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
MYO9A_chr15_71817291_72123150	71956328	A A	AATTATAT others(16): Show AATTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	308	0.0033	23	c.218 others(42): Show c.2182+3572_2182+3573insATATATATATATATATATATAAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYOCD_chr17_12660890_12773949	12697360	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0254 a0001c0004t0003g0254	1	346	0.0029	23	c.56- others(38): Show c.56-7768_56-7767insATATATATATATATATATATATA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13			chr17	TogoVar
MYOF_chr10_93301429_93487334	93369110	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03130.hp1 others(1): Show HG02630.hp1 HG02818.hp2 HG03130.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0037 a0001c0004 a0005c0037	a0001c0004t0003 a0001c0004t0004 a0005c0037t0003 a0001c0004t0003 a0001c0004t0004 a0005c0037t0003	a0001c0004t0003g0230 a0001c0004t0003g0234 a0001c0004t0004g0012 others(1): Show a0001c0004t0003g0230 a0001c0004t0003g0234 a0001c0004t0004g0012 a0005c0037t0003g0231	4	240	0.0167	23	c.258 others(40): Show c.2589+534_2589+535insAAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	25/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	240	0.0042	23	c.88+ others(38): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	240	0.0042	23	c.88+ others(38): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93483368	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03453.hp1 HG02257.hp2 HG03453.hp1	a0003 a0015 a0003 a0015	a0003c0007 a0015c0028 a0003c0007 a0015c0028	a0003c0007t0001 a0015c0028t0006 a0003c0007t0001 a0015c0028t0006	a0003c0007t0001g0120 a0015c0028t0006g0121 a0003c0007t0001g0120 a0015c0028t0006g0121	2	240	0.0083	23	c.-11 others(34): Show c.-1175_-1174insAAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		1035		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG04115.hp2 HG01884.hp2 HG03130.hp2 HG04115.hp2	a0004 a0007 a0068 a0004 a0007 a0068	a0004c0128 a0007c0016 a0068c0152 a0004c0128 a0007c0016 a0068c0152	a0004c0128t0001 a0007c0016t0001 a0068c0152t0006 a0004c0128t0001 a0007c0016t0001 a0068c0152t0006	a0004c0128t0001g0165 a0007c0016t0001g0155 a0068c0152t0006g0219 a0004c0128t0001g0165 a0007c0016t0001g0155 a0068c0152t0006g0219	3	330	0.0091	23	c.27 others(34): Show c.2727_*2728insTATATATATATATATATATATAT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTTATATA others(16): Show TTTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG02970.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0002c0187 a0003c0035 a0002c0015 a0002c0187 a0003c0035	a0002c0015t0001 a0002c0187t0001 a0003c0035t0003 a0002c0015t0001 a0002c0187t0001 a0003c0035t0003	a0002c0015t0001g0179 a0002c0187t0001g0010 a0003c0035t0003g0249 a0002c0015t0001g0179 a0002c0187t0001g0010 a0003c0035t0003g0249	3	330	0.0091	23	c.27 others(34): Show c.2727_*2728insTATATATATATATATATATATAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM2_chr8_2040046_2150456	2054879	C C	CACCTGGA others(16): Show CACCTGGATACTGGGGAACCAAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00639.hp1 others(48): Show HG00140.hp1 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp2 NA18951.hp1 NA18979.hp1 NA18989.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0011 a0012 a0025 a0026 a0027 a0028 a0030 a0032 a0034 a0052 a0058 a0059 a0076 a0080 a0085 a0086	a0001c0020 a0001c0095 a0001c0103 others(38): Show a0001c0020 a0001c0095 a0001c0103 a0002c0006 a0002c0015 a0002c0016 a0002c0040 a0002c0042 a0002c0086 a0002c0097 a0002c0120 a0002c0122 a0002c0123 a0003c0001 a0003c0004 a0004c0007 a0004c0049 a0004c0153 a0004c0158 a0004c0159 a0011c0176 a0011c0177 a0011c0178 a0011c0184 a0012c0011 a0025c0188 a0025c0189 a0026c0174 a0026c0175 a0027c0053 a0028c0052 a0030c0054 a0032c0072 a0034c0094 a0052c0186 a0058c0150 a0059c0148 a0076c0106 a0080c0141 a0085c0110 a0086c0085	a0001c0020t0001 a0001c0095t0001 a0001c0103t0001 others(38): Show a0001c0020t0001 a0001c0095t0001 a0001c0103t0001 a0002c0006t0001 a0002c0015t0001 a0002c0016t0001 a0002c0040t0001 a0002c0042t0002 a0002c0086t0006 a0002c0097t0006 a0002c0120t0001 a0002c0122t0001 a0002c0123t0001 a0003c0001t0001 a0003c0004t0002 a0004c0007t0001 a0004c0049t0001 a0004c0153t0001 a0004c0158t0002 a0004c0159t0001 a0011c0176t0001 a0011c0177t0001 a0011c0178t0001 a0011c0184t0001 a0012c0011t0001 a0025c0188t0001 a0025c0189t0001 a0026c0174t0001 a0026c0175t0001 a0027c0053t0001 a0028c0052t0002 a0030c0054t0001 a0032c0072t0002 a0034c0094t0001 a0052c0186t0001 a0058c0150t0001 a0059c0148t0002 a0076c0106t0001 a0080c0141t0001 a0085c0110t0001 a0086c0085t0002	a0001c0020t0001g0030 a0001c0020t0001g0052 a0001c0095t0001g0031 others(46): Show a0001c0020t0001g0030 a0001c0020t0001g0052 a0001c0095t0001g0031 a0001c0103t0001g0346 a0002c0006t0001g0006 a0002c0006t0001g0027 a0002c0006t0001g0044 a0002c0015t0001g0191 a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0016t0001g0039 a0002c0040t0001g0054 a0002c0042t0002g0135 a0002c0086t0006g0190 a0002c0097t0006g0050 a0002c0120t0001g0007 a0002c0122t0001g0193 a0002c0123t0001g0192 a0003c0001t0001g0379 a0003c0004t0002g0040 a0004c0007t0001g0043 a0004c0049t0001g0141 a0004c0049t0001g0378 a0004c0153t0001g0126 a0004c0158t0002g0380 a0004c0159t0001g0041 a0011c0176t0001g0053 a0011c0177t0001g0058 a0011c0178t0001g0086 a0011c0184t0001g0055 a0012c0011t0001g0003 a0012c0011t0001g0042 a0025c0188t0001g0056 a0025c0189t0001g0059 a0026c0174t0001g0061 a0026c0175t0001g0060 a0027c0053t0001g0002 a0028c0052t0002g0063 a0028c0052t0002g0064 a0030c0054t0001g0005 a0032c0072t0002g0028 a0034c0094t0001g0029 a0052c0186t0001g0057 a0058c0150t0001g0036 a0059c0148t0002g0035 a0076c0106t0001g0065 a0080c0141t0001g0062 a0085c0110t0001g0194 a0086c0085t0002g0034	51	403	0.1266	23	c.264 others(40): Show c.264-2436_264-2414dupCTGGGGAACCAAGTACCTGGATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085594	C C	CCCACTGT others(16): Show CCCACTGTCATGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0117 a0001c0117	a0001c0117t0004 a0001c0117t0004	a0001c0117t0004g0283 a0001c0117t0004g0283	1	403	0.0025	23	c.164 others(40): Show c.1644+212_1644+213insATGATCTCTGGCACTCCACTGTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085671	G G	GCCCCACT others(16): Show GCCCCACTGTCATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0088 a0002c0088	a0002c0088t0002 a0002c0088t0002	a0002c0088t0002g0023 a0002c0088t0002g0023	1	403	0.0025	23	c.164 others(40): Show c.1644+291_1644+292insATGATCTCTGGCACCCCACTGTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086197	T T	TGGCACTC others(16): Show TGGCACTCCACTGTCGTGATCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02602.hp2 HG01361.hp1 HG02602.hp2	a0040 a0067 a0040 a0067	a0040c0060 a0067c0076 a0040c0060 a0067c0076	a0040c0060t0001 a0067c0076t0001 a0040c0060t0001 a0067c0076t0001	a0040c0060t0001g0345 a0067c0076t0001g0011 a0040c0060t0001g0345 a0067c0076t0001g0011	2	403	0.0050	23	c.164 others(40): Show c.1644+808_1644+809insGCACTCCACTGTCGTGATCTCCG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24061768	A A	AATGTTGC others(16): Show AATGTTGCCCAGGCTGGTCTCACT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0046 a0046	a0046c0053 a0046c0053	a0046c0053t0001 a0046c0053t0001	a0046c0053t0001g0061 a0046c0053t0001g0061	1	364	0.0028	23	c.393 others(40): Show c.3934+155_3934+177dupAGTGAGACCAGCCTGGGCAACAT	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	33/36			chr1	TogoVar
MYOZ2_chr4_119130832_119192789	119134252	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	394	0.0025	23	c.-17 others(34): Show c.-1745_-1744insGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1579		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00609.hp2 others(28): Show HG00099.hp1 HG00544.hp1 HG00609.hp2 HG01123.hp1 HG01168.hp1 HG01358.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02809.hp1 HG02976.hp2 HG03516.hp2 HG04184.hp1 HG06807.hp2 NA18941.hp1 NA18952.hp2 NA18957.hp1 NA18973.hp2 NA18980.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0104 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0226 a0001c0001t0001g0244 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0205 a0001c0001t0004g0208 a0002c0003t0002g0086 a0002c0003t0002g0099 a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0003t0002g0120	31	394	0.0787	23	c.-17 others(34): Show c.-1737_-1736insGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01346.hp1 HG02129.hp1 others(9): Show HG00438.hp1 HG01346.hp1 HG02129.hp1 HG02809.hp2 HG03540.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18990.hp1 NA18999.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0195 a0001c0001t0001g0209 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0002g0011 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0003g0125 a0001c0001t0003g0170 a0001c0001t0004g0014 a0001c0002t0001g0016	12	394	0.0305	23	c.-17 others(34): Show c.-1733_-1732insGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134268	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG03831.hp2 NA18950.hp2 others(1): Show HG02293.hp1 HG03831.hp2 NA18950.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0129 a0001c0001t0004g0212 a0001c0001t0004g0221 others(1): Show a0001c0001t0003g0129 a0001c0001t0004g0212 a0001c0001t0004g0221 a0001c0001t0004g0239	4	394	0.0102	23	c.-17 others(34): Show c.-1729_-1728insGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1563		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134272	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02071.hp1 HG02080.hp1 others(11): Show HG00609.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02647.hp1 HG02717.hp1 NA18947.hp2 NA18961.hp1 NA18980.hp2 NA18995.hp1 NA19009.hp1 NA19063.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0003g0160 a0001c0001t0003g0278 a0001c0001t0005g0266 a0001c0001t0005g0268	14	394	0.0355	23	c.-17 others(34): Show c.-1725_-1724insGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1559		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134276	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	394	0.0025	23	c.-17 others(34): Show c.-1721_-1720insGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1555		chr4	TogoVar
MYOZ3_chr5_150656251_150684368	150683282	G G	GACCATCC others(16): Show GACCATCCTGGCTAACACAGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	394	0.0025	23	c.64 others(34): Show c.6407_*6408insACCATCCTGGCTAACACAGTGAA	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding		3915		chr5	TogoVar
MYRFL_chr12_69820227_69964097	69945986	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp1 HG01496.hp1 others(1): Show HG01071.hp1 HG01243.hp1 HG01496.hp1 HG01928.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0011 a0006c0009 a0002c0002 a0002c0011 a0006c0009	a0002c0002t0003 a0002c0011t0003 a0006c0009t0003 a0002c0002t0003 a0002c0011t0003 a0006c0009t0003	a0002c0002t0003g0137 a0002c0011t0003g0238 a0006c0009t0003g0221 others(1): Show a0002c0002t0003g0137 a0002c0011t0003g0238 a0006c0009t0003g0221 a0006c0009t0003g0223	4	322	0.0124	23	c.222 others(42): Show c.2225-6121_2225-6099dupAAAAAAAAAAAAAAAAAAAAAAA	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40060596	T T	TAGAGAGA others(16): Show TAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0089 a0001c0006t0006g0089	1	170	0.0059	23	c.332 others(42): Show c.332+16325_332+16326insAGAGAGAGAGAGAGAGAGAGAGA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40108289	T T	TTTTTAAG others(16): Show TTTTTAAGGCATGTTGTGTGGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(57): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA19002.hp1 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19080.hp2 NA19085.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0001c0015 a0001c0020 a0002c0005 a0002c0010 a0003c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0016 a0001c0004t0003 a0001c0006t0002 a0001c0014t0001 a0001c0015t0001 a0001c0020t0004 a0002c0005t0004 a0002c0010t0014 a0003c0003t0002 a0003c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0109 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0156 a0001c0001t0003g0047 a0001c0001t0003g0138 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0009g0136 a0001c0001t0011g0115 a0001c0001t0012g0066 a0001c0002t0002g0001 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0030 a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0077 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0158 a0001c0002t0016g0054 a0001c0004t0003g0023 a0001c0004t0003g0106 a0001c0004t0003g0165 a0001c0006t0002g0019 a0001c0014t0001g0036 a0001c0015t0001g0008 a0001c0020t0004g0140 a0002c0005t0004g0170 a0002c0010t0014g0035 a0003c0003t0002g0051 a0003c0003t0002g0145 a0003c0007t0001g0118	60	170	0.3529	23	c.333 others(42): Show c.333-42759_333-42758insTTTTAAGGCATGTTGTGTGGGAC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40192309	C C	CATATATA others(16): Show CATATATATATGACATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	170	0.0059	23	c.166 others(42): Show c.1665+1856_1665+1857insGACATATATATATATATATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651443	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0195 a0007c0009t0001g0195	1	410	0.0024	23	c.85 others(34): Show c.8553_*8554insCACACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3299		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0363 a0005c0006t0011g0363	1	410	0.0024	23	c.68+ others(38): Show c.68+1882_68+1883insATATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0185 a0001c0001t0009g0185	1	410	0.0024	23	c.68+ others(38): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	410	0.0024	23	c.68+ others(38): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698103	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0349 a0004c0004t0003g0349	1	410	0.0024	23	c.68+ others(38): Show c.68+1881_68+1882insTATATATATATATATATATATAT	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	2205989	T T	TTTTCTTT others(16): Show TTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	104	0.0096	23	c.-42 others(44): Show c.-420-33002_-420-33001insGAAAGAAAAGAAAAGAAAAGAAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02027.hp2 HG02723.hp2 others(2): Show HG01175.hp1 HG02027.hp2 HG02723.hp2 HG03209.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0176 a0001c0001t0001g0221 a0001c0001t0001g0236 others(2): Show a0001c0001t0001g0176 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0005g0122	5	352	0.0142	23	c.163 others(40): Show c.163-1208_163-1186dupTTTTTTTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688396	A A	ACTCTATA others(16): Show ACTCTATATGTGTACATTGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0310 a0001c0001t0020g0310	1	352	0.0028	23	c.38 others(34): Show c.3898_*3899insCTCTATATGTGTACATTGTACAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3033		chr15	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01258.hp1 others(19): Show HG00408.hp1 HG00438.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01952.hp1 HG01993.hp2 HG02258.hp1 HG02602.hp1 HG02683.hp1 NA18943.hp1 NA18945.hp1 NA18960.hp2 NA18983.hp2 NA18988.hp2 NA18999.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19082.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0013 a0008c0008 a0001c0001 a0004c0013 a0008c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0001t0041 a0001c0001t0043 a0004c0013t0004 a0008c0008t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0086 others(16): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0086 a0001c0001t0003g0105 a0001c0001t0003g0236 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0020 a0001c0001t0004g0049 a0001c0001t0004g0063 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0005g0047 a0001c0001t0011g0022 a0001c0001t0024g0106 a0001c0001t0041g0045 a0001c0001t0043g0048 a0004c0013t0004g0071 a0008c0008t0003g0157	22	394	0.0558	23	c.-23 others(34): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
N6AMT1_chr21_28867191_28890367	28869773	C C	CATAAGCA others(16): Show CATAAGCAATAAATTTTTAGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	422	0.0024	23	c.66 others(34): Show c.6611_*6612insCACACTAAAAATTTATTGCTTAT	N6AMT1	ENSG00000156239.12	transcript	ENST00000303775.10	protein_coding		2417		chr21	TogoVar
NAA16_chr13_41306267_41382030	41314481	G G	GCAGAATC others(16): Show GCAGAATCACCTAGTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG01361.hp2 others(19): Show HG00423.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp2 HG01993.hp2 HG02055.hp1 HG02135.hp2 HG02486.hp2 HG02809.hp1 HG03486.hp1 HG03927.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp2 NA19055.hp1 NA19059.hp2 NA19080.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0016 a0001c0002 a0008c0016	a0001c0002t0007 a0001c0002t0009 a0008c0016t0016 a0001c0002t0007 a0001c0002t0009 a0008c0016t0016	a0001c0002t0007g0002 a0001c0002t0007g0157 a0001c0002t0007g0158 others(13): Show a0001c0002t0007g0002 a0001c0002t0007g0157 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0007g0161 a0001c0002t0007g0162 a0001c0002t0007g0163 a0001c0002t0009g0016 a0001c0002t0009g0164 a0001c0002t0009g0165 a0001c0002t0009g0166 a0001c0002t0009g0167 a0001c0002t0009g0168 a0001c0002t0009g0169 a0001c0002t0009g0312 a0008c0016t0016g0160	22	354	0.0622	23	c.55- others(38): Show c.55-2360_55-2338dupATCACCTAGTTCCCTTCCCCAGA	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAA25_chr12_112021689_112113783	112113566	A A	AAGGAGGA others(16): Show AAGGAGGAGGAGGAGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01071.hp1 others(86): Show HG00544.hp2 HG00597.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02717.hp2 HG02809.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 others(3): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0017 a0002c0004t0002	a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 others(84): Show a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0302 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0320 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0338 a0002c0002t0011g0332 a0002c0002t0013g0321 a0002c0002t0013g0328 a0002c0002t0014g0337 a0002c0002t0017g0319 a0002c0004t0002g0260 a0002c0004t0002g0297 a0002c0004t0002g0301 a0002c0004t0002g0318	89	342	0.2602	23	c.-47 others(34): Show c.-4794_-4793insCTCCTCCTCCTCCTCCTCCTCCT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding		4784		chr12	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	23	c.-52 others(34): Show c.-5294_-5293insATATATATATATATTTTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	23	c.-52 others(34): Show c.-5294_-5293insATATATATATATATATTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAALAD2_chr11_90129663_90197894	90155059	T T	TATACATA others(16): Show TATACATATGTATATATTATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	364	0.0028	23	c.796 others(40): Show c.796+2591_796+2592insTATATACATACATATGTATATAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175232234	G G	GAAGAGGA others(16): Show GAAGAGGAAGAGGAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01978.hp1 HG02300.hp1 others(7): Show HG01074.hp2 HG01978.hp1 HG02300.hp1 HG02451.hp1 HG02922.hp1 HG02965.hp2 HG03453.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0013 a0003c0003 others(4): Show a0001c0001 a0001c0013 a0003c0003 a0003c0007 a0004c0002 a0004c0008 a0006c0009	a0001c0001t0031 a0001c0001t0035 a0001c0013t0007 others(7): Show a0001c0001t0031 a0001c0001t0035 a0001c0013t0007 a0003c0003t0001 a0003c0003t0004 a0003c0007t0024 a0004c0002t0026 a0004c0008t0002 a0006c0009t0009 a0006c0009t0025	a0001c0001t0031g0026 a0001c0001t0035g0027 a0001c0013t0007g0021 others(7): Show a0001c0001t0031g0026 a0001c0001t0035g0027 a0001c0013t0007g0021 a0003c0003t0001g0056 a0003c0003t0004g0020 a0003c0007t0024g0049 a0004c0002t0026g0011 a0004c0008t0002g0062 a0006c0009t0009g0061 a0006c0009t0025g0035	10	64	0.1563	23	c.546 others(40): Show c.546-1696_546-1695insAGAGGAAGAGGAAGAAGAAAGAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190688792	C C	CTTCCTTT others(16): Show CTTCCTTTCTTTCCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG03516.hp1 others(1): Show HG02630.hp2 HG03453.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0241 a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0241	4	374	0.0107	23	c.137 others(42): Show c.1376-1440_1376-1418dupCTTTCTTTTCTTTCCTTTCTTTC	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0001 a0001c0001t0021g0001	1	394	0.0025	23	c.46 others(34): Show c.4671_*4672insTATATATATATATATATATTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03942.hp1 HG02083.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0002 a0001c0001t0003g0017	2	394	0.0051	23	c.46 others(34): Show c.4671_*4672insTATATATATATATTTTTTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NAGA_chr22_42053334_42075812	42057901	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	23	c.23 others(34): Show c.2377_*2378insAAATATATATATATATATATATA	NAGA	ENSG00000198951.12	transcript	ENST00000396398.8	protein_coding		432		chr22	TogoVar
NAGK_chr2_71063648_71084808	71076368	T T	TGGGGGCC others(16): Show TGGGGGCCTGAGTGAGCACCTCTG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	442	0.0023	23	c.668 others(38): Show c.668-235_668-213dupGGGGGCCTGAGTGAGCACCTCTG	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAIP_chr5_70963166_71030339	71027763	A A	AAAGGAGC others(16): Show AAAGGAGCCCCTTCTGGAGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0122 a0002c0002t0008g0122	1	141	0.0071	23	c.-33 others(34): Show c.-3368_-3367insCATCACTCCAGAAGGGGCTCCTT	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding		2425		chr5	TogoVar
NALF1_chr13_107158510_107872496	107340475	T T	TTCTTTCT others(16): Show TTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0020 a0001c0002t0035g0020	1	128	0.0078	23	c.916 others(44): Show c.916-129721_916-129720insGAGAAGAAAGAAAGAAAGAAAGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0090 a0001c0001t0088g0090	1	128	0.0078	23	c.916 others(44): Show c.916-228095_916-228073dupTTTTTTTTTTTTTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19065.hp1 NA20300.hp2 HG01167.hp1 NA19065.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0053 a0001c0001t0001g0099 a0001c0001t0001g0100	3	336	0.0089	23	c.743 others(38): Show c.743+601_743+623dupTTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG00735.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	460	0.0044	23	c.102 others(38): Show c.102+202_102+203insAAAAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar

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