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
NLRP8_chr19_55942832_55993629	55993512	C C	CCCTCTCC others(189): Show CCCTCTCCCCCTCTCCCCCCCCTCTCCCCCCCCCTCTCCCCCCCCTCTCC CCCCCCTCCCCACCTCTCCCCCCTCTCCCCCCCCCCCCCCTCCCCCCCTC CCCCCTCTCCCCTCTCCCTCCTCCCCTCCCCTCCCCCTCTCCCCCTCCCC CCTCTCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0015 a0001c0002t0008g0015	1	343	0.0029	196	c.55 others(207): Show c.5599_*5600insCCTCTCCCCCTCTCCCCCCCCTCTCCCCCCCCCT CTCCCCCCCCTCTCCCCCCCCTCCCCACCTCTCCCCCCTCTCCCCCCCCC CCCCCTCCCCCCCTCCCCCCTCTCCCCTCTCCCTCCTCCCCTCCCCTCCC CCTCTCCCCCTCCCCCCTCTCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4884		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993575	C C	CACCTCCC others(189): Show CACCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCTCACCCTCCTCTCCTCCTCCCCTCCTCTCCTCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0022 a0016c0026t0022	a0016c0026t0022g0017 a0016c0026t0022g0017	1	338	0.0030	196	c.56 others(207): Show c.5662_*5663insACCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCTCACCCTCCTCTCCTCCTCCCCTCCT CTCCTCCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4947		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTCGGGG others(189): Show GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCAGGGTG GGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0085 a0001c0007t0005g0085	1	302	0.0033	196	c.140 others(213): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCTCCTGGGAGGGATC CTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NSL1_chr1_212721153_212796777	212779700	T T	TGCCCGGC others(189): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG03491.hp2 others(5): Show HG00738.hp2 HG00741.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG04199.hp1 NA18952.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0019 a0002c0002t0098 a0002c0002t0012 a0002c0002t0019 a0002c0002t0098	a0002c0002t0012g0270 a0002c0002t0012g0271 a0002c0002t0012g0272 others(4): Show a0002c0002t0012g0270 a0002c0002t0012g0271 a0002c0002t0012g0272 a0002c0002t0019g0011 a0002c0002t0019g0276 a0002c0002t0019g0277 a0002c0002t0098g0273	8	358	0.0223	196	c.499 others(213): Show c.499+2671_499+2672insGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGC	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(189): Show ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0033 a0001c0004t0005g0033	1	272	0.0037	196	c.489 others(213): Show c.489+2834_489+2835insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	952558	T T	TGGGGGGG others(189): Show TGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGGGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	203	0.0049	196	c.360 others(215): Show c.360+26760_360+26761insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCCCACAGTGTGA CCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TGTCTGACTCCAGCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AAAAGAAA others(189): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	220	0.0045	196	c.-18 others(205): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
OR52E6_chr11_5835928_5846897	5844216	T T	TTTATATA others(189): Show TTTATATATATTTTATATATAATATATATTATATATATTATATATATTAT ATATAATATATATTATATATATTATATATATAATATATATTATATATAAT ATATATTATATTATATATAATATATATTATATATATAATATATATAATAT ATATTATATATAATATATATAATATATATTATATATATTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02896.hp1 HG00639.hp1 HG02896.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0000 a0007c0008t0001g0000 a0001c0001t0001g0000 a0007c0008t0001g0000	2	188	0.0106	196	c.-23 others(207): Show c.-2320_-2319insTTATATATAATATATATAATATATATTATATATA TTATATATAATATATATTATATATATTATATATATAATATATATTATATA TAATATAATATATATTATATATAATATATATTATATATATAATATATATA ATATATATTATATATAATATATATAATATATATAATATATATTATATATA AAATATATATAA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2320		chr11	TogoVar
OR5B3_chr11_58397464_58411874	58397887	A A	AAAGTAAG others(189): Show AAAGTAAGGACATATTCTAAATAAAATAAAAACAAAACACAAACGATGAA CAATGTCAAAGGAACATAAGGCCTTCTGAAAGAGCTTCAAAGGATGAAAG TGGAAACATTGAGACCGAAAAAATTAAAACAAAAACCTAGTATTGCCTTA TAATCCAAAGTATAAAGTAAACAAACAAGAACACACTAATATAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(116): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18987.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0010	a0002c0002 a0002c0005 a0002c0011 others(3): Show a0002c0002 a0002c0005 a0002c0011 a0004c0004 a0008c0009 a0010c0010	a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 others(3): Show a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 a0004c0004t0001 a0008c0009t0001 a0010c0010t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(28): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0005t0001g0012 a0002c0005t0001g0040 a0002c0005t0001g0041 a0002c0005t0001g0042 a0002c0005t0001g0043 a0002c0011t0001g0031 a0004c0004t0001g0013 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0021 a0008c0009t0001g0033 a0010c0010t0001g0049	119	382	0.3115	196	c.45 others(207): Show c.4577_*4578insCATTTATATTAGTGTGTTCTTGTTTGTTTACTTT ATACTTTGGATTATAAGGCAATACTAGGTTTTTGTTTTAATTTTTTCGGT CTCAATGTTTCCACTTTCATCCTTTGAAGCTCTTTCAGAAGGCCTTATGT TCCTTTGACATTGTTCATCGTTTGTGTTTTGTTTTTATTTTATTTAGAAT ATGTCCTTACTT	OR5B3	ENSG00000172769.4	transcript	ENST00000641865.1	protein_coding		4576		chr11	TogoVar
OR5B3_chr11_58397464_58411874	58397887	A A	AAAGTAAG others(189): Show AAAGTAAGGACATATTCTAAATAAAATAAAAACAAAACACAAACGATGAA CAATGTCAAAGGAACATAAGGCCTTCTGAAAGAGCTTCAAAGGATGAAAG TGGAAACATTGAGACCGAAAAAATTAAAACAAAAACCTAGTATTGCCTTA TAATCCAAAGTATAAAGTAAACAAACACGAACACACTAATATAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03834.hp2 HG02683.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	2	265	0.0075	196	c.45 others(207): Show c.4577_*4578insCATTTATATTAGTGTGTTCGTGTTTGTTTACTTT ATACTTTGGATTATAAGGCAATACTAGGTTTTTGTTTTAATTTTTTCGGT CTCAATGTTTCCACTTTCATCCTTTGAAGCTCTTTCAGAAGGCCTTATGT TCCTTTGACATTGTTCATCGTTTGTGTTTTGTTTTTATTTTATTTAGAAT ATGTCCTTACTT	OR5B3	ENSG00000172769.4	transcript	ENST00000641865.1	protein_coding		4576		chr11	TogoVar
OTOF_chr2_26452203_26483124	26476493	T T	TCCCCACC others(189): Show TCCCCACCCCTTCCCCACCTCCTTTCCCCACCCCTTCCCCCACCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCACCTCCTCCCCACC CCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCT TCCCCCACCCTTCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	324	0.0031	196	c.436 others(211): Show c.436-177_436-176insGAAGGGGTGGGGAAGGAGGTGGGGAAGGGG TGGGGAAGGGTGGGGGAAGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAGGAGGTGGGGAAGGGGTGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGTGGGGGAAGGGGTGGGGAAAGGAGG TGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476493	T T	TCCCCACC others(189): Show TCCCCACCCCTTCCCCACCTCCTTTCCCCACCCCTTCCCCCACCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCACCTCCTCCCCACC CCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCT TCCCCCACCCTTCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	281	0.0036	196	c.267 others(213): Show c.2677-177_2677-176insGAAGGGGTGGGGAAGGAGGTGGGGAAGG GGTGGGGAAGGGTGGGGGAAGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAGGAGGTGGGGAAGGGGTGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGTGGGGGAAGGGGTGGGGAAAGGA GGTGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PAQR5_chr15_69293912_69412780	69364467	T T	TATTATAT others(189): Show TATTATATATGTTATATATATACATTATATATGTTATATATATACATTAT ATATGTAATATATATACATTATATATGTTATATATATACATTATATATGT AATATATATACATTATATATGTAATATATATACATTATATATGTTATATA TATACATTATATATGTAATATATATACATTATATATGTTATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0046 a0002c0002t0003g0141 a0002c0002t0001g0046 a0002c0002t0003g0141	2	235	0.0085	196	c.51+ others(211): Show c.51+4347_51+4348insTATATATATACATTATATATGTTATATATA TACATTATATATGTAATATATATACATTATATATGTTATATATATACATT ATATATGTAATATATATACATTATATATGTAATATATATACATTATATAT GTTATATATATACATTATATATGTAATATATATACATTATATATGTTATA TATACATTATATATGT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(189): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01928.hp2 others(4): Show HG00735.hp2 HG01346.hp1 HG01928.hp2 HG02004.hp1 NA18957.hp1 NA18965.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	7	188	0.0372	196	c.-26 others(207): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(189): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18953.hp2 NA18974.hp2 others(1): Show NA18939.hp1 NA18953.hp2 NA18974.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	4	185	0.0216	196	c.-26 others(207): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCGF3_chr4_700832_775089	731898	C C	CCCCTCCC others(189): Show CCCCTCCCCTCGTGGGTGGGCGAGGTCCTCAGGGGCGTAGGGCGGGGCTC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0081 a0001c0001t0011g0081	1	247	0.0040	196	c.-10 others(211): Show c.-10+791_-10+792insTCCCCTCGTGGGTGGGCGAGGTCCTCAGGG GCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGG CGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGC GTAGGGCGGGGCTCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGC GTAGGGCGGGGCTCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	309579	C C	CCCAGTGA others(189): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01070.hp2 others(7): Show HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01123.hp2 HG01255.hp2 HG01952.hp2 HG02004.hp2 HG02300.hp2 HG02630.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0036 a0001c0002t0001g0091 a0001c0002t0001g0124 others(7): Show a0001c0002t0001g0036 a0001c0002t0001g0091 a0001c0002t0001g0124 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0292 a0002c0003t0001g0296 a0002c0003t0001g0297	10	208	0.0481	196	c.368 others(213): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309587	T T	TGGCCGCC others(189): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02559.hp1 others(2): Show HG01069.hp2 HG01071.hp2 HG02559.hp1 HG02602.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0175 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0240	5	341	0.0147	196	c.368 others(213): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309607	C C	CCCAGTGA others(189): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp2 HG01109.hp2 others(11): Show HG00438.hp2 HG01106.hp2 HG01109.hp2 HG01496.hp2 HG01943.hp2 HG01993.hp1 HG02148.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02970.hp2 HG02976.hp2 HG03927.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0324 a0001c0002t0001g0039 a0001c0002t0001g0046 others(11): Show a0001c0001t0001g0324 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0063 a0001c0002t0001g0095 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0134 a0001c0002t0001g0323	14	245	0.0571	196	c.368 others(213): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATG GCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309607	C C	CCCAGTGA others(189): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	232	0.0043	196	c.368 others(213): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATG GCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCGC others(189): Show GCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03490.hp1 HG01109.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0146 a0001c0001t0001g0063 a0001c0001t0002g0146	2	184	0.0109	196	c.32 others(207): Show c.3270_*3271insCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3055		chr21	TogoVar
PDIA2_chr16_278164_292215	285937	C C	CCCCAACC others(189): Show CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0065 a0001c0005t0001g0065	1	386	0.0026	196	c.111 others(213): Show c.1119+249_1119+250insGCGGTTCTCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123152015	T T	TCCTGCCT others(189): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGC CTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG03486.hp2 others(1): Show HG01884.hp2 HG02895.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0130 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0130 a0001c0001t0001g0259 a0001c0001t0001g0269	4	300	0.0133	196	c.127 others(215): Show c.1273+1658_1273+1659insGCCTTCCTTCCTGCCTGCCTTCCTTC CTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGC CTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCT GCCTTTCTTCCTGCCTGCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDXK_chr21_43714129_43767299	43743079	G G	GTGGGGAC others(189): Show GTGGGGACACCTCACCTGCACCCACCTCCCTCCCCCCGCTCTGAGCACTA TGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCGCTCTGAGCACTAT GGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCGCTCTGAGCACTATG GGGACACCTCGCCTGCACCCACCTCCCTCCCCCCGCTCTGAGCACTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	356	0.0028	196	c.248 others(211): Show c.248-560_248-559insGCTCTGAGCACTATGGGGACACCTCGCCTG CACCCACCTCCCTCCCCCCGCTCTGAGCACTATGGGGACACCTCGCCTGC ACCCACCTCCCTCCCCCCGCTCTGAGCACTATGGGGACACCTCACCTGCA CCCACCTCCCTCCCCCCGCTCTGAGCACTATGGGGACACCTCGCCTGCAC CCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX5_chr12_7184686_7216459	7196952	T T	TATATATG others(189): Show TATATATGTCATATATAATGTAATAATTATATGTCATATATAATGTAATA ATTATATGTCATATATAATGTAATAATTATATATGTCATATGTAATAATT ATGTCATATATAATGTAATAATTATGTCATATATAATGTAATAATTATAT ATGTCATATATAATGTAATAATTATATATGTCATATACAATGTAATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG02257.hp2 others(3): Show HG00099.hp1 HG00733.hp1 HG02257.hp2 NA18945.hp1 NA18972.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 others(3): Show a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190	6	413	0.0145	196	c.449 others(213): Show c.449-2055_449-2054insATGTCATATATAATGTAATAATTATATG TCATATATAATGTAATAATTATATGTCATATATAATGTAATAATTATATA TGTCATATGTAATAATTATGTCATATATAATGTAATAATTATGTCATATA TAATGTAATAATTATATATGTCATATATAATGTAATAATTATATATGTCA TATACAATGTAATCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196965	T T	TAATGTAA others(189): Show TAATGTAATAATTATATGTCATATATAATGTAATAATTATATATGTCATA TGTAATAATTATGTCATATATAATGTAATAATTATGTCATATATAATGTA ATAATTATATATGTCATATATAATGTAATAATTATATATGTCATATACAA TGTAATCATATGTCATATACAATGTAATAATTATATATGTCATATAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0187 a0001c0001t0013g0187	1	395	0.0025	196	c.449 others(213): Show c.449-2030_449-2029insGTCATATATAATGTAATAATTATATATG TCATATGTAATAATTATGTCATATATAATGTAATAATTATGTCATATATA ATGTAATAATTATATATGTCATATATAATGTAATAATTATATATGTCATA TACAATGTAATCATATGTCATATACAATGTAATAATTATATATGTCATAT ACAATGTAATAATTATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(189): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0279 a0001c0003t0006g0279	1	182	0.0055	196	c.28- others(211): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGGGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(189): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19006.hp2 NA18952.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0125 a0001c0001t0009g0126 a0001c0001t0002g0125 a0001c0001t0009g0126	2	192	0.0104	196	c.-66 others(215): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	ATATATTA others(189): Show ATATATTATATATAATATATATTATATATATTATATATAATATATATTAT ATATATTATATATTATATATTATATATTATATATAATATATATTATATAT ATTATATATTATATATTATATATTATATATAATATATATTATATATATTA TATATTATATATTATATATAATATATAATATATAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03710.hp1 HG03654.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	358	0.0056	196	c.53 others(207): Show c.5312_*5313insTATATTATATATAATATATATTATATATATTATA TATAATATATATTATATATATTATATATTATATATTATATATTATATATA ATATATATTATATATATTATATATTATATATTATATATTATATATAATAT ATATTATATATATTATATATTATATATTATATATAATATATAATATATAA TATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PITPNA_chr17_1512718_1567792	1539452	A A	ACAGCCTC others(189): Show ACAGCCTCCTGAGGAGCTGGGCCTGAGTGATCCTCCTCTCTCAGTCTCCT GCCTGGGCCTGAGTGATCCTCCTGTTACAGCCTCCTGAAGAGCTGGGCCC GAGTGATCCTCCCGTCTCAGCCTCCTGAGGAGCTGGGCCCGAGCAATCCT CCTGTCACAGCCTCCTGAGGAGCTGGGCCCGAGTGATCCTCCTGTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	366	0.0027	196	c.373 others(211): Show c.373-696_373-501dupAGACAGGAGGATCACTCGGGCCCAGCTCCT CAGGAGGCTGTGACAGGAGGATTGCTCGGGCCCAGCTCCTCAGGAGGCTG AGACGGGAGGATCACTCGGGCCCAGCTCTTCAGGAGGCTGTAACAGGAGG ATCACTCAGGCCCAGGCAGGAGACTGAGAGAGGAGGATCACTCAGGCCCA GCTCCTCAGGAGGCTG	PITPNA	ENSG00000174238.16	transcript	ENST00000313486.12	protein_coding	6/11			chr17	TogoVar
PIWIL1_chr12_130332887_130377637	130338463	C C	CGGGGGCG others(189): Show CGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCG AGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCA GGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG AGATGCAGGAGCGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0235	1	422	0.0024	196	c.-13 others(211): Show c.-13+336_-13+337insCGGGAGATGCAGGAGCCGGGTGCGGGGTCG AGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCA GGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG AGATGCAGGAGCGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGG GGCGAGGTCCCAGGTG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLCXD1_chrX_276381_308356	297357	C C	CCATTATT others(189): Show CCATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA CATTGTTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTGTTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTACGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0072 a0001c0001t0052g0072	1	153	0.0065	196	c.734 others(213): Show c.734-1727_734-1726insATCACATGGGGATTAGGACGTGGACATC TTTGGGGACATTGTTCTGTCTATCACATGGGGATTAGGACGTGGACATCT TTGGGGACATTGTTCTGTCTATCACATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCTATCACATGGGGATTACGACGTGGACATCTTT GGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297798	C C	CCATTATT others(189): Show CCATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTACGACATGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02630.hp2 HG02723.hp2 others(1): Show HG00735.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0005 a0006c0011 a0001c0003 a0002c0005 a0006c0011	a0001c0003t0027 a0002c0005t0026 a0006c0011t0102 a0001c0003t0027 a0002c0005t0026 a0006c0011t0102	a0001c0003t0027g0015 a0001c0003t0027g0016 a0002c0005t0026g0031 others(1): Show a0001c0003t0027g0015 a0001c0003t0027g0016 a0002c0005t0026g0031 a0006c0011t0102g0017	4	112	0.0357	196	c.734 others(213): Show c.734-1285_734-1284insCCTCATGGGGATTAGGACGTGGACATCT TTGGGGACATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTT GGGGACATTATTCTGTCTATCACATGGGGATTACGACATGGACATCTTTG GGGACATTATTCTGTCTA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298246	T T	TCTGTCTA others(189): Show TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATC CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTC TGTCTATCACATTGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 NA18906.hp1 HG01891.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0054 a0001c0003t0006 a0001c0003t0054	a0001c0003t0006g0039 a0001c0003t0006g0120 a0001c0003t0054g0085 a0001c0003t0006g0039 a0001c0003t0006g0120 a0001c0003t0054g0085	3	166	0.0181	196	c.734 others(211): Show c.734-810_734-809insCCATTATCCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATTGGGATTAGG ACGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298337	C C	CCATTATT others(189): Show CCATTATTCTGTCTATCACATTGGGATTAGGACGTGGACATCTTTGGGGC CATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCC ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0056 a0001c0003t0006 a0001c0003t0056	a0001c0003t0006g0038 a0001c0003t0056g0086 a0001c0003t0006g0038 a0001c0003t0056g0086	2	100	0.0200	196	c.734 others(211): Show c.734-740_734-739insTGGGATTAGGACGTGGACATCTTTGGGGCC ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTATCACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298337	C C	CCATTATT others(189): Show CCATTATTCTGTCTATCACATTGGGATTAGGACGTGGACATCTTTGGGGC CATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCC ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0098 a0001c0003t0098	a0001c0003t0098g0087 a0001c0003t0098g0087	1	99	0.0101	196	c.734 others(211): Show c.734-740_734-739insTGGGATTAGGACGTGGACATCTTTGGGGCC ATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTATCACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298729	C C	CTGTTATT others(189): Show CTGTTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0074 a0001c0001t0020g0074	1	156	0.0064	196	c.734 others(211): Show c.734-368_734-367insTGTTATTCTGTCTCCCACATGGGGATTAGG ACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGGACG TGGACATCTTTGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6			chrX	TogoVar
PLEKHG4B_chr5_87168_194966	165354	G G	GCTCTGAC others(189): Show GCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGATGTGGCGGAGCTCACACTAATGCTCTGACGG GGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0087 a0001c0032t0087	a0001c0032t0087g0008 a0001c0032t0087g0008	1	204	0.0049	196	c.347 others(215): Show c.3476+1820_3476+1821insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGATGTGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998756	T T	TATATATT others(189): Show TATATATTATATATAATATATATTATATATAATATATAATATATATTATA TATAAATATATTATTTATATATAATATAATATATATTATATATAAAAATA TATTTATATATAATATAATATATATTATATATAAAAATATATATAATATA TTATATATAAAAATATATATAATATATTATATATAAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02630.hp1 others(5): Show HG01891.hp2 HG02280.hp1 HG02630.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0004g0010 a0001c0001t0005g0012 a0001c0001t0001g0006 a0001c0001t0004g0010 a0001c0001t0005g0012	8	277	0.0289	196	c.-50 others(207): Show c.-5054_-5053insTATATATATTTTTATATATAATATATTATATATA TTTTTATATATAATATATTATATATATTTTTATATATAATATATATTATA TTATATATAAATATATTTTTATATATAATATATATTATATTATATATAAA TAATATATTTATATATAATATATATTATATATTATATATAATATATATTA TATATAATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4641		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998756	T T	TATATATT others(189): Show TATATATTATATATAATATATATTATATATAATATATAATATATATTATA TATAAATATATTATTTATATATAATATAATATATATTATATATAAAAATA TATTTATATATAATATAATATATATTATATATAAAAATATATATTATATA TTATATATAAAAATATATATAATATATTATATATAAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	271	0.0074	196	c.-50 others(207): Show c.-5054_-5053insTATATATATTTTTATATATAATATATTATATATA TTTTTATATATAATATATAATATATATTTTTATATATAATATATATTATA TTATATATAAATATATTTTTATATATAATATATATTATATTATATATAAA TAATATATTTATATATAATATATATTATATATTATATATAATATATATTA TATATAATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4641		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(189): Show CCTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA CTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAAC TCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAACT CAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02965.hp1 others(1): Show HG02622.hp2 HG02897.hp2 HG02965.hp1 NA18906.hp1	a0006 a0022 a0024 a0006 a0022 a0024	a0006c0017 a0022c0031 a0024c0036 a0006c0017 a0022c0031 a0024c0036	a0006c0017t0001 a0022c0031t0001 a0024c0036t0001 a0006c0017t0001 a0022c0031t0001 a0024c0036t0001	a0006c0017t0001g0099 a0006c0017t0001g0112 a0022c0031t0001g0097 others(1): Show a0006c0017t0001g0099 a0006c0017t0001g0112 a0022c0031t0001g0097 a0024c0036t0001g0153	4	72	0.0556	196	c.303 others(213): Show c.3039+472_3039+473insTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCT GATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCTG ATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCTGA TCCGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(189): Show CCTCAGACCCGGGCACGGATCAGACCGCCTCCCACCACCGTCTCCACCAA CTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAAC TCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAACT CAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0001 a0023c0028t0001	a0023c0028t0001g0172 a0023c0028t0001g0172	1	69	0.0145	196	c.303 others(213): Show c.3039+472_3039+473insTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCT GATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCTG ATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGCGGTCTGA TCCGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(189): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCCTCCCCTTCCTCTCTCCTTC CCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCC TTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTT CCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	82	0.0122	196	c.845 others(213): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC CTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCC CCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCC CTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTC CCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676528	C C	CTTCTCCC others(189): Show CTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCC TCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTC CCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTC TCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCCTTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00741.hp2 others(16): Show HG00280.hp2 HG00642.hp2 HG00741.hp2 HG01071.hp1 HG01109.hp2 HG01257.hp2 HG01433.hp1 HG01516.hp1 HG03239.hp2 HG03834.hp2 NA18939.hp1 NA18950.hp1 NA18964.hp1 NA19000.hp2 NA19054.hp1 NA19062.hp1 NA19081.hp2 NA19088.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(16): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0285 a0007c0007t0001g0094	19	308	0.0617	196	c.845 others(213): Show c.845-1704_845-1703insTTCTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCT TCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCCTTCCCTTTCCT	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PRKN_chr6_161342417_162732766	161350871	T T	TTTTTATA others(189): Show TTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTT AAAATATATATATTTTTATATATTTATATTTAAAATATATATATTTTTAT ATATTTATATTTAAAATATATATATTTTTATATATTTATATTTAAAATAT ATATAAATATATTTTATATATTTATATTTAAAATATATATAAATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	17	0.0588	196	c.128 others(213): Show c.1286-661_1286-660insTATATTTATATATATTTTAAATATAAAT ATATAAAATATATTTATATATATTTTAAATATAAATATATAAAAATATAT ATATTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATAT ATAAAAATATATATATTTTAAATATAAATATATAAAAATATATATATTTT AAATATAAATATATAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRTN3_chr19_835999_853175	844283	C C	CGCGCCTC others(189): Show CGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGC CCGCGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTG CATGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGC GCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	394	0.0025	196	c.369 others(211): Show c.369+249_369+250insGCGCCTCTCCCCCGCCCGCGCCTCTCCCCC GCCCGCGCCTCTCCCCTGCCCGCGCCTCTCCCTTGCCCGCCCCTCTCCCC TGCCCGCGCCTCTCCCCTGCATGCCTCTCCCTTGCCCGCCCCTCTCCCCT GCCCGCGCCTCTCCCCTGCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCG CCCGCGCCTCTCCCCT	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4			chr19	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(189): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03942.hp1 HG02738.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0270 a0001c0001t0006g0139 a0001c0001t0006g0270	2	359	0.0056	196	c.548 others(213): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAC AAAAAATTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGES3L_chr17_42963103_42985080	42973334	T T	TCTGCCCG others(189): Show TCTGCCCGGCCAGCTACCCCGTCCGGGACGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	334	0.0030	196	c.289 others(213): Show c.289-1639_289-1638insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCGTCCCGGACG GGGTAGCTGGCCGGGCAG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	4/6			chr17	TogoVar
PTPN9_chr15_75458251_75584315	75503519	G G	GCAGCCGC others(189): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGATCAGCCCCCCGCCCGGCC AGCCGCTCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCGCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	324	0.0031	196	c.968 others(213): Show c.968+2155_968+2156insGCTGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACTCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGCTGACCGCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGGCTGATCCCCCACCTCCC TCCCGGACGGGGCGGCTG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PXMP2_chr12_132682587_132709985	132692373	T T	TGCCAGTT others(189): Show TGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT GCCATTACTTAGTGAGCGCCCTGAGCCAGCTTAGGTAGTGAGCTCCCTGA GCCAGTTAGGTAGTGAGCTCCCTGAGCCAGTTAGTTAGTGAGCGCCCTTG CCAGTTAGTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0145 a0001c0003t0008g0145	1	326	0.0031	196	c.236 others(213): Show c.236+2015_236+2016insGCCCTTAGCCAGTTAGTTAGTGAGCGCC CTTGCCATTACTTAGTGAGCGCCCTGAGCCAGCTTAGGTAGTGAGCTCCC TGAGCCAGTTAGGTAGTGAGCTCCCTGAGCCAGTTAGTTAGTGAGCGCCC TTGCCAGTTAGTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GCCAGTTAGTTAGTGAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar

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