JoGo: Joint Open Genome and Omics Platform

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
NHLRC4_chr16_562005_574495	567469	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02622.hp2 HG02723.hp1 others(4): Show HG01884.hp2 HG02622.hp2 HG02723.hp1 HG02970.hp1 HG03130.hp1 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0005g0002 a0002c0002t0001g0002 a0001c0001t0001g0002 a0001c0001t0005g0002 a0002c0002t0001g0002	7	424	0.0165	0	c.-57 others(6): Show c.-577-2A>C		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding	1/1						chr16	TogoVar
NLRP5_chr19_55994726_56066810	56019729	CAGTAATT others(1026): Show CAGTAATTATTTTTGTAATTCCTTCTATCAACTAATATGTACATGAATAC CTGCCATTGAAGAATTGTGCTGGAATTACAGTGGTAAGAAAAACATGTCT TGCCTTCATGGCATTTTTTTTTTTTTGAGAAGGAGTCTCGCTGTGTCGCC CAAGCTGTAGTGCAGTGGCGGGATCTCAGCTCAGTGCAACCTCTGCCTCC CAGGTTCAAGCGATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGATTACA GGCACCTGCCACTGTGCCCGACTAATTTTTGTATTTTTAGTAGAGATGGG GTTTCACCATATTGGCCAAGCTGGTCTCGAACTCGTGACCTCGGCTGCCC ACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCG ACCTACCCCTCATTTTAATAACTTGTGCAAGTCTCTTCAAGGAGAAATGA GCCTAGGACCCTCACCCTCAAGCTTTGAATTAGTGCTCATTGTACCAGTG CACTCTGTCTTCTAGTTGAGCCGGTGGTTGTCATGTTTTCAACTGGCCAG AAAATAAATATGGCATGACTAAGCTTATCTTGGGGGTGTCTGACATCTCT GACTCGAATAATAAACACAAGTATGTTGGAATTCATTCTTTTGCAGAAAT TTCACAAGCTATGGAACAAGAAGGTGCCACAGCAGCAGAGACAGAAGAAC AAGGTGAGGAAAATAGATGTATTCCTTGGTTGCCCTCCTGGAAGAAAGTT GGGTGAAAGAAGTGTAAGTAGTTTAGATTTCAAGGGTATGTAGTTTAGAT TGCCTTTCTTCAATCTCATTTGTCTCTGGTGTCAACCCCTTCCCTTCAAG CTCTTGATCAGTACCATGGATAGAGCTACGCAAGTTCACTGTGATTATCT ACAGTCAGATACTATGAAGACAAAATTCTAAAGAACCCATAATTCTAGGG GACTCGAATCAATCACAACTTTGTTTGATGGATGTTAAACATATGGCCAA GAGTAGTCAAATGCTGTCTTCAAACTTAAGTGGT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show HG02809.hp2 HG03130.hp1 HG03486.hp2 HG03579.hp1	a0016 a0045 a0016 a0045	a0016c0097 a0016c0129 a0016c0130 others(1): Show a0016c0097 a0016c0129 a0016c0130 a0045c0131	a0016c0097t0001 a0016c0129t0001 a0016c0130t0003 others(1): Show a0016c0097t0001 a0016c0129t0001 a0016c0130t0003 a0045c0131t0001	a0016c0097t0001g0107 a0016c0129t0001g0100 a0016c0130t0003g0316 others(1): Show a0016c0097t0001g0107 a0016c0129t0001g0100 a0016c0130t0003g0316 a0045c0131t0001g0315	4	396	0.0101	-1033	c.622 others(15): Show c.622+438_679+437del		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937233	GTTTCAGC others(39): Show GTTTCAGCCCCAAGACCAAATAGCAGTTGGGGAAGACGGCTTCAAAC	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA18954.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0194 a0008c0008t0001g0194	1	404	0.0025	-46	c.118 others(55): Show c.118-6_157delTTTCAGCCCCAAGACCAAATAGCAGTTGGGGAAGAC GGCTTCAAAC	p.Pro others(4): Show p.Pro40fs	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/8		118/693	40/230			chr19	TogoVar
NOP14_chr4_2932936_2968406	2948409	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	422	0.0024	0	c.128 others(6): Show c.1283-1G>C		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	8/17						chr4	TogoVar
NOS3_chr7_150986017_151019588	150993751	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	382	0.0026	0	c.-51 others(5): Show c.-51-2A>G		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	1/26						chr7	TogoVar
NOS3_chr7_150986017_151019588	150993752	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	382	0.0026	0	c.-51 others(5): Show c.-51-1G>T		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	1/26						chr7	TogoVar
NOTUM_chr17_81947507_81966187	81958995	C C	CTCTTGGG others(38): Show CTCTTGGGATGTCACTAGAGGTGTAGCTTCTAGGACAGGATCTGTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	384	0.0026	45	c.473 others(54): Show c.473-1_473insCACAGATCCTGTCCTAGAAGCTACACCTCTAGTGAC ATCCCAAGA		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding	3/10						chr17	TogoVar
NOX5_chr15_69009695_69067762	69047828	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	2	396	0.0051	0	c.181 others(6): Show c.1818-2A>T		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	12/15						chr15	TogoVar
NPHP4_chr1_5857811_5997425	5875102	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp1 HG00735.hp2 HG00741.hp2 others(17): Show HG00609.hp1 HG00735.hp2 HG00741.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02559.hp2 HG02886.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 NA19074.hp2 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0001c0017 a0006c0012	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0001c0017t0001 a0006c0012t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0002t0001g0201 a0001c0015t0001g0012 a0001c0017t0001g0188 a0006c0012t0001g0069	20	208	0.0962	0	c.281 others(6): Show c.2818-2A>T		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	20/29						chr1	TogoVar
NPIPA1_chr16_14932443_14957056	14941811	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	253	0.0040	0	c.64- others(4): Show c.64-1G>T		NPIPA1	ENSG00000183426.17	transcript	ENST00000328085.10	protein_coding	1/7						chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11927872	ATTCTGAC others(36): Show ATTCTGACCTGTAGGGCCAAAGGAGGGAATGTTTTCACACATAT	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02886.hp1 HG02976.hp2 HG03017.hp2 others(7): Show HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0009 a0002c0019 a0001c0013 a0002c0009 a0002c0019	a0001c0013t0000 a0002c0009t0000 a0002c0019t0000 a0001c0013t0000 a0002c0009t0000 a0002c0019t0000	a0001c0013t0000g0046 a0001c0013t0000g0047 a0001c0013t0000g0048 others(5): Show a0001c0013t0000g0046 a0001c0013t0000g0047 a0001c0013t0000g0048 a0001c0013t0000g0049 a0002c0009t0000g0014 a0002c0009t0000g0341 a0002c0009t0000g0343 a0002c0019t0000g0342	10	414	0.0242	-43	c.688 others(53): Show c.688-36_694delATATGTGTGAAAACATTCCCTCCTTTGGCCCTACA GGTCAGAA	p.Val others(5): Show p.Val230fs	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	694/1194	688/1194	230/397			chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11933709	AGCCCTTG others(3): Show AGCCCTTGGTG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02135.hp1 HG02135.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0000 a0010c0030t0000	a0010c0030t0000g0313 a0010c0030t0000g0313	1	414	0.0024	-10	c.293 others(19): Show c.293-7_295delCACCAAGGGC	p.Gly others(17): Show p.Gly98_Leu99delinsVal	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	4/8	295/1194	293/1194	98/397			chr16	TogoVar
NPRL3_chr16_80386_143673	138304	AGAGGAGG others(25): Show AGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT	A A	splice_acceptor_variant others(2): Show splice_acceptor_variant 5_prime_UTR_variant intron_variant	HIGH	HG00323.hp1 HG00423.hp2 HG00597.hp2 others(132): Show HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0001c0011 others(3): Show a0001c0001 a0001c0005 a0001c0011 a0001c0014 a0002c0003 a0008c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0011t0005 a0001c0014t0021 a0002c0003t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0005g0004 a0001c0001t0005g0023 a0001c0001t0005g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0074 a0001c0001t0005g0077 a0001c0001t0011g0009 a0001c0001t0011g0034 a0001c0001t0012g0316 a0001c0001t0012g0317 a0001c0001t0013g0349 a0001c0001t0013g0350 a0001c0001t0018g0275 a0001c0001t0019g0015 a0001c0001t0020g0105 a0001c0001t0023g0348 a0001c0005t0001g0050 a0001c0005t0001g0063 a0001c0005t0001g0094 a0001c0011t0005g0083 a0001c0014t0021g0277 a0002c0003t0001g0098 a0008c0010t0001g0088	135	350	0.3857	-32	c.-67 others(41): Show c.-67-2_-38delAGGCCCCCTCCGCCTCCGGCTCCGTCCTCCTC		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/14				38		chr16	TogoVar
NR2C2_chr3_14942583_15054273	15034669	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0077 a0001c0001t0030g0077	1	308	0.0033	0	c.123 others(6): Show c.1233-1G>A		NR2C2	ENSG00000177463.16	transcript	ENST00000425241.6	protein_coding	10/13						chr3	TogoVar
NRAP_chr10_113583714_113669041	113653022	ATAGTCTT others(121): Show ATAGTCTTCTGTATATTCCTGTTGGTCAGAACCAATGTCAGCATGAGAAC TGAGATGATATTGAATGACAACTAAGAAAACCGCAATAAAACCAATGAAA CTAGATTCATAAAGTTCTTCGGAAATATT	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02451.hp2 HG03471.hp2 others(2): Show HG01891.hp2 HG02451.hp2 HG03471.hp2 HG03516.hp2 NA19043.hp1	a0021 a0021	a0021c0071 a0021c0072 a0021c0073 others(2): Show a0021c0071 a0021c0072 a0021c0073 a0021c0114 a0021c0115	a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 others(2): Show a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 a0021c0114t0004 a0021c0115t0004	a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 others(2): Show a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 a0021c0114t0004g0273 a0021c0115t0004g0274	5	398	0.0126	-128	c.466 others(11): Show c.466-111_482del	p.Glu others(5): Show p.Glu156fs	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	6/42	641/5613	466/5193	156/1730			chr10	TogoVar
NRK_chrX_105817539_105963610	105887094	ATTAAAAT others(1388): Show ATTAAAATAAAAACTTTTGTGCTTCAAAGGTCACTATCAAGACAGTGAGA AAACAATCCACAGTATGAGAGAAATTATTTGCAAGTTGTCTATCTGATAA GGCACTTGTATCTAGAATATATGAAGAGCTCTTACAATTCAGTAATAAAA TGACAACCCAGTTTTTAAAAGGACAAAGAATTTTGTATTAGACATTTCTT GAAGAACATATCGGCAATAGGCACAGGAAAAGATGCTCAACATCATTAGT CATCAGGGAATTGCAAATTAAAACCACAATGAGACACCACTTCACACCCA CTAGAATGGTTATAATAATAAAACAGAAAATAGCAAGTGTTGGTGATAGT GTAGAGAAAGTGGAACCCCTGCATACATTGCTCTTGGTAATGCAAAATGG TAAAGCCAATGTGGGAGACAGTCTGTCATTTCATCAAAACATTAAACATA GAGTTACTTGACATGACTGTTCATAGAAGCATTATTCATAATAGCTAAAT GGTAGAAATAGCCCAAACATCCCTCAATTGATGAATGGTAAACCAAAAGC AATGAAACATTGTTACATGCTACATATGGATGAACTTTGAAAAGAACTAG TCACAAAAGACCATGTTATATGATTTCATTTATATAAAATGTCCAGAACT GATAAATCTACTGAGACATAAAGTGGATTAGTGATTGCTTAGAGTTGGGG TGTGTGTGTGGCAGAATTGGGGGATGATAACTAAAGGATATGGGGTTTCC TTTTGGAGTGATAAAAATGTTCTAAAATTGATTGTGGTGATGATTGCACA ACTGTATAAATATACTAAAAACCATTGCATTTTGCACTTTAAATGGGTGA ATTTTATAGTATGTGAATTATATCTCAATAAAACTGTTACAAAAGAAACA ACAATATAATGACTCCACTCAGTGAAAATTTTATACAGTGGCCAGTGCCG CTGGTCCAGGGACCATACCTTAAGAACCACTGAACTAAACGATCTTCAGT TTACCCTTTTTATTCCCCCAGACTCCAGGTTAACCAGAGGTCTTCATTCA CTGACCATTTTAGTTGAGATTTTATTATAAATTGCTGTTGGATATAATTA GTTGCCATAGGATTCTCCTTCATTGATATACTGTACTTTAGGGACTTATA GTCATTGATTGCACAGTTTAGGAGCTTTGCTGTCTATTCTTATTCCATAG GATGAGGAAGAGGATCTCAGGACTGAACTCAACCTTCTGAGGAAGTACTC TTTCCACAAAAACATTGTGTCCTTCTATGGAGCATTTTTCAAGCTGAGTC CCCCTGGTCAGCGGCACCAACTTTGGGTATGTTTTTAATTACACTGTTCT TATTCTATAAGAATAAGTTTTACCCAAGGATGTATGTTTTCATGAG	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01981.hp1 HG01981.hp1	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0001 a0011c0006t0001	a0011c0006t0001g0117 a0011c0006t0001g0117	1	219	0.0046	-1395	c.253 others(15): Show c.253-1196_378+73del		NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	5/29					INFO_REALIGN_3_PRIME	chrX	TogoVar
NUDT13_chr10_73105455_73136823	73125116	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0075 a0004c0010t0001g0075	1	324	0.0031	0	c.466 others(5): Show c.466-2A>G		NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	5/8						chr10	TogoVar
NUDT13_chr10_73105455_73136823	73125117	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0075 a0004c0010t0001g0075	1	324	0.0031	0	c.466 others(5): Show c.466-1G>T		NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	5/8						chr10	TogoVar
NUDT18_chr8_22101878_22114419	22107897	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	400	0.0025	0	c.377 others(5): Show c.377-2A>C		NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding	2/2						chr8	TogoVar
NUP160_chr11_47773118_47853350	47819572	CTTCATCA others(2364): Show CTTCATCAATTCTATTAAAAACATTTTTTTTTAAATAAGAAAGAAAGAAA CATTTTTAGCAGAGCCTAGTTTTTATACAAGTTTGCTTACCATGTTTTAA TAATTATCTTCCTAAAATTGAAACTCATTGTTTCAGATCTCAAGCCCATA ATCTTTAATGTCATTTTAACACTAAGGCATCAAATACAAAGAATAACTAA CTTTTATTCTGCATTTATTATTTGCTAGATATTATGCTAGATGCAGTTTT AGACATTATTCATGTATGCCTTATAATTCTTTGAAGGATATAGTACTCCC ATTTCACAGATGTACACAGTGAGGCTGAGGGTATATCACAGCTAGTAAGT TGCACAACTAGGATTCCAACCCTGCTCCAACTCTGCAGCCTGTGCTTTCT GACTACTTTGCTCAAATGCCATCTACAAGGAGTGCTTTTTTTATCTTCCC AGGTATGGCCTGAGGTCAATCTGGAGGGCAATCATTCCCAGAATTCTACC TTAGGCTCTAGGGTTATCAGGGACCCAGAGGGTTCAATTAGTTCAGTGGT CTTCAAGCTCTGTCCCAAGGGAGCCTCTACAGATGTTTCAGGGGTTAGAC AAGTCTTTGCTTCAAAATGGTTTGTTTTTTATTTTTGGCCAAATTTAGCA GTGGAGGGCTGTATGCCAACTTTAGTGACACTAATGTTAAGTTCTGACAA TCCATTATCATGGGACCAGCCAAAAATTGTTTTGTAAAATGTATTTTTAA CTACCTAAGGCTTGCAAACTAATATCATCTACATTAAAAAATATTAGATA CCAAATATATCTAACATTAGGTACAATCAACATTAAATTGTGTTATAATT TTATACTCATAAAATACTACACATTCATAGCTCACTGAAGCCTGAACTCT GAGGCTCAAGCAATCCTCCTGCCTCAGTCTAATAGGGTGCATCGTGCCAC CACACCTGGCTAGTTTATTTTATTTATTTATATTTATTTATTTATTTTTG AGATGGAGTCTCACTTTGTCGCCTAGGCTGGAGTGAATGGCATGATCTTG GCTCACTGCAACCTCCGTCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGCACATACCACCACGCCCGGCTAATTT TTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTC AAACTTCCAACCTTGTGATCTGCCCACTTCAGCCTCCCAAAGTACTGGGA TTACAGGCATGAGCCACCGCACCTGGCCACTAGTTTATTTTTTATAGAGA CAAGGTCTTGCTATGTTGCCTGGACAGGTCTTGAACCATGGCCTCAGGCA ATCCTCCCACCTTAGCCTCACAAAGTGCTTGGATTACAGGTATGAGCCAC TGTGCCCAGCCCTGTTTTAAAATAAATTTGAGAAGCACTGCACTTGTCCA ATCTATTTCTCATCTCATGATGAGAAAATTGAAAACACAAAGGCTATAGT ATCCTAAGGAAGTTGCAGGAATCAGGAATAGTCTTAGCTTAGAAACAAAG AAAACTCCCAGATTAGAGGTATTTTGGATATGTGCTATCTCTCCCAAGAA ATATGACATTTTATCTTAGTCCAACCCCCAAAATTCTCATTTTGTCCTAA AACAAAAATGTAAAAAATAACACAAAATGCACAAGAGGTATTTCAGGAAG ACAGTAACAAGACGAAAACCCAGGGCTGAATTATTCGAATGAAAACCCTT GACTTGGTTCTACATAAAAAGCTCCCTTGTCTTTTTTTTTTTTTTTTTTT TTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGAGCA ATGTTGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCGATTCTCATGC TACAGCCTTGCCTCCCGAGGAGCTGGGATTATAGGCACCTGCCACCAGGC CCAGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCTGTTGCCCAGC CTGGTCTCGAACTCCTGAGCTTAAGTGATTTGCCTGCCTCGGCCTCTCAA AGTGTTAGGATTACAGGCATGAGACACGGCGCCCGGCCTCTCGTCTTCTT AGCATGAAATTGCTTGGGGTGAGGTAGGATGACAGAATTAAGTGACCCAT ACTGTTCAAAGTTGATGTATTTCACTACTGTTTGGTTCTCAGCATCATGC CACAGGGCCCAGATATCCGTGGAAGTTAAGGCAAAGTCAATCAGTGTCTC CTAGGAGGAAATGTGGGAAAAAAAGGGATAAAATAAGAAAGAAAGTAGTA GTTCACGGTGACTTACTTTTTCATCAGTAGGAGAGGTAAATGTATGAAAA CAAAACATGGTACCACATGAAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18949.hp2 NA18949.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0176 a0009c0011t0001g0176	1	338	0.0030	-2371	c.107 others(17): Show c.1078-122_1176-115del		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	9/36						chr11	TogoVar
NUP214_chr9_131120586_131239663	131139255	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01496.hp2 HG01891.hp2 HG02145.hp1 others(7): Show HG01496.hp2 HG01891.hp2 HG02145.hp1 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03831.hp2 HG04204.hp2 NA18953.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0011 a0015c0028	a0001c0001t0001 a0001c0005t0002 a0001c0005t0003 others(3): Show a0001c0001t0001 a0001c0005t0002 a0001c0005t0003 a0002c0002t0001 a0003c0011t0001 a0015c0028t0004	a0001c0001t0001g0233 a0001c0005t0002g0205 a0001c0005t0002g0212 others(7): Show a0001c0001t0001g0233 a0001c0005t0002g0205 a0001c0005t0002g0212 a0001c0005t0002g0213 a0001c0005t0003g0211 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0152 a0003c0011t0001g0192 a0015c0028t0004g0207	10	234	0.0427	1	c.100 others(7): Show c.1006-3dupT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	9/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NXNL1_chr19_17450425_17465926	17455960	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	408	0.0025	0	c.327 others(5): Show c.327-1G>A		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding	1/1						chr19	TogoVar
NXPE3_chr3_101774211_101833231	101782658	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0354 a0001c0002t0002g0354	1	380	0.0026	0	c.-31 others(6): Show c.-316-2A>G		NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	2/7						chr3	TogoVar
OAS1_chr12_112901962_112924903	112919388	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0004 a0001c0010 others(5): Show a0001c0001 a0001c0004 a0001c0010 a0001c0013 a0002c0002 a0004c0005 a0006c0009 a0008c0012	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0004c0005t0001 a0006c0009t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0004t0001g0007 a0001c0004t0001g0028 a0001c0004t0001g0105 a0001c0010t0001g0007 a0001c0013t0001g0004 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0077 a0002c0002t0001g0083 a0002c0002t0001g0102 a0002c0002t0001g0103 a0004c0005t0001g0006 a0004c0005t0001g0075 a0006c0009t0001g0002 a0008c0012t0001g0004	307	436	0.7041	0	c.103 others(6): Show c.1039-1G>A		OAS1	ENSG00000089127.15	transcript	ENST00000202917.10	protein_coding	5/5						chr12	TogoVar
OBSCN_chr1_228203044_228383876	228268529	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp1 HG02055.hp1	a0130 a0130	a0130c0073 a0130c0073	a0130c0073t0003 a0130c0073t0003	a0130c0073t0003g0288 a0130c0073t0003g0288	1	320	0.0031	0	c.541 others(6): Show c.5414-1G>A		OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	18/115						chr1	TogoVar
OBSCN_chr1_228203044_228383876	228374584	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02135.hp1 HG02155.hp2 HG02135.hp1 HG02155.hp2	a0044 a0044	a0044c0022 a0044c0022	a0044c0022t0001 a0044c0022t0001	a0044c0022t0001g0124 a0044c0022t0001g0172 a0044c0022t0001g0124 a0044c0022t0001g0172	2	320	0.0063	0	c.253 others(7): Show c.25367-1G>C		OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	107/115						chr1	TogoVar
OBSL1_chr2_219545728_219576539	219565515	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00558.hp1 HG00597.hp1 NA19056.hp2 HG00558.hp1 HG00597.hp1 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	3	380	0.0079	-2	c.213 others(15): Show c.2135-3_2135-2delCA		OBSL1	ENSG00000124006.15	transcript	ENST00000404537.6	protein_coding	5/20						chr2	TogoVar
OCEL1_chr19_17221226_17234219	17226993	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0020 a0003c0004t0002g0020	2	444	0.0045	0	c.247 others(5): Show c.247-1G>A		OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding	2/5						chr19	TogoVar
OCEL1_chr19_17221226_17234219	17226993	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp2 HG02970.hp1 HG02486.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0016	2	444	0.0045	0	c.247 others(5): Show c.247-1G>C		OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding	2/5						chr19	TogoVar
OGDHL_chr10_49729641_49767323	49738042	GCTGGCTC others(59): Show GCTGGCTCACCTCGAAGTCCTTGGTGAATGCCTGTGGGGACGAGATGCAT ATGGCCAGGGTGGCTGT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01433.hp2 HG01433.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0160 a0010c0013t0001g0160	1	316	0.0032	-66	c.239 others(78): Show c.2392-36_2421delACAGCCACCCTGGCCATATGCATCTCGTCCCCA CAGGCATTCACCAAGGACTTCGAGGTGAGCCAG	p.Ala others(13): Show p.Ala798_Leu808del	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	19/23	2507/3706	2392/3033	798/1010			chr10	TogoVar
OLFM1_chr9_135082668_135126180	135095862	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0281 a0004c0007t0001g0281	1	360	0.0028	0	c.301 others(5): Show c.301-2A>T		OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5						chr9	TogoVar
OLFML2B_chr1_161978192_162028869	162006474	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	384	0.0026	0	c.547 others(5): Show c.547-1G>A		OLFML2B	ENSG00000162745.11	transcript	ENST00000294794.8	protein_coding	3/7						chr1	TogoVar
OOSP4A_chr11_59959033_59975343	59970048	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	412	0.0024	0	c.480 others(5): Show c.480-1G>A		OOSP4A	ENSG00000285010.2	transcript	ENST00000645590.2	protein_coding	4/4						chr11	TogoVar
OPN1LW_chrX_154139243_154164032	154158811	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01169.hp1 HG01169.hp1	a0030 a0030	a0030c0025 a0030c0025	a0030c0025t0005 a0030c0025t0005	a0030c0025t0005g0065 a0030c0025t0005g0065	1	258	0.0039	1	c.985 others(6): Show c.985-3dupC		OPN1LW	ENSG00000102076.10	transcript	ENST00000369951.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
OR10A3_chr11_7932171_7946708	7939699	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG01074.hp2 HG02683.hp1 HG00140.hp2 HG01074.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0040 a0001c0001t0019g0075 a0001c0001t0005g0040 a0001c0001t0019g0075	3	447	0.0067	0	c.-17 others(6): Show c.-178-1G>T		OR10A3	ENSG00000170683.7	transcript	ENST00000642047.1	protein_coding	1/1						chr11	TogoVar
OR14A2_chr1_247717957_247753141	247724064	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0151 a0003c0003t0001g0151	1	348	0.0029	0	c.-19 others(5): Show c.-19-2A>C		OR14A2	ENSG00000241128.3	transcript	ENST00000366485.2	protein_coding	4/4						chr1	TogoVar
OR2T2_chr1_248440637_248460725	248446506	AGATGGGC others(93): Show AGATGGGCTCGCCTCGCCTCACCTCGCCTCTGCTGCTCCTGTGTAATCCT CCATTCCCTTACTCTCCATTTCCTCTTCCACAGCGTTAGCAGGGTGGACT G	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0018 a0003c0004t0007 a0003c0004t0018	a0003c0004t0007g0021 a0003c0004t0007g0118 a0003c0004t0007g0119 others(3): Show a0003c0004t0007g0021 a0003c0004t0007g0118 a0003c0004t0007g0119 a0003c0004t0007g0120 a0003c0004t0007g0121 a0003c0004t0018g0122	8	329	0.0243	-100	c.-44 others(112): Show c.-444-75_-420delTCGCCTCGCCTCACCTCGCCTCTGCTGCTCCTG TGTAATCCTCCATTCCCTTACTCTCCATTTCCTCTTCCACAGCGTTAGCA GGGTGGACTGGATGGGC		OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding	2/4				6185	INFO_REALIGN_3_PRIME	chr1	TogoVar
OR3A2_chr17_3271177_3391308	3278925	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	318	0.0031	0	c.-6- others(4): Show c.-6-2A>G		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	4/4						chr17	TogoVar
OR3A3_chr17_3406370_3429070	3420578	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02735.hp1 HG03239.hp2 HG02735.hp1 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0059 a0003c0003t0003g0096 a0003c0003t0003g0059 a0003c0003t0003g0096	2	440	0.0046	0	c.-6- others(4): Show c.-6-2A>G		OR3A3	ENSG00000159961.3	transcript	ENST00000641141.1	protein_coding	2/2						chr17	TogoVar
OR4Q3_chr14_19738571_19754469	19747402	T T	TTCTC TTCTC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG01069.hp1 HG01071.hp2 others(13): Show HG00099.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01243.hp2 HG01884.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG04228.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0003 a0003c0003t0006 a0003c0007t0003 a0003c0003t0003 a0003c0003t0006 a0003c0007t0003	a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0006g0011 others(1): Show a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0006g0011 a0003c0007t0003g0012	16	276	0.0580	4	c.3-3 others(11): Show c.3-3_3-2insCTCT		OR4Q3	ENSG00000182652.4	transcript	ENST00000642117.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
OR56A3_chr11_5937251_5956347	5947310	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp1 HG02602.hp1 HG01884.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	2	470	0.0043	0	c.-36 others(5): Show c.-36-1G>T		OR56A3	ENSG00000184478.8	transcript	ENST00000641160.1	protein_coding	2/2						chr11	TogoVar
OR56B2P_chr11_5756153_5774080	5763343	CACTCTTG others(10730): Show CACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTACCATCTCAGCTCACCGC AACCTCCGCCTCCTGGGTTTAAGCAATTCTCCTACCTCAGCCTCCTGAGT AACTGGGGCTACAGGCACACGCCACCATGCCCGGCTAATTTTTGTATTTT CAGTAGGGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTG ACCTCCTGATCCGCCTGCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCACCTGGCCTCCACTATATTTTTAACGTGCTTATATGTCAA TAGCCCTAACCTCCTCATAAACAATACAAGACTCATGGACATAAAACTGC TTATTTCTGCTTCAGTATTCATTCACATAATATAAATTGAGTGCTTATTA AGTGTCTGTCTCTTGGGGAAAAACAGTGACATAAATAACAAATATCCCAC GCCTTTAGGTTTCTATGGGAGATACGTATATCAACTCAATGACCTACACA CTGATATATATTTTTCCTTCTTTGGGCAGTTAGACACAATACAGTATTCC CCAAGCCACATTTTAATTAAGCATTAAAATTTGTAGAAACAATTTCATCA ATTAACCTTATTTTGTTACAAGTAGTATAAGATGTTATTACCTAAAGTGA ATATATCGACCAAGTCAACATAACATTGCCTCCTCTGTAGACTCTATAAT TTTAGCGCACAAATTTTAAAAATAATTTTTTGCCTTTATATTGTATCCTT AATATTTTAAATACTTAAAAGGAAAGAAGAAATAAATAGTGCAGAGTAGC ACAAGTAAAACATTTCATGAAAATTTGTTCTGAATATTTTAATTCAAATA TTAACAAAAGAATATAGAAAGGAGGTGTCAGATACAGAGAGATTAGATAT TAGGAGGCCTTATGCCAAAGCATTGCTCTCAAAATCACTGATTTGCGTGC ATGTCTATGTTTGTGTGTGCATGTGCGTGCATGTTTTTAACTTCTACGCC AGTCATCATGGCCATATGGCCATTAGAATACTCCAAAAACCAAAAATATA CGCAAGTAGAAATAAGTAACACAAAACTACAACCAACTGAATTTACAGAA CACTGGTATTTCCAAACCACATTAAACTCTTTCATATTTGCATGAATTTA TACACGTTATTAGAATGCTTACACATCAATTACATGACTATAAAATGGGT ATACTAACTTAGCTCATACATTTTAATAAAAAGTAAATAATATACATCAA TACTTCATAAATGTTTAAGTACGTGAACAAAAAATAGTTCACTTCTATAT ACTCTATCATCAAATATCTTACCTAAAAGGCCTCCATGCATAAAAAACCA CTACTCTGAGTTTATACATTAGGTCTCTAAAGAAACCAACTCGTTAACAA AGACAAACTTAGGAAACCGGGCTGCAATACCAGATCACTTTCAACTTGTC CTGCTCCTGTGACTTACTGTAAGGAAGCTCTTAAACAAGGTCCTGATTTT ATAATGTCGTATACCTTAGATATGAGAAAATGGAAAAAATATGACCTACC TTATAGAGTATTACAGATGATTAACTGAGTTATCACAGAGAATGTACCTA ATATCACATAGGATAATACATGTCCAATAGATGTAAGTGACAACATGAGA TTAACGAGGCTGAGTCACACCTCAATATCATGATGCTAGGTAATTATTTT CTCAATACTTCCATAGAGATTATTAGAAATACTAATATCAAATATTTTTC CCCTTAGTGGTGCTCCAGGAGCTCAGAGATTCCAACAGCTCTAAGTTCCA GGTCTCTGAGTTTATCCTGATGGGATTCCCTGGCATTCACAGTTGGCAGC ACTGGCTCTCCCTGCCCCTGGCTCTGCTCTACCTCTTAGCTCTCAGTGCC AACATCCTTATCCTGATCATCATCAACAAAGAGGCAGCACTGCACCAGCC TATGTACTATTTCCTGGGCATCTTGGCTATGGCAGACATAGGCCTGGCTA CCACCATCATGCCTAAGATTTTGGCCATCTTATGGTTCAATGCTAAGACC ATCAGTCTCCTGGAGTGCTTTGCTCAGATGTATGCCATACATTGCTTTGT GGCCATGGAATCAAGTACCTTTGTCTGCATGGCTATTGATAGATATGTAG CCATTTGTCGACCGCTACGATATCCATCAATCATCACTGAATCTTTTGTT TTCAAAGCAAACGGGTTCATGGCACTGAGAAACAGCCTGTGTCTCATCTC AGTGCCTCTGTTGGCTGCCCAGAGGCATTACTGCTCCCAGAATCAAATTG AGCACTGTCTTTGTTCTAACCTTGGAGTCACTAGCCTATCTTGTGATGAT CGAAGAATCAATAGCATTAACCAGGTCCTTTTGGCTTGGACACTCATGGG AAGTGACCTGGGTTTGATTATTTTATCATATGCTCTAATACTTTACTCTG TCCTGAAGCTGAACTCTCCAGAAGCTGCATCCAAGGCCTTAAGTACCTGC ACCTCCCACCTCATCTTAATCCTTTTCTTCTACACAGTCATCATTGTGAT TTCCATTACTCGTAGTACAGGAATGAGAGTTCCCCTTATTCCAGTTCTAC TTAATGTGCTACACAATGTCATTCCCCCTGCCCTGAACCCCATGGTATAT GCACTCAAGAACAAGGAACTCAGGCAAGGCTTATACAAGGTACTTAGACT GGAGTGAAGGGCACCTGATATGGAAAAGATATTCATTTTTTGAAAATTTT CTTCACATGTTTTTATATCATATTCTCCAACTGCTGCAAATGGCAGAACA ACAAAGAAATAGCATAATGAATTGGTGGCAACAACTGACACTTTAGAACA AAGGAGATAGAAGTAATATTTGAAATATTTGGGAGTCAAGCAAAAATCTT CATCACAAAGGGTAACAGTGATGCTATTTGTCTCAAGGAATTCAAAGAAA AGACTAATGTAATCTACATTTCATGTTCTTACCCACTTGTCTTAGCTAAA ACTTCCAGACAGTGTTGAATAGAAGTAGTTAGAGCAGATATTGTGTCAAT CTATTCCTTTTAATTGAAGAGCTTAATATTTTACATTTGATGTAATAATT GATAAAATAGGAGATACTTCTGCATTTTCATGATTTGCTTTATTATGTGT CTTATATTTTTAATTTGCAAAGGACTTGAATAGACATTTCTCTAAGATTA TATGCAAATGTCCAAAAAATACATGAAAAGATGCTCAACATAACTAGTCA TTAATCATTAGGCAAATTCAATCAAAACCACAATAACACACCCCTTTACC CCCTATATTATACAACACCACAATAACACACCCCTTTACCCCCATATTAT ACATATAAATGTACTGCAAATTTATTTTTTTGCAATAAGAGATTAGTGTT TGCAAGTATATGGATACACTGAAATCTCAATACATTGTTGGGAAGTAAAA ATGGCACAGTGGCTGTGGAAGAGTTTGGCAATTACTAAGAAACTTCAGTG CCATTAACATATGACCCAGGACCCAACTTTTAATAATACACCCAACATAA TTGAAAAAAATGTTAATACAAAAACCTGTACACAAATGTTTACAGTAGCA TTATTAGCCAAAAAGTAGAAACAACCTGTATATCTATAAGCTGTGTCTTG TTCTGTTTTGTGTTGTTACAACAGAATACCTAATACTGAGTTAGAAATAT AGGTTTATTTAGCTCATAGTTCTGCAGGCAGGGTACTTCAAGGACATGTC CCTGGCTTCATCTGAGGACTTTGGTGTTGCCTCATAACATGGCAGACAAG GTCAAAGGGAAAACAGACATGTGCAAAGAGACAAAACCCAACGGGCTTCC CAGCTTTATAACAACTCACTGTCATGACAAATCCATCTCCCAGAGAACTG ATCCAGTTATGTAACAGAGAAAACTCAGTAACTGCCACAAGAATAGCACC AAGTCATTCATGAGGAATCCATCCCCAGGACCCAAACATCTCTTACTGGG CCCCACTTCCCAATACCACTACAGTGGGGATCAAATTTCAACCTGATTTT TGGTGGAGACAAGCAAACCCTATCCACACCATAGCAGCTACTGAATGGAT AAACAAAATTAAGTGTATCTATACTAGGAATTATTATTTAATAAAAAGTA CCTATATGAGATGATAGATATACTAATCAGCTTCACTATAATAATTATTT TGCTGTCTCTATCCCATAATTTCATGCTGTAAATCTCAAATATATATAGA ATAAAACTTATCTTACAAAAATTCAACTTGATTGAATTAAAAATTGCTAA ATTTAACAAAATGACATGGAAAATTTTGTATAGTAAAGAGGAAAAATATA AAAAGAATAAATTCTCCCAACAACAAACAAACAAAAGTAAATGAAGTACT CGTACAATCTGCAGCATACATGAACTTTGAAAACATTATGCTTAGGTTAG TGAAGAAAGCCAAACACAAAAGGCCACCTAGTATCTGATTCCATTTGTAT GAATATCCAGAATAGGTTAAGTCTATAGAAAAAAAAAGCAAATTAGTTGT TAGTAGGGAATGGAGACTCCAGGCAATAATGAGAGACTAACTAATAGTTA TGAAGTTTCCTTTTGAGGTAATGGAAATATTGTGAAATTAGATAGTGGCA ATGGTTGCACAGCATAATGAATGTAGTGAAAGTCACCCAATTGTACGTTT TCTTTTTTCATTTTATATAAAATTAAGGGGTACAACTGCTTTTTGATACA TGGATGTATATCCATGTATAGCCTGGCTGTGGTGAAGTCTGGGCTTGTAG TGTACCCACCATAGTGGGTACCACCAGCATAGTGTATATTGTACCTACTA AGGAATTTCTCATTCCTCATTCCCCTTCCATCTGCCCATCCCCCAAATCT CCAATATTTATCTATTTCACACTCTATGCCTATGTGTACACATTAGGTAG TTCCCACTTAAAAGTGAGAACATGTGGTATTTGCTTTTCTGTTTCTGAGA TATTTCACTTAAAATAATGGCCTCATAATCTATGCACGTTGCTGCAAAAA ACATTATTTCATTTGTTTTCTTGACTGAGGAGTATTCCATTGTATATCAT ACCACATTTTTTTTATCCAGTCATCTGTTGATGGACACAGGTTGATTCCG TATCTTTCCCTGTGATAAACATACTAGTGCCAATATTTTTAAGTGTAATT ATTTTAAATGCAATTATCTTCTTTTGGGTAGATACCTAGGATTGGCATTG CTGGATGGAATGGTAGTTCTAGTTTTAGTTTCTTGAATATTTCCGTACTG TTTTCCATAGAGGTCGTACTAATTTACATTCAATATAAAACAATATAAAA AACTGCAAAAATTATTCTCTACATGTATATTTGTTATATAACTTTCTGTA AATTAAAAGAACATAGATGTCTGAGAACAGGAAAATACTTAAGGAAGTGT GTAAAACACATAATGTGCCTTTATTTAATCATAATACTGAACAATCCTTT TTTGAATGTGCTTAATATAAACATTAACTGAAAATGATAGAATTTTTGTT TAAAATTTGATGTTATCCAAACGTTTGTCAAAAGTATATATAGAAATTGT ATATAAAAGAAAAAGTATCAGAAGTTACCTCTACATTATAGAATTAGGTT CTAATTATCTCTGTGATGTCCTCATTTTTATTTTTACACTTAATAAAAAC AAACATTTTTCTTCTAAATAAAAATACATAAAATTAGATTAATTATTGTC TTTTATTATTGCGTTTATTTGCATCACTATTATTATCTCAAAATTAAGGC ATCTATTTATTGCTAGTTTAATATTTATATGTAATAAGTCTGAACTTTTG ATTAATTTTTACAATTCCATAATATTCATCACCAATCTTCCTTGGAAATA AATTGCTTGAAAACCAAGGCCCATGTTTTCTGATGCTTTTTTCAAAGTTC CTAGACTAACTCTGAGAGTATGAAGCACTCAATGATGTTACTTAATACAT GAAAACATAAAAAAAGGAAGATGCAAAGTTGTCTGTGTGAGCAATTAACA CATTCTGTGCTTGCTTCCAATTTGTATGCCACAAGGCCTTAAGCAAAAAG AAACAACTCTGCAATCTTATTAATAACATAATTTTTAAAATAAAAACATC CTGTGTTCTTTCTCGCTTCCCCCCACATATACATGGCCACACATAAGCAC ATGTACAGATACATTCATAGGAAAGTATTCACTAGTTACTTATGAGGCAT CATATAGGTGATGAGCATGGAGTGTTTCCACCCTTTCATCTCCTGTGAGC GTTGTCTTAATTCCAACACTGTGACCCTAATTATATGAAATATCCCCTTG GGACATATAACACATAATTTTCTTTAAAGGCTCATATCAGTAGTAAAGGT ATCAAGGGATTTTAATGTTGGGGGGAGTACATGTACATATATTGTAGGAT TCTCATGTGTTCTTTGACCAAGATTCTGAACATCTGGGCCAAACTGCATT CAGCTCATTCTATTGGCATCTGGAAATTAGGTATTAAAGGACATAAAAAG GAGACAGGGGTAGTGACAGGATTTTTCTTGTTGTAGTTCATAGTAGATAA ATTGGAGAGATGTTTTGCCAAAGTGTACAGAATCTTTGAGTGTATACTAT TATTATTCTCAGAAATTCAGACTTGATTTCATCCACTTAGTTTGAAGGTA GAAGTGTTGCAGACATTTGTTTTGCAGAATGTTTATTTCCCCAATTTTCA GGTTTTCATTCAGCGAAATTTTTATGATGATTTTGAATATTTATAAACAA AGCAAACAGGAATCATTGGAAATGATGAAAGTCAGGTATGAACCACCCGA CAACATGGAGAAAAAATAGAAAACAGTTCTTGATTATGGTCAGAATTCTT CCATAATCAAGTTCTTACCTGCCCTCCTCTTGTTCCTTAGAATAAGAATC TAATTAACTGGCTTTATTCCTAGACAGACATAGTTGTGACTGTGTTTCAT TGATTTTGGACAGCAAACATACTTGGATGAACCTACAGTCATTTTGAGAA AAGAGCATGGTCTGTAAAGACTGAGCATGGTCAAGTGAGGAAACAAAGTT ACTATTTACAGAGTTTGGGGTGAAAATGCACAACCGATGATATCAAAATC ATACTTTATAAATGGTGGTATTTGTTTTTAATGTTATCACTTAATAGACC TACTCACTCACAGCATAATACAAATCTATTATTCTTGCAGAATTATAAAG TAATATAGTATTAAAAGCATTTTATAAGCTTATATTTCTTGATGAGACTC ATCACTTTTTAAAAAAAGTTGTGGCCCTCAGCTTCAAATCCTGATAATCG GGAACTCAGCGTATTGGGGACTAGAAGGTATTATAATTTCCCTTTTTCAT AAAATATAAAGCTGAATTATCTTTCTTTCATCACCAGCAATTAGATAGAT TTGTGTAAATTTACATTGCCACAGCAGTCACATTGCCCAGCTGAGTTTCC AGCAAGTATAAATATCATTCTCAGAGGCAATTTATAGTACAGTTCAAACA GACATCTTTCTCAATCGAAATCTCTTTCCCTTTGACTCTCGGGAAGCACA AATTAGAGAAATACAGAAAGCGGCATGTAAGATAAAATTAAAATGTAGCT GCTGTATTAAAAGAAGAGAGAATTAACAAAGTAAAATAAATTTTTGCTAA CTTTAAAAAAAGCGTTTTTAATTTGTTTTGGAGAAAGTATTATATAACTT GTGCTTAGTGCTATATTATTTTGTATCAGCAAGATCTTTAACTGAGATGC TTATAAATGTAATTGAGATGAGAACTAAACTTCTCATGTAACAATAAAGC CAGTTTTAGTAATTAAAACTATATAAAAAGGAAACACAAGAGACATAAAT AGGATATTTATGTGTTTCCCTTTTATAGTTACAGTTTTAATATATATTAA TATAAGGTATATTAAATATATGAGATATAATGTAATATATATTAAATATA TAATGTGAGATATTATATATGTAACATAAGATAAATATGCAATGTGAGAT AAAGACAGCATAACTCATCCTAAAGATATATTTTTTATTTTCAACCTAGA GGTATCTTTACGTTCTCTAATTTCTCTACTTGCTTCTGTTACAGACATAT AGAGTTAAGAGTTGACTGCTTAAATGAATCGATCAGGAAAAGCAAGCAAT AATTCAATATTTTTCAAATATTTATGAGAACTTGGCATATATTAGTCAAA TATTTATCAAACTACATTAGAAAATCTAGCTTATTTTCACAGTAATCTAT ACAATTATGTATGTATGTGTATAAATTATTAATTTAGTTTCTTTAATAAT AAATTGTAAAGGAAATTTGAAAAATAGAATACACAAACATGAAGAACAAA TTTACAAGCTTCACAGAAAGAAAATTGATAATTTTGTTATACAAGGAAAC ACTTTCTCATTTTGTAAGCACATATTTTTCTTATAACCAGAATACTAATT ACAAAGCTTTTCTTAGCCTTGAAATTATTTGTGTAAATCCATACCAGTGT TGCTAAGTCGAAAATTGAAGATCAGCCAAGAAGTTGTGTTAATGTAAGTG GATTCCCCATTTTAAAATTTTCATTGTGTACTAATAATGTGAGAAAAATA ACTTCAGTGTTTTCCATTATTTTGCTTGAGGGAAACTGTGTCAGACAGGA AAATGAAACAATTTGGTTCAATCAGTTTGATTTTTTTTTAATTTTCAATT TTTTGTGGGTACATATTACATGTATATATTTATGGGGTATATGAGATGTT TTTATACAGGCATGCAATGCATAATAATCACATCATGGAGGATGGGTTAT CCATTCCTACAAGCATTTATCTTTGGTGTTACAAACAATCTAATTATACT ACTCATTCTTAAATGTACAATTAAGTTATTATTGACTATAGTCACCCTGT TGTGCTATCAAATACTAGGTCTTATTCATTCTTTATAACTTTTTTTTTTG TACTCATTAACCATCACCACCTTCCCCGCCAGCTCCCACCCCAACCCACT ACCCTTCCCGGCCTCTAGTAATTATCCTTCTATTCTCTATGATCATGAGT TCAATTGTTTTGGTTTTTAGATACCACAAATAAGTGAGAACATGTGATGT TTGTCTTTCTTGCCTGAACATAATTATTATGGTATTTTACTTCACATAAT AATCTCCAGTTCCATCCCTGTTGTTGCAAATGACAGGATCTCATTCTTTA CTGTGGCTGAATAGTACTCCACCGTGTATATGTACCAAATTTTCTTTATC CATTCATCTGTTGATGGACACAGGTTGCTTCCAAATCTTGGCTATTCTGA ACAGTGCTGCAATCAGCTTTAATTGCATGGTGTCATGCATTTCATCTATT GTTTATCGAAAGTTGTCTCTACCCAGTACTTACTTTCTTTGGTTTCTACT TTGACTTTAATATTTCCTCAAAAAATTTTGGGGAAGGTTTTTAGTATGTT TAGTTTCTATTTCTATGAAACTCTTTGTGCATATATTGTATATAGTTTTG CCTTTGTACTTTTTTATTGCATATGTATGTATGTATGTGTATGTATGTAT ATGTGTGTGTATATAAATATATTTTATATATATATATTTTATATATATAT ATATATCCTAGCCCTGTGAAATAGGATCAACTTGTGGTAGAGATTAAATA ATTAACCTTTACCTCCCAAACCAAAATATTTGTTTGGTTTGCCACCTTAT TTACTTATTTATTTATTTTACCTTTTGGGGTTATCCTTTGTTTTCCCTAG GATTTTTCCAGGAATATTTTTTACAACATTATTAATCAAAAAGTAGAAAT GACGTATATATCCATCGATTGCTGAAAGGATAAGCAAAATAAAGTATACC CATAAAAGGAATTATTATGGAATTATTATTCTGTCACCAGAAGAAGTGAA GTATGGTACATGTTGCAACATATATAACTATTGAAAACATATTAAGTGAA AAAGTTAGACTCAGTTGCCCATCTCTTGTGTGATTCCATTTATATGAATA CCTACAATAGTCCATAGAAACAGAAAGCAAATGAATTGCTGTCAGAGCCA AGGGGGACAGGATGATAAGGACAGACTGACTAATGGTTACGGAGTTTCCT TTTGAGATGATGAAAGTATTCTGGGCTTACATACAGGTGATGGTTGCACA GCATTGTAACCATATTTAAAGCCACTCAATTGTACACTTAATTTTATTAT TTTTAAATTTTGTGGATGCATAGTAGGTATTTATTATTTGATAAATGAGA TGTTTTGCTCTAGACATGCAGTGTGAGATAAGCACATCATGGAGAATGGG GTATCCATTCCTTCAAGTATTTATCCTTTGAGTGACAATCCAATTCACTA TTTAAGTTATTAAAAAATGTACAATTATTATTGATAATAGTCACTGTGTT GTGCTATCAAATAGTAACTTTTATTCATTCTTTCTATTTTTGTACCCATT CTTTCTATTTTTTAATTCATTCTTTCTAACTATTTTTTGTACTGTCTCCA CCTCCCATGCCCAGACCTTCACTACACTTGCCAGCCTCTGGTAACCGTCC TTCTACTGTGTCCATGAGTTCAATTGCTTTGATTTTAGATCCCACTAATA AGTAAGAATATGAGATGTTTGTCTTTCTGTGCCGGGCTTACATCACTTAA CATAATGATCTCCAGTTCCATCTATGTTGTTGCAAATG	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show HG00099.hp2 HG00280.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02080.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18972.hp2 NA18990.hp2 NA18995.hp2 NA19005.hp2 NA19010.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0002 a0000c0000t0002	a0000c0000t0002g0003 a0000c0000t0002g0023 a0000c0000t0002g0003 a0000c0000t0002g0023	59	434	0.1359	-10737	c.2-1 others(12): Show c.2-1754_*8033del		OR56B2P	ENSG00000181017.7	transcript	ENST00000641377.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
OR5BS1P_chr12_48554882_48567956	48562793	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02886.hp2 HG03195.hp1 others(1): Show HG01884.hp2 HG02886.hp2 HG03195.hp1 HG03486.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0000 a0002c0002t0000 a0005c0005t0000 a0001c0001t0000 a0002c0002t0000 a0005c0005t0000	a0001c0001t0000g0025 a0002c0002t0000g0014 a0005c0005t0000g0014 a0001c0001t0000g0025 a0002c0002t0000g0014 a0005c0005t0000g0014	4	458	0.0087	0	c.774 others(5): Show c.774-1G>T		OR5BS1P	ENSG00000198678.5	transcript	ENST00000328207.6	protein_coding	1/1						chr12	TogoVar
OR5M3_chr11_56464274_56478352	56470542	CTAAAA CTAAAA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01167.hp1 HG01168.hp2 HG01256.hp1 others(1): Show HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	4	452	0.0089	-5	c.-44 others(16): Show c.-44-6_-44-2delTTTTA		OR5M3	ENSG00000174937.5	transcript	ENST00000641993.1	protein_coding	1/1						chr11	TogoVar
OR6N2_chr1_158769222_158786204	158777642	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01358.hp1 HG01884.hp1 HG01358.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0051 a0001c0001t0006g0047 a0001c0001t0006g0051	2	458	0.0044	0	c.-6- others(4): Show c.-6-1G>T		OR6N2	ENSG00000188340.3	transcript	ENST00000641131.1	protein_coding	1/1						chr1	TogoVar
OR7C1_chr19_14793515_14840185	14804473	TAATATTC others(7661): Show TAATATTCAAAATATTTAGTTGTAATGAAATATTATGAGACATGCAATGA AACAAGAAAGTATAGCAAAGGAAAGAATAATTAATTAGTAGAACCTGACC CCAAGGAAGCCTTTACTGAGGCTCAATGCCTGGGCTTCTTCGTTTACATG CAATCTCATTTACATGAAATAGCCACAATACATAAACGAGTCGCAGGATA ACGAGTCGCAGGGACTGGGGAGCGGGGGTAGGGGATGAGGATAAAGTGCT ACTGTAATGTGTAAGTGGTTTTATTTAGGAGTAATGGAAATGTTTTGAAA CTAGATAGAGATGGTGGTTGCGCAAAACACAGAATGTAGTGAATGGCACT CAATTGCTTGCTTTCAAGTAACTGGTTAATTTATGTTATATTAATTTCAT CTCAATAATTTTTTTTTGAGACAAGGTCTTGTTTTGTTGCCCAGGCTGGA GTGCAGTGGTGCAATCATGACTCACTGTAGCCTTGACCTCCTGGGCTCAA GCAATCCTCACATGTCAGCCTCCAAAGTAGCTGAGACTACAAGAATGCAC CGTCACACCCAGAAGCTAGTGGATCTAGATAGATAGGAAGTTTGATTGCC TATTGAATTCCTATTAAATTCCTCTGCTATGTATATGGCCTCAATGTTTG AATTCACAAGCACGGGGGTTAGAAGGAACATTTCTTGTTCAGCTTTGATC ACTACGCTGCAGAATGCCCAAAGAAGGTCCCCAGTCTGTACTCCTCCTGC CTGCAAAAAAAAATCTGAGAGTTCTTGGGGCTAGAGCTTCCTCACACTCA AGGGGAATGAGATGCACATTGATTCAAGGCTCATTGAGACCCTGGTGCCT TCTGTAATCTAGGACCATCCCTGGAGCATCTTCATGTCTCCCATGATGGT CCACTGAGGCAGGACCCAAGAAACAGGAAAATAATTTTTTTTTTTTTTTT TTTTTTTTTTTTAGACAGAATCTCACTCTGTCACCCAGGCTGGAGTGCAG TGGTATGATCACAGCTCACTGCAACCTCCGCCTACTGGGTTCAAGTGATT CTCCTGCCTCAGCCTCCTGAGTAGCTGGGATAAAAGGCATGTGCCACCAC AGCCGGCCTTGTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTGCC CAGGCTGGTCTCGAACTCCTGACCTCAAGCGATCCACTTTTCTCGGCCTC CCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCGGCCTGGGAAAT TATTTCTGTGTGACAAAAAATAATCTGAATGACCAGCTTCATTGGGTTTT CTTTTTCTACCTTCCACATGTGACCATCCATTAGGGATCTAGTAATAACA TTTTTAAGTCACAAACTTTGAGAGGGACCAGCTATTTTTATTATCCCATT TATATAAGACTGCTATCTAAAAATTACAACAGTTCTGGGACATATACTGA TATGAGTCAATCCAAAAATGTAATTTGGACATCAAAGTAAGACCAGATGG TGACTTGTTAATTGGAGACACCAAATTAATGTTAATAATACAGAAAATTG TCCTCTAACTATGATGGTATTATACAATAAGTCTGTACTATTTAGAGTCT AAATGTTCTTGTCACTCAATGAGATGTGCTTTAACTCAAGACAAGGTTTA CTGCTATTTTTTTCAGGGCTCCTGAATACCTGGGCAATACCTAGTGTCCT TGGCTCCCCTCTACTGCTGTGTGGCTGTTACTGTGTGTGAGGTCTTTAGC CTACATTAAGGAACATTTCAAGAATCTAAAAATGTGTTTTTGGATTCCTT CAAGGGAATTGGCTGGAAACATTGCTCCTTCCATCACACAATGTGACTGC TTTAAGAGAAACAGTCATTAATGTATTTTATGCCTTCATGTCAGGAATGG CCATGTTGCTAAGTTTTATTTTAAGTTCCAGGATACATGTACAGGACATG CAGATTTGTTACACAGGTAAATGTGTGCCATGGTGGTTTGCTGCACCTGT CAACCCATCACCTAGGTATTCAGCCCTGCATGCATTAGCTATTTATCCTG ATGCGCTCCCTCTGCCAACTCCCACTGACAGGCGTCAGTATGTGTTGTTC CCCTCCCTGTGTCCATGCATTCTCATTGTTCAGATCCCACTTATGAGTGA GAACATGAGGTGTTTGGTTTTCCATTCCTGTGTTAGTTTGCTGAGGATGA TGGCTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGGTCTTGTCCCTT TTTATGGCTGCGTAGTATTCTGTGGTGTATATGCACAAAATTTTGTTTAT CCAGTCTATCATCGATGGGCATTTGGGTTGATTCCATGTCTTTGATATTG TGAATAGTGCTGCAATAAACATATGTGTGGATGTATATTTATAATAGGAT GAATTATATTCCTTTAGGTATATACCCAGTAATGGGATTGCTGGGCCAAA TGGTATTTCTGGTTCTAGATCCTTGAGGAATTGCCACATTGTCTTCCACA ATGGTTGAACTAATATAGGTTACCACCAACAGTGTAAAAACATTCCTATT TCTCCACAGTCTTGCCAGCATCTGTTATTTCTTAACTTTTTAATAATTGC CATTCTGACTGGCATGAGATGGTATCTCATTGTGGTTTTGATTTGCATTT CTCTAATGATCAGTGATGTTGAGCTTTTTTTCATGTTTGTTGGCCGCATA AATGTCTCCTTTTGAGAAGTGTCTGTTCATGTAGGGATGGCCATGCTTCT ATTAAGCACTTTTTTGTTTTAATGTTATGGATCCTGCTAATCTTGTAATT GATCATTGTGCCAGAGATTGCCTACCCAATATATCCATTCTTTTTTTGTT ATTAATAGAACTCAATTATATTTGGAAGTGGTCATGTGTCCAGCTAAGAT ACTATATTTTCCACTCTCTATTGCAAAATCATGGAGAGTTGAAGCATAGG AATTTATTTGATGGGAATCCTGGAATCCTCTTTAGAATCCTTCCCCTCTG TTCATCTCTTTCTTGCCTGGGATTTGCACATGACACTGGAATTCCCTTAG CTGATATATCTTGGAAAACAACACATTAAAGATGGGGCAGCAGAGAGATA GAGTAAACCCTTGTGCCTCAGGTTAGCACAGAGTGATCATGGTGACCCAT TCTTTTAGGGAGGAGACACATTAACTCCTGATTGAATTAAAACAGTGGTG GATCACGAGGTCAGGAGACTGAGACCATCCTGGCTAACACGGTGAAACCC TGTCTCTACTAAAAATACAAAAATTCAGCTGGGCATAGTGGTGGGTGCCT GTAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGGCGTGAACCCAG GAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGG GTGATAGAGCGAGACTCAGTCTCAAAAAAAAAAACAAACAAACAGTCTTT AGAAGCAGTCAACAAACATGAAAAATTGCTCAAAAATTTCTCTACATCCT CACCAACATATTTTTTTATTTCTTTAATAATAAACCATTCTGACTGGTGT AATCATCAGATAAATGCAAATTAAAACCACGATGAGATACCATCTTACAC CAGTCAGAATGGTTATTTTAAAGAAATAAAAAAAAAAAAAACAACAACAG ATGTTGGTGAGGATGCAGAGAAAAGGGACTGCTTATGTGCTGTTGGTGGG AACGCAAATTAATTCAGTCTCTATGGAAAACAGTATGGAGATTTCCCAAA GAACTAAAAGTAGGACTACCATTCAATCCAGCAATCCCACTAGTGGGTAT ATACCCCAAAGAAAAGAAATCATTACACAAAAGACACCTGAACTAATACG TTTATCACAGCACTATTCACAATAGCCAAGTCATAGAATCAACTTAAGTG TCCACCAATGTATGATTGGATAAATAAAATGTGGTATATATACAGCCAAC GGAATACTACTCAGCCATAAAAAGAATGAATTCATGTCTTGTGCAGCAAC ATGGATGGAACTGGAGGCCATTATCCTAAGTAAAATAACTTGGAAACAGA AAATCAAATACCATATGTTTTCACTTATAAGCAGAAGCCAAACAATGTAT ACCATGGGCATAGATAATGGAATAATAGTAGGCATTGGAGACTCCAAAAA GTGGGAGGGTGGGAGGGATGAGGTTTGAGAAATTACCTATTGGGTACAAT GTACACTATTTGAGTGATGGTTACACTAATAGTCCAGACTTCACCACTAT GCAATGTATCTATGTAACACAAACGTACTTGCATTCATTACATCTGTAAA ATAAAAGTTTTTCCATTTATGTAGACACATTTCAACCTAACAGCACAGAA TGCTTTGTCCTCGTTAGAACTCATAGAGTCATATCGGGGCCCAATTTGGG CTACTATGTAACATTTGGTGAAATATATTTTGATTACTTCTGTAATTATG CACCTCGTTGTATGCCCCCCTTTTTTTACTTCTGTTACAATATTTCCTTT GTCATATACATTTAAGATATTTTTCTTTGTTTTGCATATTGAGTAGGTTT CTTGAAATTCTTTTGGAACATGTTATGTAAATGAACAAATAAATCAATGG TGTGTTTCGAGTGACACTCAGCCCTGAATTTGACCCATTGTATCTCTACT TTCAAAAGCATTCTCTGAGATCTCCTTAAACTCACTGTTGTGCTGATGAG GGATTGATCCACAGAATGTAAGAAACATCTCTGGGGTCAGGTTCTAGAGG GAAAACGCTGAAGTAAAACTCACACCTGCCCAACTCCAAGTCAGGGCCTT TCTCACTCACAATGCTTCATAAATACGAGGAGATGGTAAAGTTGAAATAG AGCCGAATCCTGAGGCTTGCACATACGTAAAGGAAGGTCAGATCCGGCTG CAGGAAGAGAGTGGCCCTGGAATTGTGCCAGATTGAAAGCAAGAAACAGA GATTGAAAGCAAGAAGAAACAGTAATGGAGAGCAAGAAACAGATTGAAAG CAAGAAGAAACAGAGATTGAAAGCAAGAAGAAACATAGATTGAAAGCAAG AAGAAACAGAGATTGGAAGCAAGAAGAAACAGAGATTGAAAGCAAGAAGA AACAGAGATTGAAAGCAAGAAGAAACAGAGATTGGAAGCAAGAAGAAACA GAGATTGGAAGCAAGAACAGAGAGAGGACCGGCTGCAAGAATCCCCTTCA GAGCGAGGGACACAAACTGCTCAGGACTTTGAATCAATCCTCTTTCACCA TCTCATCATTTCTGGCTGTTTCCCAGAAGACTTGGTTAATAAAAGCTTTT CTTCCCTCCACAAAACTTTCCCACAGTACTTACGGGTTTACTCTGGCTTC TCTTGATATCCCTCAATGGACTTGGCTCTGTTGACCTTCCCTCCTTGCAC AATCGGTGCAGGCAGGGCAAGGGGGTGGGTGTCAGGGGCTGGTTCTCTGG AGTGGATGGACATTTCAGAGAGGCATAGAGAAGGTGCTCTTGGTCTGGGG CTGGTGAACTGCAGGTGGGTTCTGCAAAGGGAGAATTTACAGTTTATGGA GAACCGGAGGCTGAATTCTCAGGGCTCCTCATTAAATAAGTTGTTTTATT GTTGCTCAATTCTCCAAGCAGTTCAGCTCCTTGGAGGCCAAGCAATATAA ATAAAAAGTGTTTCTGCCAGTTCATTCCCCGTGGGCTCACCTTTGGGACT AGACACATATTCCTTTCTATTCGATGGTTTTCATCTCCCTTAGAATGAAC ATCCTTCCCCCAACACTGGAAATGACCCCTCTTCCAGGGCACATCTCAGG AACCACCTCATGAATCTCCAAGTTTCTGAGGGACACTCGGTTTCCAGTGT TAGACTTAGACATATGGTTTTGTCCCCTAACCACATTCAACCAAAATGAG TTTTTTTTTTTTGTTTTTTGTTTTTGAGATGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCACCTCCC GGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTATAGTGGA GATAGCGTTTCACCATGTTAGTCAGGATGGTCTCAATCTCCTGACCTCAT GATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA TGGCGCCAGGCCCGAAATGAGCTCTTAACTGCAGCTTTGTCCTGGCTTCT ATTCTGGACACTGGAGACAGATTCTGGAGAAAAATTAATGGGCCATTTCC CTTGGTAGAGAGTAAAAAAGGCTCATTTTGGCTGCAGAGTTAGCGTTTTC TTGTCTCAGTTTCTCTGAGTTCAGTTATTCGGTTTCTTCATCTGGGCTAA ACACATTCATATTTTTAATCCACATGATCTAATTTTTTGGGCTATATTTC TATGTATGTTATTTGGAGCATTTCTTCCCAATGGGAAGGAATTTGGATAA AAAATAATCAGCACCTGACAGTGACTAAGAGCATGCACTGGCAAACATTT TTGTAAAGGGCTCAGTGGTACATATTTTAGGCTTTTTGGGTCCTATGTTC TCTGTCACAATACTTAACTCTGCCATTGCTGTGAATGCAGGTGTATGCAA TACTGACACTAATGGGCATGGCTGTTTGTATTAGCCTCCTGTGGCTGCTG TCACATGTAACCACAAACTGGGTGGCTGAAAACAACAGGAATGTATTCTC TTATAGTTCTGGAGTCCAGAAGTCCAAAATCAAGGTGCAAGAAGGGCCAG GCTTCCTCCAGAGTCTCTAACGGTGATTCTGTTCCTCGGCTTTTCCATGC TCTATGGCTCCAGGTGTTCCTGACCTTGCAGCTGCGTCATTTCAATCTCC TCTGTCTGTGTCATTTGGTTTCCTCTGCACCTGTGTGTGTTTTCTCCTGT GCATGTCGCTTATAAAGACACTGTGTCATTGAATTTAAGGTCCACCTGGA TAATCCAGGATGATCTCATCTCAGGATGCCTAATTGTATCTGTAAAGACT CTTCATCCAAATAAGGCTACATTCACTGGCACTAGGGGTGAGGATGTGAG CTTATCCTTTAGGGGGGCCAACATTCAACTCACCAAACTTACTGTGCTCA AATAAAGCCTTTTTACAAAGAGGCTGTGGGTAGGATTTGGCCTGTGGGCA GTAGTTTGCTGACCCCCAGCTTAGAGGGTAGATTCAGATACAGGGAGCTG ATAATCACAGAGGACACTAAAATTTAAAGAAAAGTTAAATATGGCTTCAT TTCTGCTACTGTAATTCACCTATTAAAAGGACTGTCAGACTATCCACCAT ACTCTAATCTTTTATTATGCAAGCTGTAAATACAGATGAAGCTTCACTTG CTCACCTGCTGCTCACCTCCTCCCGTGCGGCCTAGCTCCTAACAGGCTGT GGACCAGTACTGGTCTGTGGCCCAGGGGTTGGGGACCCCTGCACTAAGTT ATTTACTACTGTGGACCTATGGGGTGTAGGTGCTTTTTATTGAGCTTCCT GGTGTGTGTTGTTCAGTCTTTGCTGCAGTGACTGGGGCAGCTCTGCTTCA TGCTGTGGACAGGCTGGGATGGTTCTACTCCATATGTCTTGTCAGTGGAT TAGCAAGGGCATGCTCTTA	T T	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02622.hp1 HG02818.hp1 HG03130.hp2 others(1): Show HG02622.hp1 HG02818.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0099 a0001c0001t0010g0234 others(1): Show a0001c0001t0010g0096 a0001c0001t0010g0099 a0001c0001t0010g0234 a0001c0001t0010g0235	4	408	0.0098	-7668	c.-62 others(19): Show c.-622-2148_-434-3710del		OR7C1	ENSG00000127530.4	transcript	ENST00000641666.2	protein_coding	2/5						chr19	TogoVar
OR8G5_chr11_124251376_124271224	124264917	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	2	432	0.0046	0	c.-14 others(5): Show c.-14-1G>A		OR8G5	ENSG00000255298.5	transcript	ENST00000641992.2	protein_coding	1/1						chr11	TogoVar
OR8H2_chr11_56098687_56112658	56104817	GCCATTCA others(56): Show GCCATTCATATAAACAGAAAGTTTTTTTTTGTTTGTTTTTTGTTTTTTGA GTCAGAGTCTGGCA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0017 a0001c0001t0024g0017	1	452	0.0022	-63	c.-17 others(75): Show c.-171-53_-162delCATTCATATAAACAGAAAGTTTTTTTTTGTTTG TTTTTTGTTTTTTGAGTCAGAGTCTGGCAC		OR8H2	ENSG00000181767.3	transcript	ENST00000313503.2	protein_coding	2/2				162	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8H2_chr11_56098687_56112658	56104871	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18960.hp1 NA18978.hp1 NA19005.hp1 others(5): Show NA18960.hp1 NA18978.hp1 NA19005.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	8	452	0.0177	0	c.-17 others(6): Show c.-171-1G>A		OR8H2	ENSG00000181767.3	transcript	ENST00000313503.2	protein_coding	1/1						chr11	TogoVar
ORM1_chr9_114318098_114331479	114325917	CCCACTGT others(5555): Show CCCACTGTCTGGCTAGGGAGCCTCGAATGGGTCCCAAGGCCACCCTGCTC CTCAGTTACATCATCTGCATAGTAGTGGTGGTTGTGAGGAATTCAGGAGC TGCAGCATAAGGGCTCGGCAGGTCCTAAGTGCACAGTAAATGCCAGTGAT TCTTAAGAGTCTGAGCTCCCATTGTAGAGGCAAGTAAGCTGAGGTTCAGA GACAGAAAATGACTTGCCCAAGATCACCCAGCTGGGAAGTGACAGTGCCA GGGTTGGAGCCCTGGTTGAGCTGGTTCCACAGGCCAGAGCTCATTCTGCC CTCTCCCTGGAAGACCTCCCACCCTGTCCCCATGCCTCTGCTTCTCCCTC ACCCCAATTCCCCGCTGCCTTCTAGGATAAGTGTGAGCCACTGGAGAAGC AGCACGAGAAGGAGAGGAAACAGGAGGAGGGGGAATCCTAGCAGGACACA GCCTTGGATCAGGACAGAGACTTGGGGGCCATCCTGCCCCTCCAACCCGA CATGTGTACCTCAGCTTTTTCCCTCACTTGCATCAATAAAGCTTCTGTGT TTGGAACAGCTAAGCTGTTAGTCATTTGTTCATTCATTCATTCTGAAGCC TGCCCTGAGTTCAACCCTGGCTGGGCACTGGATAAGACGCTGTCCCTGGT GGGAAGAGCCCCACACGTGCCAGGATGGAGGATGACAGGCACCGAGTGCT GTGGGAGCCCAGCACTGTGGGAAGACATTTTCTTCTGCAGGGCGAAAATC TGGGAAGGCTTCCTAGAAGGGGCATCTGAACCAATCTAGAAAGATGAGGA GCATAATACAACCTGCTGTTCTGTGTACAATGTGTGATGATCAAATCGGG GTCATTTCCACCACCTCAAACATTTACCATTTCTTTGTGTTGGGAACATT ATCACACAGTTCCCCATAAATATGTACATTATGTGTCCATTTAAAACAAT ACAAGCAAACAAATGTGAATTTCTAAACTGAGACTACTGTAAGGCCTTTC TCCTAATAGCAAGATTGTAATAAAACTTCAACTAGTCATAAAAAAAAATC CTTTTCTGTTTCTGCTGCAAGCAAGGAAATGAGAGGATGCATTTGAGTAA CCTTGAGGCAGAAGACCCTAAACAGGAGTGGAGGTGTGATATTGTTTGGC TCTGTCCCCACCCGAATCTCACATGGAATTTTCAGCCCCATGTGTTGGAG GCGGGTCCTGCTGGGAGGTGATTGTATCACGGGGCTGGTTTCTAATGGTT TAGCCCCACCTCCCAGGTGCTGTTTCTCACAAGGTCTCATTGTTTAAAAG TGTGTAGCACCTCCCCCTTCGCTCTGTCTCTCCTGCTGTCTTGTGAAGAA GGGACTTGCTTCCTCTTTGCCTTCCACCATGATTGTAAGTTTCCTGAGGC CTCCCAGCCATGCTTCCTCTGAAGCCTGCGGAACTGTGAGTCAATTAAAC CTCTTTTTTTCATAAACTACCCAGTCTCAGGTAGTTCTTTATAGCAATGT GAGAACAGACAAATACAAGGTGGATGGGGTGGGGAGAGTTCAGGCATGTG GTGCCTATCACAAGGACCTTATTCCAGTATTACCATGGCCATCGGGGGAG GCACGTTGTGGGGACCAGGCTGGAGGCAGGAAGGCCTGAGTGAAGGCTGC TGTGGGCAACTAGGCAAGAGGCGGTTGCCTGGGCCAGGACAGGGCAGGGC AGGGAAGGGCTGGGGTGATGCAGAGGGCTTGGGGCCCAGGCCAGAGGGGC TGGGTGTCTCCATGGACGTGTCCTCAGGGTGCTCACCTGGGAGACCCAGA AGAAGGAGACAACACGTAAGGGTGAGGCTGGTCCCTGGAAATCAGTTGAC ATCTTGCAAATGTGGAGCCCTGAGGTGGAGCCAAGCCCGAGGCACAGCCC ACTCAGTGGCACAAGCCACGAAGGGCCGGCCTCACCCAGACCTGGGGGCT CATGATTGACAGCCTCTTGTTACGTGAGGGAAGCAGCACTCCTCCCGTGG CAGAAAAGTTGGGCCTGAGTTGTTCCATCTATTCCGTATGTGCAGCTGCG TACACCATACAGGGTGATAAGACCATGAGCCTGAGGCTCTGACACCCCAG GGTCCAGTCCTGTGTCCTCAGGCACCACTCCCCTTTGTACCTCCTGTCCC AACAGCCAAGCTCCACAGGGCCAAGACTACAGCATCCTTTGCTCAGCACC CAAACCACTGCTGTGCCCACAGCACGGAGGCTGGGGACACCGAGCTGATG TCCTCAGAAGGCAAGTGGACAGGACAGCCTCTGGGGTCCCACAGTGGCCT GGAACTGAAGGCTCAGAACCTAAAAGAAGTTTCCCCATTTCAATGTTACT TTCAGTAAGACACCATTTTCAACCATACTGAGGAGGATCCGCTGAAAAAT GAAACAGAAATGAGTCGTGATGGGCAGGGCAGGGAGAAGCAAGGGAGACG AGAAGTGGGGAACATGGAAGGAAAAGCCACGTGAGGAAGAAACCAGAGGT CAAGAGAAAAAGAATCATGGAGGTAGAGGAAGCAAAAAACACACATAACA AAGAATGTGGACTTTGGAGTCAAACTAATGTGAGTCCAAACCCAGGCTCT CTCCCAAACCAGTTTGGGCAGATGGCCCAGTGGAACCTCACTCTCCTCAT CAGTAAAAAGGGGGCAGAGTGAGGGTCCTGAGAGCTAGTACAGGGACTGT GTGAAGTAGACAATGCCCAGTGTTTAGCGTAAGAATCAGGGTCCAGCTGG TGCTCCCTAAACAGCAGCTGCTGTTCACTGTTGAAAGGCGCTCTGGAAGG CCAGGCGCGGTGGCTCATGCTTGTAATCCCAGCACTGTGGGAGGCCGAGG TGGGCGGATCACCTGAGGTAGGGAGTTCGAGACCAGCCTGACCAACGTGG AGAAACCCCATCTCTCCTAAAAATACAAAATTAGCCAGGCGTGGTAGCAC ATACCTGTAATCCCAGCGACTCGGGAGGCTGAGGCAAGAGAATTGCTTGA AACCAGCAGGGGAGGTTGTGGTGAGCCAAGATCGAGCCATTGCACTCCAG CCTGGGCAACAAGAGCAAAATGGCGAAACTCCATCTCCGAGAAAAAAAAA AAAAAGAATACTTTCTGAAAGTATTTATTCATACAAATAAAGACTTGACC CATAAGGTAGGAACGCAAATGGGCCACGGAATCACTCATTCCACAGTATA CACCGAGTGCCCTTGAAGTGCTGGGCACTGCTCCAGGATTGGGGGCATAT TGGTGAAAGAGAAGCAAGCTGCCTGCTCAGATGGCAGGGAATGGGGAAAA ACAGGGAGACAGTTTCCTGTTTGAGATGTTGGGAGATGCTTCGAGTAGTA TATTTACTGGAAATAGACATTCAACTTGGATGTCCCTTTTTGGAAATGTG CCTGCGTCCAGGGCTGGGTTGGGGCCCCAATGAACTTTGGCTCTGACATA GCTGTTGCCACACTCAGTGGAACTGAATCCATGTTTGCCTTCACCCGGCA TCCTTCACCCCAACTCTCCCCGCCACAACATACATCCCATGCCAGCCTGG GGACCCTCAAAGGTGCTTCATCATTAGGTTTGTGGCTGGGTCCTACTGAA GTAAGTCTTGGCACTCAGAGGGATAGGAATTGAATGAAGACATGAGATTC CTCTGCGGGAGGCCTCTCTAGGAAATCTGTGGACTCACACGTTTACTAAT GTTGCTGCAGCCCCGCACCCACCTTGGCCTTGGGCAGCCATACTCTAGGG CTTTTGTAACCTCTCCATGTGAGGAACTCAAATTAGACCTGGGTTTGGAG GCGGTGCTCCGAGCTGGCCTTTGGGGGAGGTTTTGTGCGAGGCATTTCCC AAGTGCTGGCAGGATTGTGTCACAGACACAGAGTAAACTTTTGCTGGGCT CCAAGTGACCGCCCATAGTTTATTATAAAGGTGACTGCACCCTGCAGCCA CCAGCACTGCCTGGCTCCACGTGCCTCCTGGTCTCAGTATGGCGCTGTCC TGGGTTCTTACAGTCCTGAGCCTCCTACCTCTGCTGGAAGCCCAGATCCC ATTGTGTGCCAACCTAGTACCGGTGCCCATCACCAACGCCACCCTGGACC GGGTGAGTGCCTGGGCTAGCCCTGTCCTGAGCACATGGGCAGCTGCCTCC CTTCTCTGGGCTTCCCTTTACCTGCTGGCTGTGGTCGCACCCCCACTCCC AGCTCTGCCTTTTTCTCTTCTGGGTCCCCAGGGTGAAATTCTCACCAGCC CAGGGGACTCTGGAGGCACCCCCTGCCTCCAAACACAGAAGCCTCACTGC AGAGTCCTTCACGGAGGACGGTTCTGTGCTGGGCCTGGAGGGGCTGCCTG GGGGGCAATGACTGATCCTCAGGGTGAGCTCCTGCATGCGCACTGCCCAC CAGGGGCCTCATCTCCCCATCTGCAAAATCAGGGAGAGATCTGCCTGAGT CTCCTCCCAGCTGACAGTCAAAGATTCAGCATCAAGCCCCCATCACCAGC TCCCCCCTTCTCCCCAGATCACTGGCAAGTGGTTTTATATCGCATCGGCC TTTCGAAACGAGGAGTACAATAAGTCGGTTCAGGAGATCCAAGCAACCTT CTTTTACTTTACCCCCAACAAGACAGAGGACACGATCTTTCTCAGAGAGT ACCAGACCCGGTGAGAGCCCCCATTCCAATGCACCCCCATCTCAGCTTCT GGCCAGAAGACCTGAGCAAGTCCCTCCTTCTTCCTGGCCTTGGCCTTCCC ATGGGTGGAACCGGGAGGGTTGGCTTTAATCTCCACCAGACTCTTGCCCC GGGACTGTGATGGGCGATTGGCCACTTCTCCTCGATAACATTACTGTTTT TCTTCCGCCTTCTGGTTGACTTTAGCCAGAACCAGTGCTTCTATAACTCC AGTTACCTGAATGTCCAGCGGGAGAATGGGACCGTCTCCAGATACGGTGA GGGCCAGCCCTCAGGCAGGAGGGTTCACCGTGGGAACAGGGCAGGCCAGC ATAAGGTGGGGGCTGGATGTAGAGCCCTGGAGGCTTTGGGCACAGAGAAA TAACCACTAACATTTTTGAGCTCTTACCACGTGCTCAGAAAAAATCCCTA AGAAGACACTGAGAGAATTAGATGAGGAAACATAAGAACAGAGACCTCAA ATAGTTTCCCCAAGGTCACACAGCTTATAATTAGAACTAGAATTGGAACT CCAGGCTGGCTTCAGATCTGCCTCTCTCTCACGCCCTCTTTAAGATCCTT TGCAAACCAATGGTAGAAGCCTGTATGTTGGAGAGGTGGTACCTTCAACT ATGTCCCCCATCACCGCAGAGGTGGCACATGGCAGGGATCTGATGGAGCT GAACTGACATCATTTAGCATCCCGAGCCTCCTCTCTGGGCCTCATTTTCC TCCTCTGTAAAACGGGGAGAAAGGCCCTGACAGCCACAGTCTGTGTGAGG CTCCTGAGATCTCATGTACAGAAAGTGCTTGGCGTGGAGCTGGGCACGCA GCAGGGGCTGGGCACACGGTGGCCCAAAGGAGACCCGGGCCTTCACTGAT GGGCTTTGTGGCC	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02572.hp1 HG02572.hp1	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0004 a0000c0014t0004	a0000c0014t0004g0054 a0000c0014t0004g0054	1	464	0.0022	-5562	c.541 others(13): Show c.541-374_*5122del		ORM1	ENSG00000229314.6	transcript	ENST00000259396.9	protein_coding	6/6						chr9	TogoVar

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Search Results (Total: 1040 hits)