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
MYL11_chr16_30369802_30382991	30376163	CAGAACCG others(31): Show CAGAACCGTGATGGTATTATAGACAAGGAGGACCTTCGG	C C	frameshift_variant frameshift_variant	HIGH	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	1	304	0.0033	-38	c.116 others(45): Show c.116_153delAGAACCGTGATGGTATTATAGACAAGGAGGACCTTCGG	p.Gln others(4): Show p.Gln39fs	MYL11	ENSG00000180209.12	transcript	ENST00000322861.12	protein_coding	3/7	172/657	116/510	39/169		chr16	TogoVar
MYL1_chr2_210285150_210320174	210315041	A A	AT AT	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG01109.hp2 HG01891.hp2 HG02055.hp1 others(9): Show HG01109.hp2 HG01891.hp2 HG02055.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0004 a0001c0003t0001 a0002c0005t0004	a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0061 others(7): Show a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0002c0005t0004g0059	12	398	0.0302	1	c.1du others(2): Show c.1dupA	p.Met others(3): Show p.Met1fs	MYL1	ENSG00000168530.16	transcript	ENST00000352451.4	protein_coding	1/7	133/1049	1/585	1/194		chr2	TogoVar
MYO15A_chr17_18103756_18184800	18122105	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp2 HG01099.hp1 others(9): Show HG00621.hp1 HG00621.hp2 HG01099.hp1 HG01109.hp2 HG02074.hp2 HG03225.hp2 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18961.hp2 NA18981.hp2 NA19000.hp2	a0009 a0034 a0044 others(3): Show a0009 a0034 a0044 a0055 a0056 a0057	a0009c0016 a0009c0026 a0009c0044 others(5): Show a0009c0016 a0009c0026 a0009c0044 a0034c0085 a0044c0041 a0055c0040 a0056c0070 a0057c0066	a0009c0016t0001 a0009c0026t0004 a0009c0044t0005 others(5): Show a0009c0016t0001 a0009c0026t0004 a0009c0044t0005 a0034c0085t0006 a0044c0041t0001 a0055c0040t0001 a0056c0070t0001 a0057c0066t0014	a0009c0016t0001g0150 a0009c0016t0001g0180 a0009c0016t0001g0234 others(9): Show a0009c0016t0001g0150 a0009c0016t0001g0180 a0009c0016t0001g0234 a0009c0016t0001g0265 a0009c0026t0004g0169 a0009c0026t0004g0193 a0009c0044t0005g0227 a0034c0085t0006g0047 a0044c0041t0001g0149 a0055c0040t0001g0195 a0056c0070t0001g0110 a0057c0066t0014g0091	12	328	0.0366	1	c.331 others(5): Show c.3311dupG	p.Glu others(6): Show p.Glu1105fs	MYO15A	ENSG00000091536.20	transcript	ENST00000647165.2	protein_coding	2/66	3600/11811	3312/10593	1104/3530	INFO_REALIGN_3_PRIME	chr17	TogoVar
MYO15B_chr17_75582800_75631849	75588737	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG06807.hp2 NA18959.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA19030.hp2 NA19077.hp1 NA19087.hp2 NA20905.hp1 NA21309.hp2	a0003 a0015 a0050 others(1): Show a0003 a0015 a0050 a0091	a0003c0008 a0003c0024 a0003c0025 others(28): Show a0003c0008 a0003c0024 a0003c0025 a0003c0026 a0003c0037 a0003c0038 a0003c0039 a0003c0056 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0061 a0003c0062 a0003c0063 a0003c0064 a0003c0120 a0003c0121 a0003c0122 a0003c0123 a0003c0124 a0003c0125 a0003c0126 a0003c0127 a0003c0128 a0003c0129 a0015c0040 a0015c0130 a0015c0131 a0050c0054 a0091c0119	a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 others(28): Show a0003c0008t0002 a0003c0024t0002 a0003c0025t0002 a0003c0026t0002 a0003c0037t0002 a0003c0038t0002 a0003c0039t0002 a0003c0056t0002 a0003c0057t0002 a0003c0058t0010 a0003c0059t0002 a0003c0060t0002 a0003c0061t0002 a0003c0062t0002 a0003c0063t0002 a0003c0064t0002 a0003c0120t0002 a0003c0121t0002 a0003c0122t0002 a0003c0123t0002 a0003c0124t0002 a0003c0125t0002 a0003c0126t0002 a0003c0127t0002 a0003c0128t0002 a0003c0129t0002 a0015c0040t0002 a0015c0130t0002 a0015c0131t0002 a0050c0054t0002 a0091c0119t0002	a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 others(37): Show a0003c0008t0002g0045 a0003c0008t0002g0063 a0003c0008t0002g0066 a0003c0008t0002g0068 a0003c0008t0002g0069 a0003c0024t0002g0050 a0003c0024t0002g0051 a0003c0025t0002g0062 a0003c0025t0002g0067 a0003c0026t0002g0007 a0003c0037t0002g0060 a0003c0037t0002g0061 a0003c0038t0002g0057 a0003c0038t0002g0074 a0003c0039t0002g0072 a0003c0039t0002g0073 a0003c0056t0002g0006 a0003c0057t0002g0046 a0003c0058t0010g0071 a0003c0059t0002g0006 a0003c0060t0002g0065 a0003c0061t0002g0064 a0003c0062t0002g0070 a0003c0063t0002g0052 a0003c0064t0002g0053 a0003c0120t0002g0054 a0003c0121t0002g0047 a0003c0122t0002g0056 a0003c0123t0002g0042 a0003c0124t0002g0043 a0003c0125t0002g0058 a0003c0126t0002g0059 a0003c0127t0002g0048 a0003c0128t0002g0049 a0003c0129t0002g0055 a0015c0040t0002g0008 a0015c0130t0002g0076 a0015c0131t0002g0077 a0050c0054t0002g0044 a0091c0119t0002g0078	42	384	0.1094	1	c.684 others(4): Show c.684dupG	p.Pro others(5): Show p.Pro229fs	MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	1/64	943/9914	685/9291	229/3096	INFO_REALIGN_3_PRIME	chr17	TogoVar
MYO15B_chr17_75582800_75631849	75596487	CTG CTG	C C	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG01070.hp2 HG01109.hp1 others(20): Show HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA19002.hp2 NA19030.hp1	a0003 a0009 a0015 others(7): Show a0003 a0009 a0015 a0046 a0091 a0093 a0104 a0114 a0117 a0122	a0003c0039 a0003c0057 a0003c0062 others(17): Show a0003c0039 a0003c0057 a0003c0062 a0003c0121 a0003c0127 a0003c0128 a0003c0129 a0009c0031 a0009c0065 a0009c0102 a0009c0103 a0015c0040 a0046c0086 a0046c0087 a0091c0119 a0093c0074 a0104c0096 a0114c0111 a0117c0113 a0122c0070	a0003c0039t0002 a0003c0057t0002 a0003c0062t0002 others(17): Show a0003c0039t0002 a0003c0057t0002 a0003c0062t0002 a0003c0121t0002 a0003c0127t0002 a0003c0128t0002 a0003c0129t0002 a0009c0031t0001 a0009c0065t0001 a0009c0102t0001 a0009c0103t0001 a0015c0040t0002 a0046c0086t0001 a0046c0087t0001 a0091c0119t0002 a0093c0074t0001 a0104c0096t0001 a0114c0111t0001 a0117c0113t0001 a0122c0070t0003	a0003c0039t0002g0072 a0003c0039t0002g0073 a0003c0057t0002g0046 others(19): Show a0003c0039t0002g0072 a0003c0039t0002g0073 a0003c0057t0002g0046 a0003c0062t0002g0070 a0003c0121t0002g0047 a0003c0127t0002g0048 a0003c0128t0002g0049 a0003c0129t0002g0055 a0009c0031t0001g0287 a0009c0031t0001g0288 a0009c0065t0001g0286 a0009c0102t0001g0285 a0009c0103t0001g0289 a0015c0040t0002g0008 a0046c0086t0001g0303 a0046c0087t0001g0345 a0091c0119t0002g0078 a0093c0074t0001g0313 a0104c0096t0001g0339 a0114c0111t0001g0336 a0117c0113t0001g0304 a0122c0070t0003g0316	23	384	0.0599	-2	c.332 others(11): Show c.3328_3329delTG	p.Cys others(6): Show p.Cys1110fs	MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	13/64	3586/9914	3328/9291	1110/3096	INFO_REALIGN_3_PRIME	chr17	TogoVar
MYO1F_chr19_8515778_8582442	8526565	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 NA18972.hp1 NA18990.hp1 others(2): Show HG00735.hp2 NA18972.hp1 NA18990.hp1 NA18994.hp1 NA19055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0003 a0003c0004t0006 a0003c0004t0002 a0003c0004t0003 a0003c0004t0006	a0003c0004t0002g0095 a0003c0004t0002g0222 a0003c0004t0003g0023 others(2): Show a0003c0004t0002g0095 a0003c0004t0002g0222 a0003c0004t0003g0023 a0003c0004t0003g0158 a0003c0004t0006g0298	5	342	0.0146	1	c.265 others(5): Show c.2657dupG	p.Gly others(5): Show p.Gly887fs	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	24/28	2790/4180	2657/3297	886/1098		chr19	TogoVar
MYO3A_chr10_25929229_26217532	26176705	CAAAGTTA others(24): Show CAAAGTTATCTGAAGAATATTTCATTCTGCAG	C C	frameshift_variant frameshift_variant	HIGH	HG02027.hp1 HG02027.hp1	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0001 a0030c0035t0001	a0030c0035t0001g0271 a0030c0035t0001g0271	1	280	0.0036	-31	c.430 others(40): Show c.4302_4332delGTTATCTGAAGAATATTTCATTCTGCAGAAA	p.Leu others(6): Show p.Leu1435fs	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	31/35	4506/5624	4302/4851	1434/1616	INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO7A_chr11_77123246_77220241	77179796	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show HG00639.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18949.hp1 NA18950.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA19030.hp1 NA19030.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp2	a0005 a0008 a0015 others(1): Show a0005 a0008 a0015 a0043	a0005c0008 a0005c0017 a0005c0026 others(35): Show a0005c0008 a0005c0017 a0005c0026 a0005c0032 a0005c0040 a0005c0050 a0005c0051 a0005c0052 a0005c0053 a0005c0054 a0005c0055 a0005c0056 a0005c0057 a0005c0058 a0005c0059 a0005c0078 a0005c0079 a0005c0080 a0005c0081 a0005c0095 a0005c0096 a0008c0021 a0008c0035 a0008c0036 a0008c0098 a0008c0099 a0008c0100 a0008c0109 a0008c0110 a0008c0111 a0008c0112 a0008c0113 a0008c0114 a0008c0115 a0008c0129 a0015c0045 a0015c0046 a0043c0094	a0005c0008t0001 a0005c0017t0001 a0005c0026t0001 others(35): Show a0005c0008t0001 a0005c0017t0001 a0005c0026t0001 a0005c0032t0001 a0005c0040t0004 a0005c0050t0001 a0005c0051t0001 a0005c0052t0001 a0005c0053t0001 a0005c0054t0001 a0005c0055t0001 a0005c0056t0001 a0005c0057t0001 a0005c0058t0001 a0005c0059t0001 a0005c0078t0001 a0005c0079t0001 a0005c0080t0001 a0005c0081t0001 a0005c0095t0008 a0005c0096t0001 a0008c0021t0001 a0008c0035t0001 a0008c0036t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0002 a0008c0109t0001 a0008c0110t0001 a0008c0111t0001 a0008c0112t0001 a0008c0113t0001 a0008c0114t0001 a0008c0115t0001 a0008c0129t0001 a0015c0045t0001 a0015c0046t0001 a0043c0094t0001	a0005c0008t0001g0006 a0005c0008t0001g0031 a0005c0008t0001g0050 others(51): Show a0005c0008t0001g0006 a0005c0008t0001g0031 a0005c0008t0001g0050 a0005c0008t0001g0086 a0005c0008t0001g0113 a0005c0008t0001g0285 a0005c0008t0001g0322 a0005c0017t0001g0042 a0005c0017t0001g0135 a0005c0017t0001g0312 a0005c0017t0001g0316 a0005c0026t0001g0202 a0005c0026t0001g0334 a0005c0032t0001g0005 a0005c0032t0001g0222 a0005c0040t0004g0330 a0005c0050t0001g0119 a0005c0051t0001g0303 a0005c0052t0001g0254 a0005c0053t0001g0250 a0005c0054t0001g0140 a0005c0055t0001g0339 a0005c0056t0001g0307 a0005c0057t0001g0132 a0005c0058t0001g0256 a0005c0059t0001g0244 a0005c0078t0001g0074 a0005c0079t0001g0070 a0005c0080t0001g0127 a0005c0081t0001g0051 a0005c0095t0008g0337 a0005c0096t0001g0062 a0008c0021t0001g0149 a0008c0021t0001g0154 a0008c0021t0001g0184 a0008c0021t0001g0185 a0008c0035t0001g0143 a0008c0035t0001g0301 a0008c0036t0001g0102 a0008c0036t0001g0291 a0008c0098t0001g0271 a0008c0099t0001g0191 a0008c0100t0002g0225 a0008c0109t0001g0321 a0008c0110t0001g0167 a0008c0111t0001g0150 a0008c0112t0001g0232 a0008c0113t0001g0145 a0008c0114t0001g0273 a0008c0115t0001g0269 a0008c0129t0001g0235 a0015c0045t0001g0003 a0015c0046t0001g0326 a0043c0094t0001g0134	54	356	0.1517	1	c.243 others(5): Show c.2431dupC	p.Arg others(5): Show p.Arg811fs	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	21/49	2722/7483	2432/6648	811/2215	INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOF_chr10_93301429_93487334	93366520	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01891.hp2 HG02055.hp2 others(4): Show HG00735.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG03486.hp2 HG03942.hp1 HG03942.hp2	a0005 a0005	a0005c0014 a0005c0020 a0005c0030 others(1): Show a0005c0014 a0005c0020 a0005c0030 a0005c0037	a0005c0014t0001 a0005c0020t0001 a0005c0030t0002 others(1): Show a0005c0014t0001 a0005c0020t0001 a0005c0030t0002 a0005c0037t0003	a0005c0014t0001g0063 a0005c0014t0001g0132 a0005c0014t0001g0142 others(4): Show a0005c0014t0001g0063 a0005c0014t0001g0132 a0005c0014t0001g0142 a0005c0020t0001g0003 a0005c0020t0001g0052 a0005c0030t0002g0170 a0005c0037t0003g0231	7	240	0.0292	1	c.262 others(5): Show c.2624dupG	p.Thr others(5): Show p.Thr876fs	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	26/54	2764/6860	2624/6186	875/2061		chr10	TogoVar
MYPOP_chr19_45885023_45907613	45891133	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG01099.hp2 HG01175.hp1 others(18): Show HG00438.hp2 HG01099.hp2 HG01175.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02135.hp2 HG02698.hp1 HG02809.hp1 HG03098.hp1 HG03927.hp1 HG03927.hp2 NA18969.hp1 NA18979.hp1 NA18991.hp2 NA19009.hp2 NA19068.hp2 NA19078.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0002c0009 a0002c0013 others(3): Show a0002c0005 a0002c0009 a0002c0013 a0002c0014 a0002c0023 a0005c0017	a0002c0005t0001 a0002c0005t0007 a0002c0009t0001 others(4): Show a0002c0005t0001 a0002c0005t0007 a0002c0009t0001 a0002c0013t0001 a0002c0014t0001 a0002c0023t0001 a0005c0017t0001	a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 others(17): Show a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 a0002c0005t0001g0076 a0002c0005t0001g0116 a0002c0005t0001g0143 a0002c0005t0001g0171 a0002c0005t0001g0177 a0002c0005t0001g0184 a0002c0005t0007g0161 a0002c0009t0001g0097 a0002c0009t0001g0099 a0002c0009t0001g0104 a0002c0009t0001g0159 a0002c0013t0001g0059 a0002c0013t0001g0061 a0002c0014t0001g0130 a0002c0014t0001g0134 a0002c0023t0001g0094 a0005c0017t0001g0062	21	408	0.0515	1	c.689 others(4): Show c.689dupC	p.Pro others(5): Show p.Pro231fs	MYPOP	ENSG00000176182.6	transcript	ENST00000322217.6	protein_coding	3/3	785/1896	689/1200	230/399		chr19	TogoVar
MZT2A_chr2_131478960_131497397	131492343	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01069.hp2 HG01074.hp2 HG01175.hp2 others(31): Show HG01069.hp2 HG01074.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01943.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG06807.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(2): Show a0002c0002 a0002c0004 a0002c0006 a0002c0009 a0002c0010	a0002c0002t0001 a0002c0004t0001 a0002c0006t0001 others(2): Show a0002c0002t0001 a0002c0004t0001 a0002c0006t0001 a0002c0009t0001 a0002c0010t0001	a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 others(14): Show a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0004t0001g0013 a0002c0006t0001g0018 a0002c0006t0001g0111 a0002c0009t0001g0101 a0002c0009t0001g0102 a0002c0010t0001g0104 a0002c0010t0001g0105	34	390	0.0872	-1	c.33d others(3): Show c.33delG	p.Ser others(4): Show p.Ser12fs	MZT2A	ENSG00000173272.16	transcript	ENST00000309451.7	protein_coding	1/3	54/599	33/477	11/158		chr2	TogoVar
NAA10_chrX_153924225_153940037	153930018	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0031 a0004c0003t0005g0031	1	292	0.0034	1	c.676 others(4): Show c.676dupG	p.Asp others(5): Show p.Asp226fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	8/8	809/1603	676/708	226/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153930084	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0031 a0004c0003t0005g0031	1	292	0.0034	1	c.610 others(4): Show c.610dupG	p.Asp others(5): Show p.Asp204fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	8/8	743/1603	610/708	204/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153930098	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0031 a0004c0003t0005g0031	1	292	0.0034	1	c.596 others(4): Show c.596dupG	p.Leu others(5): Show p.Leu200fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	8/8	729/1603	596/708	199/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153930149	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0031 a0004c0003t0005g0031	1	292	0.0034	1	c.545 others(4): Show c.545dupG	p.Ser others(5): Show p.Ser182fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	8/8	678/1603	545/708	182/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153930785	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0031 a0004c0003t0005g0031	1	292	0.0034	1	c.448 others(4): Show c.448dupG	p.Asp others(5): Show p.Asp150fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	7/8	581/1603	448/708	150/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153932544	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.219 others(4): Show c.219dupC	p.Ser others(4): Show p.Ser74fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	4/8	352/1603	219/708	73/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153932554	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.209 others(4): Show c.209dupG	p.His others(4): Show p.His71fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	4/8	342/1603	209/708	70/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153932582	TC TC	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	-1	c.181 others(4): Show c.181delG	p.Glu others(4): Show p.Glu61fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	4/8	314/1603	181/708	61/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153934890	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.14d others(3): Show c.14dupA	p.Asn others(3): Show p.Asn5fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	1/8	147/1603	14/708	5/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153934901	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0051 a0002c0004t0009g0051	1	292	0.0034	1	c.3du others(2): Show c.3dupG	p.Asn others(3): Show p.Asn2fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	1/8	136/1603	3/708	1/235		chrX	TogoVar
NAA16_chr13_41306267_41382030	41372284	TTAGCATT others(24): Show TTAGCATTTGAAATATATTTTAGAAAAGGTAA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp2 HG03688.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0026 a0007c0008t0026	a0007c0008t0026g0078 a0007c0008t0026g0078	1	354	0.0028	-31	c.203 others(42): Show c.2032_2056+6delGCATTTGAAATATATTTTAGAAAAGGTAATA	p.Ala others(5): Show p.Ala678fs	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	16/20	2294/4285	2032/2595	678/864	INFO_REALIGN_3_PRIME	chr13	TogoVar
NAALADL1_chr11_65039818_65063553	65054290	CCAACCTG others(3): Show CCAACCTGTAG	C C	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0112 a0012c0012t0001g0112	1	372	0.0027	-10	c.942 others(17): Show c.942_951delCTACAGGTTG	p.His others(5): Show p.His314fs	NAALADL1	ENSG00000168060.16	transcript	ENST00000358658.8	protein_coding	6/18	983/2708	942/2223	314/740		chr11	TogoVar
NACA_chr12_56707427_56730299	56716599	GGAGTCAC others(4): Show GGAGTCACAGGT	G G	frameshift_variant frameshift_variant	HIGH	HG02922.hp2 HG02922.hp2	a0035 a0035	a0035c0035 a0035c0035	a0035c0035t0001 a0035c0035t0001	a0035c0035t0001g0083 a0035c0035t0001g0083	1	366	0.0027	-11	c.492 others(20): Show c.4920_4930delACCTGTGACTC	p.Pro others(6): Show p.Pro1641fs	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	4969/6387	4920/6237	1640/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56718087	GCCCCTTT others(61): Show GCCCCTTTTGGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAGGGAGGAGT TGCAGCTGGGGTTGTGGGT	G G	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA19091.hp2 NA18967.hp1 NA19091.hp2	a0016 a0016	a0016c0038 a0016c0039 a0016c0038 a0016c0039	a0016c0038t0001 a0016c0039t0001 a0016c0038t0001 a0016c0039t0001	a0016c0038t0001g0054 a0016c0039t0001g0085 a0016c0038t0001g0054 a0016c0039t0001g0085	2	366	0.0055	-68	c.337 others(77): Show c.3375_3442delACCCACAACCCCAGCTGCAACTCCTCCCTCCCCAAA AGGAGGTCTAGCTACCCCACCCCCAAAAGGGG	p.Thr others(6): Show p.Thr1127fs	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3481/6387	3375/6237	1125/2078		chr12	TogoVar
NACA_chr12_56707427_56730299	56719755	T T	TCTCTTCT others(6): Show TCTCTTCTTGGCTC	frameshift_variant frameshift_variant	HIGH	HG02273.hp2 HG02273.hp2	a0043 a0043	a0043c0046 a0043c0046	a0043c0046t0001 a0043c0046t0001	a0043c0046t0001g0057 a0043c0046t0001g0057	1	366	0.0027	13	c.177 others(22): Show c.1774_1775insGAGCCAAGAAGAG	p.Lys others(5): Show p.Lys592fs	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	1813/6387	1774/6237	592/2078		chr12	TogoVar
NALF2_chrX_69499326_69537508	69505341	G G	GCT GCT	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	2	c.60_ others(7): Show c.60_61dupCT	p.Cys others(4): Show p.Cys21fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1019/4928	62/1419	21/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505345	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	1	c.64d others(3): Show c.64dupT	p.Cys others(4): Show p.Cys22fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1022/4928	65/1419	22/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505355	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0030 a0017c0024t0030	a0017c0024t0030g0045 a0017c0024t0030g0045	1	322	0.0031	1	c.76d others(3): Show c.76dupG	p.Ala others(4): Show p.Ala26fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1034/4928	77/1419	26/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505402	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	1	c.121 others(4): Show c.121dupC	p.Gln others(4): Show p.Gln41fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1079/4928	122/1419	41/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505427	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0016 a0016	a0016c0009 a0016c0009	a0016c0009t0031 a0016c0009t0031	a0016c0009t0031g0044 a0016c0009t0031g0044	1	322	0.0031	1	c.148 others(4): Show c.148dupC	p.Leu others(4): Show p.Leu50fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1106/4928	149/1419	50/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505450	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0030 a0017c0024t0030	a0017c0024t0030g0045 a0017c0024t0030g0045	1	322	0.0031	1	c.169 others(4): Show c.169dupC	p.Leu others(4): Show p.Leu57fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1127/4928	170/1419	57/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505486	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	1	c.208 others(4): Show c.208dupC	p.Arg others(4): Show p.Arg70fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1166/4928	209/1419	70/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505490	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0015 a0015	a0015c0010 a0015c0010	a0015c0010t0028 a0015c0010t0028	a0015c0010t0028g0149 a0015c0010t0028g0149	1	322	0.0031	-1	c.211 others(4): Show c.211delG	p.Ala others(4): Show p.Ala71fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1168/4928	211/1419	71/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505526	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG03831.hp2 HG03831.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0041 a0014c0023t0002g0041	1	322	0.0031	1	c.250 others(4): Show c.250dupG	p.Ala others(4): Show p.Ala84fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1208/4928	251/1419	84/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505538	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0016 a0016	a0016c0009 a0016c0009	a0016c0009t0031 a0016c0009t0031	a0016c0009t0031g0044 a0016c0009t0031g0044	1	322	0.0031	1	c.259 others(4): Show c.259dupG	p.Glu others(4): Show p.Glu87fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1217/4928	260/1419	87/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505555	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0015 a0015	a0015c0010 a0015c0010	a0015c0010t0028 a0015c0010t0028	a0015c0010t0028g0149 a0015c0010t0028g0149	1	322	0.0031	1	c.275 others(4): Show c.275dupC	p.Pro others(4): Show p.Pro93fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1233/4928	276/1419	92/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505579	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0016 a0016	a0016c0009 a0016c0009	a0016c0009t0031 a0016c0009t0031	a0016c0009t0031g0044 a0016c0009t0031g0044	1	322	0.0031	1	c.299 others(4): Show c.299dupC	p.Pro others(5): Show p.Pro101fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1257/4928	300/1419	100/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505585	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0030 a0017c0024t0030	a0017c0024t0030g0045 a0017c0024t0030g0045	1	322	0.0031	1	c.305 others(4): Show c.305dupC	p.Pro others(5): Show p.Pro103fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1263/4928	306/1419	102/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505600	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0030 a0017c0024t0030	a0017c0024t0030g0045 a0017c0024t0030g0045	1	322	0.0031	-1	c.321 others(4): Show c.321delC	p.Ser others(5): Show p.Ser108fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1278/4928	321/1419	107/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505611	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	1	c.329 others(8): Show c.329_330insA	p.Gly others(5): Show p.Gly112fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1287/4928	330/1419	110/472		chrX	TogoVar
NALF2_chrX_69499326_69537508	69505655	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0132 a0013c0012t0001g0132	1	322	0.0031	1	c.378 others(4): Show c.378dupC	p.Ala others(5): Show p.Ala127fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1336/4928	379/1419	127/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505655	G G	GCC GCC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	2	c.377 others(9): Show c.377_378dupCC	p.Ala others(5): Show p.Ala127fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1336/4928	379/1419	127/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505673	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0016 a0016	a0016c0009 a0016c0009	a0016c0009t0031 a0016c0009t0031	a0016c0009t0031g0044 a0016c0009t0031g0044	1	322	0.0031	1	c.393 others(4): Show c.393dupG	p.Pro others(5): Show p.Pro132fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1351/4928	394/1419	132/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505726	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0016 a0016	a0016c0009 a0016c0009	a0016c0009t0031 a0016c0009t0031	a0016c0009t0031g0044 a0016c0009t0031g0044	1	322	0.0031	1	c.447 others(4): Show c.447dupA	p.Leu others(5): Show p.Leu150fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1405/4928	448/1419	150/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505745	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0006 a0012c0021t0001g0006	1	322	0.0031	1	c.464 others(4): Show c.464dupG	p.Leu others(5): Show p.Leu156fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1422/4928	465/1419	155/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505769	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0018 a0018	a0018c0008 a0018c0008	a0018c0008t0034 a0018c0008t0034	a0018c0008t0034g0150 a0018c0008t0034g0150	1	322	0.0031	1	c.494 others(4): Show c.494dupC	p.Leu others(5): Show p.Leu166fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1452/4928	495/1419	165/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505796	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0030 a0017c0024t0030	a0017c0024t0030g0045 a0017c0024t0030g0045	1	322	0.0031	-1	c.517 others(4): Show c.517delT	p.Ser others(5): Show p.Ser173fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1474/4928	517/1419	173/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505805	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0015 a0015	a0015c0010 a0015c0010	a0015c0010t0028 a0015c0010t0028	a0015c0010t0028g0149 a0015c0010t0028g0149	1	322	0.0031	1	c.527 others(4): Show c.527dupC	p.Ala others(5): Show p.Ala177fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1485/4928	528/1419	176/472	INFO_REALIGN_3_PRIME	chrX	TogoVar
NALF2_chrX_69499326_69537508	69505828	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0124 a0011c0016t0001g0124	1	322	0.0031	-1	c.554 others(4): Show c.554delA	p.Asn others(5): Show p.Asn185fs	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3	1511/4928	554/1419	185/472	INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 5828 hits)