Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
PIBF1_chr13_72777133_73021461	72844752	C C	CACACACA others(28): Show CACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0072 a0002c0002t0003g0072	1	346	0.0029	35	c.122 others(54): Show c.1224-9289_1224-9288insGGATGAAGTCTTACTGTTTACACACA CACACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG03579.hp1 others(4): Show HG00738.hp1 HG01496.hp2 HG03579.hp1 HG03942.hp2 NA18943.hp1 NA18951.hp1 NA19068.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0005c0008t0001 a0001c0001t0001 a0001c0001t0002 a0005c0008t0001	a0001c0001t0001g0087 a0001c0001t0001g0277 a0001c0001t0001g0296 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0277 a0001c0001t0001g0296 a0001c0001t0001g0319 a0001c0001t0002g0151 a0001c0001t0002g0164 a0005c0008t0001g0274	7	346	0.0202	35	c.148 others(54): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PIGG_chr4_494210_545200	541978	A A	AATATATA others(28): Show AATATATATTTATACAAATAATATTTATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0128 a0005c0009t0002g0128	1	362	0.0028	35	c.26 others(46): Show c.2609_*2610insATATATATTTATACAAATAATATTTATATAAATA T		PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding					1779		chr4	TogoVar
PIGL_chr17_16212210_16331411	16219580	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	246	0.0041	35	c.235 others(52): Show c.235+2124_235+2125insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGL_chr17_16212210_16331411	16311467	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	246	0.0041	35	c.427 others(52): Show c.427-2066_427-2065insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGL_chr17_16212210_16331411	16320225	G G	GAAAGAGA others(28): Show GAAAGAGACAGAGAGAAGGAGAGAGTGAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	246	0.0041	35	c.660 others(52): Show c.660+2317_660+2318insAAAGAGACAGAGAGAAGGAGAGAGTGAG AGAAAGA		PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	6/6						chr17	TogoVar
PIGW_chr17_36529987_36544303	36537753	G G	GCCATTAT others(28): Show GCCATTATAAAATCAATAGGCTATCAGGAACATTTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0022 a0003c0006t0022	a0003c0006t0022g0002 a0003c0006t0022g0002	1	403	0.0025	35	c.653 others(42): Show c.653_687dupCCATTATAAAATCAATAGGCTATCAGGAACATTTA	p.Thr others(5): Show p.Thr230fs	PIGW	ENSG00000277161.2	transcript	ENST00000614443.2	protein_coding	2/2	1302/2816	688/1515	230/504		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGZ_chr3_196941356_196973833	196949035	C C	CCTCCCCT others(28): Show CCTCCCCTCCCTTCCTTCCCTTCCCCTCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03098.hp2 others(2): Show HG02280.hp1 HG02572.hp2 HG03098.hp2 HG03453.hp1 HG03579.hp2	a0002 a0008 a0002 a0008	a0002c0005 a0008c0034 a0002c0005 a0008c0034	a0002c0005t0001 a0008c0034t0001 a0002c0005t0001 a0008c0034t0001	a0002c0005t0001g0099 a0002c0005t0001g0319 a0002c0005t0001g0320 others(1): Show a0002c0005t0001g0099 a0002c0005t0001g0319 a0002c0005t0001g0320 a0008c0034t0001g0013	5	424	0.0118	35	c.212 others(50): Show c.212-351_212-350insAGGGAGGGGAGGGGAAGGGAAGGAAGGGAG GGGAG		PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2						chr3	TogoVar
PIGZ_chr3_196941356_196973833	196949041	T T	TCCCTTCC others(28): Show TCCCTTCCCCTCCCCTCCCTTCCTTCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18981.hp2 NA19011.hp2 HG02080.hp1 NA18981.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0004g0168 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0004g0168	3	424	0.0071	35	c.212 others(50): Show c.212-357_212-356insGAGGGGAAGGGAAGGAAGGGAGGGGAGGGG AAGGG		PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2						chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA18981.hp1 NA18998.hp2 others(1): Show HG02148.hp1 NA18981.hp1 NA18998.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0002g0036	4	384	0.0104	35	c.18 others(44): Show c.185_*186insATATATATATATATATATATATTTTTTTTTTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18974.hp1 HG00544.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0124 a0001c0001t0001g0092 a0001c0001t0001g0124	2	384	0.0052	35	c.18 others(44): Show c.185_*186insATATATATATATATATATATATATTTTTTTTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18962.hp1 NA18973.hp1 HG02922.hp1 NA18962.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011	3	384	0.0078	35	c.18 others(44): Show c.185_*186insATATATATATATATATATATATATATTTTTTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	384	0.0026	35	c.18 others(44): Show c.185_*186insATATATATATATATATATATATATATATATTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	384	0.0026	35	c.18 others(44): Show c.185_*186insATATATATATATATATATATATATATATATATATT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIK3CD_chr1_9646731_9734114	9707916	C C	CCCAAGTA others(28): Show CCCAAGTAGCTGGGACTATGGGTGCCCGCCACCACG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0125 a0001c0002t0003g0125	1	318	0.0031	35	c.-32 others(52): Show c.-32-2505_-32-2471dupAAGTAGCTGGGACTATGGGTGCCCGCCA CCACGCC		PIK3CD	ENSG00000171608.18	transcript	ENST00000377346.9	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PIK3R4_chr3_130673934_130751829	130723062	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	304	0.0033	35	c.198 others(52): Show c.1981+317_1981+351dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PIK3R4	ENSG00000196455.8	transcript	ENST00000356763.8	protein_coding	7/19						chr3	TogoVar
PIMREG_chr17_6439455_6456469	6452991	T T	TAGTCTTC others(28): Show TAGTCTTCCTCTCTCTCTCTCTCTCTCTCTGCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	312	0.0032	35	c.26 others(46): Show c.2644_*2645insAGTCTTCCTCTCTCTCTCTCTCTCTCTCTGCCTT C		PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding					1523		chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67577612	T T	TAAAATAA others(28): Show TAAAATAAATTTAAAATTTTTTTTTATTTTACTTTA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	218	0.0046	35	c.295 others(50): Show c.295-559_295-558insTTTTTTTTTATTTTACTTTAAAAATAAATT TAAAA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67621180	C C	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	218	0.0046	35	c.367 others(54): Show c.367-10951_367-10917dupTTTTATTTTATTTTATTTTATTTTAT TTTATTTTA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02486.hp1 HG04115.hp1 HG01516.hp1 HG02486.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0028 a0001c0001t0001 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0153 a0001c0001t0027g0020 a0001c0001t0028g0070 a0001c0001t0001g0153 a0001c0001t0027g0020 a0001c0001t0028g0070	3	218	0.0138	35	c.683 others(52): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 NA18952.hp2 HG00741.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0001 a0001c0030t0001 a0001c0002t0001 a0001c0030t0001	a0001c0002t0001g0278 a0001c0030t0001g0038 a0001c0002t0001g0278 a0001c0030t0001g0038	2	446	0.0045	35	c.-18 others(46): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding					1802		chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	386	0.0026	35	c.103 others(50): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20						chr22	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	346	0.0029	35	c.128 others(54): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9						chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(28): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01109.hp1 others(26): Show HG00099.hp2 HG00738.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp2 HG01358.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03834.hp1 HG04204.hp1 NA18522.hp1 NA19086.hp1 NA20129.hp1	a0001 a0003 a0004 others(12): Show a0001 a0003 a0004 a0005 a0008 a0010 a0011 a0017 a0020 a0030 a0031 a0041 a0061 a0075 a0079	a0001c0068 a0003c0128 a0003c0129 others(13): Show a0001c0068 a0003c0128 a0003c0129 a0004c0011 a0005c0077 a0008c0043 a0010c0005 a0011c0016 a0017c0026 a0020c0015 a0030c0042 a0031c0143 a0041c0095 a0061c0096 a0075c0168 a0079c0167	a0001c0068t0001 a0003c0128t0001 a0003c0129t0001 others(15): Show a0001c0068t0001 a0003c0128t0001 a0003c0129t0001 a0004c0011t0001 a0004c0011t0002 a0005c0077t0002 a0008c0043t0002 a0010c0005t0001 a0010c0005t0002 a0011c0016t0001 a0017c0026t0001 a0020c0015t0001 a0030c0042t0001 a0031c0143t0001 a0041c0095t0001 a0061c0096t0002 a0075c0168t0001 a0079c0167t0004	a0001c0068t0001g0032 a0003c0128t0001g0067 a0003c0129t0001g0070 others(26): Show a0001c0068t0001g0032 a0003c0128t0001g0067 a0003c0129t0001g0070 a0004c0011t0001g0075 a0004c0011t0002g0064 a0005c0077t0002g0047 a0008c0043t0002g0055 a0010c0005t0001g0259 a0010c0005t0001g0260 a0010c0005t0001g0274 a0010c0005t0001g0286 a0010c0005t0001g0294 a0010c0005t0002g0009 a0010c0005t0002g0258 a0011c0016t0001g0179 a0017c0026t0001g0197 a0017c0026t0001g0199 a0017c0026t0001g0215 a0020c0015t0001g0227 a0020c0015t0001g0228 a0020c0015t0001g0229 a0020c0015t0001g0238 a0030c0042t0001g0151 a0030c0042t0001g0152 a0031c0143t0001g0026 a0041c0095t0001g0236 a0061c0096t0002g0234 a0075c0168t0001g0254 a0079c0167t0004g0272	29	306	0.0948	35	c.409 others(52): Show c.4093-297_4093-296insAATAAAATAAAATAAAATAAAATAAAAT AAAATAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47902033	G G	GGAAAAGA others(28): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0028 a0028	a0028c0078 a0028c0078	a0028c0078t0001 a0028c0078t0001	a0028c0078t0001g0014 a0028c0078t0001g0014	1	306	0.0033	35	c.206 others(52): Show c.2064+345_2064+346insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTC		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56						chr7	TogoVar
PKD1_chr16_2083708_2140898	2091203	A A	AGGGACGC others(28): Show AGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0171	1	216	0.0046	35	c.117 others(52): Show c.11713-30_11713-29insGCCCCCCTCGCAGGGCCCCGCCCCGGCA GCGTCCC		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45						chr16	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(28): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	282	0.0036	35	c.208 others(52): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTGTTT TTTTTTT		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(28): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01099.hp2 others(26): Show HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp2 HG02004.hp1 HG02273.hp1 HG02698.hp1 HG02895.hp2 HG03491.hp1 HG03492.hp1 NA18612.hp2 NA18950.hp2 NA18951.hp1 NA18986.hp1 NA19056.hp1 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0018 a0019 others(2): Show a0001 a0018 a0019 a0029 a0033	a0001c0001 a0001c0020 a0001c0059 others(4): Show a0001c0001 a0001c0020 a0001c0059 a0018c0021 a0019c0019 a0029c0052 a0033c0058	a0001c0001t0002 a0001c0001t0010 a0001c0001t0034 others(6): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0034 a0001c0020t0002 a0001c0059t0002 a0018c0021t0001 a0019c0019t0004 a0029c0052t0002 a0033c0058t0002	a0001c0001t0002g0002 a0001c0001t0002g0184 a0001c0001t0002g0185 others(25): Show a0001c0001t0002g0002 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0010g0190 a0001c0001t0010g0191 a0001c0001t0010g0194 a0001c0001t0034g0230 a0001c0020t0002g0231 a0001c0059t0002g0271 a0018c0021t0001g0223 a0019c0019t0004g0180 a0029c0052t0002g0224 a0033c0058t0002g0186	29	282	0.1028	35	c.208 others(52): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTTGTT TTTTTTT		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKN1_chr19_14428306_14476859	14465399	C C	CTCTTTTT others(28): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18973.hp1 HG00735.hp2 NA18973.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0178 a0003c0005t0001g0191 a0003c0005t0001g0178 a0003c0005t0001g0191	2	376	0.0053	35	c.173 others(54): Show c.1731+1247_1731+1248insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP2_chr12_32785755_32901777	32858091	A A	ATATATAT others(28): Show ATATATATATATATATATTTATATATATTTTATATT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	342	0.0029	35	c.117 others(54): Show c.1171-7119_1171-7118insAATATAAAATATATATAAATATATAT ATATATATA		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12						chr12	TogoVar
PLA2G2D_chr1_20106939_20124536	20111920	C C	CTTATTTT others(28): Show CTTATTTTATTTTATTTTATTTTATTTTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	464	0.0022	35	c.21 others(46): Show c.2193_*2194insAATAAAATAAAATAAAATAAAATAAAATAAAATA A		PLA2G2D	ENSG00000117215.15	transcript	ENST00000375105.8	protein_coding					18		chr1	TogoVar
PLA2R1_chr2_159927006_160067615	159935945	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0076 a0001c0003t0076	a0001c0003t0076g0127 a0001c0003t0076g0127	1	326	0.0031	35	c.58 others(46): Show c.5832_*5833insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30				5832		chr2	TogoVar
PLB1_chr2_28491060_28649142	28554489	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0076 a0003c0003t0001g0076	1	266	0.0038	35	c.114 others(54): Show c.1147+1527_1147+1528insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	17/57					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCB1_chr20_8127266_8889900	8130116	G G	GAGGAAAG others(28): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG03540.hp2 HG01934.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0012 a0001c0003 a0004c0012	a0001c0003t0008 a0004c0012t0002 a0001c0003t0008 a0004c0012t0002	a0001c0003t0008g0004 a0004c0012t0002g0001 a0001c0003t0008g0004 a0004c0012t0002g0001	2	106	0.0189	35	c.-25 others(46): Show c.-2536_-2535insAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA A		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding					2149		chr20	TogoVar
PLCB1_chr20_8127266_8889900	8836462	A A	ACTGATAC others(28): Show ACTGATACAGATTTTTGTCCCAAGAGTGGTTCAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01074.hp1 others(18): Show HG00438.hp1 HG00438.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01346.hp2 HG01934.hp2 HG02258.hp2 HG02622.hp2 HG02922.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0019 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0002 a0001c0004t0019 a0001c0019t0001 a0005c0015t0008	a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0102 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0102 a0001c0001t0002g0078 a0001c0001t0004g0025 a0001c0001t0006g0028 a0001c0001t0018g0060 a0001c0002t0001g0031 a0001c0002t0004g0055 a0001c0003t0001g0034 a0001c0003t0001g0047 a0001c0003t0001g0083 a0001c0003t0002g0069 a0001c0003t0004g0091 a0001c0003t0009g0053 a0001c0004t0001g0040 a0001c0004t0002g0065 a0001c0004t0002g0073 a0001c0004t0019g0052 a0001c0019t0001g0061 a0005c0015t0008g0002	21	106	0.1981	35	c.342 others(56): Show c.3424-45129_3424-45128insAAGGCTGATACAGATTTTTGTCCC AAGAGTGGTTC		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	244	0.0041	35	c.104 others(54): Show c.104-20865_104-20864insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2						chr5	TogoVar
PLD3_chr19_40343695_40383485	40377299	C C	CACAGGCA others(28): Show CACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp1 others(76): Show HG00099.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19011.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19085.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005	a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0027 others(62): Show a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0201 a0001c0001t0002g0208 a0001c0001t0002g0245 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0229 a0001c0001t0003g0264 a0001c0001t0008g0058 a0001c0001t0008g0066 a0001c0001t0008g0080 a0001c0001t0013g0098 a0001c0002t0007g0018 a0001c0002t0007g0106 a0001c0002t0007g0107 a0001c0003t0002g0250 a0001c0003t0003g0068 a0001c0003t0005g0050	79	364	0.2170	35	c.118 others(52): Show c.1186-458_1186-424dupAGGAGGTACAGGCAGAGGGGTCAGGGCT GGGATGG		PLD3	ENSG00000105223.21	transcript	ENST00000409735.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PLD4_chr14_104919879_104938236	104933706	G G	GGGGAGGG others(28): Show GGGGAGGGTGGGAGGGGGAGCGGGGCTGAGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	35	c.74 others(44): Show c.742_*743insGGGAGGGTGGGAGGGGGAGCGGGGCTGAGGGGACC		PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding					471		chr14	TogoVar
PLD4_chr14_104919879_104938236	104934001	C C	CGGCTGAG others(28): Show CGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	426	0.0024	35	c.10 others(46): Show c.1037_*1038insGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCG G		PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding					766		chr14	TogoVar
PLD4_chr14_104919879_104938236	104934001	C C	CGGCTGAG others(28): Show CGGCTGAGGGGATGGGGAGGGCGGGAGGCGACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0024	35	c.10 others(46): Show c.1037_*1038insGGCTGAGGGGATGGGGAGGGCGGGAGGCGACCCG G		PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding					766		chr14	TogoVar
PLD4_chr14_104919879_104938236	104934036	C C	CGGCTGAG others(28): Show CGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01168.hp2 others(2): Show HG00280.hp2 HG01099.hp1 HG01168.hp2 HG02735.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0003c0003t0001g0010 a0001c0001t0001g0003 a0003c0003t0001g0010	5	426	0.0117	35	c.10 others(46): Show c.1072_*1073insGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCG G		PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding					801		chr14	TogoVar
PLD5_chr1_242077986_242529697	242217527	G G	GATTACAT others(28): Show GATTACATTTCCAAGATTGGAAAAATAAAATGCTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0005 a0001c0001t0028	a0001c0001t0005g0026 a0001c0001t0028g0028 a0001c0001t0005g0026 a0001c0001t0028g0028	2	188	0.0106	35	c.735 others(52): Show c.735+2460_735+2461insAAAGCATTTTATTTTTCCAATCTTGGAA ATGTAAT		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9						chr1	TogoVar
PLD5_chr1_242077986_242529697	242394931	T T	TGATTATA others(28): Show TGATTATATGAATATATATGAATATATATATGAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01109.hp2 others(6): Show HG00423.hp1 HG00438.hp1 HG01109.hp2 NA18944.hp2 NA18945.hp1 NA18970.hp1 NA18978.hp1 NA18989.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 a0001c0002t0002 a0001c0002t0009 a0001c0002t0023 a0001c0002t0073 a0001c0002t0075	a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0002g0017 others(6): Show a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0002g0017 a0001c0001t0034g0044 a0001c0002t0002g0107 a0001c0002t0009g0164 a0001c0002t0023g0131 a0001c0002t0073g0168 a0001c0002t0075g0166	9	188	0.0479	35	c.190 others(54): Show c.190-46690_190-46689insTATTCATATATATATTCATATATATT CATATAATC		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	316	0.0032	35	c.228 others(50): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHD1_chr14_69479728_69536551	69498588	T T	TTTCTCTT others(28): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCCCTTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04184.hp2 HG00741.hp1 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0033 a0001c0003t0001g0219 a0001c0003t0001g0033 a0001c0003t0001g0219	2	318	0.0063	35	c.150 others(52): Show c.150-1499_150-1498insCCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTC		PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498588	T T	TTTCTCTT others(28): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18993.hp1 HG01934.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0101 a0001c0002t0002g0290 a0001c0001t0001g0101 a0001c0002t0002g0290	2	318	0.0063	35	c.150 others(52): Show c.150-1487_150-1453dupCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCT		PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0195 a0001c0035t0001g0195	1	272	0.0037	35	c.781 others(50): Show c.781-434_781-433insATATATATATATATATATATATATATTTTT TTTTT		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG7_chr12_92697989_92777455	92737771	G G	GGAAGGAA others(28): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	252	0.0040	35	c.939 others(50): Show c.939+251_939+252insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAG		PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92749973	T T	TATATTTT others(28): Show TATATTTTATTTTATTTTATATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01257.hp2 HG01975.hp1 others(7): Show HG01168.hp1 HG01257.hp2 HG01975.hp1 HG02145.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp2 HG03486.hp2 HG03834.hp2 NA20905.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0005 a0007c0014 a0009c0028 a0001c0005 a0007c0014 a0009c0028	a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 others(3): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0001c0005t0020 a0007c0014t0006 a0009c0028t0006	a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0002g0051 others(7): Show a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0002g0051 a0001c0005t0006g0044 a0001c0005t0006g0047 a0001c0005t0006g0131 a0001c0005t0020g0038 a0007c0014t0006g0049 a0007c0014t0006g0050 a0009c0028t0006g0048	10	252	0.0397	35	c.125 others(54): Show c.1252-4117_1252-4116insATATTTTATTTTATTTTATATTTTAT TTTATTTTA		PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	10/16						chr12	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0236 a0001c0002t0009g0236	1	256	0.0039	35	c.-81 others(44): Show c.-815_-814insTATATATATATATATATATATATATATATTTTTTT		PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding					691		chr2	TogoVar

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