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0153 a0001c0001t0001g0154 a0004c0004t0003g0094 a0001c0001t0001g0153 a0001c0001t0001g0154 a0004c0004t0003g0094	3	67	0.0448	17	c.430 others(34): Show c.430+2060_430+2076dupAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19011.hp2 NA19079.hp2 others(1): Show HG00099.hp2 NA19011.hp2 NA19079.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0215 a0002c0003t0003g0010	4	139	0.0288	17	c.430 others(34): Show c.430+2096_430+2097insATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19091.hp1 HG02273.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0001c0002t0002 a0002c0003t0003	a0001c0002t0002g0011 a0002c0003t0003g0067 a0001c0002t0002g0011 a0002c0003t0003g0067	2	137	0.0146	17	c.430 others(34): Show c.430+2096_430+2097insAAATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18965.hp1 HG03540.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0202 a0001c0002t0002g0011 a0001c0001t0001g0202 a0001c0002t0002g0011	2	137	0.0146	17	c.430 others(34): Show c.430+2096_430+2097insAAAAATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0153 a0005c0018t0001g0153	1	136	0.0074	17	c.430 others(34): Show c.430+2096_430+2097insAAAAAAATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	136	0.0074	17	c.430 others(34): Show c.430+2096_430+2097insAAAAAAAAATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18970.hp2 NA18988.hp1 HG03927.hp2 NA18970.hp2 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0012 a0001c0002t0002g0084 a0001c0005t0002g0042 a0001c0002t0002g0012 a0001c0002t0002g0084 a0001c0005t0002g0042	3	138	0.0217	17	c.430 others(34): Show c.430+2096_430+2097insAAAAAAAAAAAAAAATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933308	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp2 HG02922.hp2 others(3): Show HG00597.hp2 HG02071.hp2 HG02922.hp2 NA18612.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0054 a0001c0001t0001g0154 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0002t0002g0077	6	341	0.0176	17	c.430 others(34): Show c.430+2095_430+2096insTATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG8_chr19_42749233_42770678	42752943	G G	GGGTTGAG others(10): Show GGGTTGAGATGGTTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00738.hp2 others(22): Show HG00280.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01993.hp2 HG02040.hp1 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG03471.hp2 HG03688.hp1 HG04199.hp2 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA19240.hp2 NA20752.hp2	a0003 a0009 a0011 others(1): Show a0003 a0009 a0011 a0027	a0003c0003 a0003c0013 a0003c0031 others(3): Show a0003c0003 a0003c0013 a0003c0031 a0009c0014 a0011c0035 a0027c0029	a0003c0003t0001 a0003c0013t0001 a0003c0031t0001 others(3): Show a0003c0003t0001 a0003c0013t0001 a0003c0031t0001 a0009c0014t0001 a0011c0035t0001 a0027c0029t0001	a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(8): Show a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0201 a0003c0013t0001g0153 a0003c0031t0001g0202 a0009c0014t0001g0045 a0011c0035t0001g0205 a0027c0029t0001g0204	25	436	0.0573	17	c.13 others(28): Show c.1351_*1352insTCTCAACCATCTCAACC	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding		1289		chr19	TogoVar
PSKH2_chr8_86042109_86074668	86057314	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0189 a0003c0004t0002g0189	1	414	0.0024	17	c.852 others(34): Show c.852+6650_852+6651insGTGTGTGTGTGTGTGTG	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMA1_chr11_14499876_14525386	14508561	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG02273.hp2 others(3): Show HG00639.hp1 HG01168.hp1 HG02273.hp2 HG02809.hp2 HG03017.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0114 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0156	6	9	0.6667	17	c.625 others(32): Show c.625-796_625-795insTTTTTTTTTTTTTTTTT	PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9			chr11	TogoVar
PSMA2_chr7_42911861_42937174	42912007	C C	CGCTCGAA others(10): Show CGCTCGAACGCCGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	334	0.0060	17	c.55 others(28): Show c.5550_*5566dupCGCCTCGGCGTTCGAGC	PSMA2	ENSG00000106588.12	transcript	ENST00000223321.9	protein_coding		4853		chr7	TogoVar
PSMA6_chr14_35287382_35322493	35299327	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01109.hp1 others(12): Show HG00099.hp2 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02615.hp2 HG03017.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18991.hp1 NA19089.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0046 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0003g0172	15	60	0.2500	17	c.76+ others(32): Show c.76+6788_76+6789insTTTTTTTTTTTTTTTTT	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA7_chr20_62131733_62148394	62146605	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02280.hp2 HG02922.hp1 others(5): Show HG01123.hp1 HG02280.hp2 HG02922.hp1 HG03225.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0012	8	58	0.1379	17	c.-33 others(28): Show c.-3319_-3303dupAAAAAAAAAAAAAAAAA	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		3212		chr20	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18970.hp1 NA18973.hp1 HG02572.hp2 NA18970.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0110 a0001c0001t0002g0186 a0001c0001t0002g0004 a0001c0001t0002g0110 a0001c0001t0002g0186	3	186	0.0161	17	c.285 others(34): Show c.285+2677_285+2678insATTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp1 NA18995.hp1 others(1): Show HG02976.hp1 HG06807.hp1 NA18995.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0120 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0120 a0001c0001t0031g0106	4	187	0.0214	17	c.285 others(34): Show c.285+2677_285+2678insATATATTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	184	0.0054	17	c.285 others(34): Show c.285+2677_285+2678insATATATATATATATATT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB5_chr14_23020856_23039900	23025672	T T	TGCCTCTC others(10): Show TGCCTCTCTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 NA20805.hp1 HG00099.hp1 HG00099.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	402	0.0075	17	c.40 others(26): Show c.400_*416dupGAGAAGGAGAGAGAGGC	PSMB5	ENSG00000100804.19	transcript	ENST00000361611.11	protein_coding		183		chr14	TogoVar
PSMC2_chr7_103342643_103374395	103364984	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04204.hp1 HG02165.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0192 a0001c0001t0001g0112 a0001c0001t0002g0192	2	374	0.0053	17	c.756 others(32): Show c.756+677_756+678insATATATATATATATATA	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding	8/11			chr7	TogoVar
PSMD11_chr17_32439510_32488319	32465777	C C	CTGAGCTC others(10): Show CTGAGCTCAGGAGTTGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0086 a0001c0003t0014g0086	1	288	0.0035	17	c.448 others(34): Show c.448+1199_448+1200insTGAGCTCAGGAGTTGGA	PSMD11	ENSG00000108671.11	transcript	ENST00000261712.8	protein_coding	5/13			chr17	TogoVar
PSMD13_chr11_231976_257984	240101	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19009.hp1 HG02015.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	2	80	0.0250	17	c.174 others(34): Show c.174+1036_174+1052dupTTTTTTTTTTTTTTTTT	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(10): Show GTTGTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19004.hp2 NA19091.hp1 HG02040.hp2 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0132 a0001c0001t0001g0199 a0001c0001t0001g0200	3	37	0.0811	17	c.571 others(34): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(10): Show GTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01192.hp2 others(13): Show HG00423.hp1 HG00438.hp1 HG01192.hp2 HG02015.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02615.hp1 HG02698.hp2 HG03669.hp1 HG03710.hp1 HG04115.hp1 NA18957.hp1 NA18990.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0198 a0001c0001t0001g0201 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252	16	50	0.3200	17	c.571 others(34): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD1_chr2_231051867_231177827	231065261	G G	GTTTTTTG others(10): Show GTTTTTTGTTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	357	0.0028	17	c.305 others(34): Show c.305-1622_305-1606dupTGTTTTTTTGTTTTTTT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01358.hp1 others(30): Show HG00741.hp2 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01981.hp1 HG02056.hp2 HG02109.hp1 HG02148.hp2 HG02280.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03516.hp2 NA18940.hp1 NA18945.hp2 NA18960.hp2 NA18963.hp2 NA18967.hp2 NA18974.hp1 NA18979.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0132	33	72	0.4583	17	c.-35 others(28): Show c.-3523_-3522insAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	65	0.0154	17	c.454 others(34): Show c.454-1329_454-1313dupTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSMD9_chr12_121883790_121923297	121904639	T T	TTATTATT others(10): Show TTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	88	0.0114	17	c.555 others(34): Show c.555+1533_555+1534insATTATTATTATTATTAT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME4_chr2_53859069_53975993	53873238	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02145.hp1 HG02683.hp2 others(6): Show HG00621.hp1 HG02145.hp1 HG02683.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp1 NA18940.hp1 NA18975.hp2 NA19000.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0014c0026	a0001c0001t0003 a0001c0005t0001 a0001c0005t0007 others(4): Show a0001c0001t0003 a0001c0005t0001 a0001c0005t0007 a0001c0006t0003 a0001c0006t0005 a0001c0007t0001 a0014c0026t0001	a0001c0001t0003g0203 a0001c0005t0001g0311 a0001c0005t0001g0319 others(6): Show a0001c0001t0003g0203 a0001c0005t0001g0311 a0001c0005t0001g0319 a0001c0005t0001g0351 a0001c0005t0007g0331 a0001c0006t0003g0165 a0001c0006t0005g0004 a0001c0007t0001g0361 a0014c0026t0001g0013	9	150	0.0600	17	c.510 others(36): Show c.5100+1100_5100+1101insTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53873243	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0292 a0001c0009t0013g0292	1	382	0.0026	17	c.510 others(36): Show c.5100+1095_5100+1096insCTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53873247	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0378 a0004c0008t0001g0378	1	379	0.0026	17	c.510 others(36): Show c.5100+1091_5100+1092insCTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0012 a0001c0007t0006g0014 a0001c0007t0006g0012 a0001c0007t0006g0014	2	71	0.0282	17	c.481 others(34): Show c.4816-978_4816-962dupAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01081.hp1 others(2): Show HG00639.hp2 HG00642.hp2 HG01081.hp1 HG01255.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0047 others(1): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0047 a0001c0001t0066	a0001c0001t0004g0019 a0001c0001t0004g0216 a0001c0001t0026g0019 others(2): Show a0001c0001t0004g0019 a0001c0001t0004g0216 a0001c0001t0026g0019 a0001c0001t0047g0222 a0001c0001t0066g0203	5	154	0.0325	17	c.366 others(34): Show c.366-1551_366-1550insATATATATATATTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG1_chr21_39169769_39188451	39181718	A A	AAGTATAT others(10): Show AAGTATATTTCATTCTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0052 a0001c0004t0004g0052	1	390	0.0026	17	c.241 others(30): Show c.241+37_241+53dupAAAGAATGAAATATACT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding	2/6			chr21	TogoVar
PSMG1_chr21_39169769_39188451	39185295	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01515.hp2 others(3): Show HG00642.hp2 HG01099.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0022 a0001c0003t0003g0006 a0001c0003t0003g0022	6	83	0.0723	17	c.-19 others(28): Show c.-1927_-1911dupTTTTTTTTTTTTTTTTT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding		1845		chr21	TogoVar

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