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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRDM6_chr5_123084241_123199266	123089108	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02559.hp1 HG02647.hp1 others(4): Show HG00639.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0020 others(1): Show a0002c0002 a0002c0004 a0002c0020 a0002c0022	a0002c0002t0001 a0002c0002t0018 a0002c0002t0067 others(3): Show a0002c0002t0001 a0002c0002t0018 a0002c0002t0067 a0002c0004t0029 a0002c0020t0047 a0002c0022t0001	a0002c0002t0001g0252 a0002c0002t0018g0240 a0002c0002t0018g0241 others(4): Show a0002c0002t0001g0252 a0002c0002t0018g0240 a0002c0002t0018g0241 a0002c0002t0067g0249 a0002c0004t0029g0239 a0002c0020t0047g0251 a0002c0022t0001g0250	7	301	0.0233	-42	c.-42 others(51): Show c.-426_-385delCTCTCTCTCTCTCTCTCTCACACACACACACACACA CACACA		PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding					132		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089110	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA18953.hp1 HG03516.hp2 NA18953.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0003 a0002c0004 a0003c0003	a0002c0004t0009 a0003c0003t0004 a0002c0004t0009 a0003c0003t0004	a0002c0004t0009g0245 a0003c0003t0004g0019 a0002c0004t0009g0245 a0003c0003t0004g0019	2	296	0.0068	-42	c.-42 others(51): Show c.-424_-383delCTCTCTCTCTCTCTCTCACACACACACACACACACA CACACA		PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding					130		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089114	TCTCTCTC others(35): Show TCTCTCTCTCTCTCACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 NA20129.hp1 HG02055.hp2 HG02109.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0285 a0002c0002t0006g0286 a0002c0002t0006g0288 a0002c0002t0006g0285 a0002c0002t0006g0286 a0002c0002t0006g0288	3	278	0.0108	-42	c.-42 others(51): Show c.-420_-379delCTCTCTCTCTCTCACACACACACACACACACACACA CACACA		PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding					126		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089116	TCTCTCTC others(35): Show TCTCTCTCTCTCACACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02602.hp1 HG01928.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0001 a0001c0001t0032g0001 a0001c0001t0003g0001 a0001c0001t0032g0001	2	260	0.0077	-42	c.-41 others(51): Show c.-418_-377delCTCTCTCTCTCACACACACACACACACACACACACA CACACA		PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding					124		chr5	TogoVar
PREP_chr6_105268218_105408082	105374632	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(34): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01515.hp1 HG02135.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0004 a0001c0006 a0002c0002 others(4): Show a0001c0004 a0001c0006 a0002c0002 a0002c0005 a0003c0009 a0004c0012 a0005c0013	a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 others(20): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0014 a0001c0004t0027 a0001c0006t0002 a0001c0006t0054 a0002c0002t0014 a0002c0002t0015 a0002c0002t0027 a0002c0002t0050 a0002c0002t0057 a0002c0002t0058 a0002c0002t0063 a0002c0005t0005 a0002c0005t0013 a0003c0009t0023 a0003c0009t0036 a0003c0009t0041 a0003c0009t0051 a0003c0009t0053 a0004c0012t0002 a0005c0013t0002	a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0010 others(34): Show a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0014 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0060 a0001c0004t0002g0161 a0001c0004t0008g0158 a0001c0004t0008g0169 a0001c0004t0008g0170 a0001c0004t0014g0167 a0001c0004t0027g0159 a0001c0006t0002g0150 a0001c0006t0054g0177 a0002c0002t0014g0178 a0002c0002t0014g0179 a0002c0002t0015g0165 a0002c0002t0015g0166 a0002c0002t0027g0168 a0002c0002t0050g0175 a0002c0002t0057g0174 a0002c0002t0058g0180 a0002c0002t0063g0187 a0002c0005t0005g0059 a0002c0005t0013g0151 a0003c0009t0023g0155 a0003c0009t0023g0156 a0003c0009t0036g0006 a0003c0009t0041g0054 a0003c0009t0051g0176 a0003c0009t0053g0162 a0004c0012t0002g0152 a0004c0012t0002g0163 a0005c0013t0002g0160	37	45	0.8222	-42	c.386 others(59): Show c.386-1096_386-1055delTATATATATATATATATATATATATATA TATATATATATATA		PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	4/14						chr6	TogoVar
PREX1_chr20_48619252_48832999	48735597	ATAGTACA others(35): Show ATAGTACAGGCTGCCCAGCATGTAGTACAGGCTGCCCAGCATG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0127 a0002c0013t0003g0127	1	259	0.0039	-42	c.415 others(57): Show c.415-989_415-948delCATGCTGGGCAGCCTGTACTACATGCTGGG CAGCCTGTACTA		PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	3/39						chr20	TogoVar
PRICKLE1_chr12_42451757_42594746	42493410	GGCTTATA others(35): Show GGCTTATAAGATCTGATAGGGTAATGGTTAACCAGAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	298	0.0034	-42	c.-48 others(61): Show c.-48-20888_-48-20847delTTTTTTTTCTGGTTAACCATTACCCT ATCAGATCTTATAAGC		PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7						chr12	TogoVar
PRIMPOL_chr4_184644738_184699952	184677020	CTCCCTTC others(35): Show CTCCCTTCCCCCTTCCCTTCCCTTCTCCCCTCCCCTTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	326	0.0031	-42	c.845 others(59): Show c.845-1205_845-1164delCCCCCTTCCCTTCCCTTCTCCCCTCCCC TTCCCCTTTCCCTT		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCB_chr16_23830983_24225611	23865491	ATATATAT others(35): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0118 a0001c0008t0016g0118	1	138	0.0072	-42	c.205 others(61): Show c.205+28087_205+28128delATATATATATATATATATATATATAT GTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865493	ATATATAT others(35): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03453.hp2 HG02602.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0066 a0001c0004t0077 a0001c0001t0066 a0001c0004t0077	a0001c0001t0066g0007 a0001c0004t0077g0091 a0001c0001t0066g0007 a0001c0004t0077g0091	2	124	0.0161	-42	c.205 others(61): Show c.205+28089_205+28130delATATATATATATATATATATATATGT GTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865499	ATATATAT others(35): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0133 a0001c0016t0004g0133	1	135	0.0074	-42	c.205 others(61): Show c.205+28095_205+28136delATATATATATATATATATGTGTGTGT GTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865501	ATATATAT others(35): Show ATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	143	0.0070	-42	c.205 others(61): Show c.205+28097_205+28138delATATATATATATATATGTGTGTGTGT GTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865507	ATATATAT others(35): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	144	0.0069	-42	c.205 others(61): Show c.205+28103_205+28144delATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24113274	CTCTTGCT others(35): Show CTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0028 a0001c0005t0008 a0001c0001t0028 a0001c0005t0008	a0001c0001t0028g0048 a0001c0005t0008g0027 a0001c0001t0028g0048 a0001c0005t0008g0027	2	145	0.0138	-42	c.918 others(57): Show c.918+217_918+258delCTTGCTTGCTTTCTCGCTTTCTTCCTTTCT GTCTTGCTTTCT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2106829	ACCTCCAC others(35): Show ACCTCCACACGTGTCACCAGGCCAGGCGACTCTTCAGCAAGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00733.hp2 others(10): Show HG00140.hp2 HG00733.hp1 HG00733.hp2 HG01255.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG02257.hp2 HG02451.hp2 HG02970.hp1 HG03579.hp2 HG03831.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0003t0001g0062 others(10): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0003t0001g0062 a0001c0003t0001g0128 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0147 a0001c0003t0001g0250 a0001c0003t0001g0258 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0003g0212 a0001c0003t0010g0195	13	284	0.0458	-42	c.335 others(61): Show c.335-28407_335-28366delCGACTCTTCAGCAAGCCCCTCCACAC GTGTCACCAGGCCAGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122141	GGTGGTTA others(35): Show GGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	258	0.0039	-42	c.335 others(61): Show c.335-13115_335-13074delTAGGGTCGTGGTGGTTAGGGTCGTGG TGGTTAGGGTTGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122685	GGTGGTTA others(35): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02056.hp1 HG01070.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0079 a0001c0003t0001g0132 a0001c0001t0004g0079 a0001c0003t0001g0132	2	249	0.0080	-42	c.335 others(61): Show c.335-12571_335-12530delTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2141962	CTTTCACT others(35): Show CTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	284	0.0035	-42	c.421 others(59): Show c.421-2206_421-2165delTTTTCACTCCAGGGTCCACACATCCAGC AGCCGAAGCGCCTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2142275	ACATCCAG others(35): Show ACATCCAGCAGCCGAAGCGCCTCCTTTCACTCTAGGGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01891.hp2 others(15): Show HG01099.hp1 HG01243.hp2 HG01891.hp2 HG02109.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03704.hp2 HG03942.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0001g0105 others(15): Show a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0005g0047 a0001c0001t0015g0014 a0001c0003t0001g0155 a0001c0003t0001g0194 a0001c0003t0004g0156	18	284	0.0634	-42	c.421 others(59): Show c.421-1906_421-1865delCTCTAGGGTCCAGGCATCCAGCAGCCGA AGCGCCTCCTTTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2178476	TGTGCTGC others(35): Show TGTGCTGCCGTGAACACCTGTGAACCCGCTTCTGGGTGGACTC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0196 a0001c0003t0001g0196	1	284	0.0035	-42	c.157 others(61): Show c.1575+3171_1575+3212delCGTGAACACCTGTGAACCCGCTTCTG GGTGGACTCGTGCTGC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162498397	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCTTTCCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01884.hp1 others(3): Show HG01192.hp2 HG01361.hp2 HG01884.hp1 HG02602.hp1 HG03195.hp2 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0007t0012 a0003c0005t0001	a0001c0001t0001g0017 a0002c0002t0001g0016 a0002c0002t0003g0019 others(3): Show a0001c0001t0001g0017 a0002c0002t0001g0016 a0002c0002t0003g0019 a0002c0002t0007g0008 a0002c0007t0012g0018 a0003c0005t0001g0015	6	32	0.1875	-42	c.8-5 others(57): Show c.8-54966_8-54925delGAAAAAGGAAAGAAACTCCATCTCAAAAAA AAAAAAAAAAAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKX_chrX_3599340_3718649	3639228	GGTGGGTG others(35): Show GGTGGGTGGATGGATGAAGGGGTAGGTGGGTGGATGGATGGAT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0001 a0001c0001t0035g0001	1	225	0.0044	-42	c.719 others(59): Show c.719+2582_719+2623delATCCATCCATCCACCCACCTACCCCTTC ATCCATCCACCCAC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRODH2_chr19_35794988_35817845	35815745	TCAACCTC others(35): Show TCAACCTCCCAGGCTCAGGTGATCCTCCCACCTCTGCCTCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	426	0.0023	-42	c.-29 others(53): Show c.-2982_-2941delTGGGAGGCAGAGGTGGGAGGATCACCTGAGCCTG GGAGGTTG		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding					2901		chr19	TogoVar
PROSER3_chr19_35753176_35776166	35767389	AGCTCCCC others(35): Show AGCTCCCCTGGCCTCCACCCTTGCACCCCCAGCCTCCACCCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02486.hp2 HG02572.hp2 others(12): Show HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp1 NA18947.hp2 NA18966.hp1 NA18997.hp1 NA19012.hp2 NA19056.hp2 NA19074.hp2 NA19090.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0022 a0005c0006t0030 others(2): Show a0005c0006t0010 a0005c0006t0022 a0005c0006t0030 a0005c0006t0031 a0005c0006t0059	a0005c0006t0010g0014 a0005c0006t0010g0039 a0005c0006t0010g0055 others(6): Show a0005c0006t0010g0014 a0005c0006t0010g0039 a0005c0006t0010g0055 a0005c0006t0010g0056 a0005c0006t0010g0066 a0005c0006t0022g0068 a0005c0006t0030g0035 a0005c0006t0031g0035 a0005c0006t0059g0057	15	421	0.0356	-42	c.128 others(51): Show c.1289_1330delCCACCCTTGCACCCCCAGCCTCCACCCCGGCTCCCC TGGCCT	p.Ser others(13): Show p.Ser430_Ala443del	PROSER3	ENSG00000167595.16	transcript	ENST00000646935.2	protein_coding	9/11	1329/4836	1289/2175	430/724		INFO_REALIGN_3_PRIME	chr19	TogoVar
PROZ_chr13_113153648_113177386	113161888	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	321	0.0031	-42	c.259 others(57): Show c.259+958_259+999delCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161970	CCACATCC others(35): Show CCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00609.hp2 others(44): Show HG00140.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01433.hp1 HG01952.hp1 HG01975.hp2 HG02056.hp1 HG02129.hp1 HG02165.hp2 HG02486.hp2 HG03486.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18975.hp1 NA18975.hp2 NA18985.hp2 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0146	47	356	0.1320	-42	c.260 others(58): Show c.260-1014_260-973delTCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162056	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01167.hp2 others(8): Show HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG02145.hp2 HG02293.hp1 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG04204.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0224	11	315	0.0349	-42	c.260 others(57): Show c.260-930_260-889delTCGTCCCTGCCACCTCCCCCCATCCTCCTC CTGCTCAGGTCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162098	CCATCCTC others(35): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03831.hp1 HG03579.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0001 a0001c0002t0002 a0003c0005t0001	a0001c0002t0002g0214 a0003c0005t0001g0116 a0001c0002t0002g0214 a0003c0005t0001g0116	2	149	0.0134	-42	c.260 others(57): Show c.260-827_260-786delACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162182	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	338	0.0030	-42	c.260 others(57): Show c.260-791_260-750delGTCCCCCCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162224	CCATCCTC others(35): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	146	0.0068	-42	c.260 others(57): Show c.260-785_260-744delCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7						chr13	TogoVar
PROZ_chr13_113153648_113177386	113162392	TCATCCTC others(35): Show TCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	59	0.0169	-42	c.260 others(57): Show c.260-455_260-414delCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162560	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	352	0.0028	-42	c.260 others(57): Show c.260-413_260-372delGTCCCCTCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162602	TCATCCTC others(35): Show TCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCA	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03453.hp1 HG04204.hp1 others(1): Show HG01071.hp1 HG03453.hp1 HG04204.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0018 a0001c0001t0001g0029	4	183	0.0219	-42	c.260 others(57): Show c.260-407_260-366delTCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCTC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7						chr13	TogoVar
PROZ_chr13_113153648_113177386	113162728	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02040.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	233	0.0086	-42	c.260 others(57): Show c.260-248_260-207delCACGTCCCCCCATCCTCCTCCTGCTCAGGT CCCCGTCCCTGC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PRR36_chr19_7863719_7879390	7878090	GCATATAT others(35): Show GCATATATACATATATACATATATACGTGTATACGCATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG02976.hp2 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0001 a0004c0004t0003	a0004c0004t0001g0056 a0004c0004t0003g0006 a0004c0004t0001g0056 a0004c0004t0003g0006	2	384	0.0052	-42	c.-38 others(53): Show c.-3854_-3813delTATATATGCGTATACACGTATATATGTATATATG TATATATG		PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding					3701		chr19	TogoVar
PRRG3_chrX_151690458_151710924	151703876	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	332	0.0030	-42	c.28 others(53): Show c.2845_*2886delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGTGTGT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2845	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703878	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG02615.hp1 HG00280.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0077 a0001c0001t0024 a0001c0001t0077	a0001c0001t0024g0005 a0001c0001t0077g0049 a0001c0001t0024g0005 a0001c0001t0077g0049	2	332	0.0060	-42	c.28 others(53): Show c.2847_*2888delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GTGTGTGT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2847	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703880	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG01981.hp1 HG02148.hp2 others(5): Show HG00597.hp2 HG01981.hp1 HG02148.hp2 NA18979.hp2 NA18985.hp1 NA19012.hp1 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0044 a0001c0001t0002 a0001c0001t0029 a0001c0001t0044	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0011 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0029g0004 a0001c0001t0044g0024	8	334	0.0240	-42	c.28 others(53): Show c.2849_*2890delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT GTGTGTGT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2849	INFO_REALIGN_3_PRIME	chrX	TogoVar
PSD3_chr8_18522303_19018703	18977572	AGAGAGAT others(35): Show AGAGAGATTTGTCTTTTGAAAATACAAAATTGTATTCTGATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0044 a0002c0003t0044	a0002c0003t0044g0121 a0002c0003t0044g0121	1	226	0.0044	-42	c.21+ others(59): Show c.21+35949_21+35990delATATCAGAATACAATTTTGTATTTTCAA AAGACAAATCTCTC		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15						chr8	TogoVar
PSMD1_chr2_231051867_231177827	231165024	TTATATAT others(35): Show TTATATATATTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18942.hp2 NA21309.hp2 HG03710.hp2 NA18942.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0176 a0001c0001t0001g0313 a0001c0001t0001g0025 a0001c0001t0001g0176 a0001c0001t0001g0313	3	151	0.0199	-42	c.248 others(59): Show c.2482-166_2482-125delTTATATATATATATATATATATATATAT ATATATATATATAT		PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMG3_chr7_1562332_1575032	1564871	GATCCTGA others(35): Show GATCCTGAGCCGCCCCCCGACAGGTCCCCTTCCTCTGGCAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG02055.hp1 others(11): Show HG01081.hp2 HG01496.hp1 HG02055.hp1 HG02280.hp1 HG02572.hp2 HG02630.hp2 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0002g0046	14	366	0.0383	-42	c.27 others(53): Show c.2785_*2826delGACTGCCAGAGGAAGGGGACCTGTCGGGGGGCGG CTCAGGAT		PSMG3	ENSG00000157778.9	transcript	ENST00000288607.3	protein_coding					2460		chr7	TogoVar
PSORS1C2_chr6_31132534_31144066	31139817	AGCCCCTT others(35): Show AGCCCCTTCCTCCTCCCTCAGGAATCCACCTATCCGCCTCTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	460	0.0022	-42	c.-83 others(51): Show c.-833_-792delCTAGAGGCGGATAGGTGGATTCCTGAGGGAGGAGGA AGGGGC		PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding					752		chr6	TogoVar
PSTPIP2_chr18_45978536_46077260	46075948	CAGCTAAT others(35): Show CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	314	0.0032	-42	c.-38 others(53): Show c.-3802_-3761delACAGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCT		PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding					3689		chr18	TogoVar
PTDSS2_chr11_445279_496399	482934	GGTTCTGT others(35): Show GGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	342	0.0029	-42	c.435 others(59): Show c.435+3819_435+3860delCAGAAAGTTCTGTGAGTTTTTCGTAGAT CTCCCTACCGAGTG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	482976	AGTTCTGT others(35): Show AGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18995.hp2 HG01192.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0206 a0001c0002t0001g0139 a0001c0001t0001g0206 a0001c0002t0001g0139	2	207	0.0097	-42	c.436 others(59): Show c.436-3632_436-3591delGAGAAGGTTCTGTGAGTTTTTCGTAGAT CTCCCTACCGAGTG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	485547	GTGCACGG others(35): Show GTGCACGGGCGCGTGTGCTCACCGTGTGCGCAGGCGTGTAAAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0010t0002	a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(84): Show a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0195 a0001c0001t0002g0297 a0001c0001t0003g0010 a0001c0001t0003g0037 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0115 a0001c0001t0007g0057 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0009g0034 a0001c0001t0009g0058 a0001c0001t0009g0061 a0001c0001t0016g0107 a0001c0001t0017g0060 a0001c0010t0002g0084	93	344	0.2703	-42	c.436 others(59): Show c.436-1370_436-1329delCGTGTGCGCAGGCGTGTAAACTGCACGG GCGCGTGTGCTCAC		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTH1R_chr3_46872721_46908799	46884065	ATCATCCA others(35): Show ATCATCCAGGCAGGGGGTAGGATTTAGGGGCCCCCTCCAGCCC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	354	0.0028	-42	c.75+ others(55): Show c.75+435_75+476delTCCAGGCAGGGGGTAGGATTTAGGGGCCCCCT CCAGCCCTCA		PTH1R	ENSG00000160801.14	transcript	ENST00000449590.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(35): Show AATATATATATATATATATATATTATATTATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG03579.hp1 NA18978.hp2 HG02055.hp1 HG03579.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0002 a0001c0001t0001g0265 a0001c0001t0001g0273	3	287	0.0105	-42	c.69 others(51): Show c.697_*738delATATATATATATATAATATAATATATATATATATAT ATATAT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				697		chr1	TogoVar
PTPN14_chr1_214343700_214556602	214436800	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAGGTTTGTCAGAATATTAGCTCTCAGGAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00639.hp1 others(72): Show HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18963.hp1 NA18972.hp1 NA18972.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19065.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0018 a0001c0023 a0001c0025 a0002c0003 a0003c0005 a0003c0016 a0004c0004 a0006c0012 a0007c0011 a0008c0009 a0012c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(60): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0049 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0068 a0001c0001t0122 a0001c0001t0123 a0001c0001t0125 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0165 a0001c0001t0176 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0078 a0001c0002t0082 a0001c0002t0090 a0001c0002t0142 a0001c0006t0001 a0001c0006t0076 a0001c0008t0009 a0001c0010t0126 a0001c0018t0013 a0001c0023t0166 a0001c0025t0146 a0002c0003t0031 a0002c0003t0144 a0002c0003t0169 a0002c0003t0181 a0003c0005t0063 a0003c0005t0064 a0003c0005t0065 a0003c0016t0001 a0004c0004t0005 a0004c0004t0069 a0004c0004t0072 a0004c0004t0074 a0004c0004t0172 a0006c0012t0026 a0007c0011t0161 a0008c0009t0033 a0008c0009t0034 a0012c0020t0054	a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0098 others(72): Show a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0129 a0001c0001t0003g0006 a0001c0001t0003g0130 a0001c0001t0004g0047 a0001c0001t0005g0168 a0001c0001t0008g0065 a0001c0001t0008g0069 a0001c0001t0009g0064 a0001c0001t0015g0087 a0001c0001t0016g0068 a0001c0001t0023g0201 a0001c0001t0026g0192 a0001c0001t0028g0243 a0001c0001t0028g0246 a0001c0001t0037g0054 a0001c0001t0039g0005 a0001c0001t0040g0148 a0001c0001t0045g0139 a0001c0001t0049g0132 a0001c0001t0055g0141 a0001c0001t0058g0048 a0001c0001t0059g0163 a0001c0001t0061g0103 a0001c0001t0068g0162 a0001c0001t0122g0225 a0001c0001t0123g0223 a0001c0001t0125g0216 a0001c0001t0134g0203 a0001c0001t0135g0228 a0001c0001t0136g0214 a0001c0001t0137g0202 a0001c0001t0138g0232 a0001c0001t0165g0250 a0001c0001t0176g0261 a0001c0002t0001g0003 a0001c0002t0001g0045 a0001c0002t0001g0140 a0001c0002t0001g0152 a0001c0002t0006g0044 a0001c0002t0006g0176 a0001c0002t0012g0213 a0001c0002t0012g0224 a0001c0002t0078g0063 a0001c0002t0082g0146 a0001c0002t0090g0122 a0001c0002t0142g0215 a0001c0006t0001g0170 a0001c0006t0076g0072 a0001c0008t0009g0076 a0001c0010t0126g0229 a0001c0018t0013g0025 a0001c0023t0166g0256 a0001c0025t0146g0236 a0002c0003t0031g0186 a0002c0003t0144g0197 a0002c0003t0169g0254 a0002c0003t0181g0262 a0003c0005t0063g0012 a0003c0005t0064g0187 a0003c0005t0065g0083 a0003c0016t0001g0035 a0004c0004t0005g0081 a0004c0004t0069g0008 a0004c0004t0072g0007 a0004c0004t0074g0082 a0004c0004t0172g0269 a0006c0012t0026g0237 a0007c0011t0161g0249 a0008c0009t0033g0157 a0008c0009t0034g0084 a0012c0020t0054g0185	75	270	0.2778	-42	c.344 others(61): Show c.344+14963_344+15004delATCCTGAGAGCTAATATTCTGACAAA CCTTTTTTTTTTTTTT		PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	3/18						chr1	TogoVar
PTPRR_chr12_70633079_70925738	70733440	AAAAAAGA others(35): Show AAAAAAGAAAGAAAAAAAGAAAAATTATGGCAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(101): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02451.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18975.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0010 a0013 a0014 a0015 a0016	a0001c0001 a0001c0004 a0003c0003 others(8): Show a0001c0001 a0001c0004 a0003c0003 a0004c0005 a0004c0022 a0006c0007 a0010c0018 a0013c0020 a0014c0014 a0015c0015 a0016c0019	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0003c0003t0001 a0004c0005t0001 a0004c0022t0001 a0006c0007t0001 a0010c0018t0001 a0013c0020t0002 a0014c0014t0001 a0015c0015t0001 a0016c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 others(101): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0005g0203 a0001c0004t0001g0041 a0001c0004t0001g0134 a0001c0004t0001g0168 a0001c0004t0001g0179 a0003c0003t0001g0195 a0004c0005t0001g0012 a0004c0005t0001g0038 a0004c0005t0001g0091 a0004c0005t0001g0149 a0004c0005t0001g0165 a0004c0022t0001g0056 a0006c0007t0001g0073 a0006c0007t0001g0082 a0006c0007t0001g0083 a0006c0007t0001g0089 a0010c0018t0001g0087 a0013c0020t0002g0136 a0014c0014t0001g0006 a0015c0015t0001g0190 a0016c0019t0001g0020	104	202	0.5149	-42	c.100 others(63): Show c.1007+12336_1007+12377delCTTTTTTTTTTTGCCATAATTTTT CTTTTTTTCTTTCTTTTT		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	6/13						chr12	TogoVar

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