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
PUM1_chr1_30926506_31070717	31067157	T T	TATATATA others(11): Show TATATATACACATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	334	0.0030	18	c.-15 others(29): Show c.-1554_-1553insGCATATATGTGTATATAT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding		1441		chr1	TogoVar
PUM1_chr1_30926506_31070717	31067175	C C	CATATATA others(11): Show CATATATACACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	334	0.0030	18	c.-15 others(29): Show c.-1572_-1571insATATATATGTGTATATAT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding		1459		chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02698.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG02698.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0007g0171	4	358	0.0112	18	c.222 others(35): Show c.2226-946_2226-929dupTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01975.hp2 others(5): Show HG00735.hp2 HG00741.hp2 HG01975.hp2 HG02109.hp2 HG02895.hp1 NA18939.hp1 NA19043.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0002g0059 others(5): Show a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0004g0041 a0001c0001t0004g0077 a0001c0001t0005g0236	8	358	0.0224	18	c.195 others(37): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20332282	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02004.hp2 HG01884.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0085 a0001c0001t0007g0182 a0001c0001t0001g0085 a0001c0001t0007g0182	2	358	0.0056	18	c.-18 others(35): Show c.-18-4922_-18-4905dupACACACACACACACACAC	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG06807.hp2 HG01243.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0001 a0001c0005t0001 a0002c0002t0001	a0001c0005t0001g0137 a0002c0002t0001g0054 a0001c0005t0001g0137 a0002c0002t0001g0054	2	420	0.0048	18	c.118 others(37): Show c.1189-1363_1189-1346dupTTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS1_chr12_131924276_131950896	131927112	G G	GGAGAGGG others(11): Show GGAGAGGGAGAGCGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00741.hp2 others(40): Show HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01978.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02735.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03942.hp1 HG06807.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp2 NA18967.hp2 NA18974.hp1 NA18975.hp1 NA18984.hp1 NA19010.hp2 NA19043.hp2 NA19080.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0029 a0001c0001t0032 a0002c0002t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0004g0002 a0001c0001t0006g0153 a0001c0001t0009g0002 a0001c0001t0009g0019 a0001c0001t0010g0001 a0001c0001t0012g0008 a0001c0001t0012g0152 a0001c0001t0013g0008 a0001c0001t0021g0013 a0001c0001t0029g0052 a0001c0001t0032g0131 a0002c0002t0011g0033 a0002c0002t0011g0090 a0002c0002t0011g0091 a0002c0002t0011g0138	43	382	0.1126	18	c.-26 others(29): Show c.-2611_-2610insGAGAGGGAGAGCGAGAGC	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding		2163		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718805	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	306	0.0033	18	c.11 others(31): Show c.11570_*11571insATATATATATATATATAT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		186		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0237 a0002c0002t0003g0237	1	306	0.0033	18	c.11 others(31): Show c.11568_*11569insATATATATATATATTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAATATA others(11): Show AAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0109 a0002c0002t0049g0109	1	306	0.0033	18	c.11 others(31): Show c.11568_*11569insATATATATATATATATTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	306	0.0033	18	c.11 others(31): Show c.11568_*11569insATATATATATATATATAT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455574	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	350	0.0029	18	c.22 others(29): Show c.2215_*2216insATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		928		chr7	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA19000.hp2 NA20300.hp1 HG01975.hp2 NA19000.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0148 a0001c0001t0001g0272 a0001c0001t0001g0097 a0001c0001t0001g0148 a0001c0001t0001g0272	3	350	0.0086	18	c.21 others(29): Show c.2196_*2213dupATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	350	0.0029	18	c.17 others(29): Show c.1713_*1714insATATATATATATATTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAATATA others(11): Show AAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	350	0.0029	18	c.17 others(29): Show c.1713_*1714insATATATATATATATATTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(11): Show TATATATATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	350	0.0029	18	c.16 others(29): Show c.1687_*1688insTTATATTTATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PUS7_chr7_105451503_105527271	105496218	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19065.hp2 NA18945.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	350	0.0057	18	c.731 others(33): Show c.731-966_731-965insCTCTCTCTCTCTCTCTCT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105496224	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	350	0.0029	18	c.731 others(33): Show c.731-972_731-971insCTCTCTCTCTCTCTCTCT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105496226	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	350	0.0029	18	c.731 others(33): Show c.731-991_731-974dupCTCTCTCTCTCTCTCTCT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	350	0.0029	18	c.585 others(33): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	350	0.0029	18	c.-32 others(33): Show c.-32-658_-32-641dupTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105517166	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01517.hp2 HG02056.hp2 others(4): Show HG01256.hp1 HG01517.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp1 HG03669.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 others(4): Show a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0017g0330	7	350	0.0200	18	c.-33 others(35): Show c.-33+4885_-33+4886insAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUSL1_chr1_1303597_1316677	1308546	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	18	c.-98 others(25): Show c.-98_-97insGGGGGGGGGGGGGGGGGG	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding		50		chr1	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTGTTTTT others(11): Show GTGTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	421	0.0024	18	c.-47 others(29): Show c.-4784_-4783insAAAAAAAAAAAAAAAACA	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4754		chr22	TogoVar
PVR_chr19_44638910_44671162	44645415	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18952.hp1 NA19083.hp1 NA18942.hp1 NA18952.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0124	3	412	0.0073	18	c.79+ others(33): Show c.79+1253_79+1270dupTATATATATATATATATA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWP1_chr12_107680799_107718162	107688030	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	342	0.0029	18	c.73- others(31): Show c.73-405_73-388dupAAAAAAAAAAAAAAAAAA	PWP1	ENSG00000136045.12	transcript	ENST00000412830.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PWWP2A_chr5_160086339_160124450	160092013	G G	GATATATA others(11): Show GATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(42): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01433.hp2 HG01884.hp2 HG02015.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03654.hp2 HG03834.hp2 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18954.hp1 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18981.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19058.hp1 NA19063.hp1 NA19080.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0005 a0001c0001 a0001c0009 a0003c0005	a0001c0001t0002 a0001c0001t0037 a0001c0001t0047 others(2): Show a0001c0001t0002 a0001c0001t0037 a0001c0001t0047 a0001c0009t0002 a0003c0005t0057	a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0023 others(42): Show a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0283 a0001c0001t0002g0294 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0037g0194 a0001c0001t0047g0019 a0001c0009t0002g0209 a0003c0005t0057g0377	45	384	0.1172	18	c.36 others(27): Show c.368_*369insATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	2/2	368		chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109772	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18962.hp2 NA19077.hp1 HG02071.hp2 NA18962.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0177	3	384	0.0078	18	c.584 others(35): Show c.584+9032_584+9033insATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109774	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	384	0.0026	18	c.584 others(35): Show c.584+9030_584+9031insATATATATATATATATTT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109774	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18941.hp2 NA18979.hp1 others(1): Show HG01515.hp2 NA18941.hp2 NA18979.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 a0001c0001t0001 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0077 a0001c0001t0001g0178 a0001c0001t0012g0157 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0178 a0001c0001t0012g0157 a0002c0002t0001g0360	4	384	0.0104	18	c.584 others(35): Show c.584+9013_584+9030dupATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP3A_chr19_1349959_1383429	1379799	C C	CCATGTCC others(11): Show CCATGTCCCTGCCAATGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0121 a0002c0003t0021g0121	1	412	0.0024	18	c.32 others(29): Show c.3223_*3224insCATGTCCCTGCCAATGCT	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding		1371		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51377143	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0001 a0022c0042t0001	a0022c0042t0001g0044 a0022c0042t0001g0044	1	122	0.0082	18	c.355 others(37): Show c.3558-2413_3558-2412insTTGTGTGTGTGTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	17/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51452935	A A	AACACATA others(11): Show AACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01169.hp2 HG01256.hp1 others(11): Show HG00673.hp1 HG01169.hp2 HG01256.hp1 HG02145.hp1 HG02155.hp2 HG02486.hp2 HG02735.hp1 NA18747.hp2 NA18948.hp1 NA18948.hp2 NA18984.hp1 NA19043.hp1 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0032 a0001c0046 a0001c0001 a0001c0032 a0001c0046	a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 a0001c0046t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0034 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0032t0002g0106 a0001c0046t0001g0020	14	122	0.1148	18	c.124 others(35): Show c.1249+583_1249+584insGTGTGTGTGTGTATGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	10/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG02145.hp1 others(6): Show HG01243.hp1 HG01256.hp1 HG02145.hp1 HG02735.hp1 HG02965.hp1 NA18979.hp2 NA19043.hp1 NA19056.hp1 NA20129.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0007 a0013c0030 a0001c0001 a0007c0007 a0013c0030	a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 a0013c0030t0002	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0002g0103 a0001c0001t0002g0110 a0007c0007t0002g0099 a0013c0030t0002g0105	9	122	0.0738	18	c.983 others(35): Show c.983-1348_983-1331dupTTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51473274	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02735.hp1 NA18947.hp1 others(2): Show HG01975.hp1 HG02735.hp1 NA18947.hp1 NA18948.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0002g0116	5	122	0.0410	18	c.695 others(33): Show c.695-988_695-971dupGTGTGTGTGTGTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	7/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51533482	T T	TCCCTCCC others(11): Show TCCCTCCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0027 a0015c0025t0001g0027	1	122	0.0082	18	c.380 others(37): Show c.380+23340_380+23357dupGGAGGGGGAGGGGGAGGG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51553771	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0076 a0004c0004t0001g0076	1	122	0.0082	18	c.380 others(35): Show c.380+3068_380+3069insGTATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51589513	G G	GTAAATAT others(11): Show GTAAATATTTTACTACTAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG03669.hp2 others(1): Show HG02258.hp1 HG03486.hp1 HG03669.hp2 NA18956.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0011 a0002c0002 a0003c0003 others(1): Show a0001c0011 a0002c0002 a0003c0003 a0015c0044	a0001c0011t0002 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0011t0002 a0002c0002t0001 a0003c0003t0001 a0015c0044t0001	a0001c0011t0002g0100 a0002c0002t0001g0039 a0003c0003t0001g0021 others(1): Show a0001c0011t0002g0100 a0002c0002t0001g0039 a0003c0003t0001g0021 a0015c0044t0001g0061	4	122	0.0328	18	c.308 others(35): Show c.308+3113_308+3114insTTAGTAGTAAAATATTTA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51608002	G G	GAAGAAAG others(11): Show GAAGAAAGAAAGAAAGAGA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0082 a0003c0003t0001g0082	1	122	0.0082	18	c.237 others(37): Show c.237-15305_237-15304insTCTCTTTCTTTCTTTCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644318	T T	TTATACAT others(11): Show TTATACATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	122	0.0082	18	c.236 others(37): Show c.236+10370_236+10371insTATATATATATATGTATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644318	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp1 others(3): Show HG01070.hp1 HG01167.hp1 HG01169.hp1 HG02559.hp1 HG02615.hp2 NA18959.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0010 a0018	a0001c0001 a0003c0033 a0006c0006 others(2): Show a0001c0001 a0003c0033 a0006c0006 a0010c0009 a0018c0049	a0001c0001t0002 a0003c0033t0001 a0006c0006t0001 others(2): Show a0001c0001t0002 a0003c0033t0001 a0006c0006t0001 a0010c0009t0001 a0018c0049t0003	a0001c0001t0002g0095 a0001c0001t0002g0096 a0003c0033t0001g0035 others(3): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0003c0033t0001g0035 a0006c0006t0001g0042 a0010c0009t0001g0086 a0018c0049t0003g0014	6	122	0.0492	18	c.236 others(37): Show c.236+10370_236+10371insTATATATATATATATATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644405	C C	CATATGTA others(11): Show CATATGTATATATATACAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00741.hp1 others(49): Show HG00438.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01975.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03209.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18956.hp1 NA18959.hp1 NA18984.hp1 NA19003.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0016 a0018 a0021 a0022 a0025 a0027 a0028 a0029 a0030 a0033	a0001c0001 a0001c0032 a0002c0002 others(24): Show a0001c0001 a0001c0032 a0002c0002 a0002c0021 a0002c0037 a0003c0003 a0003c0033 a0004c0004 a0005c0015 a0005c0027 a0006c0006 a0007c0007 a0009c0012 a0009c0045 a0010c0009 a0012c0013 a0013c0030 a0016c0010 a0018c0049 a0021c0022 a0022c0042 a0025c0034 a0027c0031 a0028c0038 a0029c0039 a0030c0040 a0033c0036	a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 a0002c0021t0002 a0002c0037t0001 a0003c0003t0001 a0003c0003t0002 a0003c0033t0001 a0004c0004t0001 a0005c0015t0001 a0005c0027t0005 a0006c0006t0001 a0007c0007t0002 a0009c0012t0003 a0009c0045t0001 a0010c0009t0001 a0012c0013t0001 a0013c0030t0002 a0016c0010t0002 a0018c0049t0003 a0021c0022t0003 a0022c0042t0001 a0025c0034t0002 a0027c0031t0002 a0028c0038t0002 a0029c0039t0002 a0030c0040t0001 a0033c0036t0001	a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0089 others(49): Show a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0032t0002g0106 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0073 a0002c0021t0002g0092 a0002c0037t0001g0087 a0003c0003t0001g0051 a0003c0003t0001g0082 a0003c0003t0002g0107 a0003c0033t0001g0035 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0005c0015t0001g0030 a0005c0027t0005g0033 a0006c0006t0001g0042 a0006c0006t0001g0043 a0006c0006t0001g0045 a0006c0006t0001g0046 a0007c0007t0002g0099 a0009c0012t0003g0012 a0009c0045t0001g0052 a0010c0009t0001g0086 a0012c0013t0001g0058 a0013c0030t0002g0105 a0016c0010t0002g0094 a0018c0049t0003g0014 a0021c0022t0003g0004 a0022c0042t0001g0044 a0025c0034t0002g0122 a0027c0031t0002g0121 a0028c0038t0002g0119 a0029c0039t0002g0120 a0030c0040t0001g0060 a0033c0036t0001g0091	52	122	0.4262	18	c.236 others(37): Show c.236+10283_236+10284insATGTATATATATACATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51683164	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18966.hp1 HG01169.hp2 NA18966.hp1	a0001 a0003 a0001 a0003	a0001c0046 a0003c0003 a0001c0046 a0003c0003	a0001c0046t0001 a0003c0003t0001 a0001c0046t0001 a0003c0003t0001	a0001c0046t0001g0020 a0003c0003t0001g0081 a0001c0046t0001g0020 a0003c0003t0001g0081	2	122	0.0164	18	c.165 others(37): Show c.165-28422_165-28405dupATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1658083	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	322	0.0031	18	c.183 others(37): Show c.1837+2797_1837+2798insGGGGAGAGAGAGAGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1716440	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18952.hp1 NA19084.hp1 HG02165.hp2 NA18952.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0002t0003g0239 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0002t0003g0239	3	322	0.0093	18	c.201 others(37): Show c.201-23324_201-23307dupTTTTTTTTTTTTTTTTTT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1743665	A A	AGGGAGGA others(11): Show AGGGAGGAGGAGGAGGAAG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1 NA19087.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 a0001c0001t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0034 a0001c0002t0003g0004 a0001c0003t0001g0035 a0001c0001t0001g0034 a0001c0002t0003g0004 a0001c0003t0001g0035	3	322	0.0093	18	c.200 others(33): Show c.200+573_200+590dupCTTCCTCCTCCTCCTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1748123	C C	CCCCAGGC others(11): Show CCCCAGGCCATCCACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	322	0.0031	18	c.-36 others(29): Show c.-3669_-3668insAAGTGTGGATGGCCTGGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding		3609		chr2	TogoVar
PXK_chr3_58327892_58431127	58336038	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18987.hp2 NA18956.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	300	0.0067	18	c.102 others(35): Show c.102+2965_102+2982dupATATATATATATATATAT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378510	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	300	0.0033	18	c.202 others(35): Show c.202-4003_202-4002insGTGTGTGTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02056.hp1 HG01169.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0236 a0001c0001t0001g0170 a0001c0001t0001g0236	2	300	0.0067	18	c.202 others(35): Show c.202-4001_202-4000insTTGTGTGTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar

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