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	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
PLPP2_chr19_276043_296403	282434	TGTGCACC others(89): Show TGTGCACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTT GCGCCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	354	0.0028	-96	c.541 others(111): Show c.541-220_541-125delCAGGCTAACACGTCTGTGCAGGGGGAGGGG GAGCGCCTGGCAGGCGCAAGGCTAACACGTCTGTGCAGGGGGAGGGGGAG CGCCTGGCAGGTGCAC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5						chr19	TogoVar
PLXDC2_chr10_19811432_20294856	20026838	TACTTTTA others(89): Show TACTTTTATAATATATTCTAATATATAGAATACACTTTTATAATATATTC TAATATATAGAATACACTTTTATAATATATTCTAATATATAGAATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01192.hp2 others(20): Show HG01069.hp2 HG01071.hp2 HG01192.hp2 HG01258.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0029 others(17): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0041 a0001c0001t0050 a0001c0001t0051 a0001c0001t0070 a0001c0001t0086 a0001c0001t0097 a0001c0001t0123 a0001c0001t0125 a0001c0001t0127 a0002c0002t0005 a0002c0002t0006 a0002c0002t0024 a0002c0002t0026 a0002c0002t0063 a0002c0002t0113	a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0010g0131 others(20): Show a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0010g0131 a0001c0001t0029g0003 a0001c0001t0030g0001 a0001c0001t0037g0011 a0001c0001t0041g0057 a0001c0001t0050g0125 a0001c0001t0051g0179 a0001c0001t0070g0005 a0001c0001t0086g0097 a0001c0001t0097g0104 a0001c0001t0123g0046 a0001c0001t0125g0055 a0001c0001t0127g0137 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0006g0014 a0002c0002t0024g0043 a0002c0002t0024g0071 a0002c0002t0026g0136 a0002c0002t0063g0165 a0002c0002t0113g0045	23	180	0.1278	-96	c.325 others(115): Show c.325-19846_325-19751delTAGAATACACTTTTATAATATATTCT AATATATAGAATACACTTTTATAATATATTCTAATATATAGAATACACTT TTATAATATATTCTAATATA		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20027023	TAGAATAC others(89): Show TAGAATACACTTTTATAATATATTCTAATATATAGAATACACTTTTATAA TATATTCTAATATATAGAATACACTTTTATAATATATTCTAATATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0032 a0001c0001t0067g0032	1	180	0.0056	-96	c.325 others(115): Show c.325-19844_325-19749delGAATACACTTTTATAATATATTCTAA TATATAGAATACACTTTTATAATATATTCTAATATATAGAATACACTTTT ATAATATATTCTAATATACA		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
POU6F1_chr12_51181936_51223062	51197043	TGTCTACC others(89): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCTGCTGGATGGTTTCCAGGGCTAGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00733.hp2 others(40): Show HG00423.hp2 HG00438.hp1 HG00733.hp2 HG00735.hp1 HG01261.hp1 HG01361.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02615.hp2 HG02922.hp2 HG03139.hp2 HG03669.hp1 NA18612.hp1 NA18940.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18968.hp2 NA18979.hp1 NA18987.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0001t0032 a0001c0001t0040 a0001c0001t0043 a0001c0001t0062 a0001c0012t0104 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0031 a0001c0001t0001g0305 a0001c0001t0001g0330 others(27): Show a0001c0001t0001g0031 a0001c0001t0001g0305 a0001c0001t0001g0330 a0001c0001t0002g0001 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0318 a0001c0001t0003g0062 a0001c0001t0005g0331 a0001c0001t0008g0306 a0001c0001t0008g0324 a0001c0001t0010g0035 a0001c0001t0010g0357 a0001c0001t0010g0359 a0001c0001t0010g0360 a0001c0001t0010g0361 a0001c0001t0027g0046 a0001c0001t0027g0292 a0001c0001t0032g0047 a0001c0001t0040g0269 a0001c0001t0043g0350 a0001c0001t0043g0352 a0001c0001t0062g0294 a0001c0012t0104g0362 a0002c0002t0001g0007 a0002c0002t0002g0254 a0002c0002t0006g0262	43	440	0.0977	-96	c.847 others(111): Show c.847-212_847-117delCCCTAGCCCTGGAAACCATCCAGCAGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGAC		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10						chr12	TogoVar
PPP1R10_chr6_30595413_30622243	30602093	TCCAGGGC others(89): Show TCCAGGGCCTTCATGGGGACGATGTCCACCACTTCCACCCATGCTTCCGC CAGGGCCTTCGTGGGGGCGATGTCCACCACCGGCACCCATTCCTCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0097 a0008c0013t0001g0097	1	459	0.0022	-96	c.246 others(105): Show c.2460_2555delCGGAGGAATGGGTGCCGGTGGTGGACATCGCCCCCA CGAAGGCCCTGGCGGAAGCATGGGTGGAAGTGGTGGACATCGTCCCCATG AAGGCCCTGG	p.Gly others(13): Show p.Gly821_Gly852del	PPP1R10	ENSG00000204569.10	transcript	ENST00000376511.7	protein_coding	19/20	3107/4511	2460/2823	820/940			chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150197943	GGCTTTGT others(89): Show GGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGG CTTTGTGTGCCCCTGCCCTTCATGGTGGAGGAGGGCCTGGATGCCCA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	312	0.0032	-96	c.307 others(115): Show c.307-16784_307-16689delCCCGTCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGCCCTTCATGGTGGAGGAGGGCCTGGATG CCCAGCTTTGTGTGCCCCTG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R3C_chr10_91623442_91638071	91636352	CACTTACG others(89): Show CACTTACGGAGTTTCAGTGAAAGAGTCAGGGAAGTTGCGAACTGGTTTTT TTTTTTTTTAATTATTATTAAAAGGAGCAGGTTTTGCATTTTGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00735.hp1 others(33): Show HG00140.hp1 HG00280.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0005g0007 a0001c0001t0006g0011 a0001c0001t0007g0014 a0001c0002t0001g0010	36	360	0.1000	-96	c.-34 others(107): Show c.-3479_-3384delTCTCCAAAATGCAAAACCTGCTCCTTTTAATAAT AATTAAAAAAAAAAAAAACCAGTTCGCAACTTCCCTGACTCTTTCACTGA AACTCCGTAAGT		PPP1R3C	ENSG00000119938.9	transcript	ENST00000238994.6	protein_coding					3282		chr10	TogoVar
PPP2R2C_chr4_6315581_6477614	6336709	CTCCCTCC others(89): Show CTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0046 a0001c0002t0021g0201 a0001c0002t0021g0046 a0001c0002t0021g0201	2	298	0.0067	-96	c.791 others(113): Show c.791-3074_791-2979delTGGAAGGAGGGAGGGAGGGAGGGAGGGA AGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAAG GAGGGAGGGAGGGAGGGA		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8						chr4	TogoVar
PPP2R3B_chrX_328933_391907	340051	GGGGGGGT others(89): Show GGGGGGGTGAGAGGGGAGGAGATGGGGGGGTGAGAGGGGAGGAGATGGGG GGGGTGAGAGGGGAGGAGATGGGGGGGGCGAGAGGGGGGGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0024 a0004c0012t0010g0024	1	25	0.0400	-96	c.135 others(113): Show c.1351+618_1351+713delGGCTCCTCCCCCCCTCTCGCCCCCCCCA TCTCCTCCCCTCTCACCCCCCCCATCTCCTCCCCTCTCACCCCCCCATCT CCTCCCCTCTCACCCCCC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	375463	TGCAAACT others(89): Show TGCAAACTCACAGGGCAGAGGTGCGGCCCAGTAACCCATGATGTGGGGCA CAAACTCACAGGGCAGAGGTGCCGTCCCGTCACCCACGATGCGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0012 a0003c0013 a0004c0012	a0003c0013t0006 a0004c0012t0010 a0003c0013t0006 a0004c0012t0010	a0003c0013t0006g0025 a0004c0012t0010g0024 a0003c0013t0006g0025 a0004c0012t0010g0024	2	25	0.0800	-96	c.324 others(115): Show c.324+10809_324+10904delGCCCCGCATCGTGGGTGACGGGACGG CACCTCTGCCCTGTGAGTTTGTGCCCCACATCATGGGTTACTGGGCCGCA CCTCTGCCCTGTGAGTTTGC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PRDM16_chr1_3064203_3443621	3162985	CCGCAGAA others(89): Show CCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0194 a0001c0001t0035g0194	1	210	0.0048	-96	c.38- others(113): Show c.38-22900_38-22805delGCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3163245	GTCTAGAG others(89): Show GTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01255.hp2 others(14): Show HG00735.hp2 HG01069.hp2 HG01255.hp2 HG01884.hp1 HG02074.hp2 HG02132.hp1 HG02258.hp1 HG02976.hp1 HG03195.hp2 HG03654.hp1 HG03669.hp2 HG04204.hp1 NA18939.hp1 NA18970.hp1 NA18970.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0004c0010 a0008c0027 a0010c0019	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0021 a0001c0001t0048 a0001c0001t0083 a0001c0001t0086 a0001c0001t0088 a0001c0002t0003 a0001c0002t0071 a0001c0004t0010 a0002c0007t0002 a0004c0010t0026 a0008c0027t0078 a0010c0019t0002	a0001c0001t0001g0150 a0001c0001t0008g0064 a0001c0001t0013g0002 others(14): Show a0001c0001t0001g0150 a0001c0001t0008g0064 a0001c0001t0013g0002 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0048g0151 a0001c0001t0083g0027 a0001c0001t0086g0033 a0001c0001t0088g0090 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0071g0099 a0001c0004t0010g0130 a0002c0007t0002g0045 a0004c0010t0026g0207 a0008c0027t0078g0082 a0010c0019t0002g0028	17	210	0.0810	-96	c.38- others(113): Show c.38-22879_38-22784delTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCG CAGAAGCCCCTGGCATGA		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16						chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165409	TGACTCAC others(89): Show TGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTG ACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG02145.hp1 others(24): Show HG01081.hp1 HG01106.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03710.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp2 NA18950.hp2 NA18966.hp1 NA19079.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0013 a0001c0026 a0001c0029 a0002c0003 a0002c0007 a0005c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0022 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0029 a0001c0004t0055 a0001c0006t0011 a0001c0006t0024 a0001c0008t0002 a0001c0008t0085 a0001c0009t0067 a0001c0013t0041 a0001c0026t0001 a0001c0029t0065 a0002c0003t0009 a0002c0007t0024 a0005c0018t0012	a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0003g0168 others(24): Show a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0003g0168 a0001c0001t0008g0097 a0001c0001t0022g0040 a0001c0001t0056g0204 a0001c0002t0001g0121 a0001c0002t0002g0180 a0001c0002t0003g0120 a0001c0002t0017g0202 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0034 a0001c0004t0010g0174 a0001c0004t0029g0044 a0001c0004t0055g0004 a0001c0006t0011g0039 a0001c0006t0024g0026 a0001c0008t0002g0059 a0001c0008t0085g0003 a0001c0009t0067g0145 a0001c0013t0041g0025 a0001c0026t0001g0160 a0001c0029t0065g0131 a0002c0003t0009g0078 a0002c0007t0024g0070 a0005c0018t0012g0030	27	210	0.1286	-96	c.38- others(113): Show c.38-20668_38-20573delTGACTCACCTGGGCTCAGGGACAGTGAC TCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGTGACTC ACCTGGGCTCAGGGACAG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165754	TGGGCCCA others(89): Show TGGGCCCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCAG GGCTCAGGCACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0124 a0001c0001t0042g0124	1	210	0.0048	-96	c.38- others(113): Show c.38-20366_38-20271delCCAGGGACAGGGACTCACCAGGGCTCAG GGACAGGGACTCACCAGGGCTCAGGCACAGGGACTCACCTGGGCTCAGGG ACAGGGACTCACCAGGGC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDX1_chr1_45506051_45526884	45517815	AGAAAGGA others(89): Show AGAAAGGAGAGTTGTTCCATCTGTAATATCAACTCTCCTCCGGGGTCAAA ACAGGCAAGGGAAAGTGCCTAGCCCTCAGCCTAATATTAACAGCTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(145): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0004g0187 a0002c0002t0001g0143	148	364	0.4066	-96	c.106 others(113): Show c.106+1027_106+1122delACAGCTGTTAATATTAGGCTGAGGGCTA GGCACTTTCCCTTGCCTGTTTTGACCCCGGAGGAGAGTTGATATTACAGA TGGAACAACTCTCCTTTC		PRDX1	ENSG00000117450.15	transcript	ENST00000319248.13	protein_coding	2/5						chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151874429	TATGATGT others(89): Show TATGATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGT ATATGTATATGATGTATATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	252	0.0040	-96	c.114 others(113): Show c.114+1982_114+2077delCATATACATATACATATACATCATATAC ATATACATCATATACATATACATCATATACATATACATATACATCATATA CATATACATATACATCAT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798489	CGGTGGTG others(89): Show CGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTG ACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0017 a0001c0004t0003g0017	1	178	0.0056	-96	c.185 others(115): Show c.1855-5364_1855-5269delACGGTGGTGACGGTGGTGGTGATGGT GGTGACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	24159490	TACCTCTA others(89): Show TACCTCTATTGGAAAGGTACTATTACTAACTTTAATTTACAGACAAGAAT GCTGACATTCAGAGAAGTTAAGTAACTGGTGCACTGTCACACAGCTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02615.hp2 others(5): Show HG01243.hp1 HG02145.hp2 HG02615.hp2 HG02922.hp1 HG02965.hp2 HG03453.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0023 a0001c0003t0008 a0001c0003t0074 others(5): Show a0001c0002t0023 a0001c0003t0008 a0001c0003t0074 a0001c0003t0075 a0001c0004t0013 a0001c0004t0053 a0001c0004t0077 a0001c0004t0087	a0001c0002t0023g0079 a0001c0003t0008g0140 a0001c0003t0074g0141 others(5): Show a0001c0002t0023g0079 a0001c0003t0008g0140 a0001c0003t0074g0141 a0001c0003t0075g0019 a0001c0004t0013g0044 a0001c0004t0053g0030 a0001c0004t0077g0091 a0001c0004t0087g0023	8	148	0.0541	-96	c.123 others(115): Show c.1239+4634_1239+4729delACCTCTATTGGAAAGGTACTATTACT AACTTTAATTTACAGACAAGAATGCTGACATTCAGAGAAGTTAAGTAACT GGTGCACTGTCACACAGCTG		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	10/16						chr16	TogoVar
PTDSS2_chr11_445279_496399	485741	TGCGCAGG others(89): Show TGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGCG CGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01106.hp1 others(4): Show HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01993.hp1 NA18941.hp2 NA19009.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0008 a0001c0002t0001 a0002c0003t0008	a0001c0002t0001g0013 a0001c0002t0001g0119 a0002c0003t0008g0172 others(3): Show a0001c0002t0001g0013 a0001c0002t0001g0119 a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 a0002c0003t0008g0175	7	346	0.0202	-96	c.436 others(112): Show c.436-1037_436-942delACAGTGCACGGGCGCGCGTGTGCTCACCG TGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTG CGCGCAGGCGAGCGTAA		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRT_chr20_42067756_43194906	42541484	CACTAGTA others(89): Show CACTAGTATCTAGTACTAGTGTACTAGTAAATAGTAAATAAGTATTTACT AGTAAATACTAATACTAGTAAATAAGTATTTACTAGTAAATACTAAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0015 a0001c0025t0015	a0001c0025t0015g0028 a0001c0025t0015g0028	1	62	0.0161	-96	c.115 others(117): Show c.1154-69018_1154-68923delATTAGTATTTACTAGTAAATACTT ATTTACTAGTATTAGTATTTACTAGTAAATACTTATTTACTATTTACTAG TACACTAGTACTAGATACTAGT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PXYLP1_chr3_141226825_141299924	141248664	TACACACA others(89): Show TACACACACGTGTATATATACACACGTATATACACACACGTGTATATATA CACACGTATATACACACACGTGTATATATACACACGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	384	0.0026	-96	c.-53 others(115): Show c.-53-11452_-53-11357delACGTGTATATATACACACGTATATAC ACACACGTGTATATATACACACGTATATACACACACGTGTATATATACAC ACGTATATATATACACACAC		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248688	CGTATATA others(89): Show CGTATATACACACACGTGTATATATACACACGTATATACACACACGTGTA TATATACACACGTATATATATACACACACGTGTATATATACACACGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp1 others(93): Show HG00099.hp1 HG00280.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG03098.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19074.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0002t0002 a0001c0003t0003	a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0100 others(91): Show a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0002g0114 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0335 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0142 a0001c0001t0003g0203 a0001c0001t0004g0109 a0001c0001t0004g0137 a0001c0001t0004g0148 a0001c0001t0004g0162 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0186 a0001c0001t0011g0028 a0001c0001t0011g0030 a0001c0001t0012g0106 a0001c0001t0017g0355 a0001c0002t0002g0027 a0001c0002t0002g0094 a0001c0002t0002g0107 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0151 a0001c0002t0002g0170 a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0003t0003g0212	96	384	0.2500	-96	c.-53 others(115): Show c.-53-11434_-53-11339delGTATATACACACACGTGTATATATAC ACACGTATATACACACACGTGTATATATACACACGTATATATATACACAC ACGTGTATATATACACACGT		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5						chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248696	CACACACG others(89): Show CACACACGTGTATATATACACACGTATATACACACACGTGTATATATACA CACGTATATATATACACACACGTGTATATATACACACGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03491.hp2 NA18970.hp2 HG02155.hp1 HG03491.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0187 a0001c0001t0002g0174 a0001c0001t0001g0110 a0001c0001t0001g0187 a0001c0001t0002g0174	3	384	0.0078	-96	c.-53 others(115): Show c.-53-11420_-53-11325delGTGTATATATACACACGTATATACAC ACACGTGTATATATACACACGTATATATATACACACACGTGTATATATAC ACACGTATATATATACACAC		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB20_chr13_110518066_110566722	110530651	CCCACCTC others(89): Show CCCACCTCTACACAGACACAGGACCCTGGGGAAGTAGGTCCCACCCGCCC CACCTCTACGCAGACACAGGGCCCTAGGGAAGTAGGTCCCACCCGCT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	426	0.0024	-96	c.173 others(113): Show c.173-6550_173-6455delAGCGGGTGGGACCTACTTCCCTAGGGCC CTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTACTTCCCCAGGGTCCT GTGTCTGTGTAGAGGTGG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RANBP1_chr22_20111104_20132355	20121816	GTATCCTC others(89): Show GTATCCTCTGCCTCCTGGGCTCAAGTGATTGTCGTGCCTCAGCCTCCTGA GTAGCTGGGATTACAGGCGTGCATCACCACACTCAGATGATTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG01952.hp1 others(30): Show HG00609.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02523.hp1 HG02559.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG03704.hp1 NA18944.hp2 NA18954.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18986.hp2 NA18989.hp2 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0027 others(8): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0085 a0001c0001t0002g0121 a0001c0001t0002g0122	33	432	0.0764	-96	c.384 others(111): Show c.384-447_384-352delTATCCTCTGCCTCCTGGGCTCAAGTGATTG TCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCATCACCACA CTCAGATGATTTTTGT		RANBP1	ENSG00000099901.18	transcript	ENST00000430524.6	protein_coding	2/5						chr22	TogoVar
RBFOX1_chr16_6014024_7718340	6780045	TTACATAT others(89): Show TTACATATTTATATATATTTATATATATTTACATATTTATATATATTTAT ATATTTTTATATATTTATATATATTTATATATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp1 HG03098.hp2 others(2): Show HG01192.hp1 HG03098.hp1 HG03098.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0043 a0001c0002t0038	a0001c0001t0003g0049 a0001c0001t0004g0040 a0001c0001t0009g0036 others(2): Show a0001c0001t0003g0049 a0001c0001t0004g0040 a0001c0001t0009g0036 a0001c0001t0043g0003 a0001c0002t0038g0023	5	68	0.0735	-96	c.-16 others(117): Show c.-16+125398_-16+125493delCATATTTATATATATTTATATATA TTTACATATTTATATATATTTATATATTTTTATATATTTATATATATTTA TATATATATTTATATATTTATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM25_chr14_73053534_73128899	73083269	TGCAAATG others(89): Show TGCAAATGAAGAATCAGTAAGAATTTATATTTTTCTTTAAATGATTTGTT GTTCATTTCTTTCATGTGATAAGTTTGTGGGAATTGCAAAAATTTTC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	388	0.0026	-96	c.325 others(111): Show c.325-217_325-122delAAGAATCAGTAAGAATTTATATTTTTCTTT AAATGATTTGTTGTTCATTTCTTTCATGTGATAAGTTTGTGGGAATTGCA AAAATTTTCGCAAATG		RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
RBMS1_chr2_160267151_160498807	160311591	ATTACTTT others(89): Show ATTACTTTCCTCTTTACTTGAAGAAGCCAGATAATATAAAAGTATTGCTC TTTTAAAAAGAATACTCAAAAGATCAAACTGCTGAGTTTCAGGCTTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00738.hp2 others(36): Show HG00140.hp1 HG00280.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02818.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp1 HG03540.hp2 HG03831.hp2 HG04115.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0003t0004	a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0004g0018 others(36): Show a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0004g0018 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0014g0075 a0001c0001t0017g0285 a0001c0001t0017g0286 a0001c0001t0020g0011 a0001c0001t0023g0086 a0001c0003t0004g0079	39	328	0.1189	-96	c.402 others(113): Show c.402+1469_402+1564delCAAGCCTGAAACTCAGCAGTTTGATCTT TTGAGTATTCTTTTTAAAAGAGCAATACTTTTATATTATCTGGCTTCTTC AAGTAAAGAGGAAAGTAA		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13						chr2	TogoVar
REV3L_chr6_111294033_111488218	111422584	ATATATAT others(89): Show ATATATATATACACATATATATATATATACACATATATATATATATACAC ATATATATATATATACATATATATATATACATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02717.hp2 others(5): Show HG01891.hp1 HG02109.hp2 HG02717.hp2 HG03139.hp1 HG03540.hp1 HG03579.hp2 HG04199.hp1 HG04228.hp2	a0004 a0011 a0014 a0004 a0011 a0014	a0004c0003 a0011c0014 a0014c0026 a0004c0003 a0011c0014 a0014c0026	a0004c0003t0003 a0011c0014t0001 a0014c0026t0005 a0004c0003t0003 a0011c0014t0001 a0014c0026t0005	a0004c0003t0003g0017 a0004c0003t0003g0018 a0004c0003t0003g0020 others(5): Show a0004c0003t0003g0017 a0004c0003t0003g0018 a0004c0003t0003g0020 a0004c0003t0003g0024 a0004c0003t0003g0025 a0011c0014t0001g0121 a0011c0014t0001g0126 a0014c0026t0005g0023	8	288	0.0278	-96	c.140 others(113): Show c.140-6208_140-6113delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATGTGTATATATATA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31						chr6	TogoVar
RFX7_chr15_56082280_56248879	56110318	GGGGGGGG others(89): Show GGGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0218 a0001c0004t0008g0218	1	360	0.0028	-96	c.402 others(113): Show c.402-6744_402-6649delTCCCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCCC		RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9						chr15	TogoVar
RIMBP2_chr12_130391133_130721299	130646099	CTCCCTCT others(89): Show CTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCT GCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0004 a0013 a0004 a0013	a0004c0040 a0013c0046 a0004c0040 a0013c0046	a0004c0040t0001 a0013c0046t0004 a0004c0040t0001 a0013c0046t0004	a0004c0040t0001g0171 a0013c0046t0004g0167 a0004c0040t0001g0171 a0013c0046t0004g0167	2	180	0.0111	-96	c.-35 others(117): Show c.-351-17739_-351-17644delAGTGGTGAGGGAGGTGGAGAGGCA GGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGCAGG TGGTGAGGGAGGTGGAGAGGGA		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	ACCACCTG others(89): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	180	0.0056	-96	c.-35 others(117): Show c.-351-17758_-351-17663delAGAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTG AGGGAGGTGGAGAGGCAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646166	ACCACCTG others(89): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0014 a0001c0021t0001g0014	1	180	0.0056	-96	c.-35 others(117): Show c.-351-17806_-351-17711delAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTG AGGGAGGTGGAGAGGCAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646346	ACCACCTC others(89): Show ACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19081.hp1 NA18986.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0065 a0001c0002t0001g0046 a0001c0002t0001g0065	2	180	0.0111	-96	c.-35 others(117): Show c.-351-17986_-351-17891delCAAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF138_chr18_32086874_32136561	32130972	TCAAAGTT others(89): Show TCAAAGTTTAATACATCCAATATGTCAAGTTAAACCATTCTGGGATTTGC AAAGTTTAATACATCCAATATGTCAAGTTAAACCATTCTGGGATTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0034 a0001c0001t0025g0034	1	362	0.0028	-96	c.18 others(107): Show c.1834_*1929delCAAAGTTTAATACATCCAATATGTCAAGTTAAAC CATTCTGGGATTTGCAAAGTTTAATACATCCAATATGTCAAGTTAAACCA TTCTGGGATTTG		RNF138	ENSG00000134758.14	transcript	ENST00000261593.8	protein_coding	8/8				1834	INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(89): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02723.hp2 others(9): Show HG02257.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG03139.hp2 NA18966.hp1 NA18967.hp2 NA18975.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp1 NA19087.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0038 a0043 a0058 a0092 a0103	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005 a0038c0146 a0043c0101 a0058c0130 a0092c0117 a0103c0120	a0001c0001t0001 a0001c0001t0029 a0001c0003t0002 others(9): Show a0001c0001t0001 a0001c0001t0029 a0001c0003t0002 a0001c0004t0004 a0002c0002t0003 a0002c0002t0010 a0003c0005t0023 a0038c0146t0048 a0043c0101t0003 a0058c0130t0031 a0092c0117t0026 a0103c0120t0050	a0001c0001t0001g0160 a0001c0001t0029g0079 a0001c0003t0002g0072 others(9): Show a0001c0001t0001g0160 a0001c0001t0029g0079 a0001c0003t0002g0072 a0001c0004t0004g0074 a0002c0002t0003g0111 a0002c0002t0010g0113 a0003c0005t0023g0134 a0038c0146t0048g0172 a0043c0101t0003g0061 a0058c0130t0031g0012 a0092c0117t0026g0166 a0103c0120t0050g0249	12	292	0.0411	-96	c.-43 others(105): Show c.-439_-344delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCG GGGCCGGCGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					280		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260631	CCGGCGGC others(89): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01891.hp2 HG03130.hp1 others(3): Show HG00140.hp2 HG01891.hp2 HG03130.hp1 NA18947.hp1 NA19005.hp1 NA19060.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0053 a0061	a0001c0001 a0002c0002 a0003c0074 others(3): Show a0001c0001 a0002c0002 a0003c0074 a0010c0138 a0053c0136 a0061c0122	a0001c0001t0054 a0002c0002t0003 a0003c0074t0011 others(3): Show a0001c0001t0054 a0002c0002t0003 a0003c0074t0011 a0010c0138t0012 a0053c0136t0025 a0061c0122t0004	a0001c0001t0054g0088 a0002c0002t0003g0143 a0003c0074t0011g0163 others(3): Show a0001c0001t0054g0088 a0002c0002t0003g0143 a0003c0074t0011g0163 a0010c0138t0012g0005 a0053c0136t0025g0011 a0061c0122t0004g0075	6	292	0.0206	-96	c.-37 others(105): Show c.-379_-284delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCG GGGCCGGCGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					220		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260661	CCGGCGGC others(89): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0019 a0006c0011t0005 a0006c0011t0019	a0006c0011t0005g0210 a0006c0011t0019g0229 a0006c0011t0005g0210 a0006c0011t0019g0229	2	292	0.0069	-96	c.-34 others(105): Show c.-349_-254delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCG GGGCCGGCGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					190		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260691	CCGGCGGC others(89): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01993.hp2 others(2): Show HG01192.hp2 HG01361.hp1 HG01993.hp2 HG02040.hp2 HG02683.hp2	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0010 a0005c0007 a0013c0012 a0002c0010 a0005c0007 a0013c0012	a0002c0010t0010 a0005c0007t0004 a0013c0012t0055 others(1): Show a0002c0010t0010 a0005c0007t0004 a0013c0012t0055 a0013c0012t0056	a0002c0010t0010g0212 a0005c0007t0004g0207 a0005c0007t0004g0211 others(2): Show a0002c0010t0010g0212 a0005c0007t0004g0207 a0005c0007t0004g0211 a0013c0012t0055g0225 a0013c0012t0056g0192	5	292	0.0171	-96	c.-31 others(105): Show c.-319_-224delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCG GGGCCGGCGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					160		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260721	CCGGCGGC others(89): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0089 a0089	a0089c0115 a0089c0115	a0089c0115t0006 a0089c0115t0006	a0089c0115t0006g0035 a0089c0115t0006g0035	1	292	0.0034	-96	c.-28 others(105): Show c.-289_-194delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCG GGGCCGGCGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					130		chr17	TogoVar
RNF213_chr17_80255852_80403794	80313866	GTGAAGGT others(89): Show GTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGAT GGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01081.hp1 others(22): Show HG00609.hp2 HG00639.hp2 HG01081.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02622.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 NA18906.hp2 NA20129.hp2	a0001 a0002 a0008 others(7): Show a0001 a0002 a0008 a0017 a0051 a0052 a0053 a0054 a0069 a0084	a0001c0006 a0001c0075 a0002c0002 others(12): Show a0001c0006 a0001c0075 a0002c0002 a0002c0010 a0002c0035 a0002c0039 a0002c0061 a0008c0013 a0017c0019 a0051c0135 a0052c0134 a0053c0136 a0054c0137 a0069c0065 a0084c0051	a0001c0006t0011 a0001c0075t0015 a0002c0002t0003 others(17): Show a0001c0006t0011 a0001c0075t0015 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0010t0004 a0002c0010t0005 a0002c0035t0003 a0002c0039t0014 a0002c0061t0004 a0008c0013t0028 a0008c0013t0044 a0017c0019t0024 a0051c0135t0078 a0052c0134t0008 a0053c0136t0025 a0054c0137t0016 a0069c0065t0025 a0084c0051t0013	a0001c0006t0011g0051 a0001c0075t0015g0099 a0002c0002t0003g0184 others(22): Show a0001c0006t0011g0051 a0001c0075t0015g0099 a0002c0002t0003g0184 a0002c0002t0003g0230 a0002c0002t0004g0129 a0002c0002t0004g0183 a0002c0002t0005g0182 a0002c0002t0009g0105 a0002c0010t0004g0187 a0002c0010t0005g0186 a0002c0035t0003g0093 a0002c0039t0014g0240 a0002c0061t0004g0190 a0008c0013t0028g0241 a0008c0013t0028g0250 a0008c0013t0044g0236 a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278 a0051c0135t0078g0016 a0052c0134t0008g0014 a0053c0136t0025g0011 a0054c0137t0016g0015 a0069c0065t0025g0029 a0084c0051t0013g0110	25	292	0.0856	-96	c.281 others(113): Show c.2811+702_2811+797delAAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATG GTGGTGGTGGAGGTGATG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80313905	GTGGTGGT others(89): Show GTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01952.hp2 HG02083.hp1 others(11): Show HG00558.hp1 HG01952.hp2 HG02083.hp1 HG03831.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18986.hp1 NA19004.hp1 NA19005.hp2 NA19082.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0024 a0074	a0001c0029 a0001c0125 a0002c0002 others(6): Show a0001c0029 a0001c0125 a0002c0002 a0003c0005 a0003c0030 a0003c0077 a0004c0009 a0024c0026 a0074c0068	a0001c0029t0007 a0001c0029t0011 a0001c0125t0011 others(9): Show a0001c0029t0007 a0001c0029t0011 a0001c0125t0011 a0002c0002t0009 a0003c0005t0007 a0003c0030t0007 a0003c0077t0023 a0004c0009t0005 a0004c0009t0009 a0004c0009t0010 a0024c0026t0007 a0074c0068t0019	a0001c0029t0007g0039 a0001c0029t0011g0041 a0001c0125t0011g0071 others(11): Show a0001c0029t0007g0039 a0001c0029t0011g0041 a0001c0125t0011g0071 a0002c0002t0009g0042 a0003c0005t0007g0058 a0003c0030t0007g0037 a0003c0030t0007g0049 a0003c0077t0023g0056 a0004c0009t0005g0273 a0004c0009t0009g0043 a0004c0009t0009g0265 a0004c0009t0010g0057 a0024c0026t0007g0140 a0074c0068t0019g0252	14	292	0.0480	-96	c.281 others(113): Show c.2811+745_2811+840delTGATGGTGGAGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGTGAAGGTGATGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80313992	GTGAAGGT others(89): Show GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGAT GGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0009 a0023 a0009 a0023	a0009c0016 a0023c0088 a0009c0016 a0023c0088	a0009c0016t0003 a0023c0088t0013 a0009c0016t0003 a0023c0088t0013	a0009c0016t0003g0138 a0023c0088t0013g0165 a0009c0016t0003g0138 a0023c0088t0013g0165	2	292	0.0069	-96	c.281 others(113): Show c.2811+828_2811+923delAAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATG GTGGTGGTGGAGGTGATG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314439	GTGGAGGT others(89): Show GTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGA GGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0077 a0003c0077	a0003c0077t0023 a0003c0077t0023	a0003c0077t0023g0056 a0003c0077t0023g0056	1	292	0.0034	-96	c.281 others(115): Show c.2811+1273_2811+1368delTGGAGGTAATGGAGGTGATGGTGGTG ATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314664	GAGGTAAT others(89): Show GAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01106.hp1 others(17): Show HG00544.hp2 HG01069.hp1 HG01106.hp1 HG02055.hp1 HG02083.hp1 HG02148.hp1 HG02451.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 NA18906.hp1 NA18954.hp1 NA19043.hp1 NA19087.hp1	a0001 a0003 a0010 others(8): Show a0001 a0003 a0010 a0014 a0020 a0021 a0033 a0050 a0088 a0090 a0104	a0001c0001 a0001c0071 a0001c0072 others(11): Show a0001c0001 a0001c0071 a0001c0072 a0001c0125 a0003c0077 a0010c0017 a0014c0020 a0020c0031 a0021c0032 a0033c0143 a0050c0092 a0088c0116 a0090c0114 a0104c0119	a0001c0001t0001 a0001c0001t0052 a0001c0071t0001 others(14): Show a0001c0001t0001 a0001c0001t0052 a0001c0071t0001 a0001c0072t0002 a0001c0125t0011 a0003c0077t0023 a0010c0017t0006 a0010c0017t0012 a0014c0020t0003 a0014c0020t0014 a0020c0031t0012 a0021c0032t0036 a0033c0143t0013 a0050c0092t0037 a0088c0116t0016 a0090c0114t0066 a0104c0119t0038	a0001c0001t0001g0160 a0001c0001t0052g0054 a0001c0071t0001g0055 others(17): Show a0001c0001t0001g0160 a0001c0001t0052g0054 a0001c0071t0001g0055 a0001c0072t0002g0038 a0001c0125t0011g0071 a0003c0077t0023g0056 a0010c0017t0006g0089 a0010c0017t0006g0090 a0010c0017t0012g0097 a0014c0020t0003g0002 a0014c0020t0003g0277 a0014c0020t0014g0257 a0020c0031t0012g0026 a0021c0032t0036g0021 a0021c0032t0036g0022 a0033c0143t0013g0177 a0050c0092t0037g0279 a0088c0116t0016g0238 a0090c0114t0066g0258 a0104c0119t0038g0247	20	292	0.0685	-96	c.281 others(115): Show c.2811+1498_2811+1593delAGGTAATGGAGGTGGTGGTGGTGGTG GTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGT GATGGTGATGGTGGAGGTAC		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314838	ATGGTGGT others(89): Show ATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0006 a0025c0038t0006	a0025c0038t0006g0007 a0025c0038t0006g0007	1	292	0.0034	-96	c.281 others(115): Show c.2811+1678_2811+1773delTGGTGGTGGTGGTGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGT GGTGGTGAAGGTGTTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530228	GGTCAGCC others(89): Show GGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAG TCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(153): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0038 a0001c0001t0041 a0001c0008t0007 a0001c0011t0012 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0002g0029 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0232 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0038 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0117 a0001c0001t0004g0072 a0001c0001t0007g0011 a0001c0001t0007g0054 a0001c0001t0007g0157 a0001c0001t0008g0172 a0001c0001t0008g0184 a0001c0001t0012g0043 a0001c0001t0012g0097 a0001c0001t0019g0070 a0001c0001t0027g0084 a0001c0001t0028g0096 a0001c0001t0029g0103 a0001c0001t0038g0173 a0001c0001t0041g0235 a0001c0008t0007g0155 a0001c0011t0012g0104 a0002c0002t0001g0055 a0002c0002t0001g0162 a0002c0002t0003g0095	156	444	0.3514	-96	c.802 others(110): Show c.802-118_802-23delTTGCACCTGGGCTCCGGGGCGGCTGGGAGGC AGGCCCACCGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGAGGCAG GCCTGCTGGGCTGAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530240	AGGCCTGC others(89): Show AGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTGG GCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01358.hp1 others(5): Show HG00099.hp1 HG00639.hp2 HG01358.hp1 HG02280.hp1 HG04204.hp1 NA18970.hp1 NA19000.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0001 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0165 a0001c0001t0001g0186 a0001c0001t0005g0109 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0186 a0001c0001t0005g0109 a0001c0001t0014g0013	8	444	0.0180	-96	c.802 others(110): Show c.802-130_802-35delCACCGGGCTGACTTGCACCTGGGCTCCGGGG CGGCTGGGAGGCAGGCCCACCGGGCTGACTTGCACCTGGGCTCCGGGGCG GCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530270	GGTGCAAG others(89): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGG TGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01109.hp2 others(54): Show HG00408.hp2 HG00558.hp2 HG01109.hp2 HG01175.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02055.hp2 HG02071.hp2 HG02155.hp2 HG02293.hp2 HG02572.hp2 HG02622.hp1 HG02735.hp1 HG03041.hp1 HG03098.hp2 HG03579.hp1 HG03704.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18947.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0009 others(3): Show a0001c0001 a0001c0004 a0001c0009 a0001c0010 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0030 a0001c0004t0002 a0001c0009t0004 a0001c0010t0033 a0002c0002t0001 a0003c0006t0024	a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0154 others(30): Show a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0002g0217 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0018 a0001c0001t0004g0030 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0077 a0001c0001t0005g0042 a0001c0001t0005g0091 a0001c0001t0005g0105 a0001c0001t0005g0111 a0001c0001t0005g0115 a0001c0001t0006g0008 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0079 a0001c0001t0006g0081 a0001c0001t0008g0129 a0001c0001t0009g0177 a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0021g0178 a0001c0001t0021g0181 a0001c0001t0030g0199 a0001c0004t0002g0063 a0001c0009t0004g0075 a0001c0010t0033g0132 a0002c0002t0001g0171 a0003c0006t0024g0067	57	444	0.1284	-96	c.802 others(110): Show c.802-160_802-65delGTGGGCTCCGGGGCGGCTGGGAGGCAGGCCC ACCGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGAGGCAGGCCCAC CGGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530336	GGGCCTGC others(89): Show GGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTGG GCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02970.hp2 others(3): Show HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0022 a0001c0001t0010 a0001c0003t0022	a0001c0001t0010g0014 a0001c0003t0022g0047 a0001c0001t0010g0014 a0001c0003t0022g0047	6	444	0.0135	-96	c.801 others(111): Show c.801+150_802-131delTGCTGGGCTGACTTGCACCTGGGCTCCGGG GCGGCTGGGAGGCAGGCCCACCGGGCTGACTTGCACGTGGGCTCCGGGGC GGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar

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Search Results (Total: 10000 hits)