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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NUPR2_chr7_56109681_56121417	56115625	T T	TATATATA others(46): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	448	0.0022	53	c.6+ others(66): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATATATATATATAT		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar
NUTM2F_chr9_94313198_94333644	94313364	A A	ATAAAATA others(46): Show ATAAAATATAATATATTATATATAATAAAATATATTATATTATATAAAAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	322	0.0031	53	c.51 others(64): Show c.5100_*5101insATATATTTTATATAATATAATATATTTTATTATA TATAATATATTATATTTTA		NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding					4833		chr9	TogoVar
NUTM2F_chr9_94313198_94333644	94313364	A A	ATAAAATA others(46): Show ATAAAATATAATATATTATATTATATAAAATATATTATATTATATAAAAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp2 others(64): Show HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18943.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19058.hp1 NA19063.hp1 NA19076.hp2 NA19081.hp1 NA19085.hp1 NA20752.hp1 NA20905.hp1	a0001 a0006 a0010 others(2): Show a0001 a0006 a0010 a0018 a0019	a0001c0001 a0001c0018 a0006c0006 others(3): Show a0001c0001 a0001c0018 a0006c0006 a0010c0011 a0018c0022 a0019c0021	a0001c0001t0001 a0001c0018t0001 a0006c0006t0001 others(3): Show a0001c0001t0001 a0001c0018t0001 a0006c0006t0001 a0010c0011t0001 a0018c0022t0001 a0019c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0018t0001g0046 a0006c0006t0001g0032 a0006c0006t0001g0075 a0006c0006t0001g0081 a0010c0011t0001g0014 a0018c0022t0001g0055 a0019c0021t0001g0058	67	322	0.2081	53	c.51 others(64): Show c.5100_*5101insATATATTTTATATAATATAATATATTTTATATAA TATAATATATTATATTTTA		NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding					4833		chr9	TogoVar
NVL_chr1_224222345_224335172	224311544	T T	TATTTTTT others(46): Show TATTTTTTGTAGAGACAAGGTTTCACCATGTTGGCCAGACTTATTTTTTC ATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0238 a0001c0003t0002g0238	1	284	0.0035	53	c.342 others(68): Show c.342+255_342+256insGTATGAAAAAATAAGTCTGGCCAACATGGT GAAACCTTGTCTCTACAAAAAAT		NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	5/22						chr1	TogoVar
NXN_chr17_794310_984776	979234	A A	AGGGCAGG others(46): Show AGGGCAGGGGTAACGGGGGTGGGGGGGCGGGCAGGGGTAACGGGCGTGGG GGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	242	0.0041	53	c.360 others(66): Show c.360+84_360+85insGCCCCCCACGCCCGTTACCCCTGCCCGCCCCC CCACCCCCGTTACCCCTGCCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
ODF2L_chr1_86341837_86401323	86400754	T T	TGTTCTTT others(46): Show TGTTCTTTTTTTTTTGAGATTGAGATTCATCCATGTTGTTGCATAGTTTA GTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	406	0.0025	53	c.-47 others(64): Show c.-4782_-4781insCTACTAAACTATGCAACAACATGGATGAATCTCA ATCTCAAAAAAAAAAGAAC		ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding					4432		chr1	TogoVar
OLFML2B_chr1_161978192_162028869	162028737	C C	CCCTGCAT others(46): Show CCCTGCATCTTTTGCTCAGAGTAGAGGAAACCGGCATAAAATTCACATAA AAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0145 a0001c0002t0004g0145	1	384	0.0026	53	c.-53 others(64): Show c.-5308_-5307insATTTTTATGTGAATTTTATGCCGGTTTCCTCTAC TCTGAGCAAAAGATGCAGG		OLFML2B	ENSG00000162745.11	transcript	ENST00000294794.8	protein_coding					4869		chr1	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(46): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	384	0.0026	53	c.121 others(72): Show c.1215+8988_1215+8989insTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCC		OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8						chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(46): Show GAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAG AGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	384	0.0026	53	c.121 others(72): Show c.1215+8983_1215+8984insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCTCTCCCCTCTCCCCT		OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8						chr1	TogoVar
OPN5_chr6_47777032_47831381	47819336	A A	AATATATA others(46): Show AATATATATATATATATATATATATATATATATATATATATATATAAAAT ATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0161 a0001c0001t0016g0161	1	322	0.0031	53	c.105 others(72): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TAAAATATATATATATATATATATATA		OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
OR11H4_chr14_20234286_20249349	20237995	T T	TATATATT others(46): Show TATATATTATATATTATATATAATACATATTATATATATTATATATTATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	439	0.0023	53	c.-13 others(64): Show c.-1348_-1347insATATATTATATATTATATATAATACATATTATAT ATATTATATATTATATATA		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1290		chr14	TogoVar
OR13D1_chr9_104689518_104700462	104696107	A A	AGAAAGAA others(46): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	396	0.0025	53	c.64 others(62): Show c.645_*646insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding					646		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696126	A A	AGGAAGGA others(46): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0000 a0007c0007t0000	a0007c0007t0000g0000 a0007c0007t0000g0000	2	396	0.0051	53	c.66 others(62): Show c.664_*665insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAG		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding					665		chr9	TogoVar
OR1E1_chr17_3392104_3403410	3399258	G G	GAAGGAAG others(46): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGAA AGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	380	0.0026	53	c.-84 others(62): Show c.-849_-848insTCCTTTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTT		OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding					849		chr17	TogoVar
OR1L8_chr9_122562117_122588384	122569487	A A	ATTTTTTT others(46): Show ATTTTTTTGCAATTAAAGTTTTTGAGTAAGCATATTCATTCATACCTTGT GAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(261): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0006 a0006c0008 a0001c0001 a0005c0006 a0006c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0005c0006t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0006g0011 a0001c0001t0006g0038 a0001c0001t0006g0047 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0171 a0001c0001t0013g0061 a0001c0001t0013g0062 a0001c0001t0014g0057 a0001c0001t0014g0060 a0001c0001t0019g0180 a0001c0001t0023g0116 a0001c0001t0024g0096 a0005c0006t0001g0015 a0005c0006t0001g0050 a0005c0006t0001g0212 a0006c0008t0001g0078 a0006c0008t0001g0088 a0006c0008t0001g0093	264	436	0.6055	53	c.-21 others(70): Show c.-212-851_-212-799dupATTCACAAGGTATGAATGAATATGCTTA CTCAAAAACTTTAATTGCAAAAAAA		OR1L8	ENSG00000171496.5	transcript	ENST00000641027.1	protein_coding	4/4						chr9	TogoVar
OR2T12_chr1_248285139_248308424	248306608	C C	CGCCCTGA others(46): Show CGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(69): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01106.hp1 HG01255.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18948.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18978.hp1 NA18981.hp1 NA18985.hp2 NA18995.hp2 NA19006.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19084.hp1 NA20752.hp1	a0002 a0008 a0014 others(2): Show a0002 a0008 a0014 a0015 a0021	a0002c0002 a0002c0032 a0002c0033 others(4): Show a0002c0002 a0002c0032 a0002c0033 a0008c0017 a0014c0016 a0015c0015 a0021c0023	a0002c0002t0002 a0002c0002t0026 a0002c0002t0037 others(7): Show a0002c0002t0002 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0002c0032t0002 a0002c0033t0002 a0008c0017t0016 a0014c0016t0010 a0015c0015t0001 a0021c0023t0035	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0011 others(15): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0082 a0002c0002t0002g0116 a0002c0002t0026g0075 a0002c0002t0037g0083 a0002c0002t0038g0084 a0002c0032t0002g0077 a0002c0033t0002g0078 a0008c0017t0016g0033 a0014c0016t0010g0022 a0015c0015t0001g0119 a0021c0023t0035g0070	72	406	0.1773	53	c.-34 others(64): Show c.-3453_-3452insCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGG CGGCTCCTGTCCTCAGGGC		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3185		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408286	C C	CGGGAGTT others(46): Show CGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGG TCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	266	0.0075	53	c.11 others(64): Show c.1182_*1183insGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTA GATAGTGGCAGATGGTCAT		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					267		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408287	G G	GGGAGTTT others(46): Show GGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGT CATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(84): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02451.hp2 HG02559.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03225.hp2 HG03492.hp2 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0006t0001 a0001c0009t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0003g0056 a0001c0001t0011g0154 a0001c0001t0013g0145 a0001c0001t0014g0127 a0001c0001t0015g0035 a0001c0006t0001g0001 a0001c0009t0001g0130 a0007c0007t0001g0028	87	266	0.3271	53	c.11 others(64): Show c.1183_*1184insGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAG ATAGTGGCAGATGGTCATA		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					268		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408307	C C	CGCATTTG others(46): Show CGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	266	0.0038	53	c.12 others(64): Show c.1203_*1204insGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGA		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					288		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408446	G G	GGGAGTTT others(46): Show GGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGT CATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG01934.hp2 others(21): Show HG00597.hp1 HG00621.hp1 HG01934.hp2 HG02015.hp2 HG02080.hp1 HG02523.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 NA18941.hp2 NA18944.hp1 NA18957.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0004 a0001c0001 a0001c0008 a0004c0004	a0001c0001t0004 a0001c0008t0004 a0004c0004t0004 a0001c0001t0004 a0001c0008t0004 a0004c0004t0004	a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0004g0019 others(15): Show a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0062 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0004g0088 a0001c0001t0004g0171 a0001c0008t0004g0004 a0004c0004t0004g0004 a0004c0004t0004g0076 a0004c0004t0004g0080	24	266	0.0902	53	c.13 others(64): Show c.1342_*1343insGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAG ATAGTGGCAGATGGTCATA		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					427		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408531	T T	TAGATAGC others(46): Show TAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGA CTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	266	0.0038	53	c.14 others(64): Show c.1427_*1428insAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGC		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					512		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408625	C C	CGCATTTG others(46): Show CGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTAGGGC TAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	266	0.0038	53	c.15 others(64): Show c.1521_*1522insGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTAGGGCTAGA		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					606		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408657	C C	CGGGAGTT others(46): Show CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGG TCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	266	0.0038	53	c.15 others(64): Show c.1553_*1554insGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCA GATAGCGGCAGATGGTCAT		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					638		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408784	A A	AGCATTTG others(46): Show AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	266	0.0038	53	c.16 others(64): Show c.1680_*1681insGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGC		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					765		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408869	C C	CGGGAGTT others(46): Show CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	266	0.0038	53	c.17 others(64): Show c.1765_*1766insGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTA GATAGTGGCAGATGGTCAT		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					850		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248409044	G G	GCTAGAGC others(46): Show GCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCT TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	266	0.0038	53	c.19 others(64): Show c.1940_*1941insCTAGAGCATTTGACTGTAGATAGTGGCAGATGGT CACGGGAGTTTAGCTTGGA		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					1025		chr1	TogoVar
OR2T2_chr1_248440637_248460725	248453739	C C	CATCAGGG others(46): Show CATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGA GAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0036 a0013c0018t0036	a0013c0018t0036g0092 a0013c0018t0036g0092	1	329	0.0030	53	c.951 others(60): Show c.951_952insATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCA GAGAGTATCAGGGTG	p.Ala others(5): Show p.Ala318fs	OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding	4/4	1429/3405	952/975	318/324		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T2_chr1_248440637_248460725	248453739	C C	CATCAGGG others(46): Show CATCAGGGTGGCGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGA GAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02258.hp2 HG02258.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0017 a0012c0019t0017	a0012c0019t0017g0128 a0012c0019t0017g0128	1	329	0.0030	53	c.960 others(60): Show c.960_961insTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGTATC AGGGTGGCGACTGTG	p.Ile others(5): Show p.Ile321fs	OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding	4/4	1438/3405	961/975	321/324		INFO_REALIGN_3_PRIME	chr1	TogoVar
ORAI2_chr7_102428575_102461825	102430640	A A	AAGGGAAG others(46): Show AAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGGAGGGAAGGGAAGAGA AGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	404	0.0025	53	c.-31 others(64): Show c.-3144_-3143insAGGGAAGGAAGGAACGAAGGAAGGAAAGGAAGGG AGGGAAGGGAAGAGAAGGG		ORAI2	ENSG00000160991.17	transcript	ENST00000495936.7	protein_coding					2934		chr7	TogoVar
ORAI2_chr7_102428575_102461825	102430723	A A	AGGGAGGG others(46): Show AGGGAGGGAAGGGAGAGAAGGGAGGGAAGGAAGGAACGAAGGAAGGAAAG GAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	404	0.0025	53	c.-30 others(64): Show c.-3061_-3060insGGGAGGGAAGGGAGAGAAGGGAGGGAAGGAAGGA ACGAAGGAAGGAAAGGAAG		ORAI2	ENSG00000160991.17	transcript	ENST00000495936.7	protein_coding					2851		chr7	TogoVar
OTUD7A_chr15_31470398_31875673	31753704	A A	ATATATAT others(46): Show ATATATATATATATATTATATATATATATATATATTATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0147 a0001c0001t0007g0147	1	244	0.0041	53	c.-99 others(72): Show c.-99-96628_-99-96627insATATATATATATATATATAATATATA TATATATATATAATATATATATATATA		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12						chr15	TogoVar
OXSR1_chr3_38160537_38260484	38161552	T T	TATGTATA others(46): Show TATGTATATTTCATATACATATGTCATATATTATGTATATTTCATATACA TATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03139.hp2 HG02622.hp2 HG02717.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0105	3	248	0.0121	53	c.-43 others(64): Show c.-4325_-4324insATGTATATTTCATATACATATGTCATATATTATG TATATTTCATATACATATG		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3984		chr3	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0335 a0001c0003t0001g0335	1	388	0.0026	53	c.134 others(70): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTT		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3680630	C C	CCAGCGTC others(46): Show CCAGCGTCCTCCACCCGGCGTCCTCCACCCTGCTTCCTCCACCCGGCTTC CTCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	362	0.0028	53	c.106 others(70): Show c.1065-847_1065-846insAGAGGAAGCCGGGTGGAGGAAGCAGGGT GGAGGACGCCGGGTGGAGGACGCTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685849	C C	CCAGCCTC others(46): Show CCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCA ACGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG03669.hp2 others(4): Show HG00597.hp2 HG01109.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA19009.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0135 a0001c0001t0001g0268 a0001c0001t0001g0287 others(4): Show a0001c0001t0001g0135 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0002g0250 a0001c0001t0002g0273 a0002c0002t0001g0151	7	362	0.0193	53	c.981 others(70): Show c.981+2162_981+2163insACGTTGGGAGGGTCCCTGGGGGTCCCGC TGTGCGTTCTCCTGTTCTGAGGCTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX7_chr12_121127876_121193032	121130818	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03130.hp2 HG03453.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp2	a0005 a0011 a0005 a0011	a0005c0017 a0011c0011 a0005c0017 a0011c0011	a0005c0017t0005 a0011c0011t0005 a0005c0017t0005 a0011c0011t0005	a0005c0017t0005g0214 a0005c0017t0005g0216 a0011c0011t0005g0177 a0005c0017t0005g0214 a0005c0017t0005g0216 a0011c0011t0005g0177	3	366	0.0082	53	c.-21 others(64): Show c.-2153_-2152insAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding					2057		chr12	TogoVar
P2RY8_chrX_1457581_1542185	1468718	G G	GTCACTCT others(46): Show GTCACTCTCTCGCCTCTCTCCTAAGCAGAAAGGAAAGAAAGGCAAGTCTC CCTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	114	0.0088	53	c.-24 others(70): Show c.-24-2137_-24-2136insGAGGGAGACTTGCCTTTCTTTCCTTTCT GCTTAGGAGAGAGGCGAGAGAGTGA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468803	C C	CCCTCCCT others(46): Show CCCTCCCTCTCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCC CCTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	114	0.0088	53	c.-24 others(70): Show c.-24-2222_-24-2221insAAGGGGGGGAGGGGAGAGGGGAGAGGGA AGGGGAGGGGAGAGGGAGAGGGAGG		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PABPC3_chr13_25091136_25104254	25095989	A A	ACCCTGGC others(46): Show ACCCTGGCTCCCCGCCGGCAGCCGGCAGCCAGCGGCAGCGGATCGACCCC GTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01884.hp1 others(7): Show HG00738.hp2 HG01074.hp1 HG01884.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02809.hp1 HG02965.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0000 a0001c0002t0009g0000 a0001c0002t0002g0000 a0001c0002t0009g0000	10	458	0.0218	53	c.-21 others(62): Show c.-210_-209insCCCTGGCTCCCCGCCGGCAGCCGGCAGCCAGCGGCA GCGGATCGACCCCGTTC		PABPC3	ENSG00000151846.9	transcript	ENST00000281589.5	protein_coding					146		chr13	TogoVar
PACSIN2_chr22_42864773_43020149	42878858	C C	CCTGGGCC others(46): Show CCTGGGCCACGGCCCACAGAGCTCAAGAGCCCAGGAACCTCCCAGGTGTC CAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02280.hp1 others(10): Show HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(10): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0013g0130	13	294	0.0442	53	c.102 others(70): Show c.1028+189_1028+190insCCTGGACACCTGGGAGGTTCCTGGGCTC TTGAGCTCTGTGGGCCGTGGCCCAG		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	8/10						chr22	TogoVar
PAK2_chr3_196734857_196837647	196811324	T T	TTTCCTTC others(46): Show TTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCT TTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show HG00544.hp1 HG01070.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 NA18971.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0062 a0001c0003t0006 others(1): Show a0001c0001t0006 a0001c0001t0062 a0001c0003t0006 a0001c0003t0008	a0001c0001t0006g0062 a0001c0001t0062g0087 a0001c0003t0006g0015 others(8): Show a0001c0001t0006g0062 a0001c0001t0062g0087 a0001c0003t0006g0015 a0001c0003t0006g0066 a0001c0003t0006g0067 a0001c0003t0006g0069 a0001c0003t0006g0125 a0001c0003t0008g0028 a0001c0003t0008g0063 a0001c0003t0008g0064 a0001c0003t0008g0065	11	178	0.0618	53	c.773 others(68): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTTCCTTCCTTTCCT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109838880	A A	AAGGGGTT others(46): Show AAGGGGTTGGGGAAGGGAGAGGGGGGGGGGCAGGGAATCACTATCAGGGA GAGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0078 a0003c0003t0001g0078	1	222	0.0045	53	c.46- others(70): Show c.46-28608_46-28607insGGTTGGGGAAGGGAGAGGGGGGGGGGCA GGGAATCACTATCAGGGAGAGGAGG		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67280882	T T	TCCTTCCT others(46): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTTTTCTTTCT TTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0020 a0006c0005t0020	a0006c0005t0020g0289 a0006c0005t0020g0289	1	290	0.0035	53	c.367 others(70): Show c.367+1345_367+1346insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTTTTCTTTCTTTTC		PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14						chr14	TogoVar
PAM16_chr16_4335251_4356321	4344354	G G	GGAGGGGA others(46): Show GGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGTGAGAGGAGGGGGTTCT GTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	367	0.0027	53	c.4-1 others(66): Show c.4-1064_4-1063insACACAGAACCCCCTCCTCTCACACAGAACCCC CTCCTCTCACACAATCCCCTC		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PARD3B_chr2_204540475_205625162	205489551	T T	TATATATA others(46): Show TATATATACGTATATATATGGCATATATATGTATATATATACGTATATAT ATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0051 a0001c0004t0021g0051	1	54	0.0185	53	c.304 others(74): Show c.3045-10337_3045-10336insGTATATATATGGCATATATATGTA TATATATACGTATATATATACATATATAC		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PCDH11X_chrX_91774375_92628230	92331291	C C	CTTCTTCT others(46): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18955.hp1 NA18959.hp1 others(2): Show NA18944.hp1 NA18955.hp1 NA18959.hp1 NA19068.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0002	a0001c0001t0001g0039 a0001c0001t0001g0129 a0001c0001t0002g0078 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0129 a0001c0001t0002g0078 a0001c0001t0003g0101 a0001c0008t0002g0038	5	154	0.0325	53	c.314 others(74): Show c.3145-56417_3145-56416insTTCTTCTTCTTCTTCTTCTTCTTC TTTTCTTCTTCTTCTTCTTCTTCTTCTTC		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92411956	A A	AGGAGGAG others(46): Show AGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGGAGGAGGAGG AGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18959.hp1 HG01256.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0091 a0001c0008t0002g0038 a0001c0001t0002g0091 a0001c0008t0002g0038	2	154	0.0130	53	c.334 others(74): Show c.3343+24031_3343+24032insGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGGAGGAGGAGGAGGGGGAGGAGG		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92411956	A A	AGGAGGAG others(46): Show AGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18990.hp1 HG01515.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0036 a0001c0001t0004g0116 a0001c0001t0003g0036 a0001c0001t0004g0116	2	154	0.0130	53	c.334 others(74): Show c.3343+24031_3343+24032insGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGG		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	758668	G G	GTCTTTCT others(46): Show GTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTC CGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00673.hp2 others(61): Show HG00140.hp2 HG00544.hp1 HG00673.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01361.hp2 HG01517.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0002c0002t0001 a0002c0002t0007 a0002c0002t0037 a0002c0002t0043 a0002c0002t0049 a0003c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0007g0002 a0001c0001t0007g0300 a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0001t0007g0309 a0001c0001t0007g0313 a0001c0001t0007g0364 a0001c0001t0009g0324 a0001c0001t0030g0088 a0001c0001t0039g0239 a0001c0001t0040g0190 a0001c0001t0041g0202 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0250 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0007g0049 a0002c0002t0007g0301 a0002c0002t0007g0303 a0002c0002t0007g0312 a0002c0002t0037g0317 a0002c0002t0043g0268 a0002c0002t0049g0030 a0003c0008t0001g0050	64	366	0.1749	53	c.463 others(70): Show c.463-2559_463-2558insTTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTCTTCTCCTTCCGGACTCCGG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758701	C C	CTTCTCCT others(46): Show CTTCTCCTTCCGGACTCCGGTTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp1 HG02257.hp2 others(3): Show HG01069.hp1 HG01255.hp1 HG02257.hp2 HG02451.hp1 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0036 a0001c0001t0011 a0001c0001t0036	a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0011g0111 others(3): Show a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0011g0111 a0001c0001t0011g0112 a0001c0001t0011g0333 a0001c0001t0036g0074	6	366	0.0164	53	c.463 others(70): Show c.463-2559_463-2558insTTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTGTTCTCCTTCCGGACTCCGG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar

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