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
NOS1_chr12_117203142_117366626	117322236	C C	CTCCCTCC others(42): Show CTCCCTCCTTCCTTCCCTCCCTCCTTTCCCTTCCTCTTTCCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01069.hp1 others(34): Show HG00558.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02622.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03139.hp2 HG04199.hp1 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0012c0018	a0001c0001t0025 a0001c0001t0032 a0001c0001t0061 others(24): Show a0001c0001t0025 a0001c0001t0032 a0001c0001t0061 a0001c0001t0102 a0001c0001t0123 a0001c0001t0128 a0001c0001t0175 a0001c0002t0158 a0001c0003t0001 a0001c0003t0152 a0001c0003t0156 a0001c0003t0162 a0001c0004t0005 a0001c0004t0034 a0001c0004t0133 a0001c0004t0134 a0001c0004t0135 a0001c0004t0136 a0001c0004t0138 a0001c0005t0003 a0001c0005t0010 a0001c0005t0028 a0001c0005t0030 a0001c0005t0085 a0001c0010t0088 a0001c0010t0089 a0012c0018t0003	a0001c0001t0025g0256 a0001c0001t0032g0095 a0001c0001t0061g0153 others(34): Show a0001c0001t0025g0256 a0001c0001t0032g0095 a0001c0001t0061g0153 a0001c0001t0102g0284 a0001c0001t0123g0170 a0001c0001t0128g0218 a0001c0001t0175g0283 a0001c0002t0158g0205 a0001c0003t0001g0272 a0001c0003t0152g0249 a0001c0003t0156g0202 a0001c0003t0162g0247 a0001c0004t0005g0232 a0001c0004t0005g0248 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0034g0266 a0001c0004t0034g0267 a0001c0004t0133g0277 a0001c0004t0134g0212 a0001c0004t0135g0235 a0001c0004t0136g0204 a0001c0004t0138g0223 a0001c0005t0003g0081 a0001c0005t0003g0135 a0001c0005t0003g0151 a0001c0005t0003g0155 a0001c0005t0010g0134 a0001c0005t0028g0090 a0001c0005t0028g0121 a0001c0005t0030g0115 a0001c0005t0030g0143 a0001c0005t0085g0128 a0001c0010t0088g0171 a0001c0010t0089g0288 a0012c0018t0003g0133	37	294	0.1259	49	c.725 others(66): Show c.725+8060_725+8108dupAGGAAGAAAGGAAAGAGGAAGGGAAAGG AGGGAGGGAAGGAAGGAGGGA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(42): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp1 HG01167.hp2 others(7): Show HG00423.hp1 HG01074.hp1 HG01167.hp2 HG01361.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp2 NA18943.hp2 NA18966.hp1 NA18982.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0060 a0001c0069 a0013c0065	a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 a0001c0007t0005 a0001c0008t0002 a0001c0011t0002 a0001c0060t0011 a0001c0069t0004 a0013c0065t0005	a0001c0001t0003g0003 a0001c0001t0004g0174 a0001c0004t0006g0147 others(6): Show a0001c0001t0003g0003 a0001c0001t0004g0174 a0001c0004t0006g0147 a0001c0007t0005g0062 a0001c0008t0002g0121 a0001c0011t0002g0073 a0001c0060t0011g0120 a0001c0069t0004g0112 a0013c0065t0005g0110	10	324	0.0309	49	c.140 others(66): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCGAC CCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(42): Show AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTCGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0005 a0001c0062t0005	a0001c0062t0005g0116 a0001c0062t0005g0116	1	324	0.0031	49	c.140 others(66): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535891	A A	AGGGGGGA others(42): Show AGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	324	0.0031	49	c.140 others(66): Show c.140+8132_140+8133insCACCCACCATGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535983	T T	TGGTGGGT others(42): Show TGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0113 a0001c0012t0002g0113	1	324	0.0031	49	c.140 others(66): Show c.140+8040_140+8041insCTGCACCCATTGCCCCAGGAGGGATCCT GAGTGCTCCCCCCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTUM_chr17_81947507_81966187	81952445	A A	AGAGGAGG others(42): Show AGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	384	0.0026	49	c.51 others(58): Show c.515_*516insCCTCCCCTCCTCCTCTCCCTCCCCTCCTCCTCTCCC TCCCCTCCTCCTC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		61		chr17	TogoVar
NOVA1_chr14_26438090_26603033	26527089	A A	ACTGTTTA others(42): Show ACTGTTTAAAACTGTGCATGGAAAAGAGAACTCTGCTCACTAGGTGAAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(80): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01257.hp1 HG01261.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA19000.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 others(80): Show a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0125 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0227 a0001c0001t0006g0021 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0032 a0001c0001t0006g0037 a0001c0001t0007g0199 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0009g0022 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0009g0031 a0001c0001t0009g0039 a0001c0001t0010g0198 a0001c0001t0010g0200 a0001c0001t0010g0210 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0012g0057 a0001c0001t0012g0058 a0001c0001t0014g0010 a0001c0001t0014g0038 a0001c0001t0015g0191 a0001c0001t0018g0001 a0001c0001t0021g0023 a0001c0001t0024g0114 a0001c0001t0026g0094 a0001c0001t0030g0110	83	244	0.3402	49	c.281 others(68): Show c.281-46995_281-46947dupACTTCACCTAGTGAGCAGAGTTCTCT TTTCCATGCACAGTTTTAAACAG	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NOX1_chrX_100838324_100879359	100853294	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	302	0.0033	49	c.805 others(66): Show c.805-1970_805-1969insAGAAAGAAAGAAAGAAAGAAAGAGAAAG AGAGAGAAAGAAAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NPAS1_chr19_47014837_47050775	47049884	G G	GTGGCTAT others(42): Show GTGGCTATCGTTAACCCTGGTGCGATTCTCTTCTCTTCTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	418	0.0024	49	c.42 others(60): Show c.4233_*4234insTGGCTATCGTTAACCCTGGTGCGATTCTCTTCTC TTCTTTTTTTTGTTT	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding		4110		chr19	TogoVar
NPAS2_chr2_100815139_101001829	100932597	A A	ACCTAATT others(42): Show ACCTAATTCCAACTGTTGACGATGGAGTTCGTCATGTAGACATTCAGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp2 HG02572.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0002 a0001c0002t0001 a0001c0016t0002	a0001c0002t0001g0178 a0001c0016t0002g0124 a0001c0002t0001g0178 a0001c0016t0002g0124	2	288	0.0069	49	c.182 others(64): Show c.182-311_182-263dupCTAATTCCAACTGTTGACGATGGAGTTCGT CATGTAGACATTCAGGGCC	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPBWR2_chr20_64098802_64112565	64104778	C C	CAGGGGAG others(42): Show CAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCCACAGCAGGGGAGTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03688.hp1 NA20905.hp2 HG02735.hp1 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0077 a0001c0002t0015 a0001c0002t0052 a0001c0001t0077 a0001c0002t0015 a0001c0002t0052	a0001c0001t0077g0110 a0001c0002t0015g0014 a0001c0002t0052g0056 a0001c0001t0077g0110 a0001c0002t0015g0014 a0001c0002t0052g0056	3	355	0.0085	49	c.10 others(60): Show c.1051_*1052insATACTCCCCTGCTGTGGCCGACGGTCCTCTCCAT GGCCTGTGCTCCCCT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	1051		chr20	TogoVar
NPHP4_chr1_5857811_5997425	5884448	G G	GACAACCA others(42): Show GACAACCAAGATCACTGCCCAAGCTCCCAGCCGAGCCCCCGTCCTACTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG03098.hp2 HG02647.hp1 HG02896.hp1 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136	3	208	0.0144	49	c.248 others(68): Show c.2485+2789_2485+2837dupGGAGTAGGACGGGGGCTCGGCTGGGA GCTTGGGCAGTGATCTTGGTTGT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988744	G G	GCCTTGGC others(42): Show GCCTTGGCCCAGGGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show HG03041.hp2 HG03130.hp1 NA18522.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(2): Show a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142	5	208	0.0240	49	c.-38 others(66): Show c.-38-2466_-38-2418dupATGCAGCGTCTGGGTGCACTGTGGGTGG AGGCGGGACCCTGGGCCAAGG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988805	G G	GGTCCCGC others(42): Show GGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCATCCTTGGCCCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0005 a0010c0022t0005	a0010c0022t0005g0207 a0010c0022t0005g0207	1	208	0.0048	49	c.-38 others(66): Show c.-38-2479_-38-2478insTCTGGGCCAAGGATGCAGCGTCTGGGTG CACTGTGGGTGGAGGCGGGAC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377817	C C	CCCCCTCC others(42): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0068 a0006c0006t0006g0068	1	261	0.0038	49	c.-22 others(63): Show c.-22-130_-22-82dupTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR2E1_chr6_108161022_108193805	108193678	A A	AACAACAA others(42): Show AACAACAACAACGGAGGAGGAGGAAAAGAGAGAGATACACTAGATCGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	392	0.0026	49	c.62 others(60): Show c.6215_*6216insACAACAACAACGGAGGAGGAGGAAAAGAGAGAGA TACACTAGATCGCGT	NR2E1	ENSG00000112333.12	transcript	ENST00000368986.9	protein_coding		4874		chr6	TogoVar
NRIP1_chr21_14956235_15070000	15031239	G G	GCACGGAG others(42): Show GCACGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19007.hp2 NA19068.hp2 others(1): Show HG01255.hp1 NA19007.hp2 NA19068.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0012 a0002c0003t0003 a0001c0001t0012 a0002c0003t0003	a0001c0001t0012g0078 a0001c0001t0012g0108 a0001c0001t0012g0112 others(1): Show a0001c0001t0012g0078 a0001c0001t0012g0108 a0001c0001t0012g0112 a0002c0003t0003g0109	4	398	0.0101	49	c.-45 others(70): Show c.-458+12255_-458+12256insGCCTTCCAGAGTGTACACACATAG AAAGGGAATGTGGTGATCCTCCGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031899	T T	TCACCACA others(42): Show TCACCACATTCCCTTTCTATGTGTATACACTCTGAAAGGTGCTCAAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0206 a0001c0001t0036g0207 a0001c0001t0001g0206 a0001c0001t0036g0207	2	398	0.0050	49	c.-45 others(70): Show c.-458+11547_-458+11595dupTCCTTTGAGCACCTTTCAGAGTGT ATACACATAGAAAGGGAATGTGGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP3_chr11_8975576_9009001	8978803	G G	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0151 a0001c0001t0044g0151	1	406	0.0025	49	c.47 others(60): Show c.4741_*4742insTGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGG	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1772		chr11	TogoVar
NRSN1_chr6_24121215_24152530	24150886	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	406	0.0025	49	c.49 others(60): Show c.4940_*4941insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3357		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(42): Show CACATTTTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 NA19030.hp1 others(1): Show HG02559.hp2 HG03139.hp2 NA19030.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0016 a0001c0002t0005 a0001c0001t0013 a0001c0001t0016 a0001c0002t0005	a0001c0001t0013g0081 a0001c0001t0016g0021 a0001c0002t0005g0077 others(1): Show a0001c0001t0013g0081 a0001c0001t0016g0021 a0001c0002t0005g0077 a0001c0002t0005g0083	4	116	0.0345	49	c.336 others(70): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATATATATATATAAAATGT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(42): Show AAAGAAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0042 a0001c0003t0014g0042	1	116	0.0086	49	c.336 others(70): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTCTTTCTTTTCTTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA21309.hp1 NA18950.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0030 a0001c0001t0010 a0001c0005t0030	a0001c0001t0010g0025 a0001c0005t0030g0016 a0001c0001t0010g0025 a0001c0005t0030g0016	2	116	0.0172	49	c.833 others(68): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03486.hp2 NA19012.hp2 HG01123.hp1 HG03486.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0008 a0001c0004t0007 a0001c0001t0003 a0001c0002t0008 a0001c0004t0007	a0001c0001t0003g0029 a0001c0002t0008g0078 a0001c0004t0007g0093 a0001c0001t0003g0029 a0001c0002t0008g0078 a0001c0004t0007g0093	3	116	0.0259	49	c.833 others(68): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0328 a0002c0002t0006g0328	1	346	0.0029	49	c.658 others(66): Show c.658-4615_658-4614insATATATATGTGTATATATATATATATAT ATATATATATATATATTTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NTM_chr11_131365615_132341822	131874030	A A	AATATAAT others(42): Show AATATAATATAATATTATATATATATATAATAATATAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	86	0.0116	49	c.83- others(66): Show c.83-37529_83-37528insATATAATATTATATATATATATAATAAT ATAATATAATATATATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131928562	A A	ATGGTCTC others(42): Show ATGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAACTCTGTTTGTTTTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG01515.hp2 others(2): Show HG00642.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005	a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0002t0002g0065 others(2): Show a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0002t0002g0065 a0001c0002t0005g0026 a0001c0002t0005g0039	5	86	0.0581	49	c.167 others(68): Show c.167+17048_167+17096dupCTGTTTGTTTTCTGTGGTCTCCCGTC TGTGTTTTGTCCCACTGCAAACT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132069964	T T	TAACATGT others(42): Show TAACATGTCAAACTGATGATCACAGGTTAGTTTACACGTCACACAGCCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	86	0.0116	49	c.168 others(68): Show c.168-76314_168-76313insTGTCAAACTGATGATCACAGGTTAGT TTACACGTCACACAGCCAAAACA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132069981	G G	GATCACAG others(42): Show GATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAAACTGACC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	86	0.0116	49	c.168 others(68): Show c.168-76287_168-76286insTACACGTCACACAGCCAAAACACGTC AAACTGACCATCACAGGTTAGTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTRK2_chr9_84664729_85032054	84797660	T T	TTATATAT others(42): Show TTATATATTATATATACTATAATATATATATTATATATACTATAATAATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	170	0.0059	49	c.139 others(70): Show c.1396+45589_1396+45590insACTATAATATATATATTATATATA CTATAATAATATATATATTATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT19_chr19_32686821_32718792	32709958	C C	CTTCTTCT others(42): Show CTTCTTCTTTTTCTTCCTTTTTCTTCTTCTTCCTCTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	406	0.0025	49	c.922 others(64): Show c.922+567_922+568insTCTTCTTTTTCTTCCTTTTTCTTCTTCTTC CTCTCTTTTCTTTTCTTTT	NUDT19	ENSG00000213965.4	transcript	ENST00000397061.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDT3_chr6_34274679_34397669	34366473	A A	AAGGGAGG others(42): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0090 a0001c0001t0060g0090	1	270	0.0037	49	c.100 others(68): Show c.100-24502_100-24501insCCCTCCCTCCCTCCCTCCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(42): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	338	0.0030	49	c.38 others(60): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP205_chr7_135552917_135653753	135570761	T T	TATTATAT others(42): Show TATTATATTAATATATTAATTATATTTATATATTATATTAATATATATTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG06807.hp1 HG00323.hp2 HG01074.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0165 a0001c0001t0001g0237 a0001c0001t0001g0131 a0001c0001t0001g0165 a0001c0001t0001g0237	3	352	0.0085	49	c.29- others(62): Show c.29-329_29-328insTAATTATATTTATATATTATATTAATATATAT TAATTATATTAATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUPR1_chr16_28527708_28543974	28542835	C C	CATGATCA others(42): Show CATGATCACAGGGCACTGTGCAAGGGGATAGGAGGAGACCTGCAAATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	368	0.0027	49	c.-39 others(60): Show c.-3929_-3928insTGCATTTGCAGGTCTCCTCCTATCCCCTTGCACA GTGCCCTGTGATCAT	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding		3862		chr16	TogoVar
NXN_chr17_794310_984776	844348	T T	TACGTCCC others(42): Show TACGTCCCGTCCTGCCCTCCTTAGCTGGAAGGTGGAGACCAGGCCATCAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	242	0.0041	49	c.361 others(68): Show c.361-18319_361-18271dupGTGATGGCCTGGTCTCCACCTTCCAG CTAAGGAGGGCAGGACGGGACGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFM3_chr1_101797560_102001926	101989594	T T	TTTACCCT others(42): Show TTTACCCTTCATATTATTTGCATGTTGAGTATAGAAAAGAAAAAAAATTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00741.hp2 others(25): Show HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01993.hp1 HG02129.hp2 HG02145.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02976.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA18968.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012	a0001c0001t0001g0068 a0001c0001t0001g0201 a0001c0001t0001g0202 others(25): Show a0001c0001t0001g0068 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0008g0227 a0001c0002t0001g0210 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0002g0203 a0001c0002t0012g0216	28	306	0.0915	49	c.69+ others(64): Show c.69+7105_69+7153dupTAATTTTTTTTCTTTTCTATACTCAACATG CAAATAATATGAAGGGTAA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	306	0.0033	49	c.69+ others(64): Show c.69+5731_69+5732insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518196	A A	AGGAGAGG others(42): Show AGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGACGGGAGACG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03927.hp2 NA19240.hp2 others(1): Show HG01257.hp2 HG03927.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0098 a0001c0002t0002g0101 others(1): Show a0001c0002t0002g0094 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0104	4	384	0.0104	49	c.121 others(68): Show c.1215+9064_1215+9065insCGTCTCCCGTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518196	A A	AGGAGAGG others(42): Show AGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGACGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18954.hp1 HG00733.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0088 a0001c0002t0002g0093	2	384	0.0052	49	c.121 others(68): Show c.1215+9064_1215+9065insCCTCTCCCGTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518196	A A	AGGAGAGG others(42): Show AGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	384	0.0026	49	c.121 others(68): Show c.1215+9016_1215+9064dupCCTCTCCCCTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OOSP1_chr11_59933432_59962480	59943930	A A	ACCCCCCC others(42): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	386	0.0026	49	c.258 others(64): Show c.258+902_258+903insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCC	OOSP1	ENSG00000284873.1	transcript	ENST00000646685.1	protein_coding	2/4			chr11	TogoVar
OPCML_chr11_132409981_133537501	132638163	C C	CTATATAT others(42): Show CTATATATATATATATATATATATATATATATATATACAGACTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0036 a0001c0001t0021g0036	1	68	0.0147	49	c.379 others(68): Show c.379+18923_379+18924insTATATATAGTCTGTATATATATATAT ATATATATATATATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPRL1_chr20_64075082_64105633	64104778	C C	CAGGGGAG others(42): Show CAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCCACAGCAGGGGAGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG02895.hp1 others(2): Show HG01167.hp1 HG02559.hp1 HG02895.hp1 HG04204.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0009 a0001c0001t0013 a0001c0003t0004 others(1): Show a0001c0001t0009 a0001c0001t0013 a0001c0003t0004 a0001c0007t0010	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0013g0056 others(2): Show a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0013g0056 a0001c0003t0004g0011 a0001c0007t0010g0052	5	66	0.0758	49	c.59 others(60): Show c.5979_*5980insAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCC ACAGCAGGGGAGTAT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4146		chr20	TogoVar
OPTC_chr1_203489153_203513949	203500074	T T	TCTACCAC others(42): Show TCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCACCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19070.hp1 NA18977.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	406	0.0049	49	c.732 others(64): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCC	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7			chr1	TogoVar
OR10H5_chr19_15782661_15805357	15801375	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0097 a0001c0002t0097	a0001c0002t0097g0013 a0001c0002t0097g0013	1	396	0.0025	49	c.63 others(60): Show c.6379_*6380insTATATATATATATATATATATATATATATATATA TATATATATATATAT	OR10H5	ENSG00000172519.10	transcript	ENST00000642092.2	protein_coding		1019		chr19	TogoVar
OR13D1_chr9_104689518_104700462	104696107	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 NA18993.hp1 NA19002.hp1 others(1): Show HG00280.hp2 NA18993.hp1 NA19002.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	4	396	0.0101	49	c.64 others(58): Show c.645_*646insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		646		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696151	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02622.hp1 HG02965.hp1 others(1): Show HG00735.hp2 HG02622.hp1 HG02965.hp1 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0000 a0004c0005t0000 a0001c0001t0000 a0004c0005t0000	a0001c0001t0000g0000 a0004c0005t0000g0000 a0001c0001t0000g0000 a0004c0005t0000g0000	4	396	0.0101	49	c.68 others(58): Show c.689_*690insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGA	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		690		chr9	TogoVar
OR1E1_chr17_3392104_3403410	3399258	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	380	0.0026	49	c.-84 others(58): Show c.-849_-848insTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTT	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		849		chr17	TogoVar
OR1S1_chr11_58207720_58221084	58220105	T T	TACAATGG others(42): Show TACAATGGATAAAGAAATTTGGTTAACAAATAGATATTAAAACCAAGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02145.hp2 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	2	460	0.0044	49	c.43 others(60): Show c.4383_*4384insACAATGGATAAAGAAATTTGGTTAACAAATAGAT ATTAAAACCAAGCTC	OR1S1	ENSG00000280204.4	transcript	ENST00000641544.1	protein_coding		4022		chr11	TogoVar

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