Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RD3_chr1_211471522_211497162	211483553	GAGAGTGG others(26): Show GAGAGTGGGACGAAAGGACGAACCATTAGACCCT	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0134 a0001c0004t0014g0134	1	416	0.0024	-33	c.-11 others(50): Show c.-11-2160_-11-2128delAGGGTCTAATGGTTCGTCCTTTCGTCCC ACTCT	RD3	ENSG00000198570.7	transcript	ENST00000680073.1	protein_coding	1/2			chr1	TogoVar
RDH12_chr14_67696886_67739451	67730713	CCTGACTC others(26): Show CCTGACTCAGCCTCCTGAGTAGCTGGGATTACAG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	434	0.0023	-33	c.848 others(50): Show c.848+1334_848+1366delCTGACTCAGCCTCCTGAGTAGCTGGGAT TACAG	RDH12	ENSG00000139988.10	transcript	ENST00000551171.6	protein_coding	8/8			chr14	TogoVar
RDX_chr11_110224441_110301614	110284315	GCAGCATT others(26): Show GCAGCATTCTTTACAATAGCCAATGATTACAATC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	376	0.0027	-33	c.-64 others(50): Show c.-64-4592_-64-4560delGATTGTAATCATTGGCTATTGTAAAGAA TGCTG	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REEP3_chr10_63516401_63630128	63563675	GGTGACTT others(26): Show GGTGACTTCTTTCCAAATAATATAGTACTAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG03098.hp2 others(3): Show HG02622.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0033 a0001c0001t0063	a0001c0001t0001g0013 a0001c0001t0002g0018 a0001c0001t0009g0014 others(3): Show a0001c0001t0001g0013 a0001c0001t0002g0018 a0001c0001t0009g0014 a0001c0001t0033g0015 a0001c0001t0033g0017 a0001c0001t0063g0016	6	284	0.0211	-33	c.33- others(48): Show c.33-2659_33-2627delACTTCTTTCCAAATAATATAGTACTAAAAA GTG	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP6_chr19_1486181_1502927	1500594	AGGCTGAT others(26): Show AGGCTGATGCAGGGGAATCGCTTGAACCCGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	318	0.0031	-33	c.33 others(44): Show c.3384_*3416delGGCTGATGCAGGGGAATCGCTTGAACCCGGGAG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2668		chr19	TogoVar
REM1_chr20_31470288_31489895	31471451	GCGGGGGA others(26): Show GCGGGGGACTGACCCCCCCCACCTCCCTCCCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18959.hp1 NA18999.hp1 others(1): Show NA18957.hp1 NA18959.hp1 NA18999.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0078	4	344	0.0116	-33	c.-41 others(44): Show c.-4134_-4102delCGGGGGACTGACCCCCCCCACCTCCCTCCCGGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3836		chr20	TogoVar
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	288	0.0035	-33	c.925 others(52): Show c.9253-3548_9253-3516delAAAGTCATAGTCTGTTAAAAAAAAAA AAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RFX3_chr9_3213297_3531001	3427392	TATATATA others(26): Show TATATATAAATATATATTGTTATATAATAATACA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01981.hp1 others(21): Show HG00741.hp1 HG01243.hp1 HG01981.hp1 HG02083.hp2 HG02451.hp1 HG02486.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp1 HG06807.hp1 NA18906.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0001t0047 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071	a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0118 others(21): Show a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0118 a0001c0001t0001g0172 a0001c0001t0002g0162 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0075 a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0016g0022 a0001c0001t0016g0069 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0023g0004 a0001c0001t0023g0072 a0001c0001t0024g0147 a0001c0001t0027g0109 a0001c0001t0033g0002 a0001c0001t0047g0082 a0001c0001t0069g0189 a0001c0001t0070g0190 a0001c0001t0071g0191	24	196	0.1225	-33	c.-8- others(50): Show c.-8-31829_-8-31797delTGTATTATTATATAACAATATATATTTA TATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGS12_chr4_3288021_3444913	3301606	GAGTGAGG others(26): Show GAGTGAGGCCGGGGTCCGAGGGCCGGGGATGGAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02004.hp2 others(15): Show HG01167.hp1 HG01243.hp2 HG02004.hp2 HG02132.hp1 HG02145.hp2 HG02523.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 HG03710.hp1 HG04184.hp1 NA19030.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0038 a0005c0012 a0005c0051 others(4): Show a0004c0038 a0005c0012 a0005c0051 a0005c0052 a0005c0054 a0006c0015 a0006c0046	a0004c0038t0001 a0005c0012t0001 a0005c0051t0001 others(4): Show a0004c0038t0001 a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0054t0001 a0006c0015t0002 a0006c0046t0002	a0004c0038t0001g0146 a0005c0012t0001g0151 a0005c0012t0001g0152 others(15): Show a0004c0038t0001g0146 a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160 a0005c0051t0001g0153 a0005c0052t0001g0159 a0005c0054t0001g0154 a0006c0015t0002g0092 a0006c0015t0002g0094 a0006c0015t0002g0095 a0006c0015t0002g0096 a0006c0015t0002g0097 a0006c0015t0002g0098 a0006c0046t0002g0093	18	312	0.0577	-33	c.-10 others(52): Show c.-102+8530_-102+8562delCGGGGATGGACAGTGAGGCCGGGGTC CGAGGGC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3413063	CCCCACAC others(26): Show CCCCACACTGCTCACGTCAGGAGGGACGGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	312	0.0032	-33	c.202 others(51): Show c.2021-1005_2021-973delACACTGCTCACGTCAGGAGGGACGGGG GCGCCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS20_chr8_53846795_53964303	53947196	CGCTATAT others(26): Show CGCTATATAAGATATAGCATATTTATTTATACAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	258	0.0039	-33	c.743 others(48): Show c.743+503_743+535delTTATTTATACATGCTATATAAGATATAGCA TAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53947465	AGATATAG others(26): Show AGATATAGTATATACATTTATATATGCTATATAG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	258	0.0039	-33	c.743 others(48): Show c.743+816_743+848delGGATATAGTATATACATTTATATATGCTAT ATA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949199	CTATATAA others(26): Show CTATATAAGATACAGTATATATTTATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	258	0.0039	-33	c.743 others(50): Show c.743+2539_743+2571delTTATATATACTATATATAAGATACAGTA TATAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS7BP_chr5_64501015_64617319	64605918	TATATATA others(26): Show TATATATATGCTATATATATGTATATCTGGATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	280	0.0036	-33	c.683 others(50): Show c.683-3234_683-3202delGCTATATATATGTATATCTGGATACATA TATAT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS9_chr17_65132370_65232703	65199799	GTTCCTTT others(26): Show GTTCCTTTTTAATGACTGCATAATATTTCCTTCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp2 HG01261.hp2 others(8): Show HG01106.hp2 HG01169.hp2 HG01261.hp2 HG01891.hp1 HG02135.hp1 HG02809.hp2 HG02922.hp2 HG03209.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0089 others(8): Show a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0188 a0001c0003t0001g0060	11	222	0.0496	-33	c.977 others(50): Show c.977-2178_977-2146delTGCATAATATTTCCTTCATTCCTTTTTA ATGAC	RGS9	ENSG00000108370.17	transcript	ENST00000262406.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
RHBDD3_chr22_29254872_29272981	29270806	TCTGCATT others(26): Show TCTGCATTTAGTTTTAATGTCAGAGAGAGTATGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	452	0.0022	-33	c.-32 others(44): Show c.-3286_-3254delTCATACTCTCTCTGACATTAAAACTAAATGCAG	RHBDD3	ENSG00000100263.14	transcript	ENST00000216085.12	protein_coding		2826		chr22	TogoVar
RHCE_chr1_25357249_25425825	25379473	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02109.hp1 HG02258.hp1 HG02486.hp1	a0007 a0020 a0007 a0020	a0007c0007 a0020c0019 a0007c0007 a0020c0019	a0007c0007t0001 a0020c0019t0001 a0007c0007t0001 a0020c0019t0001	a0007c0007t0001g0151 a0007c0007t0001g0185 a0020c0019t0001g0010 a0007c0007t0001g0151 a0007c0007t0001g0185 a0020c0019t0001g0010	3	334	0.0090	-33	c.107 others(52): Show c.1074-4078_1074-4046delAAAAAAAAAAATATATATATATATAT ATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379475	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02572.hp1 others(2): Show HG01070.hp1 HG01071.hp2 HG02572.hp1 HG02809.hp1 HG02886.hp1	a0005 a0007 a0005 a0007	a0005c0005 a0007c0007 a0005c0005 a0007c0007	a0005c0005t0001 a0007c0007t0001 a0005c0005t0001 a0007c0007t0001	a0005c0005t0001g0004 a0007c0007t0001g0002 a0007c0007t0001g0184 a0005c0005t0001g0004 a0007c0007t0001g0002 a0007c0007t0001g0184	5	334	0.0150	-33	c.107 others(52): Show c.1074-4080_1074-4048delAAAAAAAAAAAAATATATATATATAT ATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379477	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp2 HG03209.hp1 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0322 a0005c0005t0001g0324 a0005c0005t0001g0322 a0005c0005t0001g0324	2	334	0.0060	-33	c.107 others(52): Show c.1074-4082_1074-4050delAAAAAAAAAAAAAAATATATATATAT ATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHOF_chr12_121772754_121798688	121790220	CCTGGGTG others(26): Show CCTGGGTGTGGAGAAATTCAGCCTCTGAGAGCCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0058 a0001c0001t0042g0058	1	386	0.0026	-33	c.226 others(50): Show c.226+2899_226+2931delTGGCTCTCAGAGGCTGAATTTCTCCACA CCCAG	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RHOT1_chr17_32137502_32230727	32142451	CCCGCCGC others(26): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	284	0.0035	-33	c.-24 others(42): Show c.-241_-209delCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding		50		chr17	TogoVar
RIBC2_chr22_45408693_45437509	45421514	TTAATAAT others(26): Show TTAATAATAATAATAGTATTATTAATAATATTAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(160): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0008 a0014	a0001c0001 a0001c0010 a0001c0017 others(5): Show a0001c0001 a0001c0010 a0001c0017 a0004c0004 a0005c0005 a0006c0007 a0008c0012 a0014c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0010t0003 a0001c0017t0001 a0004c0004t0001 a0005c0005t0001 a0006c0007t0001 a0008c0012t0001 a0014c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(90): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0036 a0001c0001t0002g0070 a0001c0001t0003g0103 a0001c0001t0003g0115 a0001c0001t0003g0197 a0001c0001t0004g0006 a0001c0001t0004g0010 a0001c0001t0004g0016 a0001c0001t0004g0163 a0001c0001t0006g0151 a0001c0010t0003g0046 a0001c0017t0001g0198 a0004c0004t0001g0117 a0005c0005t0001g0017 a0006c0007t0001g0060 a0006c0007t0001g0181 a0006c0007t0001g0195 a0008c0012t0001g0053 a0014c0013t0001g0003	163	424	0.3844	-33	c.557 others(48): Show c.557-764_557-732delATAGTATTATTAATAATATTAATAATAATA ATA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIBC2_chr22_45408693_45437509	45421562	TTATTAAT others(26): Show TTATTAATAATAGTATTATTAATAATAATAATAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp2 others(2): Show HG01069.hp2 HG01070.hp2 HG01071.hp2 HG02300.hp1 HG02723.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 a0003c0003t0001 a0003c0003t0003 a0004c0004t0002	a0003c0003t0001g0147 a0003c0003t0003g0026 a0004c0004t0002g0201 a0003c0003t0001g0147 a0003c0003t0003g0026 a0004c0004t0002g0201	5	424	0.0118	-33	c.557 others(48): Show c.557-722_557-690delATAATAGTATTATTAATAATAATAATAGTA TTA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIOK2_chr5_97155867_97188247	97182782	GGGGGGGG others(26): Show GGGGGGGGGGGGCTTAAACCTTTCACAGCTGGTC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	410	0.0024	-33	c.66+ others(46): Show c.66+311_66+343delGACCAGCTGTGAAAGGTTTAAGCCCCCCCCCC C	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK3_chr18_23448287_23488140	23478618	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02647.hp2 others(2): Show HG02258.hp2 HG02615.hp2 HG02647.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0246	5	402	0.0124	-33	c.134 others(50): Show c.1345-698_1345-666delATATATATATATATATATATATATATAT ATATA	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	11/12			chr18	TogoVar
RIPOR2_chr6_24799284_24940960	24927170	TCACCACC others(26): Show TCACCACCACCATGACCACCACCACAACTACAAG	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0056 a0002c0002t0003g0056	1	328	0.0031	-33	c.61+ others(48): Show c.61+8635_61+8667delCTTGTAGTTGTGGTGGTGGTCATGGTGGTG GTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RMND1_chr6_151399762_151457126	151450422	CGGCCAGC others(26): Show CGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02647.hp2 others(6): Show HG02055.hp2 HG02109.hp2 HG02647.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0005t0001 a0001c0007t0001 others(1): Show a0001c0001t0002 a0001c0005t0001 a0001c0007t0001 a0001c0007t0002	a0001c0001t0002g0261 a0001c0005t0001g0013 a0001c0005t0001g0262 others(5): Show a0001c0001t0002g0261 a0001c0005t0001g0013 a0001c0005t0001g0262 a0001c0005t0001g0263 a0001c0005t0001g0264 a0001c0007t0001g0242 a0001c0007t0001g0244 a0001c0007t0002g0243	9	392	0.0230	-33	c.-15 others(50): Show c.-15+1561_-15+1593delCCCCCACCTCCCTCCCAGACGGGGTGGC TGGCC	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RMND1_chr6_151399762_151457126	151455649	CGAGACAT others(26): Show CGAGACATTCCATTGCCCAGGGACGGGCAGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	392	0.0026	-33	c.-36 others(44): Show c.-3681_-3649delTCTCCTGCCCGTCCCTGGGCAATGGAATGTCTC	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding		3524		chr6	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01070.hp1 others(39): Show HG00597.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01934.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02451.hp1 HG02717.hp1 HG02818.hp1 HG02970.hp1 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18949.hp1 NA18969.hp2 NA18980.hp2 NA18985.hp2 NA18991.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19030.hp2 NA19058.hp2 NA19066.hp2 NA19067.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0077 others(37): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0285 a0001c0001t0001g0309 a0001c0001t0001g0339 a0001c0001t0008g0106 a0001c0004t0001g0216 a0001c0011t0001g0111 a0002c0002t0001g0282 a0002c0002t0001g0283	42	372	0.1129	-33	c.554 others(48): Show c.554+371_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF150_chr4_140854807_141138469	141000054	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18945.hp1 HG02004.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0038 a0001c0001t0030 a0001c0001t0038	a0001c0001t0030g0181 a0001c0001t0038g0102 a0001c0001t0030g0181 a0001c0001t0038g0102	2	184	0.0109	-33	c.485 others(52): Show c.485-32214_485-32182delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF212_chr4_1066478_1118564	1079066	GGGACCAA others(26): Show GGGACCAACACAGGGTCAACACAGGACCAACATA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03516.hp2 NA19070.hp1 HG03492.hp1 HG03516.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0006 a0001c0001t0001 a0001c0001t0005 a0001c0002t0006	a0001c0001t0001g0061 a0001c0001t0005g0045 a0001c0002t0006g0360 a0001c0001t0001g0061 a0001c0001t0005g0045 a0001c0002t0006g0360	3	406	0.0074	-33	c.510 others(48): Show c.510+544_510+576delTATGTTGGTCCTGTGTTGACCCTGTGTTGG TCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	8/9			chr4	TogoVar
RNF213_chr17_80255852_80403794	80314157	GTGTAGGT others(26): Show GTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02145.hp2 others(4): Show HG00639.hp2 HG01243.hp1 HG02145.hp2 HG02622.hp2 HG02965.hp2 HG03130.hp2 HG03579.hp1	a0002 a0008 a0051 others(3): Show a0002 a0008 a0051 a0052 a0054 a0069	a0002c0039 a0008c0013 a0051c0135 others(3): Show a0002c0039 a0008c0013 a0051c0135 a0052c0134 a0054c0137 a0069c0065	a0002c0039t0014 a0008c0013t0028 a0008c0013t0044 others(4): Show a0002c0039t0014 a0008c0013t0028 a0008c0013t0044 a0051c0135t0078 a0052c0134t0008 a0054c0137t0016 a0069c0065t0025	a0002c0039t0014g0240 a0008c0013t0028g0241 a0008c0013t0044g0236 others(4): Show a0002c0039t0014g0240 a0008c0013t0028g0241 a0008c0013t0044g0236 a0051c0135t0078g0016 a0052c0134t0008g0014 a0054c0137t0016g0015 a0069c0065t0025g0029	7	292	0.0240	-33	c.281 others(51): Show c.2811+991_2811+1023delTGTAGGTGATGGTGGAGGTGATGGTGG TGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314502	GTGGTGGA others(26): Show GTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03834.hp2 others(1): Show HG03490.hp1 HG03492.hp2 HG03834.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005	a0002c0002t0003g0184 a0002c0002t0004g0129 a0002c0002t0004g0183 others(1): Show a0002c0002t0003g0184 a0002c0002t0004g0129 a0002c0002t0004g0183 a0002c0002t0005g0182	4	292	0.0137	-33	c.281 others(52): Show c.2811+1336_2811+1368delTGGTGGAGGTAATGGAGGTGATGGTG GTGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314955	ATGGTGGT others(26): Show ATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01192.hp2 HG01358.hp1 others(15): Show HG00597.hp2 HG01192.hp2 HG01358.hp1 HG01993.hp2 HG02273.hp1 HG02683.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 NA18522.hp2 NA18946.hp2 NA18966.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0013 a0018 a0076	a0001c0001 a0002c0002 a0002c0027 others(6): Show a0001c0001 a0002c0002 a0002c0027 a0002c0035 a0003c0005 a0005c0007 a0013c0012 a0018c0033 a0076c0133	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0021 a0002c0027t0001 a0002c0035t0003 a0002c0035t0004 a0003c0005t0011 a0003c0005t0023 a0005c0007t0004 a0013c0012t0055 a0018c0033t0016 a0076c0133t0081	a0001c0001t0001g0133 a0001c0001t0002g0124 a0002c0002t0003g0184 others(15): Show a0001c0001t0001g0133 a0001c0001t0002g0124 a0002c0002t0003g0184 a0002c0002t0004g0129 a0002c0002t0004g0145 a0002c0002t0004g0183 a0002c0002t0005g0182 a0002c0002t0021g0114 a0002c0027t0001g0102 a0002c0035t0003g0093 a0002c0035t0004g0094 a0003c0005t0011g0135 a0003c0005t0023g0134 a0005c0007t0004g0207 a0005c0007t0004g0211 a0013c0012t0055g0225 a0018c0033t0016g0275 a0076c0133t0081g0008	18	292	0.0616	-33	c.281 others(52): Show c.2811+1796_2811+1828delCGTGTAGGTGATGGTGGAGGTGATGG TGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315141	GTGGTAAA others(26): Show GTGGTAAAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0036 a0036	a0036c0144 a0036c0144	a0036c0144t0003 a0036c0144t0003	a0036c0144t0003g0173 a0036c0144t0003g0173	1	292	0.0034	-33	c.281 others(52): Show c.2811+1979_2812-2010delAAAGGTGATGGTGGAGGTAATGGAGG TGATGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315258	ATGGTGGA others(26): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0029 a0001c0053t0029	a0001c0053t0029g0205 a0001c0053t0029g0205	1	292	0.0034	-33	c.281 others(52): Show c.2812-1894_2812-1862delGTGGAGGTAATGGAGGTGATGGTGGT GGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88947801	GTGAGGAG others(26): Show GTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	220	0.0046	-33	c.65- others(48): Show c.65-6654_65-6622delTCAGACGGGGCGGCCGGGCAGAGACGCTCC TCA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RNH1_chr11_489515_512242	508139	TTGCTAAA others(26): Show TTGCTAAACCTCTCCTCTGACTGCCTTTATTAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0098 a0001c0009t0001g0098	1	387	0.0026	-33	c.-13 others(44): Show c.-1320_-1288delCCTAATAAAGGCAGTCAGAGGAGAGGTTTAGCA	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		898		chr11	TogoVar
RNH1_chr11_489515_512242	508733	CTCCAGTT others(26): Show CTCCAGTTCGGGCAACAAGATGAAACTCTGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	387	0.0026	-33	c.-19 others(44): Show c.-1914_-1882delCAGCCAGAGTTTCATCTTGTTGCCCGAACTGGA	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		1492		chr11	TogoVar
ROBO1_chr3_78592239_79772998	78711347	CCTCCTTC others(26): Show CCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	44	0.0227	-33	c.104 others(52): Show c.1045+3017_1045+3049delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROR1_chr1_63769017_64186498	63899828	AAAACCAT others(26): Show AAAACCATAACTGTTACTCTTGGTTTTAAATATC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0007 a0001c0008t0001g0007	1	96	0.0104	-33	c.92- others(52): Show c.92-109470_92-109438delTAACTGTTACTCTTGGTTTTAAATAT CAAACCA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	61011829	TCTTCACT others(26): Show TCTTCACTTAGAGTTCATGCCACCAAGCCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0027 a0001c0005t0004g0027	1	118	0.0085	-33	c.166 others(54): Show c.166+217191_166+217223delCTTGAGGCTTGGTGGCATGAACTC TAAGTGAAG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61059988	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0069 a0001c0004t0019g0069	1	118	0.0085	-33	c.166 others(54): Show c.166+169032_166+169064delTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAP3_chr12_47656249_47711030	47709746	TTCAATGA others(26): Show TTCAATGACTTTAATTGGAAACTTGAACCTTCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	414	0.0024	-33	c.-38 others(44): Show c.-3834_-3802delTAGAAGGTTCAAGTTTCCAATTAAAGTCATTGA	RPAP3	ENSG00000005175.10	transcript	ENST00000005386.8	protein_coding		3717		chr12	TogoVar
RPGRIP1_chr14_21275083_21356301	21349596	TTCTTCAT others(26): Show TTCTTCATGTTGGTCAGGCTGGTCTCGAACTCCC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0200 a0001c0004t0001g0200	1	332	0.0030	-33	c.374 others(52): Show c.3748+1295_3748+1327delTCTTCATGTTGGTCAGGCTGGTCTCG AACTCCC	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	24/24			chr14	TogoVar
RPH3AL_chr17_207389_357807	215945	TCACCCAC others(26): Show TCACCCACATGGCTGCCGGGCTCTGGCCTGACCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01192.hp2 others(11): Show HG00323.hp1 HG00544.hp2 HG01192.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0012 a0001c0001 a0001c0003 a0003c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0031 a0001c0001t0034 a0001c0003t0001 a0001c0003t0030 a0001c0003t0036 a0003c0012t0005	a0001c0001t0001g0043 a0001c0001t0001g0119 a0001c0001t0005g0132 others(11): Show a0001c0001t0001g0043 a0001c0001t0001g0119 a0001c0001t0005g0132 a0001c0001t0006g0072 a0001c0001t0008g0113 a0001c0001t0009g0066 a0001c0001t0010g0015 a0001c0001t0017g0099 a0001c0001t0031g0067 a0001c0001t0034g0018 a0001c0003t0001g0068 a0001c0003t0030g0122 a0001c0003t0036g0064 a0003c0012t0005g0020	14	133	0.1053	-33	c.728 others(48): Show c.728-176_728-144delGGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	216176	TCACCCAC others(26): Show TCACCCACATGGCTGCCGGGCTCTGGCCTGACCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	133	0.0075	-33	c.728 others(48): Show c.728-407_728-375delGGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242354	CCTTCCTC others(26): Show CCTTCCTCTATTGACTACCTTCCTCTATTGACTA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	133	0.0075	-33	c.613 others(50): Show c.613+4724_613+4756delTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPIA_chr2_88686673_88755929	88747043	CCAGGGCA others(26): Show CCAGGGCAGGTAGAGAAAAACCATCAGGTTAGGG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	368	0.0027	-33	c.839 others(50): Show c.839-2934_839-2902delGGCAGGTAGAGAAAAACCATCAGGTTAG GGCAG	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPL4_chr15_66493015_66509855	66509822	CATATATA others(26): Show CATATATATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03471.hp1 NA18522.hp1 others(1): Show HG03041.hp2 HG03471.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0002 a0001c0001t0001g0017 a0001c0001t0002g0002	4	428	0.0094	-33	c.-50 others(44): Show c.-5065_-5033delTATATATATATATATATATATATATATATATAT	RPL4	ENSG00000174444.15	transcript	ENST00000307961.11	protein_coding		4968		chr15	TogoVar

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