Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RIN2_chr20_19753258_20007456	19844670	CTTCTTCT others(33): Show CTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0150 a0001c0002t0004g0150	1	276	0.0036	-40	c.-36 others(59): Show c.-36-44894_-36-44855delTCTTCTTCTTCTTCCTCTTCCTCTTC CTCTTCTTCTTCTT		RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
RIT2_chr18_42738227_43120685	42809826	TATATATA others(33): Show TATATATATAATTTGTATATATGTTATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02040.hp2 others(25): Show HG01243.hp2 HG01884.hp1 HG02040.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA19005.hp1 NA19060.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0046 others(25): Show a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0006g0059 a0001c0002t0001g0054 a0001c0002t0003g0004	28	240	0.1167	-40	c.427 others(59): Show c.427-66146_427-66107delTATATATAATATATATAACATATATA CAAATTATATATAT		RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4						chr18	TogoVar
RMDN2_chr2_37920287_38022744	37964145	CCTGCCGG others(33): Show CCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACAGGGCAG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	328	0.0031	-40	c.453 others(57): Show c.453-9856_453-9817delAGCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACAGGGC		RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
RMND1_chr6_151399762_151457126	151450134	GCCCGGCC others(33): Show GCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00621.hp1 others(98): Show HG00408.hp1 HG00609.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03579.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18993.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0008t0001 a0007c0012t0002	a0001c0001t0001g0094 a0001c0001t0002g0058 a0001c0001t0002g0075 others(98): Show a0001c0001t0001g0094 a0001c0001t0002g0058 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0005t0001g0141 a0002c0002t0001g0042 a0002c0002t0001g0048 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0065 a0002c0002t0002g0068 a0002c0002t0002g0072 a0002c0002t0002g0081 a0002c0002t0002g0108 a0002c0002t0002g0113 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0009g0056 a0002c0008t0001g0060 a0002c0008t0001g0115 a0007c0012t0002g0254	101	392	0.2577	-40	c.-15 others(57): Show c.-15+1842_-15+1881delAAGAGGTGCTCCTCACTTCCTAGATGGG ATGGCGGCCGGG		RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11						chr6	TogoVar
RNASE10_chr14_20500537_20518884	20505865	CGAGGAGC others(33): Show CGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00609.hp1 others(67): Show HG00280.hp1 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp2 NA18959.hp2 NA19000.hp1 NA19002.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp2 NA19080.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(16): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0042 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0107 a0002c0002t0040 a0002c0002t0041 a0002c0002t0104	a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0016 others(43): Show a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0054 a0001c0001t0004g0088 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0195 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0102 a0001c0001t0006g0130 a0001c0001t0006g0132 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0014g0013 a0001c0001t0014g0039 a0001c0001t0014g0040 a0001c0001t0014g0090 a0001c0001t0014g0108 a0001c0001t0014g0109 a0001c0001t0015g0010 a0001c0001t0016g0042 a0001c0001t0016g0092 a0001c0001t0016g0093 a0001c0001t0016g0104 a0001c0001t0029g0034 a0001c0001t0029g0194 a0001c0001t0042g0036 a0001c0001t0096g0091 a0001c0001t0097g0103 a0001c0001t0098g0054 a0001c0001t0099g0089 a0001c0001t0100g0099 a0001c0001t0101g0094 a0001c0001t0102g0101 a0001c0001t0103g0134 a0001c0001t0107g0100 a0002c0002t0040g0041 a0002c0002t0041g0097 a0002c0002t0041g0098 a0002c0002t0104g0096	70	396	0.1768	-40	c.-15 others(49): Show c.-151_-112delCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGAGG AGCG		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/2				4559	INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506113	TCCGGCAG others(33): Show TCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02895.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0031 a0001c0001t0028g0031	2	396	0.0051	-40	c.-6+ others(53): Show c.-6+112_-6+151delTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCC ACCCCGTC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0336 a0001c0001t0003g0336	1	372	0.0027	-40	c.554 others(55): Show c.554+364_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF139_chr8_124469880_124493618	124487207	ATGAATCG others(33): Show ATGAATCGTAGGACTGCTGTGAAGAAAATTAATTCACTTCC	A A	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0005 a0003c0005t0001g0005	1	408	0.0025	-40	c.156 others(49): Show c.1563_1602delTCGTAGGACTGCTGTGAAGAAAATTAATTCACTTCC TGAA	p.Asn others(5): Show p.Asn521fs	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	2/2	1793/3199	1563/1995	521/664		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF220_chr1_44400255_44656723	44564992	TGCACATA others(33): Show TGCACATAGCATGGGCCTGGCCTGAATCAACTCTATCCTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp2 HG02027.hp1 others(3): Show HG00423.hp1 HG02015.hp2 HG02027.hp1 HG02083.hp2 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0176 a0001c0001t0002g0026 a0001c0001t0002g0205	6	218	0.0275	-40	c.626 others(59): Show c.626-49140_626-49101delTATCCTTAGCACATAGCATGGGCCTG GCCTGAATCAACTC		RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF222_chr17_8385702_8402827	8388995	ACTTCCTT others(33): Show ACTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp1 NA18906.hp1 others(1): Show HG02109.hp1 HG03471.hp1 NA18906.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0015	4	436	0.0092	-40	c.37 others(51): Show c.3764_*3803delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG		RNF222	ENSG00000189051.6	transcript	ENST00000399398.3	protein_coding					1706		chr17	TogoVar
RNF222_chr17_8385702_8402827	8394583	GCATGCCA others(33): Show GCATGCCACCACCCATGGCTAATTTTTGTAATTTTAGTAGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0088 a0005c0006t0003g0088	1	436	0.0023	-40	c.-17 others(57): Show c.-177-294_-177-255delTCTACTAAAATTACAAAAATTAGCCATG GGTGGTGGCATG		RNF222	ENSG00000189051.6	transcript	ENST00000399398.3	protein_coding	1/2						chr17	TogoVar
RNF38_chr9_36331400_36405269	36341827	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	402	0.0025	-40	c.148 others(57): Show c.1485+458_1485+497delTTATATATATATATATATATATATATAT ATATATATATAT		RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11						chr9	TogoVar
RNFT2_chr12_116733315_116858631	116841760	AATATAAA others(33): Show AATATAAATATATATATATAAATATATATATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG02132.hp2 others(1): Show HG00438.hp1 HG02040.hp1 HG02132.hp2 HG02135.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0002 a0002c0010t0002 a0001c0001t0002 a0002c0010t0002	a0001c0001t0002g0209 a0002c0010t0002g0001 a0002c0010t0002g0002 others(1): Show a0001c0001t0002g0209 a0002c0010t0002g0001 a0002c0010t0002g0002 a0002c0010t0002g0254	4	268	0.0149	-40	c.120 others(59): Show c.1200+5496_1200+5535delTAAATATATATATATAAATATATATA TAAATATATATATA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841816	TAAAAATA others(33): Show TAAAAATATATATATATAAATATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp1 NA20129.hp1 HG01891.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0030 a0001c0005t0070 a0001c0005t0030 a0001c0005t0070	a0001c0005t0030g0051 a0001c0005t0030g0052 a0001c0005t0070g0050 a0001c0005t0030g0051 a0001c0005t0030g0052 a0001c0005t0070g0050	3	268	0.0112	-40	c.120 others(59): Show c.1200+5538_1200+5577delAATATATATATATAAATATATATATA AATATATATAAAAA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO2_chr3_77035099_77654964	77200267	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0048 a0001c0003t0002g0104 a0001c0001t0003g0048 a0001c0003t0002g0104	2	160	0.0125	-40	c.388 others(61): Show c.388+101943_388+101982delATATATATATATATATATATATAT ATATATATATATATAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROR2_chr9_91717601_91955228	91831652	GTAATCTC others(33): Show GTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00642.hp1 others(14): Show HG00544.hp1 HG00621.hp1 HG00642.hp1 HG01169.hp2 HG02027.hp2 HG02165.hp2 HG02683.hp2 HG03710.hp2 NA18747.hp2 NA18947.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA19012.hp1 NA19056.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0014	a0001c0001 a0002c0004 a0002c0006 others(4): Show a0001c0001 a0002c0004 a0002c0006 a0003c0003 a0004c0002 a0009c0016 a0014c0031	a0001c0001t0001 a0002c0004t0003 a0002c0004t0012 others(5): Show a0001c0001t0001 a0002c0004t0003 a0002c0004t0012 a0002c0006t0004 a0003c0003t0002 a0004c0002t0002 a0009c0016t0007 a0014c0031t0004	a0001c0001t0001g0166 a0001c0001t0001g0169 a0002c0004t0003g0112 others(14): Show a0001c0001t0001g0166 a0001c0001t0001g0169 a0002c0004t0003g0112 a0002c0004t0012g0114 a0002c0006t0004g0026 a0002c0006t0004g0075 a0002c0006t0004g0113 a0002c0006t0004g0181 a0003c0003t0002g0111 a0003c0003t0002g0115 a0003c0003t0002g0118 a0003c0003t0002g0119 a0004c0002t0002g0125 a0004c0002t0002g0137 a0009c0016t0007g0116 a0009c0016t0007g0121 a0014c0031t0004g0122	17	226	0.0752	-40	c.98- others(57): Show c.98-55874_98-55835delTAGGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGAGATTA		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
RORA_chr15_60483284_61234302	60597593	TACACATA others(33): Show TACACATATATATATATATATATATACATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02451.hp1 HG02647.hp2 others(4): Show HG01257.hp1 HG02451.hp1 HG02647.hp2 HG02965.hp1 HG03139.hp1 HG03491.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0003t0029 a0001c0005t0025 a0001c0006t0004	a0001c0001t0001g0054 a0001c0001t0006g0052 a0001c0001t0012g0034 others(4): Show a0001c0001t0001g0054 a0001c0001t0006g0052 a0001c0001t0012g0034 a0001c0001t0016g0051 a0001c0003t0029g0070 a0001c0005t0025g0100 a0001c0006t0004g0078	7	118	0.0593	-40	c.197 others(59): Show c.197-65782_197-65743delGTATATATATGTATGTATATATATAT ATATATATATGTGT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RORA_chr15_60483284_61234302	61120314	ATCTGATA others(33): Show ATCTGATATGCAAGCAGAGCTGAAGACCATTGTTCCAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0002 a0001c0001t0052g0002	1	118	0.0085	-40	c.166 others(61): Show c.166+108699_166+108738delCCTTTGGAACAATGGTCTTCAGCT CTGCTTGCATATCAGA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(33): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03831.hp2 HG01243.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0066 a0001c0001t0001 a0001c0001t0066	a0001c0001t0001g0207 a0001c0001t0066g0181 a0001c0001t0001g0207 a0001c0001t0066g0181	2	226	0.0089	-40	c.7+5 others(55): Show c.7+51556_7+51595delGGGAGGGAGGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(33): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00609.hp2 others(19): Show HG00140.hp2 HG00597.hp2 HG00609.hp2 HG01109.hp2 HG01256.hp2 HG01496.hp1 HG01884.hp1 HG01981.hp1 HG02155.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02965.hp1 HG03486.hp2 HG04184.hp2 NA18906.hp1 NA19062.hp2 NA19068.hp1 NA19082.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0050 a0001c0001t0056 a0001c0001t0064 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0060	a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0134 others(19): Show a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0003g0152 a0001c0001t0006g0083 a0001c0001t0011g0178 a0001c0001t0014g0018 a0001c0001t0014g0019 a0001c0001t0014g0020 a0001c0001t0050g0145 a0001c0001t0056g0221 a0001c0001t0064g0100 a0001c0002t0001g0169 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0060g0015	22	226	0.0974	-40	c.7+5 others(55): Show c.7+51560_7+51599delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RPF2_chr6_110977038_111033263	111017670	ACACTCCT others(33): Show ACACTCCTCACTTCCTAGACGGGATGGCGGCCGGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02615.hp2 others(2): Show HG02109.hp2 HG02257.hp1 HG02615.hp2 HG02717.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0004g0142 others(2): Show a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0021g0026	5	360	0.0139	-40	c.596 others(57): Show c.596+1816_596+1855delACTCCTCACTTCCTAGACGGGATGGCGG CCGGGAAGAGGC		RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
RPP25_chr15_74949418_74961772	74961701	GGTCAGAG others(33): Show GGTCAGAGGCCTCTGTTTCTCCACTGGTCTGATCATGACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(126): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02698.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0002t0001g0000	129	422	0.3057	-40	c.-51 others(51): Show c.-5158_-5119delAGGTCATGATCAGACCAGTGGAGAAACAGAGGCC TCTGAC		RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding					4930		chr15	TogoVar
RPS6KA5_chr14_90842861_91065641	91044355	GAAAGAAA others(33): Show GAAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0140 a0001c0001t0051g0140	1	306	0.0033	-40	c.103 others(59): Show c.103+15937_103+15976delTTCCTTCTTTCTTTCTTTCCTTCTTT CTTTCTCTTTCTTT		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16						chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84191563	TATATATA others(33): Show TATATATATATCCATATATATATATATCCATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01258.hp1 HG01981.hp1 HG00438.hp1 HG01258.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0167 a0001c0001t0002g0218 a0001c0001t0036g0025 a0001c0001t0002g0167 a0001c0001t0002g0218 a0001c0001t0036g0025	3	272	0.0110	-40	c.-37 others(51): Show c.-3704_-3665delGGATATATATATGGATATATATATATATGGATAT ATATAT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding					3365		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191701	TATATATA others(33): Show TATATATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0013 a0001c0001t0033g0013	1	272	0.0037	-40	c.-38 others(51): Show c.-3842_-3803delGGATATATATATATGGATATATATATATGGATAT ATATAT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding					3503		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191923	TATATATA others(33): Show TATATATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02698.hp1 HG02615.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0110 a0001c0001t0087 a0001c0001t0110	a0001c0001t0087g0082 a0001c0001t0110g0257 a0001c0001t0087g0082 a0001c0001t0110g0257	2	272	0.0074	-40	c.-40 others(51): Show c.-4064_-4025delGGATATATATATATGGATATATATATATGGATAT ATATAT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding					3725		chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02129.hp1 HG02717.hp2 others(4): Show HG01074.hp1 HG02129.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 NA18960.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0007 a0003c0003 others(1): Show a0001c0001 a0001c0007 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0007t0003 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0003 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0023 a0001c0001t0004g0011 a0001c0001t0004g0015 others(4): Show a0001c0001t0001g0023 a0001c0001t0004g0011 a0001c0001t0004g0015 a0001c0007t0003g0276 a0003c0003t0001g0214 a0003c0003t0001g0327 a0005c0006t0001g0210	7	330	0.0212	-40	c.472 others(57): Show c.472+2050_472+2089delATATATATATATATATATATATATATAT ATATATATATAT		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS7_chr2_3570260_3585920	3585472	GCTGTGCT others(33): Show GCTGTGCTCCAGATCTCATGCCTGTGCTCCAGATCTCATGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20905.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	2	430	0.0047	-40	c.45 others(51): Show c.4591_*4630delCTGTGCTCCAGATCTCATGCCTGTGCTCCAGATC TCATGC		RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding					4553		chr2	TogoVar
RPS7_chr2_3570260_3585920	3585482	AGATCTCA others(33): Show AGATCTCATGCCTGTGCTCCAGATCTCATGCCTGTGCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(18): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG03209.hp2 HG03540.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025	21	430	0.0488	-40	c.46 others(51): Show c.4601_*4640delGATCTCATGCCTGTGCTCCAGATCTCATGCCTGT GCTCCG		RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding					4563		chr2	TogoVar
RPS7_chr2_3570260_3585920	3585502	AGATCTCA others(33): Show AGATCTCATGCCTGTGCTCCGGATCTCATGCCTGTGCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01109.hp2 others(14): Show HG00609.hp2 HG01070.hp1 HG01109.hp2 HG01516.hp2 HG01978.hp1 HG02280.hp2 HG02559.hp2 HG02683.hp2 HG02922.hp1 HG03225.hp2 HG03491.hp1 HG03710.hp1 HG03831.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0002g0006 a0001c0001t0002g0049 a0001c0003t0001g0040	17	430	0.0395	-40	c.46 others(51): Show c.4621_*4660delGATCTCATGCCTGTGCTCCGGATCTCATGCCTGT GCTCCG		RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding					4583		chr2	TogoVar
RPTOR_chr17_80539838_80971368	80591202	ATCTCCTC others(33): Show ATCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00735.hp1 others(13): Show HG00099.hp2 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG01516.hp1 HG02055.hp2 HG02273.hp2 HG02970.hp2 HG03139.hp1 HG03831.hp1 HG03834.hp2 NA18906.hp1 NA19088.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0008 a0001c0018 others(11): Show a0001c0003 a0001c0008 a0001c0018 a0001c0025 a0001c0030 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0051 a0001c0052 a0005c0092	a0001c0003t0004 a0001c0008t0027 a0001c0018t0016 others(12): Show a0001c0003t0004 a0001c0008t0027 a0001c0018t0016 a0001c0025t0051 a0001c0025t0052 a0001c0030t0003 a0001c0038t0007 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0051t0060 a0001c0052t0003 a0005c0092t0012	a0001c0003t0004g0119 a0001c0008t0027g0143 a0001c0018t0016g0120 others(13): Show a0001c0003t0004g0119 a0001c0008t0027g0143 a0001c0018t0016g0120 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0038t0007g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0051t0060g0116 a0001c0052t0003g0149 a0005c0092t0012g0163	16	196	0.0816	-40	c.163 others(59): Show c.163-34449_163-34410delCTCTCCTCCCCTCTCCTCCCCTCTCC TCCCCTCTCCTCCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAS_chr19_49630292_49645143	49643051	CTTGTGGC others(33): Show CTTGTGGCGAATAATAATACGGAAAGAGAATGAGGAAATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	414	0.0024	-40	c.-29 others(51): Show c.-2993_-2954delAAATTTCCTCATTCTCTTTCCGTATTATTATTCG CCACAA		RRAS	ENSG00000126458.4	transcript	ENST00000246792.4	protein_coding					2909		chr19	TogoVar
RRP7A_chr22_42503344_42524796	42519550	TCGGGACC others(33): Show TCGGGACCCCGGAGCCTCAAGACCTGCGGAGCCTGGGGCCA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0084 a0004c0005t0084	a0004c0005t0084g0053 a0004c0005t0084g0053	1	388	0.0026	-40	c.73+ others(53): Show c.73+124_73+163delTGGCCCCAGGCTCCGCAGGTCTTGAGGCTCCG GGGTCCCG		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	1/6						chr22	TogoVar
RSF1_chr11_77655009_77825722	77723368	GGCTGGGA others(33): Show GGCTGGGATCACTTGAGCCCAAGAGTTCTAAGCTGCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	352	0.0028	-40	c.733 others(57): Show c.733+2137_733+2176delTCACTGCAGCTTAGAACTCTTGGGCTCA AGTGATCCCAGC		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	5/15						chr11	TogoVar
RSKR_chr17_28602963_28619185	28604481	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGACGGGGCAGTTGCCGGGCGGAGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-40	c.59 others(51): Show c.5957_*5996delACCCTCCGCCCGGCAACTGCCCCGTCTGAGAAGT GAGGAG		RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding					3481		chr17	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp2 HG01884.hp1 others(5): Show HG01071.hp2 HG01109.hp2 HG01884.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03471.hp1 HG03490.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0002t0001 a0005c0005t0001 a0001c0001t0001 a0001c0002t0001 a0005c0005t0001	a0001c0001t0001g0151 a0001c0001t0001g0171 a0001c0001t0001g0226 others(5): Show a0001c0001t0001g0151 a0001c0001t0001g0171 a0001c0001t0001g0226 a0001c0001t0001g0257 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0002t0001g0015 a0005c0005t0001g0299	8	314	0.0255	-40	c.421 others(57): Show c.421+3927_421+3966delCTTTCTTTCTTTCTTCCTTTCTTTCTTT CTTTCTTTCTTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPRY1_chr16_57181329_57245469	57201407	TGGCAGAG others(33): Show TGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01261.hp2 others(2): Show HG01074.hp1 HG01175.hp1 HG01261.hp2 HG01515.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0003t0007g0018	5	358	0.0140	-40	c.-15 others(59): Show c.-155-3076_-155-3037delCCTAGATGGGATGGCGGCCGGGCAGA GACGCTCCTCACTT		RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
RSU1_chr10_16585611_16822424	16645985	CATATATG others(33): Show CATATATGTGTATATATATGTGTATATACATATATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG06807.hp1 HG01258.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0058 a0001c0002t0003g0174 a0001c0002t0002g0058 a0001c0002t0003g0174	2	190	0.0105	-40	c.731 others(59): Show c.731+48998_731+49037delATACACATATATGTATATACACATAT ATATACACATATAT		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8						chr10	TogoVar
RTL4_chrX_112078016_112462514	112390106	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18952.hp1 HG02630.hp2 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0094 a0001c0002t0002g0032 a0001c0002t0002g0094	2	134	0.0149	-40	c.-28 others(61): Show c.-284-40993_-284-40954delATATATATATATATATATATATAT ATATATATATATATAT		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749280	ATATATAT others(33): Show ATATATATCTATATATATCTATATATATCTATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	172	0.0058	-40	c.242 others(57): Show c.242-2839_242-2800delGATATATATATAGATATATATAGATATA TATAGATATATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RWDD2B_chr21_28999384_29024349	29011401	CGTCTGAG others(33): Show CGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0018 a0003c0006t0020 a0001c0001t0018 a0003c0006t0020	a0001c0001t0018g0168 a0003c0006t0020g0169 a0001c0001t0018g0168 a0003c0006t0020g0169	2	438	0.0046	-40	c.68- others(55): Show c.68-2820_68-2781delCCAGCGGCTGCCGGGCGGAGGGGCTCCTCA CTTCTCAGAC		RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4						chr21	TogoVar
RYK_chr3_134152133_134255859	134157559	ATAAGTAT others(33): Show ATAAGTATTTTTAAAAAAATTTTTTTTTCCTCTAGCTTTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0303 a0002c0002t0010g0303	1	376	0.0027	-40	c.55 others(49): Show c.554_*593delGAAAAGCTAGAGGAAAAAAAAATTTTTTTAAAAATA CTTA		RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	15/15				554		chr3	TogoVar
RYR2_chr1_237037184_237838988	237117671	CCTTCTCT others(33): Show CCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02280.hp2 HG01981.hp2 HG02280.hp2	a0001 a0001	a0001c0010 a0001c0032 a0001c0010 a0001c0032	a0001c0010t0004 a0001c0032t0005 a0001c0010t0004 a0001c0032t0005	a0001c0010t0004g0097 a0001c0032t0005g0098 a0001c0010t0004g0097 a0001c0032t0005g0098	2	100	0.0200	-40	c.48+ others(57): Show c.48+75150_48+75189delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
S100Z_chr5_76845014_76926650	76906968	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02630.hp1 others(6): Show HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02897.hp1 HG02965.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007	a0001c0001t0001g0153 a0001c0001t0003g0041 a0001c0001t0016g0145 others(6): Show a0001c0001t0001g0153 a0001c0001t0003g0041 a0001c0001t0016g0145 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0003g0073 a0002c0002t0006g0210 a0002c0002t0007g0077 a0002c0002t0007g0078	9	348	0.0259	-40	c.3- others(57): Show c.3-13747_*3-13708delGTGTGTGTATATATATATATATATATAT ATATATATATAT		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR4_chr19_3173769_3185332	3178000	CTTCTGCA others(33): Show CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03540.hp1 others(1): Show HG01515.hp2 HG01517.hp2 HG03540.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	418	0.0096	-40	c.-79 others(49): Show c.-792_-753delTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCT		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					768		chr19	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp1 others(53): Show HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp2 HG01358.hp1 HG02055.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18977.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19056.hp2 NA19065.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0003t0002 a0001c0003t0011	a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0130 others(53): Show a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0156 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0010g0002 a0001c0001t0015g0152 a0001c0001t0016g0155 a0001c0002t0001g0066 a0001c0002t0001g0082 a0001c0002t0001g0099 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0121 a0001c0002t0001g0128 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0005g0081 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0148 a0001c0002t0008g0129 a0001c0002t0009g0150 a0001c0002t0013g0004 a0001c0002t0014g0097 a0001c0003t0002g0111 a0001c0003t0002g0172 a0001c0003t0011g0001	56	188	0.2979	-40	c.13+ others(57): Show c.13+15999_13+16038delATATATATATATATATATATATATATAT ATATATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3						chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54669901	TAAGTGTA others(33): Show TAAGTGTATGCTGCGTTTTGAGGGATTCCCTTCTGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	262	0.0038	-40	c.197 others(59): Show c.197-32160_197-32121delAAGTGTATGCTGCGTTTTGAGGGATT CCCTTCTGCCCCCC		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12						chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(33): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	262	0.0038	-40	c.197 others(59): Show c.197-23585_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT		SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01081.hp1 others(8): Show HG00140.hp1 HG00639.hp1 HG01081.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG04199.hp2 NA18993.hp2 NA18999.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0003c0011 a0004c0008	a0001c0001t0002 a0001c0001t0010 a0001c0001t0027 others(8): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0027 a0001c0003t0012 a0001c0007t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0004t0004 a0003c0011t0001 a0004c0008t0001	a0001c0001t0002g0092 a0001c0001t0010g0143 a0001c0001t0027g0235 others(8): Show a0001c0001t0002g0092 a0001c0001t0010g0143 a0001c0001t0027g0235 a0001c0003t0012g0094 a0001c0007t0005g0313 a0002c0002t0003g0041 a0002c0002t0004g0047 a0002c0002t0008g0268 a0002c0004t0004g0126 a0003c0011t0001g0059 a0004c0008t0001g0245	11	322	0.0342	-40	c.157 others(57): Show c.157-2481_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421134	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00544.hp1 HG00597.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0174 a0002c0002t0001g0152 a0001c0001t0002g0174 a0002c0002t0001g0152	2	322	0.0062	-40	c.286 others(59): Show c.286-19046_286-19007delGAAGGAAGGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 3176 hits)