Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
PPP6R2_chr22_50338327_50450090	50339220	GTGTGTGG others(35): Show GTGTGTGGTGTGTTTACGGTGTGTGTTGTGTGTGTTGTGTGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0027 a0009c0030t0027	a0009c0030t0027g0069 a0009c0030t0027g0069	1	340	0.0029	-42	c.-44 others(53): Show c.-4477_-4436delTGTGTGGTGTGTTTACGGTGTGTGTTGTGTGTGT TGTGTGAT		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding					4106		chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50340459	GGTATGTG others(35): Show GGTATGTGGTGTGTGTCTCGGGTGTGTGTGGTGTGTGTAGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0011 a0011c0032t0011	a0011c0032t0011g0287 a0011c0032t0011g0287	1	340	0.0029	-42	c.-32 others(53): Show c.-3238_-3197delGTATGTGGTGTGTGTCTCGGGTGTGTGTGGTGTG TGTAGGGT		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding					2867		chr22	TogoVar
PRDM15_chr21_41793225_41884344	41805778	CACCAACA others(35): Show CACCAACACCACCACCACCAACACAACCACCTCCATCACCATT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	406	0.0025	-42	c.265 others(61): Show c.2653-1206_2653-1165delAATGGTGATGGAGGTGGTTGTGTTGG TGGTGGTGGTGTTGGT		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM15_chr21_41793225_41884344	41805789	CCACCACC others(35): Show CCACCACCAACACAACCACCTCCATCACCATTACCAACACCAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18966.hp2 NA19081.hp2 HG04199.hp1 NA18966.hp2 NA19081.hp2	a0002 a0002	a0002c0015 a0002c0024 a0002c0015 a0002c0024	a0002c0015t0005 a0002c0024t0005 a0002c0015t0005 a0002c0024t0005	a0002c0015t0005g0216 a0002c0015t0005g0340 a0002c0024t0005g0055 a0002c0015t0005g0216 a0002c0015t0005g0340 a0002c0024t0005g0055	3	406	0.0074	-42	c.265 others(61): Show c.2653-1217_2653-1176delATGGTGTTGGTAATGGTGATGGAGGT GGTTGTGTTGGTGGTG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806370	CTACCACC others(35): Show CTACCACCATCACCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0324 a0001c0023t0003g0324	1	406	0.0025	-42	c.265 others(61): Show c.2653-1798_2653-1757delATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTA		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM16_chr1_3064203_3443621	3194599	ACCACACG others(35): Show ACCACACGCCACCGTCTCCCCACCACACGCCACCGTCTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG00735.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0021g0088 a0001c0001t0021g0089	2	210	0.0095	-42	c.387 others(59): Show c.387+8146_387+8187delACCACACGCCACCGTCTCCCCGCCACAC GCCACCGTCTCCCC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
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 a0004 a0002 a0004	a0002c0002 a0002c0020 a0002c0022 others(1): Show a0002c0002 a0002c0020 a0002c0022 a0004c0004	a0002c0002t0001 a0002c0002t0018 a0002c0002t0067 others(3): Show a0002c0002t0001 a0002c0002t0018 a0002c0002t0067 a0002c0020t0047 a0002c0022t0001 a0004c0004t0029	a0002c0002t0001g0252 a0002c0002t0018g0240 a0002c0002t0018g0241 others(4): Show a0002c0002t0001g0252 a0002c0002t0018g0240 a0002c0002t0018g0241 a0002c0002t0067g0249 a0002c0020t0047g0251 a0002c0022t0001g0250 a0004c0004t0029g0239	7	312	0.0224	-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	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0004 a0004c0004t0009 a0003c0003t0004 a0004c0004t0009	a0003c0003t0004g0018 a0004c0004t0009g0245 a0003c0003t0004g0018 a0004c0004t0009g0245	2	312	0.0064	-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	312	0.0096	-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	312	0.0064	-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 a0007	a0001c0004 a0001c0006 a0002c0002 others(4): Show a0001c0004 a0001c0006 a0002c0002 a0002c0005 a0003c0009 a0004c0012 a0007c0013	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 a0007c0013t0002	a0001c0004t0001g0004 a0001c0004t0001g0006 a0001c0004t0001g0009 others(34): Show a0001c0004t0001g0004 a0001c0004t0001g0006 a0001c0004t0001g0009 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0059 a0001c0004t0002g0162 a0001c0004t0008g0159 a0001c0004t0008g0170 a0001c0004t0008g0171 a0001c0004t0014g0168 a0001c0004t0027g0160 a0001c0006t0002g0151 a0001c0006t0054g0178 a0002c0002t0014g0179 a0002c0002t0014g0180 a0002c0002t0015g0166 a0002c0002t0015g0167 a0002c0002t0027g0169 a0002c0002t0050g0176 a0002c0002t0057g0175 a0002c0002t0058g0181 a0002c0002t0063g0188 a0002c0005t0005g0058 a0002c0005t0013g0152 a0003c0009t0023g0156 a0003c0009t0023g0157 a0003c0009t0036g0005 a0003c0009t0041g0053 a0003c0009t0051g0177 a0003c0009t0053g0163 a0004c0012t0002g0153 a0004c0012t0002g0164 a0007c0013t0002g0161	37	212	0.1745	-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	268	0.0037	-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	300	0.0033	-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	a0001c0001t0001g0249 a0001c0001t0001g0249	1	328	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	a0001c0008t0016g0125 a0001c0008t0016g0125	1	148	0.0068	-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	148	0.0135	-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	148	0.0068	-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	148	0.0068	-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	148	0.0068	-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	a0001c0001t0028g0051 a0001c0005t0008g0027 a0001c0001t0028g0051 a0001c0005t0008g0027	2	148	0.0135	-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	286	0.0455	-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	286	0.0035	-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	286	0.0070	-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	286	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	286	0.0629	-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	286	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 a0002c0002t0004 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0002c0007t0013 a0003c0005t0001	a0001c0001t0001g0017 a0002c0002t0001g0016 a0002c0002t0004g0019 others(3): Show a0001c0001t0001g0017 a0002c0002t0001g0016 a0002c0002t0004g0019 a0002c0002t0009g0008 a0002c0007t0013g0018 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	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0034 a0004c0006t0034	a0004c0006t0034g0001 a0004c0006t0034g0001	1	227	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	a0001c0001t0001g0098 a0001c0001t0001g0098	1	428	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 a0005c0006t0022g0069 a0005c0006t0030g0035 a0005c0006t0031g0035 a0005c0006t0059g0057	15	424	0.0354	-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	a0001c0001t0001g0157 a0001c0001t0001g0157	1	378	0.0027	-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	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0154	47	378	0.1243	-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(9): Show HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG02145.hp2 HG02293.hp1 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG04204.hp1 NA18747.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0031 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0128 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0220	12	378	0.0318	-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	a0001c0002t0002g0209 a0003c0005t0001g0091 a0001c0002t0002g0209 a0003c0005t0001g0091	2	378	0.0053	-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	a0001c0001t0001g0084 a0001c0001t0001g0084	1	378	0.0027	-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	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	378	0.0027	-42	c.260 others(57): Show c.260-665_260-624delCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	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	a0001c0001t0002g0171 a0001c0001t0002g0171	1	378	0.0027	-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	a0001c0001t0001g0166 a0001c0001t0001g0166	1	378	0.0027	-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	T T	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 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0018 a0001c0001t0001g0152 a0001c0001t0001g0156	4	378	0.0106	-42	c.260 others(57): Show c.260-367_260-326delTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	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	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	378	0.0053	-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	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0003 a0005c0004t0001 a0005c0004t0003	a0005c0004t0001g0063 a0005c0004t0003g0005 a0005c0004t0001g0063 a0005c0004t0003g0005	2	386	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	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0059 a0002c0002t0050g0059	1	336	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	a0001c0001t0158 a0001c0001t0164 a0001c0001t0158 a0001c0001t0164	a0001c0001t0158g0054 a0001c0001t0164g0005 a0001c0001t0158g0054 a0001c0001t0164g0005	2	336	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	a0001c0001t0007 a0001c0001t0047 a0001c0001t0055 a0001c0001t0007 a0001c0001t0047 a0001c0001t0055	a0001c0001t0007g0001 a0001c0001t0007g0008 a0001c0001t0007g0012 others(3): Show a0001c0001t0007g0001 a0001c0001t0007g0008 a0001c0001t0007g0012 a0001c0001t0007g0014 a0001c0001t0047g0025 a0001c0001t0055g0004	8	336	0.0238	-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	a0002c0003t0044g0119 a0002c0003t0044g0119	1	228	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	a0001c0001t0001g0022 a0001c0001t0001g0175 a0001c0001t0001g0314 a0001c0001t0001g0022 a0001c0001t0001g0175 a0001c0001t0001g0314	3	364	0.0082	-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	368	0.0380	-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	a0001c0001t0001g0057 a0001c0001t0001g0057	1	461	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	a0002c0002t0002g0184 a0002c0002t0002g0184	1	316	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	a0001c0001t0002g0111 a0001c0001t0002g0111	1	346	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

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