Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYO7A_chr11_77123246_77220241	77163687	TTGTGTCT others(21): Show TTGTGTCTGGCTTGTTTCATTCAGCGTAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02615.hp1 others(5): Show HG01243.hp2 HG01891.hp2 HG02615.hp1 HG02922.hp1 HG03041.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp1	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0043	a0001c0005 a0001c0060 a0005c0026 others(4): Show a0001c0005 a0001c0060 a0005c0026 a0005c0059 a0010c0019 a0010c0070 a0043c0094	a0001c0005t0001 a0001c0060t0001 a0005c0026t0001 others(4): Show a0001c0005t0001 a0001c0060t0001 a0005c0026t0001 a0005c0059t0001 a0010c0019t0001 a0010c0070t0001 a0043c0094t0001	a0001c0005t0001g0138 a0001c0060t0001g0243 a0005c0026t0001g0202 others(5): Show a0001c0005t0001g0138 a0001c0060t0001g0243 a0005c0026t0001g0202 a0005c0059t0001g0244 a0010c0019t0001g0137 a0010c0019t0001g0201 a0010c0070t0001g0136 a0043c0094t0001g0134	8	356	0.0225	-28	c.169 others(45): Show c.1690+703_1690+730delGTCTGGCTTGTTTCATTCAGCGTAATGT	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	14/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO9B_chr19_17070777_17218286	17146155	GTGGATAG others(21): Show GTGGATAGATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG02976.hp2 others(1): Show HG02145.hp1 HG02630.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0123 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0167	4	262	0.0153	-28	c.935 others(43): Show c.935+670_935+697delAGATGGATGGATGGATGGATGGATGGAT	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOCD_chr17_12660890_12773949	12676245	GCACACAC others(21): Show GCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00544.hp2 others(50): Show HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG01255.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18949.hp2 NA18954.hp1 NA18959.hp2 NA18975.hp2 NA18981.hp1 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19065.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0008 a0014 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005 a0003c0008 a0005c0012 a0008c0029 a0014c0022 a0020c0014 a0021c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0040 a0001c0001t0046 a0001c0001t0079 a0001c0001t0099 a0001c0001t0102 a0001c0001t0114 a0001c0001t0117 a0001c0001t0120 a0001c0001t0128 a0001c0001t0149 a0001c0001t0171 a0001c0001t0193 a0001c0001t0200 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0046 a0001c0002t0084 a0001c0002t0195 a0001c0003t0076 a0001c0003t0185 a0001c0003t0187 a0001c0003t0208 a0001c0003t0211 a0001c0006t0015 a0001c0006t0093 a0002c0005t0003 a0002c0005t0011 a0002c0005t0101 a0002c0005t0190 a0002c0005t0204 a0003c0008t0071 a0003c0008t0112 a0005c0012t0028 a0008c0029t0116 a0014c0022t0181 a0020c0014t0100 a0021c0013t0010	a0001c0001t0001g0027 a0001c0001t0001g0343 a0001c0001t0002g0018 others(49): Show a0001c0001t0001g0027 a0001c0001t0001g0343 a0001c0001t0002g0018 a0001c0001t0004g0277 a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0001t0012g0258 a0001c0001t0012g0273 a0001c0001t0020g0288 a0001c0001t0024g0290 a0001c0001t0025g0297 a0001c0001t0027g0301 a0001c0001t0034g0257 a0001c0001t0040g0256 a0001c0001t0040g0272 a0001c0001t0046g0298 a0001c0001t0079g0291 a0001c0001t0099g0259 a0001c0001t0102g0339 a0001c0001t0114g0282 a0001c0001t0117g0270 a0001c0001t0120g0280 a0001c0001t0128g0274 a0001c0001t0149g0019 a0001c0001t0171g0260 a0001c0001t0193g0302 a0001c0001t0200g0287 a0001c0002t0003g0299 a0001c0002t0006g0283 a0001c0002t0007g0285 a0001c0002t0046g0300 a0001c0002t0084g0284 a0001c0002t0195g0286 a0001c0003t0076g0289 a0001c0003t0185g0303 a0001c0003t0187g0271 a0001c0003t0208g0281 a0001c0003t0211g0293 a0001c0006t0015g0229 a0001c0006t0093g0294 a0002c0005t0003g0296 a0002c0005t0011g0292 a0002c0005t0101g0160 a0002c0005t0190g0278 a0002c0005t0204g0295 a0003c0008t0071g0304 a0003c0008t0112g0305 a0005c0012t0028g0003 a0008c0029t0116g0335 a0014c0022t0181g0279 a0020c0014t0100g0275 a0021c0013t0010g0276	53	346	0.1532	-28	c.55+ others(45): Show c.55+10023_55+10050delCACACACACACACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOF_chr10_93301429_93487334	93303545	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0002 a0024c0034t0002	a0024c0034t0002g0185 a0024c0034t0002g0185	1	240	0.0042	-28	c.33 others(39): Show c.3390_*3417delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		2883		chr10	TogoVar
MYOF_chr10_93301429_93487334	93482845	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0060 a0001c0017t0001g0060	1	240	0.0042	-28	c.-67 others(37): Show c.-679_-652delTATATATATATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		512		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3159874	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp1 others(55): Show HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01515.hp1 HG01934.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02683.hp2 HG02976.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18964.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19011.hp2 NA19060.hp1 NA19084.hp2 NA19090.hp2 NA20805.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0021 a0027 a0031 a0036 a0039 a0041	a0001c0005 a0001c0011 a0001c0026 others(31): Show a0001c0005 a0001c0011 a0001c0026 a0001c0033 a0001c0034 a0001c0072 a0001c0074 a0002c0025 a0002c0044 a0002c0140 a0003c0004 a0003c0021 a0003c0031 a0003c0032 a0003c0083 a0003c0084 a0004c0043 a0005c0008 a0005c0017 a0005c0018 a0006c0014 a0006c0106 a0008c0041 a0009c0058 a0009c0059 a0011c0042 a0012c0009 a0013c0082 a0021c0120 a0027c0057 a0031c0068 a0036c0086 a0039c0085 a0041c0081	a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 others(39): Show a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0013 a0001c0011t0005 a0001c0026t0002 a0001c0033t0003 a0001c0034t0003 a0001c0034t0011 a0001c0072t0005 a0001c0074t0004 a0002c0025t0006 a0002c0044t0001 a0002c0140t0006 a0003c0004t0003 a0003c0021t0001 a0003c0021t0004 a0003c0031t0005 a0003c0032t0001 a0003c0083t0003 a0003c0084t0004 a0004c0043t0003 a0005c0008t0005 a0005c0017t0004 a0005c0018t0001 a0005c0018t0004 a0006c0014t0004 a0006c0106t0005 a0008c0041t0004 a0009c0058t0004 a0009c0059t0004 a0011c0042t0003 a0011c0042t0007 a0012c0009t0004 a0012c0009t0014 a0013c0082t0004 a0021c0120t0001 a0027c0057t0005 a0031c0068t0001 a0036c0086t0001 a0039c0085t0002 a0041c0081t0005	a0001c0005t0002g0061 a0001c0005t0005g0321 a0001c0005t0005g0328 others(55): Show a0001c0005t0002g0061 a0001c0005t0005g0321 a0001c0005t0005g0328 a0001c0005t0006g0215 a0001c0005t0013g0216 a0001c0011t0005g0298 a0001c0026t0002g0012 a0001c0026t0002g0015 a0001c0026t0002g0192 a0001c0033t0003g0257 a0001c0034t0003g0258 a0001c0034t0011g0325 a0001c0072t0005g0308 a0001c0074t0004g0306 a0002c0025t0006g0041 a0002c0025t0006g0175 a0002c0044t0001g0040 a0002c0140t0006g0228 a0003c0004t0003g0250 a0003c0021t0001g0168 a0003c0021t0004g0313 a0003c0021t0004g0327 a0003c0031t0005g0311 a0003c0031t0005g0323 a0003c0032t0001g0142 a0003c0083t0003g0225 a0003c0084t0004g0322 a0004c0043t0003g0207 a0004c0043t0003g0212 a0005c0008t0005g0278 a0005c0008t0005g0281 a0005c0008t0005g0290 a0005c0008t0005g0292 a0005c0017t0004g0287 a0005c0017t0004g0293 a0005c0017t0004g0294 a0005c0018t0001g0042 a0005c0018t0004g0268 a0005c0018t0004g0291 a0006c0014t0004g0314 a0006c0014t0004g0315 a0006c0014t0004g0320 a0006c0106t0005g0309 a0008c0041t0004g0317 a0009c0058t0004g0285 a0009c0059t0004g0286 a0011c0042t0003g0023 a0011c0042t0007g0020 a0012c0009t0004g0269 a0012c0009t0004g0272 a0012c0009t0014g0330 a0013c0082t0004g0310 a0021c0120t0001g0053 a0027c0057t0005g0279 a0031c0068t0001g0163 a0036c0086t0001g0095 a0039c0085t0002g0140 a0041c0081t0005g0326	58	330	0.1758	-28	c.150 others(47): Show c.1501+4376_1501+4403delGGAAGGAAGGAAGGAAGGAAGGAAGG AA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	10/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2041509	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02818.hp2 NA19068.hp2 HG02257.hp2 HG02818.hp2 NA19068.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0065 a0003c0001 a0004c0153 a0001c0065 a0003c0001 a0004c0153	a0001c0065t0001 a0003c0001t0001 a0004c0153t0001 a0001c0065t0001 a0003c0001t0001 a0004c0153t0001	a0001c0065t0001g0125 a0003c0001t0001g0351 a0004c0153t0001g0126 a0001c0065t0001g0125 a0003c0001t0001g0351 a0004c0153t0001g0126	3	403	0.0074	-28	c.-36 others(39): Show c.-3671_-3644delAAATATATATATATATATATATATATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding		3536		chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100109	TTTCTTTC others(21): Show TTTCTTTCCTTCCTTCCTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 NA19240.hp1 others(1): Show HG02622.hp2 HG03225.hp1 NA19240.hp1 NA20300.hp1	a0001 a0029 a0001 a0029	a0001c0003 a0001c0020 a0029c0183 a0001c0003 a0001c0020 a0029c0183	a0001c0003t0001 a0001c0020t0001 a0029c0183t0001 a0001c0003t0001 a0001c0020t0001 a0029c0183t0001	a0001c0003t0001g0046 a0001c0020t0001g0030 a0001c0020t0001g0052 others(1): Show a0001c0003t0001g0046 a0001c0020t0001g0030 a0001c0020t0001g0052 a0029c0183t0001g0119	4	403	0.0099	-28	c.244 others(45): Show c.2441-763_2441-736delTTTCCTTCCTTCCTTCTTTCCTTCCTTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYPN_chr10_68104488_68217017	68182211	TATATATA others(21): Show TATATATATATAACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp1 HG03195.hp2 HG03579.hp1	a0011 a0031 a0011 a0031	a0011c0014 a0031c0046 a0011c0014 a0031c0046	a0011c0014t0004 a0031c0046t0015 a0011c0014t0004 a0031c0046t0015	a0011c0014t0004g0172 a0031c0046t0015g0168 a0011c0014t0004g0172 a0031c0046t0015g0168	2	306	0.0065	-28	c.270 others(47): Show c.2704-6684_2704-6657delTAACACATATATATATAACATATATA TA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYPN_chr10_68104488_68217017	68182284	TATATATA others(21): Show TATATATATAACATATATATAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02257.hp2 others(2): Show HG01109.hp1 HG01243.hp2 HG02257.hp2 HG02572.hp2 HG02976.hp1	a0005 a0011 a0014 a0005 a0011 a0014	a0005c0010 a0011c0014 a0014c0017 others(1): Show a0005c0010 a0011c0014 a0014c0017 a0014c0062	a0005c0010t0002 a0011c0014t0013 a0014c0017t0010 others(1): Show a0005c0010t0002 a0011c0014t0013 a0014c0017t0010 a0014c0062t0009	a0005c0010t0002g0193 a0011c0014t0013g0109 a0011c0014t0013g0171 others(2): Show a0005c0010t0002g0193 a0011c0014t0013g0109 a0011c0014t0013g0171 a0014c0017t0010g0301 a0014c0062t0009g0004	5	306	0.0163	-28	c.270 others(47): Show c.2704-6585_2704-6558delTAACATATATATAACACACACATATA TA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYRIP_chr3_39804609_40265321	40110881	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	170	0.0118	-28	c.333 others(47): Show c.333-40148_333-40121delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40212130	GTATATAT others(21): Show GTATATATATATACATATATATACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp2 HG01192.hp2 others(30): Show HG00438.hp1 HG01168.hp2 HG01192.hp2 HG02027.hp1 HG02040.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 NA18947.hp2 NA18983.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0020 others(5): Show a0001c0001 a0001c0004 a0001c0020 a0002c0011 a0003c0007 a0004c0009 a0005c0013 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0004t0003 a0001c0020t0004 a0002c0011t0001 a0002c0011t0003 a0003c0007t0001 a0004c0009t0005 a0005c0013t0010 a0006c0016t0008	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0033 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0167 a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0003g0147 a0001c0001t0009g0161 a0001c0001t0012g0066 a0001c0004t0003g0023 a0001c0004t0003g0106 a0001c0004t0003g0165 a0001c0020t0004g0140 a0002c0011t0001g0159 a0002c0011t0001g0160 a0002c0011t0003g0034 a0003c0007t0001g0037 a0004c0009t0005g0101 a0004c0009t0005g0112 a0004c0009t0005g0113 a0004c0009t0005g0114 a0004c0009t0005g0116 a0005c0013t0010g0078 a0005c0013t0010g0133 a0006c0016t0008g0028 a0006c0016t0008g0139	33	170	0.1941	-28	c.190 others(47): Show c.1905+2048_1905+2075delTACATATATATACGTGTATATATATA TA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	1850182	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02135.hp2 HG02559.hp1 others(11): Show HG02083.hp2 HG02135.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0020 a0001c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0005t0002 a0001c0006t0001 a0001c0020t0005 a0001c0024t0020	a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0082 others(11): Show a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0004g0011 a0001c0001t0021g0053 a0001c0003t0001g0067 a0001c0003t0002g0017 a0001c0004t0001g0087 a0001c0004t0001g0102 a0001c0004t0004g0002 a0001c0005t0002g0076 a0001c0006t0001g0018 a0001c0020t0005g0081 a0001c0024t0020g0064	14	104	0.1346	-28	c.277 others(47): Show c.2774+1431_2774+1458delAAGGAAGGAAGGAAGGAAGGAAGGAA GG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	19/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2109875	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04204.hp1 HG03239.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0072 a0001c0004t0005g0073 a0001c0002t0001g0072 a0001c0004t0005g0073	2	104	0.0192	-28	c.-30 others(49): Show c.-303-55780_-303-55753delTATATATATATATATATATATATA TATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2217685	CAACAACA others(21): Show CAACAACAACAACAACAACAACAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0092 a0001c0005t0012g0092	1	104	0.0096	-28	c.-42 others(49): Show c.-420-44725_-420-44698delTTTTTTTGTTGTTGTTGTTGTTGT TGTT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688996	TATATATG others(21): Show TATATATGTGCACAATATACACATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp2 others(95): Show HG00099.hp1 HG00140.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0004t0001 a0002c0004t0002 a0003c0005t0004 a0005c0010t0001	a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 others(93): Show a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0004g0178 a0001c0001t0007g0244 a0001c0001t0008g0329 a0001c0001t0008g0332 a0001c0001t0020g0310 a0001c0003t0002g0024 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0032 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0061 a0001c0003t0002g0065 a0001c0003t0003g0119 a0001c0003t0003g0130 a0001c0003t0003g0137 a0001c0003t0003g0142 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0004g0110 a0001c0003t0004g0112 a0001c0003t0004g0113 a0001c0003t0004g0115 a0001c0003t0005g0091 a0001c0003t0006g0116 a0001c0003t0006g0117 a0001c0003t0006g0120 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0050 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0072 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0084 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0018g0016 a0002c0004t0001g0205 a0002c0004t0001g0206 a0002c0004t0001g0298 a0002c0004t0001g0302 a0002c0004t0002g0331 a0003c0005t0004g0334 a0003c0005t0004g0335 a0005c0010t0001g0159	98	352	0.2784	-28	c.44 others(39): Show c.4499_*4526delATATATGTGCACAATATACACATATATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3633		chr15	TogoVar
NAA15_chr4_139296505_139396384	139315013	TAGGTTAG others(21): Show TAGGTTAGGTTAGGTTAGGTTAGGTTAGG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	334	0.0030	-28	c.54+ others(45): Show c.54+13183_54+13210delAGGTTAGGTTAGGTTAGGTTAGGTTAGG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19			chr4	TogoVar
NAA25_chr12_112021689_112113783	112037275	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG03130.hp1 others(1): Show HG01891.hp2 HG02970.hp1 HG03130.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0046 a0003c0003t0001g0120 a0003c0003t0001g0121 others(1): Show a0001c0001t0003g0046 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0139	4	342	0.0117	-28	c.264 others(47): Show c.2649+1926_2649+1953delATATATATATATATATATATATATAT AT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	22/23			chr12	TogoVar
NAA25_chr12_112021689_112113783	112059075	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG02074.hp1 others(8): Show HG00544.hp2 HG00735.hp1 HG02074.hp1 HG02080.hp1 HG02148.hp1 HG02976.hp2 NA18943.hp2 NA18981.hp2 NA19000.hp1 NA19067.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0002 a0002c0002t0011 a0001c0001t0016 a0002c0002t0002 a0002c0002t0011	a0001c0001t0016g0253 a0002c0002t0002g0288 a0002c0002t0002g0296 others(8): Show a0001c0001t0016g0253 a0002c0002t0002g0288 a0002c0002t0002g0296 a0002c0002t0002g0299 a0002c0002t0002g0303 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0326 a0002c0002t0002g0330 a0002c0002t0002g0335 a0002c0002t0011g0332	11	342	0.0322	-28	c.144 others(47): Show c.1447+1167_1447+1194delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	13/23			chr12	TogoVar
NAA80_chr3_50291402_50304405	50304288	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	378	0.0027	-28	c.-53 others(39): Show c.-5313_-5286delATATATATATATATATATATTTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4884		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304290	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	3	378	0.0079	-28	c.-53 others(39): Show c.-5315_-5288delATATATATATATATATATATATTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4886		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304292	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18993.hp2 NA19060.hp1 others(1): Show NA18966.hp1 NA18993.hp2 NA19060.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0002 a0002c0002t0002g0006	4	378	0.0106	-28	c.-53 others(39): Show c.-5317_-5290delATATATATATATATATATATATATTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4888		chr3	TogoVar
NAALAD2_chr11_90129663_90197894	90192066	AAAACAGT others(21): Show AAAACAGTTTGGCAGTTTCCTATAAAGTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0010 a0002c0003t0017g0010	1	364	0.0028	-28	c.32 others(37): Show c.325_*352delGTTTGGCAGTTTCCTATAAAGTTAAACA	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	19/19	325	INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174885876	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp1 HG02055.hp1 HG03225.hp1	a0002 a0010 a0002 a0010	a0002c0005 a0010c0020 a0002c0005 a0010c0020	a0002c0005t0023 a0010c0020t0028 a0002c0005t0023 a0010c0020t0028	a0002c0005t0023g0045 a0010c0020t0028g0001 a0002c0005t0023g0045 a0010c0020t0028g0001	2	64	0.0313	-28	c.43+ others(45): Show c.43+26455_43+26482delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174894594	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 NA21309.hp2 HG01109.hp1 HG02615.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0004 a0002c0005 a0005c0006 a0002c0004 a0002c0005 a0005c0006	a0002c0004t0033 a0002c0005t0008 a0005c0006t0015 a0002c0004t0033 a0002c0005t0008 a0005c0006t0015	a0002c0004t0033g0022 a0002c0005t0008g0007 a0005c0006t0015g0008 a0002c0004t0033g0022 a0002c0005t0008g0007 a0005c0006t0015g0008	3	64	0.0469	-28	c.43+ others(45): Show c.43+35166_43+35193delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175314666	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA21309.hp1 HG01884.hp2 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0022 a0001c0001 a0014c0022	a0001c0001t0012 a0014c0022t0001 a0001c0001t0012 a0014c0022t0001	a0001c0001t0012g0031 a0014c0022t0001g0034 a0001c0001t0012g0031 a0014c0022t0001g0034	2	64	0.0313	-28	c.940 others(45): Show c.940-9480_940-9453delTATATATATATATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175504565	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01978.hp2 others(1): Show HG01074.hp2 HG01261.hp2 HG01978.hp2 HG02922.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0013 a0002c0004 a0005c0011 others(1): Show a0001c0013 a0002c0004 a0005c0011 a0006c0009	a0001c0013t0007 a0002c0004t0014 a0005c0011t0001 others(1): Show a0001c0013t0007 a0002c0004t0014 a0005c0011t0001 a0006c0009t0009	a0001c0013t0007g0021 a0002c0004t0014g0058 a0005c0011t0001g0053 others(1): Show a0001c0013t0007g0021 a0002c0004t0014g0058 a0005c0011t0001g0053 a0006c0009t0009g0061	4	64	0.0625	-28	c.165 others(49): Show c.1653+32836_1653+32863delTCTCTCTCTCTCTCTCTCTCTCTC TCTC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175667239	GAAAAAGA others(21): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0033 a0007c0012t0003g0033	1	64	0.0156	-28	c.189 others(49): Show c.1896+39855_1896+39882delAAAAGAAAGAAAGAAAGAAAGAAA GGAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697837	TTATGTAT others(21): Show TTATGTATACATATATATGTGTATATATG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03130.hp1 HG02300.hp2 HG03130.hp1	a0002 a0007 a0002 a0007	a0002c0004 a0007c0014 a0002c0004 a0007c0014	a0002c0004t0036 a0007c0014t0004 a0002c0004t0036 a0007c0014t0004	a0002c0004t0036g0047 a0007c0014t0004g0040 a0002c0004t0036g0047 a0007c0014t0004g0040	2	64	0.0313	-28	c.189 others(49): Show c.1897-39015_1897-38988delATACATATATATGTGTATATATGT ATGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698299	ATATGTGT others(21): Show ATATGTGTATATATGTATGTGTATTTATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0008 a0003c0003t0004 a0002c0005t0008 a0003c0003t0004	a0002c0005t0008g0007 a0003c0003t0004g0046 a0002c0005t0008g0007 a0003c0003t0004g0046	2	64	0.0313	-28	c.189 others(49): Show c.1897-38945_1897-38918delGTATATATGTATGTGTATTTATGT ATGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAGK_chr2_71063648_71084808	71081020	TTTTATTT others(21): Show TTTTATTTTATTTTATTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	442	0.0045	-28	c.25 others(39): Show c.2513_*2540delTTTATTTTATTTTATTTATTTTATTTTA	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1213		chr2	TogoVar
NALF1_chr13_107158510_107872496	107236671	GTCTATCT others(21): Show GTCTATCTATCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02622.hp2 others(2): Show HG02280.hp2 HG02451.hp1 HG02622.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0001t0059 a0001c0001t0062 others(2): Show a0001c0001t0053 a0001c0001t0059 a0001c0001t0062 a0001c0002t0035 a0001c0002t0072	a0001c0001t0053g0066 a0001c0001t0059g0036 a0001c0001t0062g0027 others(2): Show a0001c0001t0053g0066 a0001c0001t0059g0036 a0001c0001t0062g0027 a0001c0002t0035g0020 a0001c0002t0072g0083	5	128	0.0391	-28	c.916 others(47): Show c.916-25944_916-25917delTAGATAGATAGATAGATAGATAGATA GA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107639605	GTGTGTTT others(21): Show GTGTGTTTAGGAATGTATGCTCTCCTTCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01071.hp1 others(20): Show HG00408.hp2 HG00609.hp1 HG01071.hp1 HG01081.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02486.hp1 HG02615.hp2 HG02895.hp1 HG03453.hp2 NA18747.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0001t0032 a0001c0001t0045 a0001c0001t0048 a0001c0001t0061 a0001c0001t0074 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0002t0002 a0001c0002t0012 a0001c0002t0034 a0001c0002t0049 a0001c0006t0021 a0002c0003t0077 a0002c0003t0089	a0001c0001t0001g0061 a0001c0001t0002g0053 a0001c0001t0006g0112 others(20): Show a0001c0001t0001g0061 a0001c0001t0002g0053 a0001c0001t0006g0112 a0001c0001t0011g0057 a0001c0001t0015g0099 a0001c0001t0024g0013 a0001c0001t0032g0016 a0001c0001t0045g0039 a0001c0001t0048g0056 a0001c0001t0061g0040 a0001c0001t0074g0088 a0001c0001t0079g0114 a0001c0001t0081g0098 a0001c0001t0083g0116 a0001c0001t0085g0101 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0012g0085 a0001c0002t0034g0022 a0001c0002t0049g0074 a0001c0006t0021g0009 a0002c0003t0077g0125 a0002c0003t0089g0120	23	128	0.1797	-28	c.915 others(49): Show c.915+226049_915+226076delAGAAGGAGAGCATACATTCCTAAA CACA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	336	0.0030	-28	c.743 others(43): Show c.743+596_743+623delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOS1_chr10_119024714_119038730	119028610	AGAAGGAA others(21): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0000 a0001c0001t0029g0000	1	404	0.0025	-28	c.-11 others(39): Show c.-1191_-1164delGAAGGAAGGAAAGAAGGAAGGAAGGAAG	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding		1103		chr10	TogoVar
NANOS1_chr10_119024714_119038730	119028622	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(162): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0004 a0005 a0007 a0008	a0000c0002 a0000c0007 a0001c0001 others(7): Show a0000c0002 a0000c0007 a0001c0001 a0001c0006 a0001c0014 a0002c0003 a0004c0005 a0005c0011 a0007c0010 a0008c0009	a0000c0002t0001 a0000c0002t0016 a0000c0007t0001 others(21): Show a0000c0002t0001 a0000c0002t0016 a0000c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0006t0019 a0001c0006t0032 a0001c0014t0001 a0002c0003t0001 a0002c0003t0006 a0004c0005t0001 a0005c0011t0001 a0007c0010t0008 a0008c0009t0001	a0000c0002t0001g0000 a0000c0002t0016g0000 a0000c0007t0001g0000 others(21): Show a0000c0002t0001g0000 a0000c0002t0016g0000 a0000c0007t0001g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0033g0000 a0001c0006t0019g0000 a0001c0006t0032g0000 a0001c0014t0001g0000 a0002c0003t0001g0000 a0002c0003t0006g0000 a0004c0005t0001g0000 a0005c0011t0001g0000 a0007c0010t0008g0000 a0008c0009t0001g0000	165	404	0.4084	-28	c.-11 others(39): Show c.-1179_-1152delGAAGGAAGGAAGGAAGGAAGGAAGGAAG	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding		1091		chr10	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 NA18906.hp2 HG02257.hp1 HG02723.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0023 a0001c0002t0005 a0001c0002t0023	a0001c0002t0005g0259 a0001c0002t0023g0273 a0001c0002t0023g0274 a0001c0002t0005g0259 a0001c0002t0023g0273 a0001c0002t0023g0274	3	356	0.0084	-28	c.-20 others(45): Show c.-20-2338_-20-2311delATATATATATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAPEPLD_chr7_103094776_103154099	103113601	CTTTTTTT others(21): Show CTTTTTTTTTTAAGACAGAGTCTCACTTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18959.hp1 NA18985.hp1 HG02165.hp1 NA18959.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0114 a0001c0001t0002g0130 a0001c0001t0005g0094 a0001c0001t0002g0114 a0001c0001t0002g0130 a0001c0001t0005g0094	3	381	0.0079	-28	c.105 others(47): Show c.1056+1431_1056+1458delAAAGTGAGACTCTGTCTTAAAAAAAA AA	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding	4/4			chr7	TogoVar
NAPEPLD_chr7_103094776_103154099	103151311	TGGGTGTG others(21): Show TGGGTGTGTGAGGTCAAAGTGCTACCTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	381	0.0026	-28	c.-25 others(39): Show c.-2545_-2518delTCAGGTAGCACTTTGACCTCACACACCC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		2213		chr7	TogoVar
NARS2_chr11_78430968_78579864	78505269	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp1 HG02886.hp1 others(1): Show HG01081.hp1 HG02647.hp1 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	4	294	0.0136	-28	c.690 others(47): Show c.690-12102_690-12075delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586281	TGTGGTGT others(21): Show TGTGGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	300	0.0033	-28	c.59+ others(43): Show c.59+2080_59+2107delGTGTGTGTGTGTGTGTGTGTGTGTGGTG	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201756794	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp1 HG01517.hp1 others(21): Show HG01257.hp2 HG01496.hp1 HG01517.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18940.hp2 NA19068.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0016 a0018	a0001c0001 a0001c0006 a0001c0031 others(13): Show a0001c0001 a0001c0006 a0001c0031 a0002c0002 a0003c0004 a0003c0029 a0003c0030 a0005c0005 a0006c0008 a0009c0012 a0010c0018 a0011c0032 a0012c0022 a0014c0027 a0016c0025 a0018c0019	a0001c0001t0001 a0001c0001t0008 a0001c0001t0047 others(19): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0047 a0001c0001t0056 a0001c0001t0068 a0001c0001t0084 a0001c0001t0087 a0001c0006t0021 a0001c0031t0051 a0002c0002t0012 a0003c0004t0006 a0003c0029t0006 a0003c0030t0006 a0005c0005t0046 a0006c0008t0057 a0009c0012t0020 a0010c0018t0026 a0011c0032t0024 a0012c0022t0031 a0014c0027t0004 a0016c0025t0017 a0018c0019t0042	a0001c0001t0001g0124 a0001c0001t0008g0088 a0001c0001t0047g0200 others(21): Show a0001c0001t0001g0124 a0001c0001t0008g0088 a0001c0001t0047g0200 a0001c0001t0056g0078 a0001c0001t0068g0162 a0001c0001t0084g0156 a0001c0001t0087g0041 a0001c0006t0021g0201 a0001c0006t0021g0210 a0001c0031t0051g0107 a0002c0002t0012g0053 a0002c0002t0012g0065 a0003c0004t0006g0123 a0003c0029t0006g0116 a0003c0030t0006g0207 a0005c0005t0046g0195 a0006c0008t0057g0118 a0009c0012t0020g0050 a0010c0018t0026g0139 a0011c0032t0024g0134 a0012c0022t0031g0197 a0014c0027t0004g0077 a0016c0025t0017g0204 a0018c0019t0042g0141	24	210	0.1143	-28	c.208 others(49): Show c.2088-23612_2088-23585delCTTCTTTCTTTCTTTCTTTCTTTC TTTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	20106147	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02723.hp1 HG02723.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0041 a0002c0015 a0003c0041	a0002c0015t0016 a0003c0041t0028 a0002c0015t0016 a0003c0041t0028	a0002c0015t0016g0153 a0003c0041t0028g0138 a0002c0015t0016g0153 a0003c0041t0028g0138	2	166	0.0121	-28	c.684 others(45): Show c.6841+450_6841+477delGTGTGTGTATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106183	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0005 a0001c0084t0005	a0001c0084t0005g0075 a0001c0084t0005g0075	1	166	0.0060	-28	c.684 others(45): Show c.6841+476_6841+503delATATATATATATATATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	77833953	GTGTGTTC others(21): Show GTGTGTTCCTTTCGACGTCCAGCCGCTTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0029 a0003c0031t0029	a0003c0031t0029g0178 a0003c0031t0029g0178	1	186	0.0054	-28	c.243 others(45): Show c.243+2277_243+2304delATGTGTTCCTTTCGACGTCCAGCCGCTT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBAS_chr2_15161916_15566334	15164812	GTTCCTTC others(21): Show GTTCCTTCTTTTTCTCTTCCCCCCTCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	224	0.0045	-28	c.22 others(39): Show c.2208_*2235delGGGGAGGGGGGAAGAGAAAAAGAAGGAA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding		2103		chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203161628	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0054 a0001c0001t0041g0054	1	292	0.0034	-28	c.571 others(47): Show c.5714+3831_5714+3858delTAAATAAATAAATAAATAAATAAATA AA	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	36/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEA_chr13_34937270_35677736	35634987	CCAGAAGA others(21): Show CCAGAAGATAGATGTGTCTTTAACCAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG03471.hp1 others(1): Show HG02976.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0008 a0001c0001 a0001c0003 a0004c0008	a0001c0001t0015 a0001c0003t0001 a0004c0008t0001 a0001c0001t0015 a0001c0003t0001 a0004c0008t0001	a0001c0001t0015g0110 a0001c0003t0001g0005 a0004c0008t0001g0121 others(1): Show a0001c0001t0015g0110 a0001c0003t0001g0005 a0004c0008t0001g0121 a0004c0008t0001g0122	4	122	0.0328	-28	c.761 others(47): Show c.7617+6743_7617+6770delAAGATAGATGTGTCTTTAACCAAAAC AG	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	49/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF10_chr1_146059711_146149804	146076276	CACACACA others(21): Show CACACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0132 a0132	a0132c0141 a0132c0141	a0132c0141t0005 a0132c0141t0005	a0132c0141t0005g0138 a0132c0141t0005g0138	1	283	0.0035	-28	c.962 others(45): Show c.9624-263_9624-236delCTGTGTGTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146076282	CACACACA others(21): Show CACACACACACACACACACACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0019 a0019	a0019c0064 a0019c0064	a0019c0064t0020 a0019c0064t0020	a0019c0064t0020g0080 a0019c0064t0020g0080	1	283	0.0035	-28	c.962 others(45): Show c.9624-269_9624-242delCTCTCTCTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89			chr1	TogoVar

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