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
PLCXD1_chrX_276381_308356	298043	A A	ACATTATT others(42): Show ACATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	176	0.0057	49	c.734 others(66): Show c.734-1040_734-1039insCCTCATGGGGATTAGGACGTGGACATCT TTGGGGCCATTATTCTGTCTA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298060	A A	ACATGGGA others(42): Show ACATGGGAATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0106 a0002c0005t0106	a0002c0005t0106g0077 a0002c0005t0106g0077	1	176	0.0057	49	c.734 others(66): Show c.734-1031_734-1030insAATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298148	T T	TCTGTCTA others(42): Show TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	176	0.0057	49	c.734 others(64): Show c.734-908_734-907insCCATTATCCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298239	A A	ACATTATC others(42): Show ACATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0074 a0001c0001t0015g0074	1	176	0.0057	49	c.734 others(64): Show c.734-852_734-851insCCTGTCTATCACATGGGGATTAGGACGTGG ACATCTTTGGGGCCATTAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298418	C C	CGTGGACA others(42): Show CGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0071 a0001c0003t0051g0071	1	176	0.0057	49	c.734 others(64): Show c.734-663_734-662insCCATTATTCTGTCTATCACATGGGGATTAG GATGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298540	T T	TCTGTCTA others(42): Show TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0074 a0001c0001t0015g0074	1	176	0.0057	49	c.734 others(64): Show c.734-516_734-515insACATTATCCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG1_chr6_150594885_150848665	150810527	A A	AAAGAAAG others(42): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp2 HG02109.hp2 HG03195.hp2	a0001 a0015 a0001 a0015	a0001c0026 a0015c0057 a0001c0026 a0015c0057	a0001c0026t0001 a0015c0057t0001 a0001c0026t0001 a0015c0057t0001	a0001c0026t0001g0213 a0015c0057t0001g0227 a0001c0026t0001g0213 a0015c0057t0001g0227	2	272	0.0074	49	c.127 others(66): Show c.1278+804_1278+805insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAGGAAGAAAGAAAG	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	135682	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0031 a0031	a0031c0026 a0031c0026	a0031c0026t0060 a0031c0026t0060	a0031c0026t0060g0169 a0031c0026t0060g0169	1	210	0.0048	49	c.244 others(66): Show c.244-3800_244-3799insAAAAATATATATATATATATATATATAT ACATATATATATATATATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG7_chr12_92697989_92777455	92728016	A A	AATATATA others(42): Show AATATATATACACATATATACACACACCACATTCCATGGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 NA18906.hp1 HG01884.hp2 HG02258.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0005 a0002c0003t0014 a0002c0002t0005 a0002c0003t0014	a0002c0002t0005g0144 a0002c0002t0005g0147 a0002c0003t0014g0143 a0002c0002t0005g0144 a0002c0002t0005g0147 a0002c0003t0014g0143	3	252	0.0119	49	c.531 others(64): Show c.531-964_531-963insTATATACACACACCACATTCCATGGTGTAT ATATACATATATATACACA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92728020	T T	TATATACA others(42): Show TATATACACATATATACACACACCACATTCCATGGTGTATATATAAATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02976.hp1 HG02895.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0013 a0003c0004t0005 a0003c0004t0013	a0003c0004t0005g0225 a0003c0004t0013g0226 a0003c0004t0005g0225 a0003c0004t0013g0226	2	252	0.0079	49	c.531 others(64): Show c.531-964_531-963insTATATACACACACCACATTCCATGGTGTAT ATATAAATACATATACACA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLIN4_chr19_4497192_4523486	4509316	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0004 a0020c0022t0004	a0020c0022t0004g0075 a0020c0022t0004g0075	1	412	0.0024	49	c.351 others(66): Show c.3515-362_3515-361insGTTTGTTTGTTTGTTTTTTTGTTTTTTT TTGTTTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLPP2_chr19_276043_296403	282482	T T	TGTGCACC others(42): Show TGTGCACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02486.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02809.hp1 HG03041.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0092 a0002c0002t0001g0138 a0001c0001t0001g0013 a0001c0001t0001g0092 a0002c0002t0001g0138	6	354	0.0170	49	c.541 others(64): Show c.541-173_541-172insCAGGCTAACACGTCTGTGCAGGGGGAGGGG GAGCGCCTGGCAGGTGCAC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5			chr19	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGC others(42): Show GGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	354	0.0028	49	c.-26 others(58): Show c.-269_-268insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AAGAAAGA others(42): Show AAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02145.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0306 a0001c0002t0001g0303 a0001c0001t0007g0306 a0001c0002t0001g0303	2	336	0.0060	49	c.140 others(68): Show c.140-19897_140-19896insCTTTCTTTCTCTTTCTTTCTTTTCTT TCTTTCTTTCCTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 homoSapiens_chm13v2.hp1 HG01433.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0171 a0001c0003t0004g0170 a0001c0001t0001g0171 a0001c0003t0004g0170	2	336	0.0060	49	c.140 others(68): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCCTTCTTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02630.hp2 others(3): Show HG01515.hp1 HG01517.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0003g0042 a0001c0001t0003g0043 others(3): Show a0001c0001t0001g0127 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0146	6	336	0.0179	49	c.140 others(68): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCCTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078154	A A	AGGGGGAG others(42): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	203	0.0049	49	c.-46 others(68): Show c.-46+49053_-46+49054insGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAAGGGGGAGGGGGAGGGGGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17349182	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCCTTTCCTTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	436	0.0023	49	c.31 others(60): Show c.3179_*3180insAGGAAAGGAAAGGAAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2272		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	19966393	T T	TAAAATAT others(42): Show TAAAATATATATGTGCACATATATAAAAAATATATATGTGCACATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(24): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG02080.hp1 HG02129.hp2 HG03017.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18964.hp1 NA18973.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(20): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0057 a0001c0001t0058 a0001c0001t0095 a0001c0001t0103 a0001c0001t0117 a0001c0001t0122 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0049 a0002c0002t0052 a0003c0003t0008 a0003c0003t0009 a0003c0003t0018 a0003c0003t0023 a0003c0003t0079 a0003c0003t0107 a0003c0003t0108	a0001c0001t0003g0178 a0001c0001t0004g0128 a0001c0001t0015g0164 others(24): Show a0001c0001t0003g0178 a0001c0001t0004g0128 a0001c0001t0015g0164 a0001c0001t0016g0033 a0001c0001t0016g0034 a0001c0001t0021g0101 a0001c0001t0057g0162 a0001c0001t0058g0041 a0001c0001t0095g0100 a0001c0001t0103g0130 a0001c0001t0117g0060 a0001c0001t0122g0051 a0002c0002t0002g0017 a0002c0002t0005g0040 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0007g0058 a0002c0002t0049g0069 a0002c0002t0052g0174 a0003c0003t0008g0114 a0003c0003t0009g0020 a0003c0003t0018g0091 a0003c0003t0018g0098 a0003c0003t0023g0066 a0003c0003t0079g0090 a0003c0003t0107g0070 a0003c0003t0108g0036	27	180	0.1500	49	c.113 others(68): Show c.113-35381_113-35333dupAAAATATATATGTGCACATATATAAA AAATATATATGTGCACATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208246100	T T	TAATTGAT others(42): Show TAATTGATAAAGCTCCAAGCTGAAAATTAGGGCCCTCTGGTTCTAAATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0126 a0006c0020t0001g0126	1	312	0.0032	49	c.-25 others(60): Show c.-2539_-2538insTGATTTAGAACCAGAGGGCCCTAATTTTCAGCTT GGAGCTTTATCAATT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding		1717		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(42): Show GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0156 a0004c0004t0002g0156	1	302	0.0033	49	c.-29 others(58): Show c.-295_-294insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCCTC CCCCCTCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307785	G G	GAGGGGGA others(42): Show GAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	302	0.0033	49	c.-30 others(58): Show c.-307_-306insTCCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCC CTCCCCTCCCCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		140		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594386	T T	TGGGGGAG others(42): Show TGGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGGGGGGGGTGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	49	c.-45 others(60): Show c.-4582_-4581insCACCCCCACACCCCCCCCCGCCTCCCCCACCCCC CCCACCGCCTCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4547		chr22	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	408	0.0025	49	c.-95 others(58): Show c.-956_-955insATATATATATATATATATATATATATATATATATAT ATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNMA5_chrX_152983824_152999116	152998659	T T	TATATTAT others(42): Show TATATTATATATTATATAATATATAATATATAATATATATTATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18980.hp1 NA18943.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	286	0.0070	49	c.-49 others(60): Show c.-4957_-4956insTATATAAATAATATATATTATATATTATATATTA TATAATATATAATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4544		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153391402	C C	CACCACAC others(42): Show CACCACACACCATGCACACCACGCACACACACACCACACACACCACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	346	0.0029	49	c.55 others(60): Show c.5503_*5504insATGTGTGGTGTGTGTGGTGTGTGTGTGCGTGGTG TGCATGGTGTGTGGT	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4236		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(42): Show CCTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02559.hp1 HG02886.hp2 others(5): Show HG02040.hp2 HG02559.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03471.hp2 HG03486.hp2 NA21309.hp1	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0012 a0015 a0048	a0001c0027 a0002c0003 a0010c0013 others(4): Show a0001c0027 a0002c0003 a0010c0013 a0010c0030 a0012c0012 a0015c0014 a0048c0041	a0001c0027t0001 a0002c0003t0001 a0010c0013t0001 others(4): Show a0001c0027t0001 a0002c0003t0001 a0010c0013t0001 a0010c0030t0001 a0012c0012t0002 a0015c0014t0001 a0048c0041t0001	a0001c0027t0001g0170 a0002c0003t0001g0052 a0010c0013t0001g0151 others(5): Show a0001c0027t0001g0170 a0002c0003t0001g0052 a0010c0013t0001g0151 a0010c0030t0001g0124 a0012c0012t0002g0164 a0012c0012t0002g0165 a0015c0014t0001g0158 a0048c0041t0001g0183	8	188	0.0426	49	c.303 others(66): Show c.3039+424_3039+472dupTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503854	A A	AAAGAAGA others(42): Show AAAGAAGAATGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0042 a0042	a0042c0062 a0042c0062	a0042c0062t0001 a0042c0062t0001	a0042c0062t0001g0091 a0042c0062t0001g0091	1	188	0.0053	49	c.147 others(68): Show c.1473+1759_1473+1760insCTTCTTCTTTCTTCTTCTTCTTCTTC TCTTCTTCTTCTTCATTCTTCTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55650902	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18946.hp2 NA18984.hp1 others(3): Show NA18612.hp2 NA18946.hp2 NA18984.hp1 NA19078.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0032 a0003c0003t0004 a0003c0003t0032	a0003c0003t0004g0098 a0003c0003t0004g0102 a0003c0003t0004g0103 others(3): Show a0003c0003t0004g0098 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0004g0104 a0003c0003t0004g0105 a0003c0003t0032g0109	6	390	0.0154	49	c.149 others(68): Show c.1496-3498_1496-3450dupTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	18/27			chr2	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	340	0.0029	49	c.438 others(64): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POR_chr7_75910155_75991855	75952072	T T	TGGCTGGC others(42): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp1 HG02148.hp1 others(4): Show HG00609.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp2 NA18747.hp2 NA19005.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0002c0001t0002 a0001c0002t0001 a0001c0004t0001 a0002c0001t0002	a0001c0002t0001g0136 a0001c0004t0001g0178 a0002c0001t0002g0105 others(4): Show a0001c0002t0001g0136 a0001c0004t0001g0178 a0002c0001t0002g0105 a0002c0001t0002g0173 a0002c0001t0002g0174 a0002c0001t0002g0175 a0002c0001t0002g0176	7	278	0.0252	49	c.-13 others(66): Show c.-13-1916_-13-1868dupGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGAAGGCC others(42): Show AGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	278	0.0036	49	c.22 others(60): Show c.2284_*2285insGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGG GTGGGGGGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75989077	T T	TGGAGGGG others(42): Show TGGAGGGGTGGAGGTTGAGGGGGGGGGGAGGGGGGTGGAGGTTGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0114 a0012c0025t0001g0114	1	278	0.0036	49	c.25 others(60): Show c.2596_*2597insGGAGGGGTGGAGGTTGAGGGGGGGGGGAGGGGGG TGGAGGTTGAGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2223		chr7	TogoVar
POU6F2_chr7_38972909_39473601	39015982	G G	GATATATA others(42): Show GATATATATTATATATTATATATATTATATATAGATATATATTATATATT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0137 a0002c0008t0006g0137	1	170	0.0059	49	c.105 others(68): Show c.105+37932_105+37933insTATATATTATATATATTATATATAGA TATATATTATATATTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPARA_chr22_46145526_46248755	46174266	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01071.hp1 others(33): Show HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01169.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02683.hp2 HG02698.hp2 HG03098.hp1 HG03209.hp1 HG04184.hp1 HG06807.hp2 NA18948.hp1 NA18966.hp1 NA18974.hp1 NA18974.hp2 NA18993.hp1 NA19030.hp1 NA19068.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0001t0030 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0001t0055 a0001c0001t0069 a0001c0007t0072 a0002c0002t0021 a0002c0002t0043 a0002c0002t0056 a0003c0003t0010 a0003c0003t0059 a0004c0008t0013 a0005c0009t0009	a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0070 others(32): Show a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0002g0065 a0001c0001t0002g0108 a0001c0001t0002g0149 a0001c0001t0002g0166 a0001c0001t0003g0147 a0001c0001t0005g0115 a0001c0001t0005g0165 a0001c0001t0011g0034 a0001c0001t0011g0094 a0001c0001t0013g0085 a0001c0001t0013g0131 a0001c0001t0016g0194 a0001c0001t0028g0118 a0001c0001t0030g0001 a0001c0001t0037g0064 a0001c0001t0040g0074 a0001c0001t0042g0105 a0001c0001t0049g0092 a0001c0001t0052g0066 a0001c0001t0055g0155 a0001c0001t0069g0161 a0001c0007t0072g0033 a0002c0002t0021g0035 a0002c0002t0043g0111 a0002c0002t0056g0179 a0003c0003t0010g0043 a0003c0003t0059g0045 a0004c0008t0013g0192 a0005c0009t0009g0146	36	200	0.1800	49	c.-12 others(68): Show c.-126-2477_-126-2476insGGAAGGAAGGAAGGAAGGAAAGGAAG GAAGGAAGGAAGAAAGGAAGGAA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46174266	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp2 HG03130.hp2 others(3): Show HG02280.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0125 a0001c0001t0002g0039 a0001c0001t0002g0191 others(3): Show a0001c0001t0001g0125 a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0004g0060 a0001c0001t0017g0061 a0001c0001t0017g0062	6	200	0.0300	49	c.-12 others(68): Show c.-126-2477_-126-2476insGGAAGGAAGGAAGGAAGGAAGGAAAG GAAGGAAGGAAGAAAGGAAGGAA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARGC1A_chr4_23787021_23895047	23844738	A A	ATATATTA others(42): Show ATATATTATAATAATATATGATATATATTATAATAATATATGATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03654.hp2 NA20300.hp1 HG02622.hp2 HG03654.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0004 a0001c0001 a0001c0016 a0003c0004	a0001c0001t0063 a0001c0016t0030 a0003c0004t0003 a0001c0001t0063 a0001c0016t0030 a0003c0004t0003	a0001c0001t0063g0277 a0001c0016t0030g0281 a0003c0004t0003g0323 a0001c0001t0063g0277 a0001c0016t0030g0281 a0003c0004t0003g0323	3	342	0.0088	49	c.235 others(68): Show c.235-12988_235-12987insATATATATCATATATTATTATAATAT ATATCATATATTATTATAATATA	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844738	A A	ATATATTA others(42): Show ATATATTATTATAATATATGATATATATTATAATAATATATGATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18950.hp2 NA18955.hp1 others(5): Show HG02523.hp1 NA18950.hp2 NA18955.hp1 NA18968.hp2 NA18998.hp1 NA19009.hp2 NA19077.hp2 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0050 a0003c0004t0003 a0003c0004t0050	a0003c0004t0003g0018 a0003c0004t0003g0101 a0003c0004t0003g0106 others(5): Show a0003c0004t0003g0018 a0003c0004t0003g0101 a0003c0004t0003g0106 a0003c0004t0003g0112 a0003c0004t0003g0130 a0003c0004t0003g0149 a0003c0004t0003g0150 a0003c0004t0050g0003	8	342	0.0234	49	c.235 others(68): Show c.235-12988_235-12987insATATATATCATATATTATTATAATAT ATATCATATATTATAATAATATA	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAAAGAA others(42): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	270	0.0037	49	c.934 others(64): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	270	0.0037	49	c.934 others(64): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(42): Show ATTATAATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0007 a0001c0017t0007	a0001c0017t0007g0044 a0001c0017t0007g0044	1	282	0.0036	49	c.264 others(66): Show c.264+4623_264+4624insTATAATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(42): Show ATTATAATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0045 a0001c0005t0007g0045	1	282	0.0036	49	c.264 others(66): Show c.264+4623_264+4624insTATAATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1CB_chr2_28746830_28807940	28785065	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	366	0.0027	49	c.592 others(66): Show c.592+1115_592+1116insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	PPP1CB	ENSG00000213639.11	transcript	ENST00000395366.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R37_chr19_45088179_45152285	45112261	T T	TCCTTCTG others(42): Show TCCTTCTGATACATTTCACCTGGAGTGCTGGGATGACAGGCGTGGGATTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02886.hp1 others(6): Show HG02109.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0205 others(6): Show a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0018g0209	9	342	0.0263	49	c.202 others(68): Show c.202+18757_202+18805dupAGTGCTGGGATGACAGGCGTGGGATT ACCTTCTGATACATTTCACCTGG	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R37_chr19_45088179_45152285	45112298	A A	AGGCGTGG others(42): Show AGGCGTGGGATTACCTTCTGATACATTTCACCTGGAGTGCTGGGATGACG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01070.hp1 others(25): Show HG00639.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0006 a0001c0021 others(3): Show a0001c0002 a0001c0006 a0001c0021 a0002c0003 a0005c0008 a0007c0016	a0001c0002t0007 a0001c0006t0007 a0001c0021t0007 others(3): Show a0001c0002t0007 a0001c0006t0007 a0001c0021t0007 a0002c0003t0006 a0005c0008t0006 a0007c0016t0007	a0001c0002t0007g0298 a0001c0002t0007g0300 a0001c0002t0007g0301 others(25): Show a0001c0002t0007g0298 a0001c0002t0007g0300 a0001c0002t0007g0301 a0001c0002t0007g0302 a0001c0002t0007g0305 a0001c0002t0007g0306 a0001c0002t0007g0307 a0001c0002t0007g0308 a0001c0002t0007g0311 a0001c0006t0007g0303 a0001c0006t0007g0304 a0001c0006t0007g0309 a0001c0021t0007g0299 a0002c0003t0006g0018 a0002c0003t0006g0286 a0002c0003t0006g0287 a0002c0003t0006g0288 a0002c0003t0006g0289 a0002c0003t0006g0290 a0002c0003t0006g0291 a0002c0003t0006g0292 a0002c0003t0006g0293 a0002c0003t0006g0295 a0002c0003t0006g0296 a0002c0003t0006g0297 a0005c0008t0006g0018 a0005c0008t0006g0294 a0007c0016t0007g0310	28	342	0.0819	49	c.202 others(68): Show c.202+18805_202+18806insAGTGCTGGGATGACGGGCGTGGGATT ACCTTCTGATACATTTCACCTGG	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R3B_chr8_9131255_9155658	9154000	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(424): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0004t0021 a0001c0004t0031 a0002c0002t0004 a0002c0002t0034 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0003c0003t0007 a0003c0003t0035 a0003c0003t0052 a0004c0006t0002 a0005c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(195): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0003g0006 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0003g0087 a0001c0001t0005g0005 a0001c0001t0005g0109 a0001c0001t0005g0112 a0001c0001t0005g0115 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0058 a0001c0001t0006g0076 a0001c0001t0006g0170 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0006g0188 a0001c0001t0006g0197 a0001c0001t0008g0007 a0001c0001t0008g0191 a0001c0001t0008g0198 a0001c0001t0009g0011 a0001c0001t0010g0016 a0001c0001t0011g0039 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0012g0069 a0001c0001t0012g0071 a0001c0001t0013g0046 a0001c0001t0013g0106 a0001c0001t0014g0113 a0001c0001t0014g0114 a0001c0001t0014g0116 a0001c0001t0015g0070 a0001c0001t0015g0075 a0001c0001t0016g0034 a0001c0001t0017g0033 a0001c0001t0018g0059 a0001c0001t0020g0038 a0001c0001t0022g0144 a0001c0001t0022g0167 a0001c0001t0023g0037 a0001c0001t0024g0054 a0001c0001t0025g0065 a0001c0001t0026g0067 a0001c0001t0027g0072 a0001c0001t0028g0073 a0001c0001t0029g0062 a0001c0001t0030g0063 a0001c0001t0032g0066 a0001c0001t0033g0061 a0001c0001t0036g0083 a0001c0001t0037g0134 a0001c0001t0038g0172 a0001c0001t0039g0173 a0001c0001t0040g0182 a0001c0001t0041g0125 a0001c0001t0043g0150 a0001c0001t0044g0153 a0001c0001t0045g0157 a0001c0001t0046g0102 a0001c0001t0047g0107 a0001c0001t0048g0175 a0001c0001t0049g0108 a0001c0001t0050g0117 a0001c0001t0051g0176 a0001c0001t0053g0104 a0001c0001t0054g0177 a0001c0001t0055g0164 a0001c0001t0056g0159 a0001c0001t0057g0124 a0001c0001t0058g0080 a0001c0001t0059g0178 a0001c0001t0060g0200 a0001c0001t0061g0081 a0001c0001t0062g0123 a0001c0001t0063g0162 a0001c0001t0064g0179 a0001c0001t0065g0092 a0001c0001t0069g0135 a0001c0004t0021g0041 a0001c0004t0031g0068 a0002c0002t0004g0010 a0002c0002t0004g0024 a0002c0002t0004g0031 a0002c0002t0004g0085 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0034g0074 a0002c0002t0066g0098 a0002c0002t0067g0094 a0002c0002t0068g0093 a0003c0003t0007g0050 a0003c0003t0007g0110 a0003c0003t0007g0111 a0003c0003t0007g0140 a0003c0003t0007g0155 a0003c0003t0007g0166 a0003c0003t0007g0185 a0003c0003t0007g0186 a0003c0003t0007g0199 a0003c0003t0007g0201 a0003c0003t0035g0136 a0003c0003t0052g0139 a0004c0006t0002g0154 a0005c0005t0004g0097	427	444	0.9617	49	c.-34 others(60): Show c.-3456_-3455insGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGG	PPP1R3B	ENSG00000173281.5	transcript	ENST00000310455.4	protein_coding		3343		chr8	TogoVar
PPP3CA_chr4_101018418_101352526	101106456	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	192	0.0052	49	c.384 others(66): Show c.384+2497_384+2498insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91507370	T T	TATAGTAT others(42): Show TATAGTATATATACTATATAGTATATATACTATATAGTATATATACTATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0336 a0001c0001t0003g0336	1	370	0.0027	49	c.142 others(66): Show c.142+2135_142+2136insTATAGTATATATACTATATAGTATATAT ACTATATAGTATATATACTAT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507371	A A	ATAGTATA others(42): Show ATAGTATATATACTATATAGTATATATACTATATAGTATATATACTATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0055 a0001c0001t0002g0056	2	370	0.0054	49	c.142 others(66): Show c.142+2134_142+2135insATATAGTATATATACTATATAGTATATA TACTATATAGTATATATACTA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507640	A A	AGTATATA others(42): Show AGTATATATACACGGAATATATATATATATATACACGGAATATATATAGT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	370	0.0027	49	c.142 others(66): Show c.142+1865_142+1866insACTATATATATTCCGTGTATATATATAT ATATATTCCGTGTATATATAC	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar

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