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
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	288	0.0035	-39	c.925 others(58): Show c.9253-3554_9253-3516delAAAAAAAAAGTCATAGTCTGTTAAAA AAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RGS17_chr6_152999459_153136282	153054053	ATATAATA others(32): Show ATATAATATATATACATATATATATACACACAATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	338	0.0030	-39	c.-25 others(58): Show c.-25-10049_-25-10011delAAAAATATTGTGTGTATATATATATG TATATATATTATA	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS22_chr8_99955936_100111049	100098847	TTATTTTA others(32): Show TTATTTTATTATTTTATTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(85): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18946.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18963.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0011 a0015 a0016	a0001c0001 a0001c0003 a0003c0005 others(5): Show a0001c0001 a0001c0003 a0003c0005 a0004c0008 a0007c0010 a0011c0016 a0015c0017 a0016c0025	a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 a0004c0008t0001 a0007c0010t0001 a0011c0016t0001 a0015c0017t0001 a0016c0025t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0047 others(85): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0283 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0003t0001g0005 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0003c0005t0001g0068 a0004c0008t0001g0173 a0004c0008t0001g0189 a0004c0008t0001g0191 a0007c0010t0001g0171 a0011c0016t0001g0132 a0015c0017t0001g0046 a0016c0025t0001g0307	88	310	0.2839	-39	c.55- others(54): Show c.55-5377_55-5339delTAAAATAAAATAAAATAAAATAAATAAAAT AATAAAATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	2/27			chr8	TogoVar
RGS7BP_chr5_64501015_64617319	64605986	CATATATA others(32): Show CATATATATATGCTATATATATGTATATCTGGATACATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG03098.hp1 HG01109.hp1 HG01891.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0007 a0001c0001t0008g0257 a0001c0001t0021g0010 a0001c0001t0008g0007 a0001c0001t0008g0257 a0001c0001t0021g0010	3	280	0.0107	-39	c.683 others(56): Show c.683-3164_683-3126delGCTATATATATGTATATCTGGATACATA TATATATATAT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RHBDD1_chr2_226831054_227004210	226997032	ACCATGGA others(32): Show ACCATGGAGTTTTGTGTCCAAATCCAATCTGAATTTACCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0107 a0001c0001t0017g0107	1	264	0.0038	-39	c.15 others(50): Show c.1511_*1549delCCATGGAGTTTTGTGTCCAAATCCAATCTGAATT TACCT	RHBDD1	ENSG00000144468.17	transcript	ENST00000392062.7	protein_coding	9/9	1511		chr2	TogoVar
RHPN1_chr8_143363876_143389221	143373069	CGTGGGTT others(32): Show CGTGGGTTCCAGGGGACGGTGCGGGGGCTTGGGGGATGGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(29): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0006c0013t0007	a0001c0001t0005g0016 a0001c0001t0005g0032 a0001c0001t0005g0033 others(17): Show a0001c0001t0005g0016 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0084 a0001c0001t0007g0013 a0001c0001t0007g0019 a0001c0001t0007g0046 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0008g0117 a0001c0001t0020g0123 a0006c0013t0007g0127	32	426	0.0751	-39	c.61- others(54): Show c.61-2463_61-2425delCGGGGGCTTGGGGGATGGTGTGGGTTCCAG GGGACGGTG	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373675	TGGGGATG others(32): Show TGGGGATGGCGCGGGTTCCAGGGGACGGGGCGGGGATTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp1 others(31): Show HG00140.hp1 HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG02165.hp1 HG02698.hp2 HG03540.hp2 HG03688.hp1 NA18949.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19068.hp1 NA19089.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 others(1): Show a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 a0001c0004t0006	a0001c0002t0006g0006 a0001c0002t0006g0047 a0001c0002t0006g0048 others(14): Show a0001c0002t0006g0006 a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 a0001c0002t0006g0132 a0001c0002t0006g0133 a0001c0002t0006g0135 a0001c0002t0006g0136 a0001c0002t0006g0137 a0001c0002t0006g0138 a0001c0002t0006g0139 a0001c0002t0006g0140 a0001c0002t0006g0141 a0001c0002t0013g0028 a0001c0002t0013g0134 a0001c0002t0019g0006 a0001c0004t0006g0006	34	426	0.0798	-39	c.61- others(54): Show c.61-1867_61-1829delCGGGTTCCAGGGGACGGGGCGGGGATTTGG GGGATGGCG	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373686	CGGGTTCC others(32): Show CGGGTTCCAGGGGACGGGGCGGGGATTTGGGGGATGGCGT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0028 a0001c0016t0028	a0001c0016t0028g0113 a0001c0016t0028g0113	1	426	0.0024	-39	c.61- others(54): Show c.61-1850_61-1812delGGCGGGGATTTGGGGGATGGCGTGGGTTCC AGGGGACGG	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMBP2_chr12_130391133_130721299	130695981	AGTAAGAA others(32): Show AGTAAGAAATTGCAAGTATATGATTTTGGACAGATGCATT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0148	1	180	0.0056	-39	c.-35 others(60): Show c.-352+20202_-352+20240delAATGCATCTGTCCAAAATCATATA CTTGCAATTTCTTAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21379157	AGTTTTGA others(32): Show AGTTTTGACCTGCTCCTTTTCGTTTTCCTTTTTCTTTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	118	0.0085	-39	c.-47 others(50): Show c.-4701_-4663delGTTTTGACCTGCTCCTTTTCGTTTTCCTTTTTCT TTCTT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4593		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21392777	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	118	0.0085	-39	c.40 others(50): Show c.4000_*4038delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAA	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		3300		chr22	TogoVar
RIN2_chr20_19753258_20007456	19844590	GCTGCTTC others(32): Show GCTGCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp1 NA19010.hp1 HG01109.hp1 HG03209.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0003 a0002c0004t0005 a0001c0001t0002 a0001c0002t0003 a0002c0004t0005	a0001c0001t0002g0239 a0001c0002t0003g0183 a0002c0004t0005g0173 a0001c0001t0002g0239 a0001c0002t0003g0183 a0002c0004t0005g0173	3	276	0.0109	-39	c.-37 others(58): Show c.-37+44846_-37+44884delGCTTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50664770	CTGTGTCT others(32): Show CTGTGTCTGCCATGAAGTGGGAAATCGGTGGGGGAAGAAA	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0076 a0006c0013t0001g0076	1	280	0.0036	-39	c.3+2 others(54): Show c.3+26317_3+26355delTTTCTTCCCCCACCGATTTCCCACTTCATG GCAGACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RMND1_chr6_151399762_151457126	151450052	GCCTCTGC others(32): Show GCCTCTGCCTGGCCCCCCATCGTCTGGGACGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	392	0.0026	-39	c.-15 others(56): Show c.-15+1925_-15+1963delGGCTCCTCACGTCCCAGACGATGGGGGG CCAGGCAGAGG	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RNASE1_chr14_20796228_20807844	20797235	AACTGCTG others(32): Show AACTGCTGAACAGGTTTGTAACCTAGGAGCAATAGGTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02145.hp2 others(1): Show HG01109.hp2 HG02145.hp1 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	452	0.0089	-39	c.43 others(50): Show c.4324_*4362delATAACCTATTGCTCCTAGGTTACAAACCTGTTCA GCAGT	RNASE1	ENSG00000129538.14	transcript	ENST00000397967.5	protein_coding		3992		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166930767	GCACACAC others(32): Show GCACACACATGCACACATAGCACATGCCCACATGCATGTA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20805.hp2 HG02602.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0272 a0001c0001t0002g0250 a0001c0001t0002g0272	2	346	0.0058	-39	c.567 others(54): Show c.567+238_567+276delTACATGCATGTGGGCATGTGCTATGTGTGC ATGTGTGTG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	8/8			chr6	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	372	0.0027	-39	c.554 others(54): Show c.554+365_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF126_chr19_642526_668214	646704	GAGGAGGG others(32): Show GAGGAGGGCCCGCCACGCACGACCCCAGAGGGCGGCCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01109.hp2 others(24): Show HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01496.hp1 HG01943.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0264 a0001c0001t0001g0331 a0001c0001t0001g0340 others(22): Show a0001c0001t0001g0264 a0001c0001t0001g0331 a0001c0001t0001g0340 a0001c0001t0001g0361 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0002t0001g0001 a0001c0002t0001g0020 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0341 a0001c0002t0001g0344 a0001c0002t0001g0393 a0001c0002t0001g0394 a0001c0002t0001g0405	27	434	0.0622	-39	c.13 others(50): Show c.1385_*1423delGGTGGCCGCCCTCTGGGGTCGTGCGTGGCGGGCC CTCCT	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		821		chr19	TogoVar
RNF126_chr19_642526_668214	646722	ACGACCCC others(32): Show ACGACCCCAGAGGGCGGCCACCAGGAGGGCCCGCCACGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01192.hp1 HG01891.hp1 others(11): Show HG00558.hp2 HG01192.hp1 HG01891.hp1 HG01978.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1 NA18961.hp2 NA19043.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0005c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0265 a0001c0001t0001g0391 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0265 a0001c0001t0001g0391 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0005g0383 a0001c0002t0001g0392 a0001c0002t0001g0395 a0001c0002t0001g0404 a0001c0002t0002g0039 a0001c0002t0003g0069 a0005c0010t0001g0219	14	434	0.0323	-39	c.13 others(50): Show c.1367_*1405delCGCGTGGCGGGCCCTCCTGGTGGCCGCCCTCTGG GGTCG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		803		chr19	TogoVar
RNF180_chr5_64160843_64377869	64225489	CCGTCTGG others(32): Show CCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	250	0.0040	-39	c.122 others(58): Show c.1227+8122_1227+8160delCGGCCGCCCTTCGTCTGGGAGGTGAG GAGCGCCTCTGCC	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF213_chr17_80255852_80403794	80314082	GAGGTGAT others(32): Show GAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02895.hp2 HG02559.hp1 HG02615.hp2 HG02895.hp2	a0005 a0036 a0071 a0005 a0036 a0071	a0005c0105 a0036c0144 a0071c0131 a0005c0105 a0036c0144 a0071c0131	a0005c0105t0021 a0036c0144t0003 a0071c0131t0006 a0005c0105t0021 a0036c0144t0003 a0071c0131t0006	a0005c0105t0021g0270 a0036c0144t0003g0173 a0071c0131t0006g0010 a0005c0105t0021g0270 a0036c0144t0003g0173 a0071c0131t0006g0010	3	292	0.0103	-39	c.281 others(56): Show c.2811+954_2811+992delAAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314333	GGTGGTGG others(32): Show GGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG02630.hp2 others(3): Show HG01361.hp1 HG02257.hp1 HG02630.hp2 HG02886.hp2 HG02965.hp1 HG04228.hp1	a0013 a0026 a0030 others(3): Show a0013 a0026 a0030 a0092 a0097 a0103	a0013c0012 a0026c0080 a0030c0112 others(3): Show a0013c0012 a0026c0080 a0030c0112 a0092c0117 a0097c0042 a0103c0120	a0013c0012t0056 a0026c0080t0077 a0030c0112t0079 others(3): Show a0013c0012t0056 a0026c0080t0077 a0030c0112t0079 a0092c0117t0026 a0097c0042t0008 a0103c0120t0050	a0013c0012t0056g0192 a0026c0080t0077g0290 a0030c0112t0079g0276 others(3): Show a0013c0012t0056g0192 a0026c0080t0077g0290 a0030c0112t0079g0276 a0092c0117t0026g0166 a0097c0042t0008g0208 a0103c0120t0050g0249	6	292	0.0206	-39	c.281 others(58): Show c.2811+1171_2811+1209delTGGTGGTGGTGGAGGTACTGGAGGTG ATGGCGGTCGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314721	GTAATGGA others(32): Show GTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp2 HG01099.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0115 a0001c0001t0001g0126 a0001c0001t0002g0115	2	292	0.0069	-39	c.281 others(58): Show c.2811+1556_2811+1594delAATGGAGGTGATGGTGGTGATGGTGA TGGTGGAGGTACT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314976	GTGGAGGT others(32): Show GTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp2 HG02559.hp2 NA19240.hp2	a0093 a0101 a0093 a0101	a0093c0106 a0101c0111 a0093c0106 a0101c0111	a0093c0106t0018 a0101c0111t0027 a0093c0106t0018 a0101c0111t0027	a0093c0106t0018g0032 a0101c0111t0027g0082 a0093c0106t0018g0032 a0101c0111t0027g0082	2	292	0.0069	-39	c.281 others(58): Show c.2811+1848_2811+1886delCTGGAGGTGATGGTGGTGGTGAAGGT GATGGTGGAGGTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315015	CTGGAGGT others(32): Show CTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	292	0.0034	-39	c.281 others(58): Show c.2811+1904_2811+1942delGGTGAAGGTGATGGTGGAGGTAATGG AGGTGATGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNFT2_chr12_116733315_116858631	116788968	GGATGGAT others(32): Show GGATGGATGGATGGATGGGTAGATAAATGAGAGGAGAGTA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	268	0.0037	-39	c.882 others(56): Show c.882+9634_882+9672delATGGGTAGATAAATGAGAGGAGAGTAGA TGGATGGATGG	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RORA_chr15_60483284_61234302	60597554	ATATATAT others(32): Show ATATATATATATATATATATACACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02897.hp2 HG02257.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0008 a0001c0001t0001 a0001c0004t0008	a0001c0001t0001g0092 a0001c0004t0008g0095 a0001c0001t0001g0092 a0001c0004t0008g0095	2	118	0.0170	-39	c.197 others(58): Show c.197-65742_197-65704delATATATATATATATATGTGTATATAT ATATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPEL1_chr10_103240887_103253016	103249797	AAATTTAT others(32): Show AAATTTATTTGAGTAATAGAAACTATGGATTACTAAACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	375	0.0027	-39	c.31 others(50): Show c.3115_*3153delAATTTATTTGAGTAATAGAAACTATGGATTACTA AACAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		1782		chr10	TogoVar
RPH3AL_chr17_207389_357807	233861	AGGGAGCG others(32): Show AGGGAGCGGCTACTTCCCCTGACCAACTTTCCCCCAAGCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02698.hp2 HG02723.hp1 others(2): Show HG01243.hp2 HG02698.hp2 HG02723.hp1 HG03017.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0005 a0001c0001 a0001c0015 a0002c0005	a0001c0001t0003 a0001c0001t0022 a0001c0001t0027 others(2): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0027 a0001c0015t0007 a0002c0005t0005	a0001c0001t0003g0084 a0001c0001t0022g0071 a0001c0001t0027g0118 others(2): Show a0001c0001t0003g0084 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0015t0007g0026 a0002c0005t0005g0035	5	133	0.0376	-39	c.613 others(58): Show c.613+13211_613+13249delCGCTTGGGGGAAAGTTGGTCAGGGGA AGTAGCCGCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	233876	CCCCTGAC others(32): Show CCCCTGACCAACTTTCCCCCAAGCGGGGAGCGGCTACTTA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	-39	c.613 others(58): Show c.613+13196_613+13234delTAAGTAGCCGCTCCCCGCTTGGGGGA AAGTTGGTCAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234270	AGGGAGCG others(32): Show AGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02976.hp2 HG01167.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0029 a0001c0001t0009 a0001c0002t0029	a0001c0001t0009g0094 a0001c0002t0029g0103 a0001c0001t0009g0094 a0001c0002t0029g0103	2	133	0.0150	-39	c.613 others(58): Show c.613+12802_613+12840delCGCTTGGGGGAAAGTTGGTCAGGGTA AGTAGCCGCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355131	TTTCCTTT others(32): Show TTTCCTTTTTGAGAATAACTCTTCAGGTCAAAGTAGTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	-39	c.-26 others(50): Show c.-2671_-2633delGTGACTACTTTGACCTGAAGAGTTATTCTCAAAA AGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		2325		chr17	TogoVar
RPL11_chr1_23686806_23701835	23688781	AGGAGCGT others(32): Show AGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02280.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02970.hp2 HG03516.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	8	388	0.0206	-39	c.-30 others(50): Show c.-3042_-3004delGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGA TGTGG	RPL11	ENSG00000142676.14	transcript	ENST00000643754.2	protein_coding		3024		chr1	TogoVar
RPL28_chr19_55380932_55397085	55396480	CCCCTCCC others(32): Show CCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCTCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02897.hp2 HG02717.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	2	314	0.0064	-39	c.81 others(50): Show c.8149_*8187delCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCT CCCCA	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding		4396		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80634611	GTACTGTG others(32): Show GTACTGTGTGCGTGTGCGTACTGTGTGTGTGCATACTGTA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0015 a0001c0017t0015	a0001c0017t0015g0082 a0001c0017t0015g0082	1	196	0.0051	-39	c.265 others(56): Show c.265+8820_265+8858delACTGTGTGCGTGTGCGTACTGTGTGTGT GCATACTGTAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17681283	CGGTGGCC others(32): Show CGGTGGCCCCGGCCCCGCCGCCAGGGGGAGCAGGGAGCCG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	350	0.0029	-39	c.-99 others(54): Show c.-99+706_-99+744delCGGCTCCCTGCTCCCCCTGGCGGCGGGGCC GGGGCCACC	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	1/24			chr20	TogoVar
RWDD3_chr1_95229210_95252225	95249849	TTGCTATT others(32): Show TTGCTATTGCACTATTGGAGACGTTGTAATAGCCTATATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(340): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(127): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0003g0007 a0001c0001t0003g0036 a0001c0001t0003g0067 a0001c0001t0003g0071 a0001c0005t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0004c0004t0001g0004 a0004c0004t0001g0008	343	430	0.7977	-39	c.29 others(50): Show c.2980_*3018delTGCTATTGCACTATTGGAGACGTTGTAATAGCCT ATATC	RWDD3	ENSG00000122481.17	transcript	ENST00000370202.5	protein_coding		2625		chr1	TogoVar
RXRA_chr9_134321455_134445585	134433484	AGGCCAAG others(32): Show AGGCCAAGGTGGCATTCACAGGGGGTCCCTGGGCCTTGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0062 a0001c0001t0039 a0001c0001t0062	a0001c0001t0039g0206 a0001c0001t0062g0156 a0001c0001t0039g0206 a0001c0001t0062g0156	2	232	0.0086	-39	c.113 others(56): Show c.1136-579_1136-541delGGGCCAAGGTGGCATTCACAGGGGGTCC CTGGGCCTTGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
S1PR4_chr19_3173769_3185332	3174534	GCCCTCAT others(32): Show GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-39	c.-42 others(50): Show c.-4258_-4220delCCCTCATGGGACGCCTGTGTTCTCATGGGACGCC TGTGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4234		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175322	GCCCTCAT others(32): Show GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-39	c.-34 others(50): Show c.-3470_-3432delCCCTCATGGGACGCCTGTGTTCTCATGGGACGCC TGTGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3446		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177550	CCTACCAG others(32): Show CCTACCAGCTTGTCCCTGGGGGTCTCTCTCCCTGGACCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-39	c.-12 others(50): Show c.-1242_-1204delCTACCAGCTTGTCCCTGGGGGTCTCTCTCCCTGG ACCTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1218		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177664	AGGCTCTC others(32): Show AGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(22): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG01070.hp1 HG01106.hp2 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02965.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18954.hp2 NA18978.hp1 NA18997.hp2 NA19011.hp2 NA19012.hp2 NA19064.hp2 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	25	418	0.0598	-39	c.-11 others(50): Show c.-1128_-1090delGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1104		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177778	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG01257.hp2 others(16): Show HG01106.hp1 HG01175.hp1 HG01257.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG02056.hp2 HG02809.hp1 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp2 HG04184.hp2 NA19240.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	19	418	0.0455	-39	c.-10 others(49): Show c.-1014_-976delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		990		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177856	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(35): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG01070.hp1 HG01106.hp2 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18954.hp2 NA18978.hp1 NA18997.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19064.hp2 NA19077.hp1 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0010 a0001c0001 a0001c0002 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0009c0010t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0009c0010t0001g0000	38	418	0.0909	-39	c.-93 others(48): Show c.-936_-898delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		912		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177934	CTCGGGCT others(32): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA21309.hp2 NA19074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	-39	c.-85 others(48): Show c.-858_-820delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		834		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	ATCGGGCT others(32): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02027.hp1 HG02273.hp2 others(7): Show HG00642.hp1 HG02027.hp1 HG02273.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 NA19010.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0000 a0009c0010t0001g0000 a0001c0001t0001g0000 a0009c0010t0001g0000	10	418	0.0239	-39	c.-74 others(48): Show c.-741_-703delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178129	CTCGGGCT others(32): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-39	c.-66 others(48): Show c.-663_-625delTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		639		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178208	TCGGGCTC others(32): Show TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02056.hp2 HG03209.hp2 HG01433.hp2 HG02056.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-39	c.-58 others(48): Show c.-584_-546delCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CAC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		560		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178233	CCTTCTGC others(32): Show CCTTCTGCAACGCACCGGGCTCTCTGGGCCTCAGTTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-39	c.-55 others(48): Show c.-559_-521delCTTCTGCAACGCACCGGGCTCTCTGGGCCTCAGTTT CCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		535		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178240	CAACGCAC others(32): Show CAACGCACCGGGCTCTCTGGGCCTCAGTTTCCTCTTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-39	c.-55 others(48): Show c.-552_-514delAACGCACCGGGCTCTCTGGGCCTCAGTTTCCTCTTC TGT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		528		chr19	TogoVar

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Search Results (Total: 1684 hits)