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
PTPRQ_chr12_80439235_80685273	80558118	T T	TTCTTTTC others(10): Show TTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0012 a0012	a0012c0069 a0012c0069	a0012c0069t0005 a0012c0069t0005	a0012c0069t0005g0092 a0012c0069t0005g0092	1	167	0.0060	17	c.428 others(36): Show c.4285+8384_4285+8385insTCTTTTCTTTTCTTTTC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44			chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG02074.hp2 others(4): Show HG00140.hp2 HG01069.hp1 HG02074.hp2 HG02083.hp1 NA18941.hp1 NA18968.hp2 NA20905.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0007 a0007c0008 a0001c0001 a0006c0007 a0007c0008	a0001c0001t0001 a0006c0007t0001 a0007c0008t0001 a0001c0001t0001 a0006c0007t0001 a0007c0008t0001	a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0194 a0006c0007t0001g0073 a0007c0008t0001g0062	7	12	0.5833	17	c.358 others(36): Show c.358-56452_358-56436dupAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRR_chr12_70633079_70925738	70872694	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	85	0.0118	17	c.357 others(36): Show c.357+19968_357+19984dupTTTTTTTTTTTTTTTTT	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5203846	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0163 a0001c0053t0001g0163	1	42	0.0238	17	c.29 others(28): Show c.2911_*2927dupAAAAAAAAAAAAAAAAA	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding		1661		chr19	TogoVar
PTPRS_chr19_5200508_5345812	5233946	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0171 a0001c0014t0001g0171	1	22	0.0455	17	c.185 others(36): Show c.1850-2348_1850-2332dupTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	13/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5272595	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG00639.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0178 a0001c0001t0001g0107 a0001c0001t0001g0178	2	15	0.1333	17	c.379 others(32): Show c.379+830_379+846dupTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37			chr19	TogoVar
PTPRU_chr1_29231522_29331800	29260103	A A	ACGGGGGC others(10): Show ACGGGGGCGGGCTCTGCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0252 a0001c0005t0004g0252	1	294	0.0034	17	c.850 others(30): Show c.850+68_850+84dupGGCTCTGCCCGGGGGCG	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRZ1_chr7_121868161_122067036	121891451	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02258.hp2 HG03139.hp2 HG01258.hp2 HG02258.hp2 HG03139.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0001 a0007c0016t0004 a0001c0001t0001 a0007c0016t0004	a0001c0001t0001g0111 a0007c0016t0004g0212 a0007c0016t0004g0213 a0001c0001t0001g0111 a0007c0016t0004g0212 a0007c0016t0004g0213	3	85	0.0353	17	c.58+ others(34): Show c.58+17908_58+17924dupTTTTTTTTTTTTTTTTT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1_chr5_160416855_160433739	160431188	C C	CTAGTTTT others(10): Show CTAGTTTTCTCATACGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp1 others(80): Show HG00408.hp1 HG00423.hp2 HG00609.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18961.hp2 NA18967.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18976.hp2 NA18984.hp1 NA18990.hp2 NA18999.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19075.hp2 NA19082.hp1 NA19083.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0002g0016 a0001c0002t0001g0011 a0001c0002t0001g0036 a0001c0002t0001g0049	83	465	0.1785	17	c.25 others(28): Show c.2507_*2508insTAGTTTTCTCATACGCA	PTTG1	ENSG00000164611.13	transcript	ENST00000352433.10	protein_coding		2450		chr5	TogoVar
PTTG1_chr5_160416855_160433739	160431188	C C	CTAGTTTT others(10): Show CTAGTTTTCTCATATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	383	0.0026	17	c.25 others(28): Show c.2507_*2508insTAGTTTTCTCATATGCA	PTTG1	ENSG00000164611.13	transcript	ENST00000352433.10	protein_coding		2450		chr5	TogoVar
PUM1_chr1_30926506_31070717	30942191	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	24	0.0417	17	c.299 others(32): Show c.2995-69_2995-68insTATATATATATATATAT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	18/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30995474	A A	ATTTTCTT others(10): Show ATTTTCTTCCTTCCTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp2 HG03225.hp1 others(1): Show HG01069.hp1 HG02055.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0007 a0001c0005t0007 a0001c0002t0007 a0001c0005t0007	a0001c0002t0007g0032 a0001c0005t0007g0033 a0001c0005t0007g0034 others(1): Show a0001c0002t0007g0032 a0001c0005t0007g0033 a0001c0005t0007g0034 a0001c0005t0007g0174	4	332	0.0120	17	c.721 others(32): Show c.721-271_721-255dupAAAAGGAAGGAAGAAAA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30999606	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	5	0.2000	17	c.721 others(34): Show c.721-4403_721-4387dupTTTTTTTTTTTTTTTTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038982	A A	ATTATTTT others(10): Show ATTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	326	0.0031	17	c.364 others(36): Show c.364-10119_364-10118insAAAAAAAAAAAAAATAA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0302	1	94	0.0106	17	c.364 others(36): Show c.364-10121_364-10120insAAAAAAATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	94	0.0106	17	c.364 others(36): Show c.364-10121_364-10120insAAAAAAAAAAATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038985	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03834.hp1 HG02735.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0256 a0001c0002t0001g0103 a0001c0002t0001g0256	2	310	0.0065	17	c.364 others(36): Show c.364-10122_364-10121insTATATATATATATATAT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	24	0.0417	17	c.222 others(34): Show c.2226-945_2226-929dupTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20261421	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20129.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0014g0030 a0001c0001t0014g0031	2	355	0.0056	17	c.222 others(34): Show c.2226-956_2226-955insACACTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264363	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	309	0.0032	17	c.195 others(34): Show c.1958-904_1958-903insATATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG01256.hp2 others(10): Show HG00099.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02165.hp1 HG02280.hp2 HG02717.hp2 HG02897.hp2 HG03017.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0001g0193 a0001c0001t0001g0195 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0048 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0004g0062 a0001c0001t0005g0094 a0001c0001t0005g0236	13	18	0.7222	17	c.195 others(36): Show c.1957+3609_1957+3625dupTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp2 NA18906.hp2 HG02257.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0071 a0001c0005t0001g0073 a0001c0005t0001g0075 a0001c0005t0001g0071 a0001c0005t0001g0073 a0001c0005t0001g0075	3	179	0.0168	17	c.118 others(36): Show c.1189-1362_1189-1346dupTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0059 a0002c0002t0059	a0002c0002t0059g0068 a0002c0002t0059g0068	1	193	0.0052	17	c.11 others(30): Show c.11568_*11569insATATATATATATATTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0065 a0002c0002t0034g0065	1	193	0.0052	17	c.11 others(30): Show c.11568_*11569insATATATATATATATATA	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456066	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	330	0.0030	17	c.17 others(28): Show c.1723_*1724insATATATATATATATATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		436		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	132	0.0076	17	c.17 others(28): Show c.1713_*1714insATATATATATATATTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAATATAT others(10): Show AAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG06807.hp1 HG02717.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0239 a0001c0001t0014g0240 a0001c0001t0003g0239 a0001c0001t0014g0240	2	133	0.0150	17	c.17 others(28): Show c.1713_*1714insATATATATATATATATT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	132	0.0076	17	c.17 others(28): Show c.1713_*1714insATATATATATATATATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	8	0.1250	17	c.-32 others(32): Show c.-32-657_-32-641dupTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105517166	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00735.hp2 others(21): Show HG00099.hp2 HG00423.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01257.hp2 HG01515.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02109.hp1 HG02630.hp1 HG02683.hp2 HG03491.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 others(21): Show a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0016g0311	24	341	0.0704	17	c.-33 others(34): Show c.-33+4885_-33+4886insAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUSL1_chr1_1303597_1316677	1313536	C C	CCGGAAGA others(10): Show CCGGAAGATCTGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	350	0.0029	17	c.21 others(28): Show c.2157_*2158insCGGAAGATCTGCAGGGA	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding		1860		chr1	TogoVar
PWP1_chr12_107680799_107718162	107688030	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	92	0.0109	17	c.73- others(30): Show c.73-404_73-388dupAAAAAAAAAAAAAAAAA	PWP1	ENSG00000136045.12	transcript	ENST00000412830.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PWWP2A_chr5_160086339_160124450	160109774	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19081.hp2 NA18949.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0166 a0001c0001t0001g0002 a0001c0001t0001g0166	2	282	0.0071	17	c.584 others(34): Show c.584+9030_584+9031insATATATATATATATATA	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01496.hp1 others(12): Show HG00673.hp1 HG01070.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG02922.hp1 HG03130.hp1 HG03492.hp1 HG03492.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp1 NA19086.hp1 NA19088.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0015 a0031	a0001c0001 a0003c0033 a0006c0007 others(2): Show a0001c0001 a0003c0033 a0006c0007 a0015c0009 a0031c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0033t0001 a0006c0007t0001 a0015c0009t0001 a0031c0031t0002	a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0072 others(12): Show a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0003g0013 a0003c0033t0001g0036 a0006c0007t0001g0029 a0006c0007t0001g0031 a0015c0009t0001g0086 a0031c0031t0002g0121	15	69	0.2174	17	c.983 others(34): Show c.983-1347_983-1331dupTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51486794	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0030 a0030	a0030c0042 a0030c0042	a0030c0042t0001 a0030c0042t0001	a0030c0042t0001g0044 a0030c0042t0001g0044	1	63	0.0159	17	c.453 others(34): Show c.453-3081_453-3080insAAAAAAATATATATATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51520398	G G	GCGGGGAA others(10): Show GCGGGGAAGGGACTGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03669.hp1 HG03669.hp2 others(3): Show HG03098.hp2 HG03669.hp1 HG03669.hp2 NA18956.hp2 NA19003.hp1 NA19086.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0016 a0034	a0001c0011 a0002c0021 a0003c0003 others(2): Show a0001c0011 a0002c0021 a0003c0003 a0016c0025 a0034c0029	a0001c0011t0002 a0002c0021t0002 a0003c0003t0001 others(2): Show a0001c0011t0002 a0002c0021t0002 a0003c0003t0001 a0016c0025t0001 a0034c0029t0001	a0001c0011t0002g0099 a0002c0021t0002g0092 a0003c0003t0001g0021 others(3): Show a0001c0011t0002g0099 a0002c0021t0002g0092 a0003c0003t0001g0021 a0003c0003t0001g0082 a0016c0025t0001g0027 a0034c0029t0001g0055	6	120	0.0500	17	c.381 others(36): Show c.381-20629_381-20628insACCCAGTCCCTTCCCCG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51591518	T T	TTGTTAGC others(10): Show TTGTTAGCTCTGTAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG01517.hp2 others(5): Show HG00438.hp2 HG01256.hp2 HG01517.hp2 HG02155.hp2 HG02735.hp1 NA18959.hp2 NA18966.hp2 NA19003.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0020	a0001c0001 a0001c0032 a0002c0002 others(2): Show a0001c0001 a0001c0032 a0002c0002 a0006c0007 a0020c0038	a0001c0001t0001 a0001c0032t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0032t0002 a0002c0002t0002 a0006c0007t0001 a0020c0038t0002	a0001c0001t0001g0034 a0001c0032t0002g0106 a0002c0002t0002g0103 others(5): Show a0001c0001t0001g0034 a0001c0032t0002g0106 a0002c0002t0002g0103 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0006c0007t0001g0031 a0020c0038t0002g0119	8	120	0.0667	17	c.308 others(34): Show c.308+1108_308+1109insTCTTTACAGAGCTAACA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1710586	C C	CCTCTCCA others(10): Show CCTCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(84): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01243.hp2 HG01255.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 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 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 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 a0003 a0010 others(1): Show a0001 a0003 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0014 a0001c0016 a0001c0022 a0001c0026 a0001c0032 a0001c0033 a0001c0039 a0001c0040 a0001c0044 a0003c0018 a0010c0043 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0004t0004 a0001c0006t0008 a0001c0008t0002 a0001c0014t0013 a0001c0016t0005 a0001c0022t0014 a0001c0026t0001 a0001c0032t0028 a0001c0033t0001 a0001c0039t0006 a0001c0040t0030 a0001c0044t0025 a0003c0018t0005 a0010c0043t0006 a0012c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0173 a0001c0001t0001g0176 others(84): Show a0001c0001t0001g0034 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0005g0175 a0001c0001t0009g0178 a0001c0001t0009g0180 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0019g0242 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0097 a0001c0002t0003g0131 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0008g0305 a0001c0003t0012g0255 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0006t0008g0315 a0001c0008t0002g0298 a0001c0014t0013g0145 a0001c0016t0005g0001 a0001c0022t0014g0047 a0001c0026t0001g0261 a0001c0032t0028g0046 a0001c0033t0001g0216 a0001c0039t0006g0045 a0001c0040t0030g0088 a0001c0044t0025g0210 a0003c0018t0005g0048 a0010c0043t0006g0062 a0012c0021t0002g0251	87	306	0.2843	17	c.201 others(36): Show c.201-17469_201-17453dupTGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710729	C C	CCTCTCCA others(10): Show CCTCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0245 a0001c0004t0004g0245	1	271	0.0037	17	c.201 others(36): Show c.201-17612_201-17596dupTGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711156	G G	GCTCCACC others(10): Show GCTCCACCAGCACCCACT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0161 a0001c0005t0007g0161	1	229	0.0044	17	c.201 others(36): Show c.201-18039_201-18023dupAGTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTGTG others(10): Show TTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp2 HG01168.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0102 a0001c0001t0001g0125	2	116	0.0172	17	c.202 others(34): Show c.202-4001_202-4000insTTTGTGTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTG others(10): Show TTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18946.hp1 NA19080.hp1 HG03239.hp2 NA18946.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0137	3	117	0.0256	17	c.202 others(34): Show c.202-4001_202-4000insTTTTTGTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	208	0.0048	17	c.113 others(34): Show c.113+2439_113+2455dupTTTTTTTTTTTTTTTTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PYCARD_chr16_31196486_31207760	31205998	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	351	0.0028	17	c.-33 others(28): Show c.-3309_-3308insAGAAAGAAAGAAAGAAA	PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding		3239		chr16	TogoVar
PYDC2_chr3_191456163_191466456	191463105	C C	CCCTCCCT others(10): Show CCCTCCCTCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	17	c.16 others(28): Show c.1649_*1650insCCTCCCTCCCTCCCCCT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1650		chr3	TogoVar
PYGO1_chr15_55533884_55593345	55548707	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0117 a0001c0001t0018g0117	1	22	0.0455	17	c.135 others(32): Show c.135+186_135+202dupTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	2/2			chr15	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0325 a0001c0001t0004g0326	2	68	0.0294	17	c.49+ others(34): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYURF_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	37	0.0270	17	c.54 others(28): Show c.5404_*5405insTTTTTTTTTTTTTTTTT	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		4514		chr4	TogoVar
PYY_chr17_43947733_43958940	43947898	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	322	0.0031	17	c.50 others(28): Show c.5057_*5058insTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4834		chr17	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01069.hp1 others(17): Show HG00558.hp2 HG00597.hp2 HG01069.hp1 HG01952.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02486.hp2 HG02738.hp1 HG03471.hp1 HG03540.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18966.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0002c0002t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0002c0002t0001g0001	20	160	0.1250	17	c.-43 others(28): Show c.-4303_-4287dupTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar

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