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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIM1_chr6_37165152_37180428	37179406	T T	TATATATA others(96): Show TATATATAATATATATTATATATAATATATATTATATATATTATATATTA TATATAATATATATTATATATAATATATATTTTATATAATATATATTATA TAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(24): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 NA18944.hp1 NA18957.hp1 NA18965.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA19002.hp2 NA19065.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 a0001c0006t0004	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0010g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0010g0004 a0001c0001t0022g0004 a0001c0006t0004g0004	27	414	0.0652	103	c.53 others(114): Show c.5315_*5316insATATATAATATATATTATATATAATATATATTAT ATATATTATATATTATATATAATATATATTATATATAATATATATTTTAT ATAATATATATTATATAAA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIR_chrX_15379799_15498333	15393716	A A	ATCTGTCA others(96): Show ATCTGTCACTGTCTCCCATCAACCCCGGATGGGACCATCTAGTTGCAGGA AAACAAATTCAGGGCTCCTACTGATTCTACATTATGGTGAGTTATAGAAT TATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	272	0.0037	103	c.694 others(120): Show c.694-3568_694-3466dupAATAATTCTATAACTCACCATAATGTAG AATCAGTAGGAGCCCTGAATTTGTTTTCCTGCAACTAGATGGTCCCATCC GGGGTTGATGGGAGACAGTGACAGA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	8/9			chrX	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(96): Show GGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0224 a0004c0005t0001g0224	1	306	0.0033	103	c.349 others(122): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(96): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	306	0.0033	103	c.349 others(122): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(96): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0299 a0007c0008t0001g0047 a0001c0001t0001g0299 a0007c0008t0001g0047	2	306	0.0065	103	c.349 others(122): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50274854	C C	CCCCAGTA others(96): Show CCCCAGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGCAT CCCTCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCAC CTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03209.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0052 a0001c0080 a0002c0032 others(1): Show a0001c0052 a0001c0080 a0002c0032 a0002c0073	a0001c0052t0001 a0001c0080t0001 a0002c0032t0001 others(2): Show a0001c0052t0001 a0001c0080t0001 a0002c0032t0001 a0002c0032t0013 a0002c0073t0001	a0001c0052t0001g0076 a0001c0080t0001g0078 a0002c0032t0001g0286 others(2): Show a0001c0052t0001g0076 a0001c0080t0001g0078 a0002c0032t0001g0286 a0002c0032t0013g0287 a0002c0073t0001g0263	5	302	0.0166	103	c.84 others(112): Show c.849_*850insAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGG TGGAGGGGGCTGGGAGGGATGCTGGGGGTGGTGCTGGGAGGTGGAGGGGG CTGGGAGGGATACTGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		124		chr22	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(96): Show GCCACACCCCCTCCCCACCCACCCGCCACACCCCCTCCCCTCCCCCCCAC CTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCG CCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	400	0.0025	103	c.106 others(120): Show c.1060+116_1060+117insCTCCCCACCCACCCGCCACACCCCCTCC CCTCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCA CACCCCTCCCCGCCCCCCACACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(96): Show GCCACACCCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCCAC CTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCG CCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	400	0.0025	103	c.106 others(120): Show c.1060+116_1060+117insCTCCCCACCCACCCGCCACACCCCTCCC CTCCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCA CACCCCTCCCCGCCCCCCACACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(96): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCCACC TCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGC CCCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	400	0.0025	103	c.106 others(120): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCC ACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCC CGCCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(96): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCCACC TCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCCACACCCCTCCCCG CCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18968.hp1 HG00408.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0113 a0001c0001t0001g0076 a0001c0001t0001g0113	2	400	0.0050	103	c.106 others(120): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCC ACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCCACACCCCTCC CCGCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816147	C C	CCCTCCCC others(96): Show CCCTCCCCACCCACCCGCCACACCCCTCCCCCTCCCCCCCCACCTCCCCC TGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCCCCACC CACA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	400	0.0025	103	c.106 others(120): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCCTCCCCCCC CACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCC CCGCCCCACCCACACCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(96): Show ACCCACCCCGCCACAACCCTCCTCCCTCCCCCCCACCTCCCCCTGCCCCA CCCACACCCCTCCCTGCCCCCCCACACCCCCTCCCCGCCCCCCACACCCC TCCC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	400	0.0025	103	c.106 others(120): Show c.1060+125_1060+126insACCCCGCCACAACCCTCCTCCCTCCCCC CCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCCT CCCCGCCCCCCACACCCCTCCCCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(96): Show ACCCACCCGCCACACCCCTCCCCTCCCCCCCACCTCCCCCTGCCCCACCC ACACCCCTCCCTGCCCCCCCACACCCCTCCCCCGCCCCCCACACCCCTCC CCAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0261 a0001c0002t0006g0261	1	400	0.0025	103	c.106 others(120): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCC CGCCCCCCACACCCCTCCCCACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(96): Show ACCCACCCGCCACACCCCTCCCCTCCCCCCCACCTCCCCCTGCCCCACCC ACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCCCCCCCACACCCCTCC CCAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	400	0.0025	103	c.106 others(120): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCC GCCCCCCCACACCCCTCCCCACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(96): Show ACCCACCCGCCACACCCCTCCCCTCCCCCCCCACCTCCCCCTGCCCCACC CACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCCCCCCACACCCCTCC CCAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG01934.hp2 others(6): Show HG00741.hp2 HG01433.hp2 HG01934.hp2 HG02071.hp1 HG02135.hp2 HG02738.hp2 HG03831.hp1 HG04199.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0106 others(6): Show a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0002t0001g0149 a0001c0002t0001g0215 a0001c0003t0001g0177 a0001c0005t0001g0054	9	400	0.0225	103	c.106 others(120): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCC ACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCC CGCCCCCCACACCCCTCCCCACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPFIA2_chr12_81252975_81764350	81602317	T T	TTTTTAAA others(96): Show TTTTTAAACTAGCTTATGTTTCAATTCAAACATCCTATTAGAATTAGACA GAGTCCTAATTTTCAGTTTTGTAGATTTATTGTTGAGAAACTCTGTTCCC AGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG03139.hp1 HG02451.hp1 HG02818.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0112 a0001c0001t0002g0043 a0001c0001t0001g0077 a0001c0001t0001g0112 a0001c0001t0002g0043	3	168	0.0179	103	c.303 others(122): Show c.303+74473_303+74474insCTCTGGGAACAGAGTTTCTCAACAAT AAATCTACAAAACTGAAAATTAGGACTCTGTCTAATTCTAATAGGATGTT TGAATTGAAACATAAGCTAGTTTAAAA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160944843	A A	ATATAACA others(96): Show ATATAACATATATTATATATGTTATATAACATATATATGTTATATAACAT ATATTATATGTTATATAACATATATATATGTTATATAACATATATTATAT ATGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0031 a0001c0001t0035g0031	1	206	0.0049	103	c.400 others(122): Show c.400-16889_400-16888insACATATATTATATATGTTATATAACA TATATATGTTATATAACATATATTATATGTTATATAACATATATATATGT TATATAACATATATTATATATGTTATA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R2C_chr4_6315581_6477614	6336817	C C	CTCCCTCC others(96): Show CTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCCTCCC TCCTACCCTCCCCTCCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTCCC TCCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0114 a0001c0002t0003g0114	1	298	0.0034	103	c.791 others(120): Show c.791-3087_791-3086insAGGAGGGAGGGAGGGAGGGAGGGATGGA AGCAGGGAGGGGAGGGGAGGGTAGGAGGGAGGGGAGGGAGGGAAGGAGGG AGGGAGGGAGGGAAGGAGGGAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131952689	T T	TGGGGGTT others(96): Show TGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGTTCACTGTCTT AGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTG TGCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	394	0.0025	103	c.108 others(122): Show c.1083-2983_1083-2881dupGTCTTAGTGACTTGCGGGTGTGCGGG GTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGT GACTTGCGGGTGTGCAGGGGGTTCACT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKAG2_chr7_151551127_151882115	151855158	T T	TGCTCCAC others(96): Show TGCTCCACACACCACCCTCCACACACCACCCTCCACACACACCATCCACA CACCACCCTCCACACACACCATCCTCCACACACACCACCCTCCACACACA CCAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	252	0.0040	103	c.114 others(122): Show c.114+21348_114+21349insGTGGTGTGTGTGGAGGGTGGTGTGTG TGGAGGATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGG TGGTGTGTGGAGGGTGGTGTGTGGAGC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855203	C C	CCGCCCTC others(96): Show CCGCCCTCCACACACCACCCTCCACACACACCACTTTACACACACGCCAC CCTCCACACACCACCCTACACACACACTTTACACACACACCGCCCTCCAC ACAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0210 a0001c0001t0028g0210	1	252	0.0040	103	c.114 others(122): Show c.114+21303_114+21304insATGTGTGGAGGGCGGTGTGTGTGTAA AGTGTGTGTGTAGGGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTG TGTGTGGAGGGTGGTGTGTGGAGGGCG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKN_chr6_161342417_162732766	161350871	T T	TTTTTATA others(96): Show TTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTT AAAATATATATAAATATATTTTATATATTTATATTTAAAATATATATAAA TATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	32	0.0313	103	c.128 others(120): Show c.1286-661_1286-660insTATATTTATATATATTTTAAATATAAAT ATATAAAATATATTTATATATATTTTAAATATAAATATATAAAAATATAT ATATTTTAAATATAAATATATAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRMT2_chr21_46630674_46670124	46645268	A A	AAAAAAAA others(96): Show AAAAAAAAAAATAGAAAAAATTCTATAAATCTATGAATGATACTACGTGA GCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAGCCTG TCTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18949.hp2 NA19006.hp1 HG01168.hp1 NA18949.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0165 a0001c0001t0003g0185 a0001c0001t0015g0123 a0001c0001t0003g0165 a0001c0001t0003g0185 a0001c0001t0015g0123	3	426	0.0070	103	c.327 others(118): Show c.327+790_327+791insTAGAAAAAATTCTATAAATCTATGAATGAT ACTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGC GAGAGCCTGTCTCAAAAAAAAAA	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(96): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18939.hp2 NA18999.hp2 others(2): Show HG01928.hp1 NA18939.hp2 NA18999.hp2 NA19062.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0025 a0001c0001t0002 a0001c0001t0015 a0001c0001t0025	a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0333 others(2): Show a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0333 a0001c0001t0015g0233 a0001c0001t0025g0207	5	356	0.0140	103	c.241 others(122): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(96): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02572.hp2 HG01192.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0017 a0001c0001t0007g0014 a0001c0001t0005g0017 a0001c0001t0007g0014	2	356	0.0056	103	c.241 others(122): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(96): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01884.hp2 others(2): Show HG00140.hp1 HG01123.hp2 HG01884.hp2 HG03688.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0049 a0001c0001t0002g0194 a0001c0001t0002g0197 others(2): Show a0001c0001t0002g0049 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0003g0223 a0001c0001t0004g0124	5	356	0.0140	103	c.241 others(122): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGES3L_chr17_42963103_42985080	42967537	A A	AATATATA others(96): Show AATATATATTTTATATATAAAATTAATATATATAATATATATTTTATATA TAAAATTAATATATAATATATATATATTTTATATATAAAATTAATATATA ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	2	336	0.0060	103	c.16 others(114): Show c.1610_*1611insATATTATATATTAATTTTATATATAAAATATATA TATATTATATATTAATTTTATATATAAAATATATATTATATATATTAATT TTATATATAAAATATATAT	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		565		chr17	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	AAAAATAT others(96): Show AAAAATATATATATATATATATGTATATATATATATGTGTAGATATATAT ACATATGTATATATATATGTATATATATATGTATATATATATATATATAT GTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0084 a0001c0003t0006g0084	1	290	0.0035	103	c.-12 others(122): Show c.-121-2227_-121-2226insACACATATATATATATATATATACAT ATATATATACATATATATATACATATGTATATATATCTACACATATATAT ATATACATATATATATATATATATTTT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(96): Show GTATATTATATATTTTATATATAATATATTTTGTATATTATATATTTTAT ATATAATATATTTTGTATATTATATATTTTATATATAATATATTTTGTAT ATTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(19): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01081.hp2 HG01099.hp1 HG01943.hp1 HG02080.hp1 HG02165.hp2 NA18747.hp2 NA18943.hp1 NA18948.hp1 NA18970.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19079.hp2 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 others(19): Show a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0268	22	356	0.0618	103	c.-12 others(124): Show c.-128-12788_-128-12787insTTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
QPCT_chr2_37339630_37378322	37347183	T T	TATATATA others(96): Show TATATATATATATAACATATATATAACATATATATAACATATATATAACA TATATATAACATATATATAACATCTATATAACATCTATATAACATCTATA TAAC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0297 a0002c0002t0002g0297	1	442	0.0023	103	c.120 others(120): Show c.120+2341_120+2342insTATAACATATATATAACATATATATAAC ATATATATAACATATATATAACATATATATAACATCTATATAACATCTAT ATAACATCTATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP3_chr16_420649_528011	460876	C C	CTGTGGCT others(96): Show CTGTGGCTGTGACTGTCTGCAGTGGCCCATGGAGGCCGTGCTGCCTCCTG CACGTGAGGAGTCAGAGGCTGTCACTGTCAGCACCGCCCCTGTTGGCGGC TTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0057 a0001c0008t0057	a0001c0008t0057g0113 a0001c0008t0057g0113	1	295	0.0034	103	c.715 others(118): Show c.715-516_715-515insTGTCTGCAGTGGCCCATGGAGGCCGTGCTG CCTCCTGCACGTGAGGAGTCAGAGGCTGTCACTGTCAGCACCGCCCCTGT TGGCGGCTTCTTGTGGCTGTGAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	460961	G G	GCCCCTGT others(96): Show GCCCCTGTTGGCGGCTTCTTGTGGCTGTGACCGTCTGCAGTGGCCCATGG AGGCCGTGCTGCCTCCTGCACGTGAGGAGTCAGAGGCTGTCACTGTCAGC ACCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0111 a0001c0006t0058g0111	1	295	0.0034	103	c.715 others(118): Show c.715-424_715-423insGTGGCTGTGACCGTCTGCAGTGGCCCATGG AGGCCGTGCTGCCTCCTGCACGTGAGGAGTCAGAGGCTGTCACTGTCAGC ACCACCCCTGTTGGCGGCTTCTT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504509	A A	ACCCCCTC others(96): Show ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCA CCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCT GTAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02738.hp2 HG03669.hp1 others(5): Show HG02559.hp1 HG02738.hp2 HG03669.hp1 NA18984.hp2 NA19004.hp2 NA19012.hp2 NA19054.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029 a0001c0001t0051	a0001c0001t0003g0076 a0001c0001t0008g0063 a0001c0001t0008g0065 others(5): Show a0001c0001t0003g0076 a0001c0001t0008g0063 a0001c0001t0008g0065 a0001c0001t0008g0071 a0001c0001t0008g0077 a0001c0001t0011g0179 a0001c0001t0029g0020 a0001c0001t0051g0064	8	295	0.0271	103	c.139 others(120): Show c.1396-997_1396-996insTACCCCCCTCACCTCCTCCTGTACCCCC TCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCT CCTGTACCCCCCTCACCTCCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(96): Show AGGGGGAAGGGAGGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGG AGGGGGAGGGGGTGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGGGTGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	400	0.0025	103	c.-34 others(114): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCCC CACCCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(96): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGGTGGGGGGAGGGGGGAGGGGGTGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	400	0.0025	103	c.-34 others(114): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC CTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCC CCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(96): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGTGGGGGGGAGGGGGGAGGGGGTGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0131 a0001c0001t0009g0131	1	400	0.0025	103	c.-34 others(114): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCCACCCCC CTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCC CCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(96): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGTGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	400	0.0025	103	c.-34 others(114): Show c.-3413_-3412insCTCCCCCACCCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCC CCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(96): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGTGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	400	0.0025	103	c.-34 others(114): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCACCCCCTCCCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCC CCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RALGPS1_chr9_126909782_127228166	127182435	T T	TTCCTTCT others(96): Show TTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCC TTCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0133 a0001c0004t0005g0133	1	276	0.0036	103	c.910 others(120): Show c.910+7654_910+7655insCCTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TTCCTTCCTCCCTTCCTTCCTTCCT	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RBBP6_chr16_24534566_24577863	24575770	A A	AGAGGGAG others(96): Show AGAGGGAGGAGAGGAGGAGGGGAGAGGGAGAGAGGGAGGAGAGGAGAGGA GAGGGAGAGGGAGAGGGAGGAGGGAGAGAGGGAGGAGAGGGAGAGGGAGG AGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	336	0.0030	103	c.33 others(114): Show c.3325_*3326insGAGGGAGGAGAGGAGGAGGGGAGAGGGAGAGAGG GAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGAGGGAGG AGAGGGAGAGGGAGGAGGG	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2908		chr16	TogoVar
RETREG1_chr5_16468053_16621997	16525280	G G	GGGGGACA others(96): Show GGGGGACACTGTGATGACCTGTGTCCTCCGGCTCCTGCAGGTGGATGTGC ATAGGGGACACTGTGCTGACATGTGTCCTCTGGCCCCTGCAGGTGGATTT GCGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG03130.hp2 HG02559.hp2 HG02572.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0143	3	294	0.0102	103	c.458 others(122): Show c.458+40482_458+40483insTCGCAAATCCACCTGCAGGGGCCAGA GGACACATGTCAGCACAGTGTCCCCTATGCACATCCACCTGCAGGAGCCG GAGGACACAGGTCATCACAGTGTCCCC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TCTTTCTT others(96): Show TCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0238 a0001c0002t0004g0238	1	388	0.0026	103	c.207 others(118): Show c.207+526_207+527insCTTTCTTTCTTTCTTTCTCTCTCTCTTTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RGS12_chr4_3288021_3444913	3341547	G G	GAGGGTGG others(96): Show GAGGGTGGAGAGATGGGGGTATGGCGGGGAGGGGACAAGGGTGGAGAGAT GGGGGTGCGGGGGGAGGGAGGGTGGAGAGATGGGGGTATGGCGGGGAGGG GACA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02683.hp2 HG04184.hp1 HG02004.hp2 HG02683.hp2 HG04184.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0092 a0006c0015t0002g0096 a0006c0015t0002g0097 a0006c0015t0002g0092 a0006c0015t0002g0096 a0006c0015t0002g0097	3	312	0.0096	103	c.188 others(122): Show c.1882-1371_1882-1370insATGGCGGGGAGGGGACAAGGGTGGAG AGATGGGGGTGCGGGGGGAGGGAGGGTGGAGAGATGGGGGTATGGCGGGG AGGGGACAAGGGTGGAGAGATGGGGGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHOT2_chr16_663132_679171	664570	C C	CTGCCTGG others(96): Show CTGCCTGGGCCTGGACTTTGCCGTTTCCTTGTAGGGCCCAGGGCCCTCCC GGGGAGATGGACTGAGCTGTCCTGGTCTGAGTCCCTGCAGTCCCTCATTG CTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0002 a0002c0002t0012g0002	1	380	0.0026	103	c.-36 others(114): Show c.-3630_-3629insTGCCTGGGCCTGGACTTTGCCGTTTCCTTGTAGG GCCCAGGGCCCTCCCGGGGAGATGGACTGAGCTGTCCTGGTCTGAGTCCC TGCAGTCCCTCATTGCTCA	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		3561		chr16	TogoVar
RIPK2_chr8_89752816_89796064	89753679	G G	GATATTTT others(96): Show GATATTTTATATATATTTATATTTTATATATATATTTTATATATATTTTA TATATATATATATTTTATATATATTTATATTTTATATATATTTATATTTT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00735.hp1 others(25): Show HG00323.hp1 HG00639.hp1 HG00735.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp1 HG03654.hp2 NA18906.hp2 NA18943.hp2 NA18952.hp2 NA18977.hp2 NA18985.hp1 NA19002.hp2 NA19075.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0001t0001 a0001c0001t0002 a0001c0005t0002	a0001c0001t0001g0009 a0001c0001t0001g0115 a0001c0001t0002g0010 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0115 a0001c0001t0002g0010 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0005t0002g0014 a0001c0005t0002g0042 a0001c0005t0002g0116	28	380	0.0737	103	c.-43 others(114): Show c.-4382_-4381insATATTTTATATATATTTATATTTTATATATATAT TTTATATATATTTTATATATATATATATTTTATATATATTTATATTTTAT ATATATTTATATTTTATAT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4136		chr8	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(96): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTATT ATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	448	0.0022	103	c.47 others(114): Show c.4781_*4782insTAATAATAATAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50666185	T T	TTCTTTTT others(96): Show TTCTTTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTCTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18970.hp2 HG01106.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0172 a0002c0002t0002g0168 a0002c0002t0001g0172 a0002c0002t0002g0168	2	280	0.0071	103	c.3+2 others(118): Show c.3+24940_3+24941insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAGAAAAAAGA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666185	T T	TTCTTTTT others(96): Show TTCTTTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTCTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	280	0.0036	103	c.3+2 others(118): Show c.3+24940_3+24941insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAGAAAAAAGA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(96): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTCCTCT CTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0152 a0002c0002t0002g0152	1	280	0.0036	103	c.3+2 others(118): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(96): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT CTTCTCCTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	280	0.0036	103	c.3+2 others(118): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAGGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar

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