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
PUM2_chr2_20243737_20355844	20264362	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259	3	358	0.0084	-15	c.195 others(32): Show c.1958-917_1958-903delATATATATATTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264366	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	358	0.0028	-15	c.195 others(32): Show c.1958-921_1958-907delATATATATATATATT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS10_chr2_60935223_61023255	60979099	CCCAACAC others(8): Show CCCAACACATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	246	0.0041	-15	c.469 others(32): Show c.469-7557_469-7543delATGTGTATGTGTTGG	PUS10	ENSG00000162927.14	transcript	ENST00000316752.11	protein_coding	4/17			chr2	TogoVar
PUS7L_chr12_43713992_43763790	43718800	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0050 a0001c0001t0073g0050	1	306	0.0033	-15	c.11 others(28): Show c.11561_*11575delATATATATTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		191		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456045	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 NA18956.hp2 HG04184.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0206 a0001c0001t0004g0349 a0001c0001t0001g0206 a0001c0001t0004g0349	2	350	0.0057	-15	c.17 others(26): Show c.1730_*1744delTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		457		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456063	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18960.hp1 NA18969.hp1 others(1): Show NA18942.hp2 NA18960.hp1 NA18969.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0225 a0001c0002t0013g0140	4	350	0.0114	-15	c.17 others(26): Show c.1712_*1726delATTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		439		chr7	TogoVar
PUS7_chr7_105451503_105527271	105462057	GAAAAGAA others(8): Show GAAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02027.hp1 HG02155.hp2 others(15): Show HG01934.hp1 HG02027.hp1 HG02155.hp2 HG03491.hp2 NA18942.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp1 NA18977.hp1 NA18980.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19065.hp2 NA19068.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0013	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0150 others(15): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0271 a0001c0001t0002g0321 a0001c0001t0004g0340 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0013g0140	18	350	0.0514	-15	c.175 others(32): Show c.1757+549_1757+563delTCTTTTCTTTCTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	14/15			chr7	TogoVar
PVALB_chr22_36795703_36822035	36821440	AGATGGCC others(8): Show AGATGGCCTTCCTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	421	0.0024	-15	c.-44 others(26): Show c.-4450_-4436delAAGAGGAAGGCCATC	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4406		chr22	TogoVar
PVRIG_chr7_100214949_100226490	100216480	TTCAACAT others(8): Show TTCAACATTTTCTGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-15	c.-34 others(26): Show c.-3490_-3476delTCAACATTTTCTGAA	PVRIG	ENSG00000213413.3	transcript	ENST00000699088.1	protein_coding		3468		chr7	TogoVar
PVR_chr19_44638910_44671162	44655035	GATAATAC others(8): Show GATAATACATAATTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG01884.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0057 a0001c0001t0028g0126 a0001c0001t0028g0057 a0001c0001t0028g0126	2	412	0.0049	-15	c.842 others(32): Show c.842+1035_842+1049delTAATACATAATTTTA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44670781	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG01891.hp1 others(21): Show HG00738.hp1 HG01361.hp2 HG01891.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 others(16): Show a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0093 a0001c0001t0114 a0001c0004t0026 a0001c0004t0027 a0001c0004t0050 a0001c0004t0052 a0001c0004t0053 a0002c0002t0035 a0003c0003t0045 a0003c0003t0107 a0003c0003t0110 a0003c0003t0111 a0003c0003t0113	a0001c0001t0028g0057 a0001c0001t0038g0035 a0001c0001t0039g0148 others(20): Show a0001c0001t0028g0057 a0001c0001t0038g0035 a0001c0001t0039g0148 a0001c0001t0039g0150 a0001c0001t0057g0228 a0001c0001t0058g0233 a0001c0001t0059g0229 a0001c0001t0093g0224 a0001c0001t0114g0111 a0001c0004t0026g0023 a0001c0004t0026g0172 a0001c0004t0027g0022 a0001c0004t0027g0173 a0001c0004t0050g0022 a0001c0004t0052g0023 a0001c0004t0053g0022 a0002c0002t0035g0002 a0003c0003t0045g0034 a0003c0003t0045g0096 a0003c0003t0107g0032 a0003c0003t0110g0128 a0003c0003t0111g0032 a0003c0003t0113g0112	24	412	0.0583	-15	c.89 others(26): Show c.8971_*8985delAAAAAAAAAAAAAAA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		4620		chr19	TogoVar
PWP1_chr12_107680799_107718162	107688030	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0072 a0001c0001t0012g0072	1	342	0.0029	-15	c.73- others(28): Show c.73-402_73-388delAAAAAAAAAAAAAAA	PWP1	ENSG00000136045.12	transcript	ENST00000412830.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PWWP2A_chr5_160086339_160124450	160109769	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0041 a0008c0010t0041	a0008c0010t0041g0074 a0008c0010t0041g0074	1	384	0.0026	-15	c.584 others(32): Show c.584+9021_584+9035delATATATATATTTTTT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160115137	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02738.hp2 HG02976.hp1 others(1): Show HG01981.hp2 HG02738.hp2 HG02976.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0004t0001	a0001c0001t0002g0233 a0001c0001t0004g0232 a0001c0001t0019g0050 others(1): Show a0001c0001t0002g0233 a0001c0001t0004g0232 a0001c0001t0019g0050 a0001c0004t0001g0334	4	384	0.0104	-15	c.584 others(32): Show c.584+3653_584+3667delTTTTTTTTTTTTTTT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	AATGGTGA others(8): Show AATGGTGATGATGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0139 a0003c0004t0001g0139	1	374	0.0027	-15	c.-46 others(26): Show c.-4666_-4652delATGGTGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132414570	CTGGAGGA others(8): Show CTGGAGGATGCATAGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(3): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG03688.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0027 a0003c0008t0001g0061 a0003c0008t0001g0088 others(1): Show a0003c0008t0001g0027 a0003c0008t0001g0061 a0003c0008t0001g0088 a0003c0008t0001g0115	6	374	0.0160	-15	c.17 others(32): Show c.17-2485_*17-2471delGATGCATAGGTGGAG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP3A_chr19_1349959_1383429	1376292	TTTGTTTT others(8): Show TTTGTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0291 a0001c0001t0006g0291	1	412	0.0024	-15	c.207 others(32): Show c.2076-224_2076-210delGTTTTTTTTTTTGTT	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDNL_chr8_51314577_51814445	51433209	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00741.hp1 others(27): Show HG00438.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01167.hp2 HG01192.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02735.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18947.hp2 NA18956.hp2 NA18966.hp1 NA18979.hp1 NA18984.hp2 NA19030.hp2 NA19088.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(9): Show a0001 a0003 a0005 a0009 a0010 a0011 a0012 a0023 a0025 a0028 a0029 a0033	a0001c0001 a0003c0003 a0003c0005 others(12): Show a0001c0001 a0003c0003 a0003c0005 a0005c0014 a0005c0017 a0005c0029 a0009c0008 a0010c0011 a0011c0012 a0012c0013 a0023c0050 a0025c0021 a0028c0027 a0029c0022 a0033c0035	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(17): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0003c0005t0003 a0005c0014t0001 a0005c0014t0002 a0005c0017t0001 a0005c0029t0001 a0009c0008t0001 a0009c0008t0003 a0010c0011t0001 a0011c0012t0001 a0012c0013t0001 a0012c0013t0003 a0023c0050t0003 a0025c0021t0002 a0028c0027t0003 a0029c0022t0002 a0033c0035t0002	a0001c0001t0002g0101 a0003c0003t0001g0021 a0003c0003t0001g0051 others(27): Show a0001c0001t0002g0101 a0003c0003t0001g0021 a0003c0003t0001g0051 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0002g0107 a0003c0005t0001g0041 a0003c0005t0001g0070 a0003c0005t0003g0003 a0003c0005t0003g0006 a0003c0005t0003g0010 a0005c0014t0001g0030 a0005c0014t0002g0115 a0005c0017t0001g0024 a0005c0017t0001g0085 a0005c0029t0001g0083 a0009c0008t0001g0059 a0009c0008t0001g0064 a0009c0008t0003g0007 a0010c0011t0001g0038 a0011c0012t0001g0058 a0011c0012t0001g0066 a0012c0013t0001g0056 a0012c0013t0003g0018 a0023c0050t0003g0014 a0025c0021t0002g0108 a0028c0027t0003g0002 a0029c0022t0002g0094 a0033c0035t0002g0122	30	122	0.2459	-15	c.152 others(34): Show c.1526-6466_1526-6452delATTATTATTATTATT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	12/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51486780	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	122	0.0082	-15	c.453 others(32): Show c.453-3081_453-3067delATATATATATATATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51486784	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	122	0.0082	-15	c.453 others(32): Show c.453-3085_453-3071delAAAAATATATATATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51486792	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02717.hp1 HG01192.hp1 HG02717.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0017c0037 a0002c0002 a0017c0037	a0002c0002t0001 a0017c0037t0001 a0002c0002t0001 a0017c0037t0001	a0002c0002t0001g0040 a0017c0037t0001g0091 a0002c0002t0001g0040 a0017c0037t0001g0091	2	122	0.0164	-15	c.453 others(32): Show c.453-3093_453-3079delAAAAAAAAAAAAATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51546929	CCCTTGGA others(8): Show CCCTTGGAACATAACT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02896.hp1 others(2): Show HG02559.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp2	a0007 a0031 a0007 a0031	a0007c0006 a0031c0043 a0007c0006 a0031c0043	a0007c0006t0001 a0031c0043t0001 a0007c0006t0001 a0031c0043t0001	a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 others(2): Show a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 a0007c0006t0001g0046 a0031c0043t0001g0044	5	122	0.0410	-15	c.380 others(32): Show c.380+9896_380+9910delAGTTATGTTCCAAGG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744964	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp2 others(7): Show HG01884.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2	a0002 a0004 a0007 others(3): Show a0002 a0004 a0007 a0010 a0016 a0031	a0002c0002 a0004c0004 a0007c0006 others(3): Show a0002c0002 a0004c0004 a0007c0006 a0010c0011 a0016c0016 a0031c0043	a0002c0002t0001 a0004c0004t0001 a0007c0006t0001 others(3): Show a0002c0002t0001 a0004c0004t0001 a0007c0006t0001 a0010c0011t0001 a0016c0016t0001 a0031c0043t0001	a0002c0002t0001g0039 a0002c0002t0001g0040 a0004c0004t0001g0037 others(7): Show a0002c0002t0001g0039 a0002c0002t0001g0040 a0004c0004t0001g0037 a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 a0007c0006t0001g0046 a0010c0011t0001g0038 a0016c0016t0001g0075 a0031c0043t0001g0044	10	122	0.0820	-15	c.164 others(34): Show c.164+64202_164+64216delTTTCTTTCTTTCTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1710825	TCTCCACC others(8): Show TCTCCACCAGCACCCA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0023 a0001c0006 a0001c0023	a0001c0006t0004 a0001c0023t0004 a0001c0006t0004 a0001c0023t0004	a0001c0006t0004g0231 a0001c0023t0004g0230 a0001c0006t0004g0231 a0001c0023t0004g0230	2	322	0.0062	-15	c.201 others(34): Show c.201-17706_201-17692delTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710904	TCTCCACC others(8): Show TCTCCACCAGCACCCA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02135.hp1 HG04184.hp1 HG02080.hp2 HG02135.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0047 a0001c0001 a0001c0002 a0001c0047	a0001c0001t0002 a0001c0002t0003 a0001c0047t0002 a0001c0001t0002 a0001c0002t0003 a0001c0047t0002	a0001c0001t0002g0270 a0001c0002t0003g0111 a0001c0047t0002g0119 a0001c0001t0002g0270 a0001c0002t0003g0111 a0001c0047t0002g0119	3	322	0.0093	-15	c.201 others(34): Show c.201-17785_201-17771delTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710928	GCACCCAC others(8): Show GCACCCACTCTATGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(120): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0011 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0016 a0001c0022 a0001c0027 a0001c0033 a0001c0034 a0001c0042 a0003c0018 a0005c0037 a0006c0017 a0007c0050 a0011c0028 a0012c0045 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0005t0007 a0001c0006t0008 a0001c0008t0002 a0001c0015t0003 a0001c0016t0005 a0001c0022t0014 a0001c0027t0001 a0001c0033t0028 a0001c0034t0001 a0001c0042t0030 a0003c0018t0005 a0005c0037t0003 a0006c0017t0001 a0007c0050t0002 a0011c0028t0002 a0012c0045t0006 a0014c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0066 a0001c0001t0001g0069 others(120): Show a0001c0001t0001g0034 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0221 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0248 a0001c0001t0002g0261 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0003g0117 a0001c0001t0003g0179 a0001c0001t0003g0195 a0001c0001t0005g0174 a0001c0001t0005g0299 a0001c0001t0009g0073 a0001c0001t0009g0177 a0001c0001t0015g0037 a0001c0001t0015g0315 a0001c0001t0019g0241 a0001c0001t0031g0214 a0001c0001t0033g0184 a0001c0002t0002g0092 a0001c0002t0002g0200 a0001c0002t0003g0051 a0001c0002t0003g0074 a0001c0002t0003g0097 a0001c0002t0003g0102 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0113 a0001c0002t0003g0168 a0001c0002t0003g0182 a0001c0002t0003g0186 a0001c0002t0003g0196 a0001c0002t0003g0216 a0001c0002t0003g0278 a0001c0002t0003g0295 a0001c0002t0003g0313 a0001c0002t0032g0288 a0001c0003t0001g0110 a0001c0003t0001g0282 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0316 a0001c0003t0012g0254 a0001c0004t0004g0305 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0005t0007g0160 a0001c0006t0008g0314 a0001c0008t0002g0296 a0001c0008t0002g0297 a0001c0015t0003g0116 a0001c0016t0005g0001 a0001c0022t0014g0047 a0001c0027t0001g0260 a0001c0033t0028g0046 a0001c0034t0001g0215 a0001c0042t0030g0088 a0003c0018t0005g0048 a0005c0037t0003g0036 a0006c0017t0001g0127 a0006c0017t0001g0128 a0007c0050t0002g0321 a0011c0028t0002g0129 a0012c0045t0006g0062 a0014c0021t0002g0250	123	322	0.3820	-15	c.201 others(34): Show c.201-17809_201-17795delTTCATAGAGTGGGTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711299	TCTCCACC others(8): Show TCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(33): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02165.hp2 HG03195.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA19005.hp2 NA19007.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0015 a0001c0036 a0004c0026 a0016c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0006t0027 a0001c0008t0002 a0001c0015t0003 a0001c0036t0003 a0004c0026t0003 a0016c0032t0002	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0192 others(33): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0198 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0265 a0001c0001t0002g0276 a0001c0001t0003g0240 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0196 a0001c0002t0003g0229 a0001c0002t0003g0238 a0001c0006t0027g0303 a0001c0008t0002g0201 a0001c0008t0002g0272 a0001c0008t0002g0275 a0001c0008t0002g0318 a0001c0015t0003g0118 a0001c0036t0003g0099 a0004c0026t0003g0228 a0016c0032t0002g0120	36	322	0.1118	-15	c.201 others(34): Show c.201-18180_201-18166delCGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711457	TCTCCACC others(8): Show TCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(82): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20805.hp1	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0014 a0001c0016 a0001c0027 a0001c0034 a0001c0041 a0001c0042 a0001c0046 a0012c0045 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0004t0004 a0001c0006t0008 a0001c0008t0002 a0001c0014t0013 a0001c0016t0005 a0001c0027t0001 a0001c0034t0001 a0001c0041t0006 a0001c0042t0030 a0001c0046t0025 a0012c0045t0006 a0014c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0172 a0001c0001t0001g0175 others(82): Show a0001c0001t0001g0034 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0221 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0248 a0001c0001t0002g0261 a0001c0001t0002g0287 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0003g0179 a0001c0001t0003g0195 a0001c0001t0005g0174 a0001c0001t0009g0177 a0001c0001t0009g0180 a0001c0001t0015g0037 a0001c0001t0015g0315 a0001c0001t0031g0214 a0001c0001t0033g0184 a0001c0002t0003g0051 a0001c0002t0003g0097 a0001c0002t0003g0131 a0001c0002t0003g0182 a0001c0002t0003g0186 a0001c0002t0003g0196 a0001c0002t0003g0216 a0001c0002t0003g0295 a0001c0002t0003g0313 a0001c0002t0032g0288 a0001c0003t0001g0282 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0316 a0001c0003t0008g0304 a0001c0003t0012g0254 a0001c0004t0004g0305 a0001c0004t0004g0310 a0001c0006t0008g0314 a0001c0008t0002g0297 a0001c0014t0013g0145 a0001c0016t0005g0001 a0001c0027t0001g0260 a0001c0034t0001g0215 a0001c0041t0006g0045 a0001c0042t0030g0088 a0001c0046t0025g0209 a0012c0045t0006g0062 a0014c0021t0002g0250	85	322	0.2640	-15	c.201 others(34): Show c.201-18338_201-18324delCGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711568	TCTCCACC others(8): Show TCTCCACCAGCACCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp2 others(26): Show HG00140.hp2 HG00323.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01258.hp2 HG01516.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp2 HG02293.hp2 HG02602.hp2 HG02886.hp1 HG02976.hp1 HG03239.hp2 HG03486.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA19043.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0005c0043 a0009c0051	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0010t0008 a0001c0012t0016 a0005c0043t0002 a0009c0051t0001	a0001c0001t0001g0044 a0001c0001t0001g0135 a0001c0001t0001g0136 others(26): Show a0001c0001t0001g0044 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0267 a0001c0001t0002g0031 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0170 a0001c0001t0005g0132 a0001c0001t0022g0319 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0148 a0001c0003t0001g0035 a0001c0003t0001g0085 a0001c0003t0001g0141 a0001c0003t0002g0124 a0001c0003t0012g0123 a0001c0004t0004g0121 a0001c0010t0008g0049 a0001c0012t0016g0122 a0005c0043t0002g0133 a0009c0051t0001g0322	29	322	0.0901	-15	c.201 others(34): Show c.201-18449_201-18435delTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1716440	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02280.hp1 others(7): Show HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0041 a0001c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0002t0003 a0001c0003t0008 a0001c0004t0004 a0001c0006t0008 a0001c0041t0006 a0001c0046t0025	a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0002g0292 others(7): Show a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0002g0292 a0001c0001t0015g0315 a0001c0002t0003g0313 a0001c0003t0008g0304 a0001c0004t0004g0310 a0001c0006t0008g0314 a0001c0041t0006g0045 a0001c0046t0025g0209	10	322	0.0311	-15	c.201 others(34): Show c.201-23321_201-23307delTTTTTTTTTTTTTTT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1749386	AACTTTAT others(8): Show AACTTTATTTCCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0006 a0001c0041t0006	a0001c0041t0006g0045 a0001c0041t0006g0045	1	322	0.0031	-15	c.-49 others(26): Show c.-4946_-4932delGCCAGGAAATAAAGT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding		4872		chr2	TogoVar
PXK_chr3_58327892_58431127	58336059	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	300	0.0033	-15	c.102 others(32): Show c.102+2971_102+2985delATATATATATATTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP2_chr12_132682587_132709985	132689289	GGGCGCGG others(8): Show GGGCGCGGGTCCGCAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	350	0.0029	-15	c.123 others(30): Show c.123-964_123-950delCCGCACGGCGCGGGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXT1_chr6_36385551_36447854	36426355	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	390	0.0026	-15	c.-9- others(28): Show c.-9-279_-9-265delAAAAAAAAAAAAAAA	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PYDC1_chr16_31210962_31222135	31220456	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	-15	c.-34 others(26): Show c.-3443_-3429delAAAAAAAAAAAAAAA	PYDC1	ENSG00000169900.8	transcript	ENST00000302964.4	protein_coding		3322		chr16	TogoVar
PYHIN1_chr1_158926552_158982059	158976885	TATATATA others(8): Show TATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0299 a0001c0001t0026g0299	1	398	0.0025	-15	c.19 others(24): Show c.191_*205delATATATATATATATA	PYHIN1	ENSG00000163564.15	transcript	ENST00000368140.6	protein_coding	9/9	3120		chr1	TogoVar
PYROXD2_chr10_98378568_98420182	98401282	ATAGAAAA others(8): Show ATAGAAAAGGTACATT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	2	418	0.0048	-15	c.316 others(32): Show c.316-1040_316-1026delAATGTACCTTTTCTA	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	4/15			chr10	TogoVar
PYURF_chr4_88515998_88528776	88516483	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02523.hp1 HG01993.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0001t0001g0001 a0001c0002t0001g0003	2	446	0.0045	-15	c.53 others(26): Show c.5390_*5404delTTTTTTTTTTTTTTT	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		4514		chr4	TogoVar
PYURF_chr4_88515998_88528776	88518797	GTTACAGG others(8): Show GTTACAGGCTCCCAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(153): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0003g0022 a0001c0002t0001g0003 a0001c0002t0001g0012 a0002c0004t0001g0017	156	446	0.3498	-15	c.30 others(26): Show c.3076_*3090delTTTGGGAGCCTGTAA	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		2200		chr4	TogoVar
PZP_chr12_9143840_9213395	9165573	ACAAATGA others(8): Show ACAAATGATCATATCC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0001 a0009c0006t0001	a0009c0006t0001g0080 a0009c0006t0001g0080	1	334	0.0030	-15	c.225 others(32): Show c.2259-221_2259-207delGGATATGATCATTTG	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	18/35			chr12	TogoVar
QARS1_chr3_49090932_49109757	49096798	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	284	0.0035	-15	c.227 others(32): Show c.2278-734_2278-720delTTTTTTTTTTTTTTT	QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23			chr3	TogoVar
QKI_chr6_163409718_163583592	163415025	GCGCGGTG others(8): Show GCGCGGTGCCGGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01891.hp1 others(11): Show HG01109.hp2 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02976.hp1 HG03209.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0031 others(2): Show a0001c0001t0016 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0016g0223 a0001c0001t0016g0224 a0001c0001t0016g0227 others(11): Show a0001c0001t0016g0223 a0001c0001t0016g0224 a0001c0001t0016g0227 a0001c0001t0016g0229 a0001c0001t0017g0066 a0001c0001t0017g0101 a0001c0001t0017g0103 a0001c0001t0017g0225 a0001c0001t0031g0226 a0001c0001t0031g0228 a0001c0001t0032g0007 a0001c0001t0032g0008 a0001c0001t0033g0100 a0001c0001t0033g0102	14	302	0.0464	-15	c.-16 others(24): Show c.-167_-153delGCGGTGCCGGCCGCC	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	1/8	153	INFO_REALIGN_3_PRIME	chr6	TogoVar
QKI_chr6_163409718_163583592	163510217	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp2 HG02055.hp1 others(24): Show HG01258.hp2 HG01358.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03516.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 others(11): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039 a0001c0001t0046 a0001c0001t0047 a0001c0001t0059 a0001c0001t0062 a0001c0001t0068 a0001c0001t0070 a0001c0001t0088 a0001c0001t0094 a0001c0001t0099	a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0045 others(24): Show a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0075 a0001c0001t0009g0077 a0001c0001t0019g0061 a0001c0001t0019g0097 a0001c0001t0019g0243 a0001c0001t0019g0244 a0001c0001t0023g0119 a0001c0001t0023g0120 a0001c0001t0023g0121 a0001c0001t0025g0035 a0001c0001t0025g0068 a0001c0001t0039g0072 a0001c0001t0039g0234 a0001c0001t0046g0079 a0001c0001t0046g0080 a0001c0001t0047g0073 a0001c0001t0047g0078 a0001c0001t0059g0032 a0001c0001t0062g0255 a0001c0001t0068g0038 a0001c0001t0070g0063 a0001c0001t0088g0044 a0001c0001t0094g0076 a0001c0001t0099g0125	27	302	0.0894	-15	c.403 others(34): Show c.403-24735_403-24721delTAATAATAATAATAA	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
QKI_chr6_163409718_163583592	163570654	CTTTTTTT others(8): Show CTTTTTTTTGTTTTGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0153 a0001c0001t0015g0153	1	302	0.0033	-15	c.101 others(30): Show c.1010-27_1010-13delTGTTTTTTTTTGTTT	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
QNG1_chr9_83933311_83961742	83943331	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0151 a0001c0001t0008g0151	1	394	0.0025	-15	c.793 others(32): Show c.793+1448_793+1462delTTTTTTTTTTTTTTT	QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding	3/3			chr9	TogoVar
QNG1_chr9_83933311_83961742	83954879	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0139 a0003c0004t0021g0139	1	394	0.0025	-15	c.597 others(30): Show c.597+487_597+501delTTTTTTTTTTTTTTT	QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding	2/3			chr9	TogoVar
QRFPR_chr4_121323642_121386018	121376931	CAGGTTTT others(8): Show CAGGTTTTGACTCAAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG02015.hp2 others(17): Show HG00423.hp2 HG00639.hp1 HG02015.hp2 HG02258.hp1 HG02602.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18964.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19007.hp2 NA19064.hp1 NA19075.hp2 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0337 a0003c0004t0006g0338 a0003c0004t0006g0339 others(17): Show a0003c0004t0006g0337 a0003c0004t0006g0338 a0003c0004t0006g0339 a0003c0004t0006g0340 a0003c0004t0006g0341 a0003c0004t0006g0342 a0003c0004t0006g0343 a0003c0004t0006g0344 a0003c0004t0006g0345 a0003c0004t0006g0346 a0003c0004t0006g0347 a0003c0004t0006g0348 a0003c0004t0006g0349 a0003c0004t0006g0350 a0003c0004t0006g0351 a0003c0004t0006g0352 a0003c0004t0006g0353 a0003c0004t0006g0354 a0003c0004t0006g0355 a0003c0004t0006g0356	20	384	0.0521	-15	c.340 others(32): Show c.340+3362_340+3376delATTGAGTCAAAACCT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRFP_chr9_130887707_130901812	130898817	ACCTCTGC others(8): Show ACCTCTGCCCCTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02896.hp2 others(2): Show HG01884.hp2 HG02055.hp1 HG02896.hp2 HG03041.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0005 a0004c0007t0001 a0004c0007t0005 a0001c0003t0005 a0004c0007t0001 a0004c0007t0005	a0001c0003t0005g0030 a0004c0007t0001g0061 a0004c0007t0005g0031 a0001c0003t0005g0030 a0004c0007t0001g0061 a0004c0007t0005g0031	5	428	0.0117	-15	c.-25 others(26): Show c.-2541_-2527delAGGGAGGGGCAGAGG	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		2006		chr9	TogoVar
QRFP_chr9_130887707_130901812	130898900	TCCTCCTC others(8): Show TCCTCCTCTGCTCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01346.hp1 HG00735.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	-15	c.-26 others(26): Show c.-2624_-2610delGAGGAGCAGAGGAGG	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		2089		chr9	TogoVar
QRICH1_chr3_49024707_49099071	49096798	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0095	1	226	0.0044	-15	c.-29 others(26): Show c.-2923_-2909delTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding		2728		chr3	TogoVar

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