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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Select column to sort.

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Results per page.

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	status	chr	external
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(310): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02055.hp2 HG03540.hp2 NA21309.hp1 HG02055.hp2 HG03540.hp2 NA21309.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0004 a0016c0018t0002 a0016c0018t0004	a0016c0018t0002g0252 a0016c0018t0004g0043 a0016c0018t0002g0252 a0016c0018t0004g0043	3	476	0.0063	317	c.117 others(326): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCATCCATTCTT	p.Ile others(5): Show p.Ile394fs	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding	11/16	1262/1978	1179/1698	393/565		chr11	TogoVar
OXCT2_chr1_39764523_39776348	39770494	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01099.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp2 HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03239.hp1 HG03516.hp1 HG03831.hp1 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18962.hp1 NA18967.hp2 NA18978.hp2 NA18987.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0003 a0006 a0007 others(2): Show a0003 a0006 a0007 a0018 a0021	a0003c0004 a0003c0008 a0003c0012 others(5): Show a0003c0004 a0003c0008 a0003c0012 a0003c0013 a0006c0006 a0007c0014 a0018c0025 a0021c0016	a0003c0004t0004 a0003c0008t0001 a0003c0012t0004 others(5): Show a0003c0004t0004 a0003c0008t0001 a0003c0012t0004 a0003c0013t0004 a0006c0006t0004 a0007c0014t0001 a0018c0025t0004 a0021c0016t0001	a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 others(5): Show a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 a0003c0013t0004g0000 a0006c0006t0004g0000 a0007c0014t0001g0000 a0018c0025t0004g0000 a0021c0016t0001g0000	40	454	0.0881	-1	c.761 others(4): Show c.761delT	p.Phe others(5): Show p.Phe254fs	OXCT2	ENSG00000198754.5	transcript	ENST00000327582.5	protein_coding	1/1	854/1826	761/1554	254/517		chr1	TogoVar
OXGR1_chr13_96980713_96999476	96987625	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00609.hp2 HG02040.hp2 others(9): Show HG00423.hp2 HG00609.hp2 HG02040.hp2 NA18747.hp2 NA18954.hp1 NA18963.hp2 NA18989.hp2 NA18998.hp2 NA19001.hp1 NA19011.hp1 NA19080.hp2 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0018 a0002c0004t0001g0043 a0002c0004t0001g0079 others(4): Show a0002c0004t0001g0018 a0002c0004t0001g0043 a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0093 a0002c0004t0001g0107 a0002c0004t0001g0110	12	462	0.0260	-1	c.134 others(4): Show c.134delT	p.Leu others(4): Show p.Leu45fs	OXGR1	ENSG00000165621.9	transcript	ENST00000541038.2	protein_coding	4/4	590/2503	134/1014	45/337		chr13	TogoVar
P2RX2_chr12_132613776_132627388	132621877	ATCTCTGC others(4): Show ATCTCTGCCCCT	A A	frameshift_variant frameshift_variant	HIGH	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0008 a0003c0014t0008	a0003c0014t0008g0005 a0003c0014t0008g0005	1	386	0.0026	-11	c.132 others(20): Show c.1325_1335delCTGCCCCTTCT	p.Ser others(5): Show p.Ser442fs	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding	11/11	1366/1873	1325/1416	442/471	INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3690982	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0292 a0001c0001t0002g0323 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0005g0253 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0078 a0001c0003t0001g0285 a0001c0005t0001g0101 a0001c0006t0001g0182 a0001c0007t0001g0282	219	362	0.6050	-1	c.333 others(4): Show c.333delC	p.Asn others(5): Show p.Asn112fs	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	3/12	483/2060	333/1269	111/422		chr17	TogoVar
P2RY10_chrX_78940391_78968727	78960627	T T	TCTATGCA others(4): Show TCTATGCAACCA	frameshift_variant frameshift_variant	HIGH	NA18969.hp1 NA18969.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0005 a0003c0008t0002g0005	1	322	0.0031	11	c.109 others(18): Show c.109_119dupTATGCAACCAC	p.Tyr others(4): Show p.Tyr41fs	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding	4/4	430/3517	120/1020	40/339	INFO_REALIGN_3_PRIME	chrX	TogoVar
P2RY10_chrX_78940391_78968727	78961310	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19054.hp2 NA19054.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0011 a0005c0005t0011	a0005c0005t0011g0113 a0005c0005t0011g0113	1	322	0.0031	1	c.796 others(4): Show c.796dupT	p.Tyr others(5): Show p.Tyr266fs	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding	4/4	1107/3517	797/1020	266/339	INFO_REALIGN_3_PRIME	chrX	TogoVar
P2RY10_chrX_78940391_78968727	78961496	T T	TCC TCC	frameshift_variant frameshift_variant	HIGH	NA19054.hp2 NA19054.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0011 a0005c0005t0011	a0005c0005t0011g0113 a0005c0005t0011g0113	1	322	0.0031	2	c.978 others(9): Show c.978_979dupCC	p.Arg others(5): Show p.Arg327fs	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding	4/4	1290/3517	980/1020	327/339	INFO_REALIGN_3_PRIME	chrX	TogoVar
P2RY4_chrX_70253166_70265204	70259269	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18948.hp1 NA18948.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0000 a0009c0012t0005g0000	1	329	0.0030	-1	c.355 others(4): Show c.355delC	p.Leu others(5): Show p.Leu119fs	P2RY4	ENSG00000186912.7	transcript	ENST00000374519.4	protein_coding	1/1	935/2039	355/1098	119/365		chrX	TogoVar
P2RY4_chrX_70253166_70265204	70259357	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18948.hp1 NA18948.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0000 a0009c0012t0005g0000	1	329	0.0030	-1	c.267 others(4): Show c.267delC	p.Thr others(4): Show p.Thr90fs	P2RY4	ENSG00000186912.7	transcript	ENST00000374519.4	protein_coding	1/1	847/2039	267/1098	89/365		chrX	TogoVar
P2RY4_chrX_70253166_70265204	70259602	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18948.hp1 NA18948.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0000 a0009c0012t0005g0000	1	329	0.0030	-1	c.22d others(3): Show c.22delC	p.Leu others(3): Show p.Leu8fs	P2RY4	ENSG00000186912.7	transcript	ENST00000374519.4	protein_coding	1/1	602/2039	22/1098	8/365		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465506	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0036	1	114	0.0088	1	c.105 others(5): Show c.1052dupG	p.Leu others(5): Show p.Leu352fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	1341/4267	1052/1080	351/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465589	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0036	1	114	0.0088	1	c.969 others(4): Show c.969dupG	p.Ser others(5): Show p.Ser324fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	1258/4267	969/1080	323/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465648	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	1	c.910 others(4): Show c.910dupC	p.Leu others(5): Show p.Leu304fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	1199/4267	910/1080	304/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465689	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	-1	c.869 others(4): Show c.869delC	p.Pro others(5): Show p.Pro290fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	1158/4267	869/1080	290/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465699	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0036	1	114	0.0088	1	c.859 others(4): Show c.859dupT	p.Cys others(5): Show p.Cys287fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	1148/4267	859/1080	287/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465884	C C	CCT CCT	frameshift_variant frameshift_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0036	1	114	0.0088	2	c.674 others(9): Show c.674_675insAG	p.Ala others(5): Show p.Ala226fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	963/4267	674/1080	225/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1465941	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	1	c.617 others(4): Show c.617dupT	p.Val others(5): Show p.Val207fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	906/4267	617/1080	206/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466003	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	1	c.555 others(4): Show c.555dupC	p.Ser others(5): Show p.Ser186fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	844/4267	555/1080	185/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466137	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0108 a0003c0013t0001g0108	1	114	0.0088	1	c.421 others(4): Show c.421dupG	p.Val others(5): Show p.Val141fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	710/4267	421/1080	141/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466281	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01175.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0032 a0007c0009t0032	a0007c0009t0032g0004 a0007c0009t0032g0004	1	114	0.0088	1	c.277 others(4): Show c.277dupG	p.Val others(4): Show p.Val93fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	566/4267	277/1080	93/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466399	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG04199.hp1 HG02074.hp1 HG04199.hp1	a0004 a0010 a0004 a0010	a0004c0012 a0010c0007 a0004c0012 a0010c0007	a0004c0012t0013 a0010c0007t0015 a0004c0012t0013 a0010c0007t0015	a0004c0012t0013g0093 a0010c0007t0015g0015 a0004c0012t0013g0093 a0010c0007t0015g0015	2	114	0.0175	1	c.159 others(4): Show c.159dupG	p.Pro others(4): Show p.Pro54fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	448/4267	159/1080	53/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466419	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0051 a0006c0008t0005g0051	1	114	0.0088	1	c.139 others(4): Show c.139dupG	p.Val others(4): Show p.Val47fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	428/4267	139/1080	47/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466442	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG04199.hp1 HG04199.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0015 a0010c0007t0015	a0010c0007t0015g0015 a0010c0007t0015g0015	1	114	0.0088	1	c.116 others(4): Show c.116dupC	p.Asn others(4): Show p.Asn41fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	405/4267	116/1080	39/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466472	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	1	c.86d others(3): Show c.86dupT	p.Tyr others(4): Show p.Tyr30fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	375/4267	86/1080	29/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466488	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0036	1	114	0.0088	1	c.70d others(3): Show c.70dupG	p.Val others(4): Show p.Val24fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	359/4267	70/1080	24/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466513	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	1	c.45_ others(6): Show c.45_46insT	p.Met others(4): Show p.Met16fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	334/4267	45/1080	15/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466516	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0093 a0004c0012t0013g0093	1	114	0.0088	1	c.42d others(3): Show c.42dupG	p.Gln others(4): Show p.Gln15fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	331/4267	42/1080	14/359		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1466534	G G	GGC GGC	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0108 a0003c0013t0001g0108	1	114	0.0088	2	c.23_ others(7): Show c.23_24dupGC	p.Pro others(3): Show p.Pro9fs	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	2/2	313/4267	24/1080	8/359		chrX	TogoVar
PABIR3_chrX_134802237_134859832	134845203	AG AG	A A	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	199	0.0050	-1	c.247 others(4): Show c.247delG	p.Glu others(4): Show p.Glu83fs	PABIR3	ENSG00000156500.16	transcript	ENST00000645433.2	protein_coding	5/11	411/1592	247/813	83/270	INFO_REALIGN_3_PRIME	chrX	TogoVar
PABIR3_chrX_134802237_134859832	134854114	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 HG03704.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0107 a0000c0002t0001g0107	1	199	0.0050	-1	c.713 others(4): Show c.713delA	p.Asn others(5): Show p.Asn238fs	PABIR3	ENSG00000156500.16	transcript	ENST00000645433.2	protein_coding	11/11	877/1592	713/813	238/270	INFO_REALIGN_3_PRIME	chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73003745	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0000 a0002c0002t0011g0000	1	294	0.0034	-1	c.106 others(4): Show c.106delG	p.Asp others(4): Show p.Asp36fs	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding	1/1	810/3168	106/603	36/200	INFO_REALIGN_3_PRIME	chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73004051	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0000 a0002c0002t0011g0000	1	294	0.0034	-1	c.413 others(4): Show c.413delA	p.Lys others(5): Show p.Lys138fs	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding	1/1	1117/3168	413/603	138/200	INFO_REALIGN_3_PRIME	chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73004229	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0000 a0002c0002t0011g0000	1	294	0.0034	1	c.587 others(8): Show c.587_588insC	p.Glu others(5): Show p.Glu196fs	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding	1/1	1292/3168	588/603	196/200		chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73004236	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0000 a0002c0002t0011g0000	1	294	0.0034	-1	c.596 others(4): Show c.596delT	p.Leu others(5): Show p.Leu199fs	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding	1/1	1300/3168	596/603	199/200	INFO_REALIGN_3_PRIME	chrX	TogoVar
PAF1_chr19_39380629_39396106	39386479	TACCTGAG others(35): Show TACCTGAGCCCCCAGCTTCTTTCTCTTCTGTCTCCATCTCCTC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18979.hp2 NA18979.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0001 a0000c0008t0001	a0000c0008t0001g0027 a0000c0008t0001g0027	1	368	0.0027	-42	c.114 others(53): Show c.1144_1183+2delGAGGAGATGGAGACAGAAGAGAAAGAAGCTGGGG GCTCAGGT	p.Glu others(5): Show p.Glu382fs	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding	13/14		1144/1596	382/531		chr19	TogoVar
PAGE1_chrX_49682447_49700984	49687552	A A	AT AT	frameshift_variant frameshift_variant	HIGH	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0052 a0004c0006t0004g0052	1	322	0.0031	1	c.429 others(4): Show c.429dupA	p.Ser others(5): Show p.Ser144fs	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	6/6	553/659	429/441	143/146		chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689491	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0052 a0004c0006t0004g0052	1	322	0.0031	1	c.344 others(4): Show c.344dupG	p.Cys others(5): Show p.Cys115fs	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	5/6	468/659	344/441	115/146		chrX	TogoVar
PAGE2B_chrX_55070030_55083909	55076045	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18978.hp1 NA18978.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0026 a0005c0009t0004g0026	1	325	0.0031	1	c.4_5 others(4): Show c.4_5insT	p.Ser others(3): Show p.Ser2fs	PAGE2B	ENSG00000238269.9	transcript	ENST00000374971.2	protein_coding	2/5	98/540	5/336	2/111		chrX	TogoVar
PAGE2B_chrX_55070030_55083909	55077478	G G	GT GT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0007 a0006c0007t0001g0007	1	325	0.0031	1	c.273 others(8): Show c.273_274insT	p.Glu others(4): Show p.Glu92fs	PAGE2B	ENSG00000238269.9	transcript	ENST00000374971.2	protein_coding	4/5	367/540	274/336	92/111		chrX	TogoVar
PAK2_chr3_196734857_196837647	196806643	CTGCTCCT others(39): Show CTGCTCCTCCCGTTATTGCCCCGCGACCGGATCATACGAAATCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0146 a0003c0005t0001g0146	1	178	0.0056	-46	c.534 others(55): Show c.534_576+3delTGCTCCTCCCGTTATTGCCCCGCGACCGGATCATAC GAAATCAGTG	p.Ala others(5): Show p.Ala179fs	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	6/15	856/6139	534/1575	178/524		chr3	TogoVar
PAK2_chr3_196734857_196837647	196807860	G G	GACAAACA others(22): Show GACAAACAGAAAAAGAAGACTAAGATGACA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0104 a0002c0006t0010g0104	1	178	0.0056	29	c.656 others(36): Show c.656_684dupACAAACAGAAAAAGAAGACTAAGATGACA	p.Asp others(5): Show p.Asp229fs	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/15	1007/6139	685/1575	229/524	INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK3_chrX_111091191_111232361	111162945	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0117 a0002c0004t0002g0117	1	195	0.0051	-1	c.503 others(4): Show c.503delC	p.Pro others(5): Show p.Pro168fs	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	9/18	1080/9126	503/1635	168/544	INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111162996	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0117 a0002c0004t0002g0117	1	195	0.0051	-1	c.554 others(4): Show c.554delA	p.Asn others(5): Show p.Asn185fs	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	9/18	1131/9126	554/1635	185/544	INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111163039	C C	CA CA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0117 a0002c0004t0002g0117	1	195	0.0051	1	c.597 others(4): Show c.597dupA	p.Ser others(5): Show p.Ser200fs	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	9/18	1175/9126	598/1635	200/544	INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111163637	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0117 a0002c0004t0002g0117	1	195	0.0051	1	c.680 others(4): Show c.680dupA	p.Asn others(5): Show p.Asn227fs	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	10/18	1258/9126	681/1635	227/544	INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111163683	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0117 a0002c0004t0002g0117	1	195	0.0051	-1	c.729 others(4): Show c.729delA	p.Lys others(5): Show p.Lys243fs	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	10/18	1306/9126	729/1635	243/544	INFO_REALIGN_3_PRIME	chrX	TogoVar
PANK2_chr20_3884387_3934887	3918770	TTGAAAGC others(10): Show TTGAAAGCACTTTTTTCG	T T	frameshift_variant frameshift_variant	HIGH	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0060 a0005c0008t0060	a0005c0008t0060g0146 a0005c0008t0060g0146	1	422	0.0024	-17	c.130 others(26): Show c.1307_1323delTGAAAGCACTTTTTTCG	p.Leu others(5): Show p.Leu436fs	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	6/7	1351/8020	1307/1383	436/460		chr20	TogoVar
PANX2_chr22_50165731_50185295	50177892	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00741.hp2 HG01243.hp2 others(7): Show HG00423.hp2 HG00741.hp2 HG01243.hp2 HG01257.hp2 HG01891.hp1 HG02055.hp1 HG02056.hp2 HG03209.hp2 NA18961.hp1 NA19003.hp2	a0000 a0002 a0000 a0002	a0000c0004 a0000c0005 a0000c0012 others(1): Show a0000c0004 a0000c0005 a0000c0012 a0002c0006	a0000c0004t0003 a0000c0004t0008 a0000c0005t0001 others(3): Show a0000c0004t0003 a0000c0004t0008 a0000c0005t0001 a0000c0012t0001 a0002c0006t0001 a0002c0006t0002	a0000c0004t0003g0002 a0000c0004t0008g0010 a0000c0005t0001g0006 others(5): Show a0000c0004t0003g0002 a0000c0004t0008g0010 a0000c0005t0001g0006 a0000c0005t0001g0008 a0000c0012t0001g0006 a0002c0006t0001g0110 a0002c0006t0002g0030 a0002c0006t0002g0044	10	440	0.0227	1	c.118 others(5): Show c.1185dupC	p.Thr others(5): Show p.Thr396fs	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding	2/3	1186/3052	1186/2034	396/677	INFO_REALIGN_3_PRIME	chr22	TogoVar
PARL_chr3_183824271_183889880	183884808	G G	GCAGCCCC others(177): Show GCAGCCCCAGCCTCTCTGCGCCCAGCCTCGCCACGCCCCCTCCCCCCCCC CCCCCCCACGCACCCCACCCCACGCCCACCCTCCCCACCCCCCCCCGCCT CCCACCCCCCCCCCCCCACTCCCCCACCCCCCCCATCTCCCCTCCCCACC ACCCTCCCCCCACCCCCCTCCCACCCTCCCCTCCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0019	1	358	0.0028	184	c.38_ others(189): Show c.38_39insAGGAGGGGAGGGTGGGAGGGGGGTGGGGGGAGGGTGGTGG GGAGGGGAGATGGGGGGGGTGGGGGAGTGGGGGGGGGGGGGTGGGAGGCG GGGGGGGGTGGGGAGGGTGGGCGTGGGGTGGGGTGCGTGGGGGGGGGGGG GGGGAGGGGGCGTGGCGAGGCTGGGCGCAGAGAGGCTGGGGCTG	p.Cys others(4): Show p.Cys13fs	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/10	72/1501	38/1140	13/379		chr3	TogoVar

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Search Results (Total: 5828 hits)