Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCTGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG04115.hp2 HG02735.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	246	0.0081	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCTGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1612		chr1	TogoVar
PPARGC1B_chr5_149725310_149860022	149777800	C C	CACACACA others(209): Show CACACACACACACACACACACACACACACACACACACAGAGTACCCGGCT GCTCATATCCATGTAGCAGCATCACACACACACACACACACACACACACA CACAGTATCCGGCTGCTTGTATCCATGTAGCAGTGCCCCCCTCCCCCCCC CACCACAGACACACACACAGAGTACCCGGCTGCTCATATCCATGTAGCAT CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0028 a0001c0030t0028	a0001c0030t0028g0319 a0001c0030t0028g0319	1	317	0.0032	216	c.79- others(233): Show c.79-42606_79-42605insCACACACACAGAGTACCCGGCTGCTCAT ATCCATGTAGCAGCATCACACACACACACACACACACACACACACACAGT ATCCGGCTGCTTGTATCCATGTAGCAGTGCCCCCCTCCCCCCCCCACCAC AGACACACACACAGAGTACCCGGCTGCTCATATCCATGTAGCATCACACA CACACACACATACACACACACACACACACACACACACA		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPM1L_chr3_160751231_161083902	160945128	T T	TAACATGT others(209): Show TAACATGTTATATATAACTATATATAACATGTTATATATAACTATATATA ACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAAC ATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACAT GTTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT TATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02572.hp1 HG03942.hp2 others(1): Show HG01943.hp2 HG02572.hp1 HG03942.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0041 a0001c0001t0003 a0001c0001t0029 a0001c0001t0041	a0001c0001t0003g0043 a0001c0001t0003g0131 a0001c0001t0029g0075 others(1): Show a0001c0001t0003g0043 a0001c0001t0003g0131 a0001c0001t0029g0075 a0001c0001t0041g0167	4	191	0.0209	216	c.400 others(235): Show c.400-16608_400-16607insAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACATATATG		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3						chr3	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(209): Show ACTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCT CCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTT CCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	186	0.0054	216	c.467 others(229): Show c.467+96_467+97insTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCT TCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R7_chr2_241145467_241188652	241187727	C C	CAGGAGGA others(209): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGA GGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGG GGAGGGGGAGAAACGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03540.hp1 others(1): Show HG02258.hp1 HG02622.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0102 a0001c0001t0006g0104 others(1): Show a0001c0001t0006g0100 a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0006g0141	4	383	0.0104	216	c.49 others(227): Show c.4904_*4905insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAG AGGGAGAAGTGGGGGGGAGGGGGAGAAACGAT		PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding					4076		chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(209): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGC CTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0273 a0001c0021t0001g0273	1	181	0.0055	216	c.227 others(233): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCCCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(209): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGA GGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCA GGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTT CTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAG TGACCTCAGGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00099.hp2	a0028 a0028	a0028c0089 a0028c0089	a0028c0089t0002 a0028c0089t0002	a0028c0089t0002g0206 a0028c0089t0002g0206	1	393	0.0025	216	c.356 others(223): Show c.356_357insCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCC CGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTC ACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAA GAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGC CTGAGGTCACTGACCTCCCCAAGAAGCC	p.Pro others(229): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sProProProProGluValThrAspLeuProLysLysProProProProG luValThrAspLeuProLysLysProProProProGluValThrAspLeu ProLysLysProProProProGluValThrAspLeuProLysLysProPr oProProGluValThrAspLeuProLysLysPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(209): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp1 HG02572.hp1 HG02572.hp2 others(5): Show HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 NA19030.hp1	a0014 a0023 a0040 a0014 a0023 a0040	a0014c0010 a0023c0039 a0023c0040 others(1): Show a0014c0010 a0023c0039 a0023c0040 a0040c0073	a0014c0010t0002 a0023c0039t0001 a0023c0040t0001 others(1): Show a0014c0010t0002 a0023c0039t0001 a0023c0040t0001 a0040c0073t0002	a0014c0010t0002g0052 a0014c0010t0002g0215 a0014c0010t0002g0216 others(4): Show a0014c0010t0002g0052 a0014c0010t0002g0215 a0014c0010t0002g0216 a0014c0010t0002g0217 a0023c0039t0001g0145 a0023c0040t0001g0065 a0040c0073t0002g0165	8	290	0.0276	216	c.217 others(223): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(227): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670			chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2121922	A A	AGTTAGGG others(209): Show AGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAG CGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGTGGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	166	0.0060	216	c.335 others(235): Show c.335-13335_335-13334insGGTCACGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTGGTTAG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122948	C C	CGGTGGTA others(209): Show CGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACA GCGATAGTTAGCGTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	184	0.0054	216	c.335 others(235): Show c.335-12301_335-12300insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122952	G G	GGTAGTTA others(209): Show GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	225	0.0044	216	c.335 others(235): Show c.335-12297_335-12296insCGGCTGTAGTTAGGGTCACGGCGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(209): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	143	0.0070	216	c.335 others(235): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(209): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGATTGAATGAAGGGG TGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGA GGGGTGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	212	0.0047	216	c.719 others(233): Show c.719+2551_719+2552insACCCCTTCATCCATCCACCCCCACCCCT TCATCCATCCATGCACCCACCCCCCCACCCCCCCACCCCTCTACCCCTTC ATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATTC AATCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATT CAATCATCCATCCACCCACCCTTCATCCATCCACCCCC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PTK6_chr20_63523001_63542376	63535956	C C	CTCCTCTC others(209): Show CTCCTCTCCTGGCCTCCCGCCCCCCCCCCCTCACCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCC TCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCAC CTGGCCTCCCACCCCGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0184 a0001c0002t0003g0184	1	291	0.0034	216	c.231 others(231): Show c.231-898_231-897insACGGGGTGGGAGGCCAGGTGAGGGGGGGGC GGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGG GAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGA GGCCAGGTGAGGAGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGC CAGGTGAGGGGGGGGGGGCGGGAGGCCAGGAGAGGA		PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7						chr20	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(209): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCT CCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCC CCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	16	0.0625	216	c.191 others(237): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCC CTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(209): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCT CCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCC CCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	16	0.0625	216	c.191 others(237): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCC CTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61987705	T T	TAAAATTC others(209): Show TAAAATTCCTATTTTGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0076 a0003c0004t0007g0076	1	88	0.0114	216	c.191 others(233): Show c.191-1905_191-1904insTACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATTTTG		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTTG1IP_chr21_44844598_44878690	44863137	A A	ACCACAGC others(209): Show ACCACAGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA CACACAGCCCGCCACGGCCTCGGCAACACAGAGACACAGCCCACCACGGC CTCAGCAGCAGAGACACAGCCCACCACGGCCTCGGCAACACAGAGACACA GCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCGGCAA CACAGAGACACAGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp1 others(67): Show HG00099.hp1 HG00438.hp1 HG00544.hp1 HG00733.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18939.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp2 NA18971.hp1 NA18983.hp1 NA18989.hp1 NA19000.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0003c0004t0002	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0032 others(49): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0004g0013 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0008g0124 a0001c0001t0009g0100 a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0001t0012g0035 a0001c0001t0012g0084 a0001c0001t0013g0034 a0001c0001t0015g0125 a0001c0001t0015g0126 a0001c0001t0017g0031 a0001c0001t0019g0295 a0001c0001t0019g0296 a0001c0001t0023g0103 a0001c0001t0024g0095 a0001c0001t0033g0294 a0003c0004t0002g0099	70	440	0.1591	216	c.169 others(233): Show c.169-1867_169-1866insCGGGCTGTGTCTCTGTGTTGCCGAGGCC GTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGT GTTGCCGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGG CTGTGTCTCTGTGTTGCCGAGGCCGTGGCGGGCTGTGTGTCTGCTGCTGA GGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCTGTGG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PWWP2B_chr10_132392200_132422859	132392492	A A	AATGGTGA others(209): Show AATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGG TAATGGTGATGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	371	0.0027	216	c.-47 others(227): Show c.-4735_-4734insATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGGTAATGGTGATGGTGATG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4707		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(209): Show GGGAGACCCGAGGCCGCCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCC AGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGAC CCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCC CTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGC CGTCCAGGGCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0085 a0001c0001t0037g0085	1	167	0.0060	216	c.126 others(235): Show c.1265+3462_1265+3463insAGACCCGAGGCCGCCCAGGGCCCCTC CCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGT CCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAG ACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGC CCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	510037	C C	CCCGTGCC others(209): Show CCCGTGCCTCTGGGCTCTGAGCGCACGCGTTGTGTGTAGTGGCCCTGGCA CCTCCACGCCCCGTCCCGAGTCCCCGTGCCTCTGGGCTCTGAGCGCACTC GTTGTGTGTAGTGGCCCTGGCACCTCCACGCCCCGTCCCGAGTCCCCGTG CCTCTGGGCTCTGAGCGCACGCGTTGTGTGTAGTGGCCCTGGCACCTCCA CGCCCCGTCCCGAGGCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 NA18939.hp2 others(1): Show HG00438.hp2 HG00597.hp2 NA18939.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0237	4	294	0.0136	216	c.150 others(233): Show c.1500-580_1500-365dupCCTGGCACCTCCACGCCCCGTCCCGAGT CCCCGTGCCTCTGGGCTCTGAGCGCACTCGTTGTGTGTAGTGGCCCTGGC ACCTCCACGCCCCGTCCCGAGTCCCCGTGCCTCTGGGCTCTGAGCGCACG CGTTGTGTGTAGTGGCCCTGGCACCTCCACGCCCCGTCCCGAGGCTCCGT GCCTCTGGGCTCTGAGCGCACGCGTTGTGTGTAGTGGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	631760	T T	TCCTCTCC others(209): Show TCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCAC CCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCAC TTCTTCCATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCT CCTATCCACTCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTC ACTGCCTCTCCTCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	348	0.0029	216	c.41 others(227): Show c.4138_*4139insCCTCTCCTATCCACTCCTCCCATCCACTTCTTCC ATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCC ACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCATCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTTTTCCATCCTC TTCTCTCACCCCGTCACTGCCTCTCCTCCCAC		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding					2493		chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCC CCACCAGGCCTACCAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03710.hp1 HG03239.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0069 a0001c0004t0002g0178 a0001c0001t0002g0069 a0001c0004t0002g0178	2	120	0.0167	216	c.397 others(229): Show c.397-73_397-72insCCTGGTAGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGAGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCC CCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19010.hp2 NA19068.hp2 NA18947.hp1 NA19010.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0147 a0001c0001t0001g0190 a0001c0001t0001g0191	3	121	0.0248	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19058.hp2 NA18977.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	120	0.0167	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAT CAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCATCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	119	0.0084	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGCCTGATGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	119	0.0084	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985755	G G	GCCCACCA others(209): Show GCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCA CCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACCAGGCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCAC CATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCACCATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	310	0.0032	216	c.397 others(229): Show c.397-91_397-90insGATGGTGGGGATGGTGGGCCTGGTGGGCCTGG TGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGG ATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGT GAGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAD51C_chr17_58687602_58740611	58726417	T T	TATATGTA others(209): Show TATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATG TATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATA CGTATAGATGTATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00558.hp2 others(86): Show HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(76): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0289 a0001c0001t0003g0002 a0001c0001t0003g0082 a0001c0001t0003g0097 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0008g0069 a0001c0001t0010g0030 a0001c0004t0001g0011 a0001c0004t0001g0131	89	162	0.5494	216	c.965 others(233): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATA TGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTA TACGTATAGATGTATATACATATGTATATATGTGTATA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA2_chr20_20384530_20717644	20458790	C C	CTATATAT others(209): Show CTATATATATATAGACCTATATATATATAGACCTATATATATAGACCTAT ATATATAGACCTATATATATATAGACCTATATATATAGACCTATATATAT ATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAGAC CTATATATATAGACCTATATATATATAGACCTATATATATATATAGACCT ATATATATATAGACCTA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	107	0.0093	216	c.549 others(237): Show c.5495+14038_5495+14039insTAGGTCTATATATATATAGGTCTA TATATATATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATA TATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATATATATA TAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGGTC TATATATATAGGTCTATATATATATAGGTCTATATATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458824	A A	ATATATAT others(209): Show ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATAGACCTATATATATATAGACCTATATATATAGACCTATATATATAT AGACCTATATATATATAGACCTATATATATATAGACCTATATATATATAG ACCTATATATATAGACCTATATATATATATAGACCTATATATATATAGAC CTATATATATATAGACC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0047 a0006c0008t0047	a0006c0008t0047g0121 a0006c0008t0047g0121	1	104	0.0096	216	c.549 others(237): Show c.5495+14004_5495+14005insGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATATATAGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATATATA TATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGG TCTATATATATATAGGTCTATATATATATAGGTCTATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(209): Show TCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGAC GTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGGCCCC CCCCTCCCTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCCTCCCTCTCT CCAGCCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTCG ATCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0017 a0001c0005t0001g0017	1	46	0.0217	216	c.55+ others(233): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGG GGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGGGGGGGGCCCTGAT CGACGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGA GAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(209): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGGGCCCG GGGTGGGGATGGGGACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp1 NA19030.hp2 HG01255.hp1 HG02647.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0013 a0001c0011t0026 a0002c0002t0005 a0001c0001t0013 a0001c0011t0026 a0002c0002t0005	a0001c0001t0013g0066 a0001c0011t0026g0199 a0002c0002t0005g0104 a0001c0001t0013g0066 a0001c0011t0026g0199 a0002c0002t0005g0104	3	224	0.0134	216	c.-83 others(233): Show c.-83-2873_-83-2872insGGTCCCCATCCCCACCCCGGGCCCCATC CCCACCCCGGGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGC CATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCGG GCCCCGTCCCCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACC CCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACCCC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(209): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	50	0.0200	216	c.908 others(233): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(209): Show GTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTATGT GTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGT ATACATACGTATGTATGTGTATACATACATACGTATGTGTATACATACAT ACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTAT GTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	216	c.-23 others(227): Show c.-2339_-2338insTGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATGTATACACATACATACGTATGTATGTATACACATA CGTATGTATGTATACACATACATACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACGTATGTATACACATA		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(209): Show CATACGTATGTGTATACATACATACGTATGTGTATACATACATACGTATG TATGTGTATACATACATACGTATGTATGTGTATACATACATATGTATGTG TATACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	216	c.-24 others(227): Show c.-2402_-2401insACACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATGTATACACATACATATGTATGT ATACACATACATACGTATGTATGTATACACATACATACGTATGTATGTAT ACACATACGTATGTATGTATACACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2177		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(209): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18988.hp1 NA19012.hp2 NA18947.hp1 NA18988.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	415	0.0072	216	c.-24 others(227): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATATGTATGTATACACATACATACATAT GTATGTATACACATACATACGTATGTATACACATACATACGTATGTATAC ACATACATACGTATGTATGTATACACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2225		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACGTA others(209): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	216	c.-24 others(227): Show c.-2474_-2473insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATATGTATGTATACACATACATACGTAT GTATACACATACATACGTATGTATACACATACATACGTATGTATGTATAC ACATACATACGTATGTATGTATACACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2249		chr3	TogoVar
RGS12_chr4_3288021_3444913	3341528	A A	ATGGTGTG others(209): Show ATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGA GGGTGGAGAGTTGGGGGTGTGGGGGGGGGGAGGGTGGAGAGATGGGGGTG TGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGT GGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	213	0.0047	216	c.188 others(235): Show c.1882-1406_1882-1405insTGTGGGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGGGGG AGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGG		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(209): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	228	0.0044	216	c.47 others(227): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding					3316		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(209): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02895.hp2 HG03654.hp2 others(1): Show HG01361.hp1 HG02895.hp2 HG03654.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 others(1): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0066	a0001c0001t0012g0073 a0001c0001t0014g0033 a0001c0001t0027g0037 others(1): Show a0001c0001t0012g0073 a0001c0001t0014g0033 a0001c0001t0027g0037 a0001c0001t0066g0033	4	350	0.0114	216	c.-76 others(225): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(209): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02004.hp1 HG03017.hp1 others(7): Show HG00735.hp2 HG02004.hp1 HG03017.hp1 HG03492.hp2 NA18978.hp1 NA19005.hp2 NA19012.hp2 NA19062.hp1 NA19079.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0002c0002t0032	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0147 a0001c0001t0006g0157 a0001c0001t0018g0003 a0001c0001t0020g0142 a0002c0002t0032g0134	10	38	0.2632	216	c.-76 others(225): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(209): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	355	0.0028	216	c.22 others(227): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2085		chr13	TogoVar
RNF213_chr17_80255852_80403794	80274584	C C	CTGTGGGG others(209): Show CTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGG AGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGT GTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGG GGGGTGAGTGGGGTGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0102 a0102	a0102c0127 a0102c0127	a0102c0127t0006 a0102c0127t0006	a0102c0127t0006g0062 a0102c0127t0006g0062	1	272	0.0037	216	c.261 others(233): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315318	G G	GAGGTAAT others(209): Show GAGGTAATGGAGGTGATGGTGGTCGTGGAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGG TCGTGGAGGTGATGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTACTG GAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGAAGTGATGGT GGAGGTACTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0062 a0062	a0062c0109 a0062c0109	a0062c0109t0036 a0062c0109t0036	a0062c0109t0036g0084 a0062c0109t0036g0084	1	268	0.0037	216	c.281 others(235): Show c.2812-1870_2812-1869insAGGTAATGGAGGTGATGGTGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTACTGGAGGTGATGGTGGTCGTGGAGGTGATGGTGGTGGTGGTAA TGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATG GTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RPA3_chr7_7631518_7723607	7678637	G G	GATAAATA others(209): Show GATAAATATATATTTATATACTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATTTATATATTTAGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01081.hp2 others(15): Show HG00140.hp1 HG00438.hp1 HG01081.hp2 HG01934.hp2 HG02074.hp1 HG02132.hp1 HG02922.hp2 HG03225.hp1 HG03831.hp2 HG04199.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp2 NA18973.hp2 NA18986.hp2 NA18988.hp2 NA18998.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0001t0001 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0081 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0010g0156 a0001c0001t0020g0242	18	302	0.0596	216	c.-75 others(235): Show c.-758+7192_-758+7193insAAACTAAATATATAAATATTTATAAA CTAAATACATAAATATATATTTATAAACTAAATACATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATA TATATTTATCTATAAATTAAGTATATAAATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	287715	T T	TCTCTCTC others(209): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCA CCGTCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	132	0.0076	216	c.352 others(233): Show c.352-5862_352-5861insGGTGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGA CGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340478	C C	CCGGGCTC others(209): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCT CCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACAC TCACTGCCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCAC CCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	64	0.0156	216	c.-21 others(235): Show c.-212-6545_-212-6544insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGCAGTGAGTGTGGACG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAG CCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743917	T T	TTACTAGC others(209): Show TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGTACAGCCCTGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0078 a0001c0009t0078	a0001c0009t0078g0019 a0001c0009t0078g0019	1	159	0.0063	216	c.655 others(235): Show c.655-10085_655-10084insCTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCA GAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743917	T T	TTACTAGC others(209): Show TTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0017 a0001c0057t0077g0017	1	159	0.0063	216	c.655 others(235): Show c.655-10085_655-10084insCTGTCCTGGTTACTAGCACTGTCCTG GTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGC CCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCA CAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACT AGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results