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
POLG_chr15_89311320_89339824	89325141	A A	AGAGAGTG others(97): Show AGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	395	0.0025	104	c.194 others(121): Show c.1949+308_1949+309insACTCACTCTCTCACTCACTCACTCACTC TCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POTEC_chr18_14502339_14548600	14543600	T T	TGCGCGTG others(97): Show TGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGG GGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGC GGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01516.hp1 HG01517.hp1 others(5): Show HG00733.hp2 HG01516.hp1 HG01517.hp1 HG02896.hp2 HG02897.hp2 NA18906.hp1 NA19030.hp1 NA19070.hp1	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0009	a0005c0005 a0006c0009 a0007c0006 others(1): Show a0005c0005 a0006c0009 a0007c0006 a0009c0011	a0005c0005t0005 a0005c0005t0012 a0006c0009t0010 others(2): Show a0005c0005t0005 a0005c0005t0012 a0006c0009t0010 a0007c0006t0064 a0009c0011t0014	a0005c0005t0005g0048 a0005c0005t0005g0050 a0005c0005t0012g0004 others(3): Show a0005c0005t0005g0048 a0005c0005t0005g0050 a0005c0005t0012g0004 a0006c0009t0010g0162 a0007c0006t0064g0051 a0009c0011t0014g0169	8	303	0.0264	104	c.-45 others(113): Show c.-455_-454insGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACG CGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCA CGCGCGCCCCGCACGCGC	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding		1		chr18	TogoVar
POTEC_chr18_14502339_14548600	14543632	T T	TGCGGGGC others(97): Show TGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCG CGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCG CGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA19054.hp1 NA19065.hp2 others(1): Show NA18946.hp1 NA19054.hp1 NA19065.hp2 NA20300.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0019 a0001c0001 a0024c0019	a0001c0001t0003 a0001c0001t0019 a0024c0019t0003 a0001c0001t0003 a0001c0001t0019 a0024c0019t0003	a0001c0001t0003g0005 a0001c0001t0003g0019 a0001c0001t0019g0074 others(1): Show a0001c0001t0003g0005 a0001c0001t0003g0019 a0001c0001t0019g0074 a0024c0019t0003g0053	4	308	0.0130	104	c.-48 others(113): Show c.-487_-486insGCGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCC CGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGC CCCGCACGCGCGCCCCGC	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding		33		chr18	TogoVar
PPARGC1A_chr4_23787021_23895047	23844786	A A	AATATATG others(97): Show AATATATGATATATATTATAATAATATATGATATATATTATTATAATATA TGATATATATTATTATAATATATGATATATATTATTATAATATATGATAT ATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 NA20129.hp2 HG01109.hp1 HG01884.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0034 a0001c0001t0003g0161 a0001c0001t0003g0162	3	80	0.0375	104	c.235 others(123): Show c.235-13036_235-13035insAATATATATCATATATTATAATAATA TATATCATATATTATAATAATATATATCATATATTATAATAATATATATC ATATATTATTATAATATATATCATATAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPM1L_chr3_160751231_161083902	160944813	T T	TATATGTT others(97): Show TATATGTTATATATAACATATATAACATATATGTTATATATGTTATATAT AACATATATAACATATATGTTATATATAACATATATGTTATATGTTATAT ATAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02723.hp1 others(1): Show HG02109.hp2 HG02630.hp1 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0031 a0001c0001t0009 a0001c0001t0026 a0001c0001t0031	a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0026g0160 others(1): Show a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0026g0160 a0001c0001t0031g0059	4	204	0.0196	104	c.400 others(123): Show c.400-16919_400-16918insGTTATATATAACATATATAACATATA TGTTATATATGTTATATATAACATATATAACATATATGTTATATATAACA TATATGTTATATGTTATATATAACATAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R2C_chr4_6315581_6477614	6336649	C C	CTCCCTCC others(97): Show CTCCCTCCCTCCTTCCCTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCT CCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCC CTCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0039 a0001c0001t0016g0247 a0001c0001t0002g0039 a0001c0001t0016g0247	2	171	0.0117	104	c.791 others(121): Show c.791-2919_791-2918insAGGAGGGAGGGAGGGAGGGAGGGAAGGA GGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGATGGAAGCAGG GAGGGAGGGAGGGAAGGAGGGAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131916820	G G	GGTGGGCG others(97): Show GGTGGGCGGGATGACACAGTGTTTGTAGGGACCTCAGGTGGGCGGGATGA CACAGTGTTTGTAGGGACCTCAGGCGGGTGGGATGACACAGTGTAGGGAC CTCAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0244 a0001c0001t0002g0245	2	391	0.0051	104	c.100 others(123): Show c.100+15490_100+15491insGTGGGCGGGATGACACAGTGTTTGTA GGGACCTCAGGTGGGCGGGATGACACAGTGTTTGTAGGGACCTCAGGCGG GTGGGATGACACAGTGTAGGGACCTCAT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8			chr10	TogoVar
PRDM16_chr1_3064203_3443621	3181486	A A	AAGCAGTC others(97): Show AAGCAGTCTTACACACGGTCTTACACACGCGGTCTTACACAAGCAGTCTT ACACACGGTCTTACACACAGTCTTACACACGGCCTTACGCATGGTCTTAC ACACG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0065 a0002c0003t0006g0065	1	159	0.0063	104	c.38- others(119): Show c.38-4639_38-4638insAGCAGTCTTACACACGGTCTTACACACGCG GTCTTACACAAGCAGTCTTACACACGGTCTTACACACAGTCTTACACACG GCCTTACGCATGGTCTTACACACG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(97): Show GTATATGTACGTGTATATATATACGTATATATATACACGTATATGTACGT GTATATATATACGTATATATATACGCGTATATATATACGTATATATACGC GTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(31): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG01516.hp1 HG01993.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02622.hp1 HG02683.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18994.hp1 NA18995.hp1 NA19043.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0004t0001g0015 a0001c0006t0001g0092	34	41	0.8293	104	c.313 others(121): Show c.313-1760_313-1759insTACACGCGTATATATACGTATATATATA CGCGTATATATATACGTATATATATACACGTACATATACGTGTATATATA TACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(97): Show GTATATGTACGTGTATATATATACGTATATATATATACGTATATGTACGC GTATATATATACGTATATATATACGCGTATATATATACGTATATATACGC GTGTA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	8	0.1250	104	c.313 others(121): Show c.313-1760_313-1759insTACACGCGTATATATACGTATATATATA CGCGTATATATATACGTATATATATACGCGTACATATACGTATATATATA TACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(97): Show GTATATGTACGTGTATATATATACGTATATATATATACGTATATGTACGT GTATATATATACGTATATATATACGCGTATATATATACGTATATATACGC GTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(162): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0102 a0001c0001t0004g0052 a0001c0002t0001g0004 a0001c0002t0001g0043 a0001c0002t0001g0062 a0001c0002t0001g0073 a0001c0002t0001g0093 a0001c0003t0001g0031 a0001c0003t0001g0105 a0001c0005t0001g0063	165	172	0.9593	104	c.313 others(121): Show c.313-1760_313-1759insTACACGCGTATATATACGTATATATATA CGCGTATATATATACGTATATATATACACGTACATATACGTATATATATA TACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(97): Show GTATATGTACGTGTATATATATACGTATATATATATACGTATATGTACGT GTATATATATACGTATATATATACGTGTATATATATACGTATATATACGC GTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	8	0.1250	104	c.313 others(121): Show c.313-1760_313-1759insTACACGCGTATATATACGTATATATATA CACGTATATATATACGTATATATATACACGTACATATACGTATATATATA TACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(97): Show GTATATGTACGTGTATATATATACGTGTATATATATACGTATATGTACGT GTATATATATACGTATATATATACGCGTATATATATACGTATATATACGC GTGTA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	8	0.1250	104	c.313 others(121): Show c.313-1760_313-1759insTACACGCGTATATATACGTATATATATA CGCGTATATATATACGTATATATATACACGTACATATACGTATATATATA CACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRIM2_chr6_57312630_57651850	57470391	G G	GCCTCTCC others(97): Show GCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTC TCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCC CCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0007 a0002c0004t0004g0007	1	253	0.0040	104	c.694 others(123): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCT CTCCCCTCTCCCCCTCTCCCCTCTCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57470402	T T	TCTCCCCT others(97): Show TCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0006 a0003c0005t0001g0006	1	293	0.0034	104	c.694 others(123): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCTCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCTCTCCCCCT CTCCCCTCTCCCCCTCTCCCCTCTCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57470417	T T	TCTCCCCT others(97): Show TCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp2 HG02273.hp1 others(1): Show HG01168.hp1 HG01261.hp2 HG02273.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0201 a0001c0003t0003g0021 a0001c0003t0003g0022 others(1): Show a0001c0001t0003g0201 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0026	4	256	0.0156	104	c.694 others(123): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCCCCTCTCCCCCT CTCCCCTCTCCCCCTCTCCCCTCTCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKAR2A_chr3_48741586_48852874	48829590	A A	ATATACAC others(97): Show ATATACACACATAAATGTGTGTGTATACGTGTGTATACACACACATAAAT GTGTGTGTGTATACGTGTGTATACACACACATAAATGTGTGTGTGTATAC GTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18522.hp2 NA20129.hp1 others(1): Show HG02723.hp2 NA18522.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0005g0040 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0005g0040 a0001c0001t0006g0055	4	107	0.0374	104	c.262 others(123): Show c.262+17744_262+17745insCACACGTATACACACACACATTTATG TGTGTGTATACACACGTATACACACACACATTTATGTGTGTGTATACACA CGTATACACACACATTTATGTGTGTATA	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKD1_chr14_29571479_29932847	29826161	C C	CACATATA others(97): Show CACATATATATGATGGAATATATATATACATATATATGATGGAATATATA TATACATATATATGATGGAATATATATATACATATATATGATGGAATATA TATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02451.hp2 others(2): Show HG02055.hp1 HG02451.hp1 HG02451.hp2 NA18965.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001	a0001c0001t0001g0044 a0001c0002t0001g0104 a0001c0002t0002g0027 others(2): Show a0001c0001t0001g0044 a0001c0002t0001g0104 a0001c0002t0002g0027 a0001c0002t0005g0004 a0001c0003t0001g0045	5	128	0.0391	104	c.265 others(125): Show c.265-100591_265-100488dupATATATATATTCCATCATATATAT GTATATATATATTCCATCATATATATGTATATATATATTCCATCATATAT ATGTATATATATATTCCATCATATATATGT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKN_chr6_161342417_162732766	162011276	A A	ACTATATT others(97): Show ACTATATTATATATAATATAGTATATATTTATAATTATATACTATATATA ATATAGTATATATTTATAATTATATACTATATATAATATAGTATATATTT ATAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	17	0.0588	104	c.619 others(123): Show c.619-37860_619-37859insATTATAAATATATACTATATTATATA TAGTATATAATTATAAATATATACTATATTATATATAGTATATAATTATA AATATATACTATATTATATATAATATAG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102430640	A A	AAGGGAAG others(97): Show AAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGGAGGGAAGGGAGAGAA GGGAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGGAGGGAAGGGAGAG AAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	226	0.0044	104	c.55 others(115): Show c.5529_*5530insAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGG AGGGAAGGGAGAGAAGGGAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAG GGAGGGAAGGGAGAGAAGGG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		3975		chr7	TogoVar
PRMT2_chr21_46630674_46670124	46645268	A A	AAAAAAAA others(97): Show AAAAAAAAAAAATAGAAAAAATTCTATAAATCTATGAATGATACTACGTG AGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAGCCT GTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0003t0003 a0002c0004t0003	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(101): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0221 a0001c0001t0001g0253 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0069 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0247 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0098 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0037 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0126 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0008g0053 a0001c0001t0008g0251 a0001c0001t0009g0008 a0001c0001t0016g0012 a0001c0003t0003g0003 a0002c0004t0003g0111	165	345	0.4783	104	c.327 others(119): Show c.327+791_327+792insTAGAAAAAATTCTATAAATCTATGAATGAT ACTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGC GAGAGCCTGTCTCAAAAAAAAAAA	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRMT2_chr21_46630674_46670124	46645268	A A	AAAAAAAA others(97): Show AAAAAAAAAAAATAGAAAAAATTCTATAAATCTATGAATGATAGTACGTG AGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAGCCT GTCTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18951.hp1 NA18994.hp2 others(3): Show NA18947.hp1 NA18951.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0147 a0001c0001t0003g0164 a0001c0001t0003g0017 a0001c0001t0003g0147 a0001c0001t0003g0164	6	186	0.0323	104	c.327 others(119): Show c.327+791_327+792insTAGAAAAAATTCTATAAATCTATGAATGAT AGTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGC GAGAGCCTGTCTCAAAAAAAAAAA	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRMT2_chr21_46630674_46670124	46645268	A A	AAAAAAAA others(97): Show AAAAAAAAAAAATAGAAAAAATTCTGTAAATCTATGAATGATACTACGTG AGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAGCCT GTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00735.hp2 others(9): Show HG00140.hp2 HG00597.hp1 HG00735.hp2 HG01071.hp2 HG01106.hp2 HG01243.hp2 HG02523.hp1 NA18949.hp1 NA18994.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0100 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0001t0002g0102	12	192	0.0625	104	c.327 others(119): Show c.327+791_327+792insTAGAAAAAATTCTGTAAATCTATGAATGAT ACTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGC GAGAGCCTGTCTCAAAAAAAAAAA	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRMT2_chr21_46630674_46670124	46645268	A A	AAAAAAAA others(97): Show AAAAAAAAAAAATAGGAAAAATTCTATAAATCTATGAATGATACTACGTG AGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAGCCT GTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(53): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18989.hp1 NA19004.hp1 NA19009.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp2 NA19067.hp1 NA19089.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014	a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0036 others(28): Show a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0226 a0001c0001t0003g0148 a0001c0001t0011g0144 a0001c0001t0014g0042	56	236	0.2373	104	c.327 others(119): Show c.327+791_327+792insTAGGAAAAATTCTATAAATCTATGAATGAT ACTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGC GAGAGCCTGTCTCAAAAAAAAAAA	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRMT2_chr21_46630674_46670124	46645276	A A	AAATAGAA others(97): Show AAATAGAAAAAATTCTATAAATCTATGAATGATACTACGTGAGCCATGAT GGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAGCCTGTCTCAAAA AAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0073 a0001c0001t0012g0073	1	405	0.0025	104	c.327 others(119): Show c.327+790_327+791insTAGAAAAAATTCTATAAATCTATGAATGAT ACTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGC GAGAGCCTGTCTCAAAAAAAAGAA	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRPF31_chr19_54110754_54136713	54133740	C C	CTCCCTCC others(97): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	221	0.0045	104	c.23 others(115): Show c.2308_*2309insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2028		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTCCCTCC others(97): Show CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	73	0.0137	104	c.23 others(115): Show c.2397_*2398insTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(97): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	73	0.0137	104	c.23 others(115): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133838	T T	TCTCCACC others(97): Show TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTC CCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	222	0.0045	104	c.24 others(115): Show c.2406_*2407insCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCCCTCTGTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2126		chr19	TogoVar
PRR35_chr16_555394_570529	565736	A A	AGGAGAGC others(97): Show AGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGG GGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCG GGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	362	0.0028	104	c.42 others(113): Show c.429_*430insGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTGTC TTGGTGTGTCGGGGGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTGTG TCTTGGTGTGTCGGGGGT	PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding		208		chr16	TogoVar
PRR5L_chr11_36291288_36470204	36351140	A A	ATATATTT others(97): Show ATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATA TATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATA TAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02970.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG02970.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0001t0001 a0001c0001t0002 a0001c0004t0003	a0001c0001t0001g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 others(1): Show a0001c0001t0001g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0004t0003g0222	4	226	0.0177	104	c.-12 others(125): Show c.-125-49840_-125-49839insGTATTTTATATATAAATATATATT TATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTAT TTTATATATAAATTATATTTATAAATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(97): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	276	0.0036	104	c.241 others(123): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(97): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	276	0.0036	104	c.241 others(123): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSD3_chr8_18522303_19018703	18594195	C C	CATATTAT others(97): Show CATATTATATAATATATATTATTATATACATTATATAATATATATTATTA TATATATTATATAATATATATTATTATATATATTATATAATATATATTAT TATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0012 a0004c0009t0012	a0004c0009t0012g0151 a0004c0009t0012g0151	1	181	0.0055	104	c.248 others(123): Show c.2481+6168_2481+6169insATATAATAATATATATTATATAATAT ATATAATAATATATATTATATAATATATATAATAATATATATTATATAAT GTATATAATAATATATATTATATAATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18594195	C C	CATATTAT others(97): Show CATATTATATAATATATATTATTATATATATTATATAATATATATTATTA TATATATTATATAATATATATTATTATATATATTATATAATATATATTAT TATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0012 a0004c0010t0012	a0004c0010t0012g0118 a0004c0010t0012g0118	1	181	0.0055	104	c.248 others(123): Show c.2481+6168_2481+6169insATATAATAATATATATTATATAATAT ATATAATAATATATATTATATAATATATATAATAATATATATTATATAAT ATATATAATAATATATATTATATAATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18594244	A A	ATATACAT others(97): Show ATATACATTATATAATATATATTATTATATATATTATATAATATATATTA TTATATACATATTATATAATATATATTATTATATATATTATATAATATAT ATTAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	223	0.0045	104	c.248 others(123): Show c.2481+6119_2481+6120insATAATATATATTATATAATATATATA ATAATATATATTATATAATATGTATATAATAATATATATTATATAATATA TATAATAATATATATTATATAATGTATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141395575	G G	GTGGGCCA others(97): Show GTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCCGGGGTAGGT GCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCCAGGATAG GTGCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	320	0.0031	104	c.-85 others(123): Show c.-854+3531_-854+3532insGGGGTAGGTGCGTGGGCCACCCCTCC CTCCTGCAGCCCCCGTTCATCTACCCAGGATAGGTGCATGGGCCACCCCT CCCTCCTGCAGCCCCCGTTCATCTACCC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141395724	T T	TAGGTGCG others(97): Show TAGGTGCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCCAG GATAGGTGCATGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCT GGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	317	0.0063	104	c.-85 others(123): Show c.-854+3689_-854+3690insGATAGGTGCATGGGCCACCCCTCCCT CCTGCAGCCCCCGTTCATCTACCTGGGGAAGGTGCGTGGGCCACCCCTCC CTCCTGCAGCCCCCGTTCATCTACCCAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN21_chr14_88460778_88560007	88546003	A A	AAAAAAAA others(97): Show AAAAAAAAAAAAAAGAAGTTACTTTCTGTAGTTCAAATATGGTGAATTTA AAAGAAAGTTAGCAACCTAAGTTAACTACATTGGATACATGTATATTAAC CACGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp2 HG06807.hp1 others(1): Show HG00642.hp2 HG02145.hp2 HG06807.hp1 NA18906.hp2	a0003 a0008 a0003 a0008	a0003c0005 a0008c0012 a0003c0005 a0008c0012	a0003c0005t0007 a0008c0012t0007 a0003c0005t0007 a0008c0012t0007	a0003c0005t0007g0070 a0003c0005t0007g0071 a0008c0012t0007g0074 others(1): Show a0003c0005t0007g0070 a0003c0005t0007g0071 a0008c0012t0007g0074 a0008c0012t0007g0075	4	346	0.0116	104	c.180 others(121): Show c.180+4131_180+4234dupACGTGGTTAATATACATGTATCCAATGT AGTTAACTTAGGTTGCTAACTTTCTTTTAAATTCACCATATTTGAACTAC AGAAAGTAACTTCTTTTTTTTTTTTT	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPRB_chr12_70510870_70642429	70626300	T T	TATCTATC others(97): Show TATCTATCTATCTATCTATCGTGCCTTTTTAACAGAGAGCAAATCATCTG GAAAAAAGATAACAAATGAAACAGGAGATACTTTAGAAAAGGATGATGTC TATCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0007 a0002c0011t0001g0007	1	292	0.0034	104	c.452 others(121): Show c.452-3655_452-3654insGGATAGACATCATCCTTTTCTAAAGTAT CTCCTGTTTCATTTGTTATCTTTTTTCCAGATGATTTGCTCTCTGTTAAA AAGGCACGATAGATAGATAGATAGAT	PTPRB	ENSG00000127329.16	transcript	ENST00000334414.11	protein_coding	2/33			chr12	TogoVar
PTPRD_chr9_8309246_10618002	8782058	C C	CGTTTATG others(97): Show CGTTTATGGTATAAAACATACCATAATGTTTATGGTATAAAACATACCAT AATGTTTATGGTATAAAACATACCATAATGTTTATGGTATAAAACATACC ATAAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0032 a0001c0001t0024g0032	1	8	0.1250	104	c.-10 others(125): Show c.-103-48216_-103-48113dupATTATGGTATGTTTTATACCATAA ACATTATGGTATGTTTTATACCATAAACATTATGGTATGTTTTATACCAT AAACATTATGGTATGTTTTATACCATAAAC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8929837	A A	ATATGTGT others(97): Show ATATGTGTATATATATGTGTGTATATATATGTGTGTATATATATGTGTGT GTATATATGTGTGTGTATATATGTGTATATATATGTGTATATATGTATAT ATGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02683.hp1 HG01099.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0011 a0001c0012t0016 a0001c0002t0011 a0001c0012t0016	a0001c0002t0011g0030 a0001c0012t0016g0028 a0001c0002t0011g0030 a0001c0012t0016g0028	2	19	0.1053	104	c.-10 others(125): Show c.-104+88859_-104+88860insCACATATATACATATATACACATA TATATACACATATATACACACACATATATACACACACATATATATACACA CATATATATACACACATATATATACACATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10438010	T T	TATATATA others(97): Show TATATATATTATATATATATATAATATATATATATATATTATATATATAT ATAATATATATATATTATATATATATAATAAATATATATATTATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 NA21309.hp1 HG01109.hp2 HG01243.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0015 a0001c0003t0023 a0001c0002t0003 a0001c0002t0015 a0001c0003t0023	a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0023g0031 a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0023g0031	3	34	0.0882	104	c.-59 others(125): Show c.-599-96994_-599-96993insTATATATATATATAATATATATAT TTATTATATATATATAATATATATATATTATATATATATATAATATATAT ATATATATTATATATATATATAATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PWWP2B_chr10_132392200_132422859	132403992	T T	TAGGACGG others(97): Show TAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCCAGGGCTCC TGCAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCCAGGGCT CCTGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0152 a0003c0005t0001g0152	1	155	0.0065	104	c.126 others(119): Show c.126-543_126-542insCCAGGGCTCCTGCAGGACGGCATTCTCCAG GGCTCCTGCAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCC AGGGCTCCTGCAGGACGGCATTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
QSOX2_chr9_136201333_136250812	136237524	A A	ACACCTGG others(97): Show ACACCTGGAGCCCGTCCTGTGCCGGCGACACCTGGAGCCCGTCCTGTGCC GGCGACACCTGGAGCCCGTCCTGTGCCACACCTGGAGCCCGTCCTGTGCC GGCGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0168 a0001c0017t0011g0168	1	389	0.0026	104	c.328 others(121): Show c.328+7951_328+7952insACGCCGGCACAGGACGGGCTCCAGGTGT GGCACAGGACGGGCTCCAGGTGTCGCCGGCACAGGACGGGCTCCAGGTGT CGCCGGCACAGGACGGGCTCCAGGTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	504509	A A	ACCCCCCT others(97): Show ACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCC TGTAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0135	1	278	0.0036	104	c.139 others(123): Show c.1396-1010_1396-1009insCTCACCTCCTCCTGTACCCCCCTCAC CTCCTCCTGTACCCCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCCTCACCTCCTCCTGTACCCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58756321	A A	ATATATAT others(97): Show ATATATATATATATAACATATATATGTTATATATATATATAACATATATA TGTTATATATATATATAACATATATATGTTATATATATATATAACATATA TATGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0100 a0001c0001t0043g0100	1	210	0.0048	104	c.371 others(123): Show c.371+30251_371+30252insGTTATATATATATATAACATATATAT GTTATATATATATATAACATATATATGTTATATATATATATAACATATAT ATGTTATATATATATATAACATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377540	T T	TATATATA others(97): Show TATATATATATGCATATATATATGTATACATATATATGCATATATATGTA TACATATATATATGCATATATATGTATACATATATATATGCATATATATG TATAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	347	0.0029	104	c.351 others(121): Show c.351+2837_351+2838insATGCATATATATATGTATACATATATAT GCATATATATGTATACATATATATATGCATATATATGTATACATATATAT ATGCATATATATGTATACATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377586	C C	CATATATA others(97): Show CATATATATATGCATATATATGTATACATATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATATATATATGTA TACAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp1 others(18): Show HG00323.hp1 HG00423.hp2 HG00621.hp1 HG01071.hp1 HG01106.hp2 HG01496.hp1 HG02056.hp1 HG02071.hp2 HG02165.hp1 HG02523.hp1 HG02698.hp2 NA18612.hp2 NA18944.hp2 NA18949.hp1 NA18977.hp1 NA18985.hp1 NA18987.hp1 NA18997.hp1 NA19081.hp2 NA19089.hp1 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0006 a0001c0001 a0009c0006	a0001c0001t0001 a0009c0006t0004 a0001c0001t0001 a0009c0006t0004	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0068 others(18): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0262 a0009c0006t0004g0076	21	337	0.0623	104	c.351 others(121): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATGCATATATATGTATACATATATATGCATATATATATGT ATACATATATATATATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377593	A A	ATATGCAT others(97): Show ATATGCATATATATGTATACATATATATATGCATATATATGTATACATAT ATATGCATATATATGTATACATATATATGCATATATATATGTATACATAT ATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	356	0.0028	104	c.351 others(121): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATGCATATATATGTATACATATATATGCATATATATATGT ATACATATATATGTATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar

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