JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYOCD_chr17_12660890_12773949	12669424	CCCACCCC others(17): Show CCCACCCCCACAAATATAACCTTGT	C C	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	346	0.0029	-24	c.55+ others(39): Show c.55+3182_55+3205delCCACCCCCACAAATATAACCTTGT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13			chr17	TogoVar
MYOF_chr10_93301429_93487334	93428566	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0197 a0006c0008t0002g0197	1	240	0.0042	-24	c.346 others(41): Show c.346-2432_346-2409delGTGTGTGTGTGTGTGTGTGTGTGT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	4/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482845	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0050 a0013c0027t0001g0050	1	240	0.0042	-24	c.-67 others(33): Show c.-675_-652delTATATATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		512		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3085229	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02451.hp1 others(3): Show HG01192.hp2 HG01243.hp2 HG02451.hp1 HG03225.hp2 HG04115.hp2 NA19043.hp1	a0002 a0007 a0068 a0002 a0007 a0068	a0002c0025 a0002c0117 a0002c0141 others(3): Show a0002c0025 a0002c0117 a0002c0141 a0002c0185 a0007c0006 a0068c0152	a0002c0025t0001 a0002c0117t0001 a0002c0141t0001 others(3): Show a0002c0025t0001 a0002c0117t0001 a0002c0141t0001 a0002c0185t0001 a0007c0006t0001 a0068c0152t0006	a0002c0025t0001g0008 a0002c0117t0001g0121 a0002c0141t0001g0160 others(3): Show a0002c0025t0001g0008 a0002c0117t0001g0121 a0002c0141t0001g0160 a0002c0185t0001g0183 a0007c0006t0001g0080 a0068c0152t0006g0219	6	330	0.0182	-24	c.425 others(40): Show c.4252-121_4252-98delAAAAAAAAAAAAAAAAAAAAAAAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	30/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3159874	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01943.hp2 HG02080.hp1 others(3): Show HG01192.hp2 HG01943.hp2 HG02080.hp1 HG02717.hp1 NA18961.hp2 NA19004.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0005 a0001c0033 a0002c0141 others(3): Show a0001c0005 a0001c0033 a0002c0141 a0002c0186 a0003c0032 a0005c0008	a0001c0005t0005 a0001c0033t0003 a0002c0141t0001 others(3): Show a0001c0005t0005 a0001c0033t0003 a0002c0141t0001 a0002c0186t0001 a0003c0032t0003 a0005c0008t0011	a0001c0005t0005g0329 a0001c0033t0003g0202 a0002c0141t0001g0160 others(3): Show a0001c0005t0005g0329 a0001c0033t0003g0202 a0002c0141t0001g0160 a0002c0186t0001g0011 a0003c0032t0003g0231 a0005c0008t0011g0271	6	330	0.0182	-24	c.150 others(43): Show c.1501+4380_1501+4403delGGAAGGAAGGAAGGAAGGAAGGAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	10/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2041509	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0025 a0001c0024t0002g0025	1	403	0.0025	-24	c.-36 others(35): Show c.-3671_-3648delAAATATATATATATATATATATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding		3536		chr8	TogoVar
MYOM2_chr8_2040046_2150456	2055087	GAAGTACC others(17): Show GAAGTACCTGGATACTGGGGTAACC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0013 a0013	a0013c0074 a0013c0074	a0013c0074t0001 a0013c0074t0001	a0013c0074t0001g0335 a0013c0074t0001g0335	1	403	0.0025	-24	c.264 others(41): Show c.264-2217_264-2194delTAACCAAGTACCTGGATACTGGGG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067325	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0019 a0019	a0019c0035 a0019c0035	a0019c0035t0002 a0019c0035t0002	a0019c0035t0002g0134 a0019c0035t0002g0134	1	364	0.0028	-24	c.335 others(41): Show c.3356-261_3356-238delAGAAAGAAAGAAAGAAAGAAAGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOM3_chr1_24051041_24117135	24067387	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 NA18906.hp2 others(1): Show HG02451.hp1 HG02970.hp1 NA18906.hp2 NA19060.hp1	a0001 a0017 a0001 a0017	a0001c0002 a0017c0021 a0001c0002 a0017c0021	a0001c0002t0001 a0017c0021t0007 a0001c0002t0001 a0017c0021t0007	a0001c0002t0001g0072 a0017c0021t0007g0002 a0017c0021t0007g0026 a0001c0002t0001g0072 a0017c0021t0007g0002 a0017c0021t0007g0026	4	364	0.0110	-24	c.335 others(41): Show c.3356-323_3356-300delGGAAGGAAGGAAGGAAGGAAGGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOM3_chr1_24051041_24117135	24113258	CTTTTTCT others(17): Show CTTTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18942.hp2 NA18953.hp1 others(2): Show HG00423.hp2 NA18942.hp2 NA18953.hp1 NA19005.hp1 NA19089.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0017 a0005c0023 a0001c0002 a0005c0017 a0005c0023	a0001c0002t0001 a0005c0017t0001 a0005c0023t0004 a0001c0002t0001 a0005c0017t0001 a0005c0023t0004	a0001c0002t0001g0145 a0005c0017t0001g0109 a0005c0023t0004g0101 others(2): Show a0001c0002t0001g0145 a0005c0017t0001g0109 a0005c0023t0004g0101 a0005c0023t0004g0120 a0005c0023t0004g0121	5	364	0.0137	-24	c.-12 others(35): Show c.-1270_-1247delAAGAAAGAAAGAAAGAAAGAAAAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding		1124		chr1	TogoVar
MYOZ1_chr10_73626612_73646474	73646178	GCACACAC others(17): Show GCACACACACACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	386	0.0026	-24	c.-48 others(35): Show c.-4810_-4787delTGTGTGTGTGTGTGTGTGTGTGTG	MYOZ1	ENSG00000177791.12	transcript	ENST00000359322.5	protein_coding		4705		chr10	TogoVar
MYPN_chr10_68104488_68217017	68182215	TATATATA others(17): Show TATATATAACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02148.hp1 HG02647.hp2 others(7): Show HG01891.hp1 HG02148.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp2 HG06807.hp1 NA18966.hp2 NA19078.hp2 NA20300.hp2	a0001 a0005 a0010 others(2): Show a0001 a0005 a0010 a0014 a0027	a0001c0001 a0005c0009 a0005c0010 others(3): Show a0001c0001 a0005c0009 a0005c0010 a0010c0060 a0014c0017 a0027c0035	a0001c0001t0001 a0005c0009t0004 a0005c0010t0004 others(3): Show a0001c0001t0001 a0005c0009t0004 a0005c0010t0004 a0010c0060t0004 a0014c0017t0004 a0027c0035t0010	a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0178 others(7): Show a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0178 a0005c0009t0004g0102 a0005c0009t0004g0279 a0005c0009t0004g0281 a0005c0010t0004g0215 a0010c0060t0004g0283 a0014c0017t0004g0198 a0027c0035t0010g0170	10	306	0.0327	-24	c.270 others(43): Show c.2704-6682_2704-6659delACACATATATATATAACATATATA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYRFL_chr12_69820227_69964097	69864646	CACACACA others(17): Show CACACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG02015.hp2 others(18): Show HG00733.hp1 HG01070.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02145.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18985.hp1 NA18994.hp2 NA19062.hp1 NA19089.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0014	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0027 a0003c0004 a0008c0013 a0014c0020	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0027t0002 a0003c0004t0003 a0008c0013t0004 a0014c0020t0001	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(18): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0181 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0002g0162 a0002c0002t0002g0166 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0027t0002g0183 a0003c0004t0003g0158 a0003c0004t0003g0159 a0008c0013t0004g0171 a0008c0013t0004g0175 a0014c0020t0001g0182	21	322	0.0652	-24	c.137 others(41): Show c.137+9296_137+9319delCACAAACACACACACACACACACA	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40203983	AATATATA others(17): Show AATATATATTATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	170	0.0059	-24	c.166 others(43): Show c.1666-5870_1666-5847delATATATATTATATATATTATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40212103	TGTATATA others(17): Show TGTATATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp1 HG02809.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0009 a0001c0001t0017	a0001c0001t0009g0136 a0001c0001t0017g0097 a0001c0001t0009g0136 a0001c0001t0017g0097	2	170	0.0118	-24	c.190 others(43): Show c.1905+2013_1905+2036delATATATATATACATATATATACGT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40212106	ATATATAT others(17): Show ATATATATATACATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0019	a0002c0008t0019g0098 a0002c0008t0019g0098	1	170	0.0059	-24	c.190 others(43): Show c.1905+2024_1905+2047delCATATATATACGTGTATATATATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	1829560	CTGACCCT others(17): Show CTGACCCTCCCATGCACCTGTGAAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG03098.hp2 others(1): Show HG02257.hp1 HG02922.hp2 HG03098.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0001c0016 a0002c0011 a0001c0013 a0001c0016 a0002c0011	a0001c0013t0001 a0001c0016t0002 a0002c0011t0001 a0001c0013t0001 a0001c0016t0002 a0002c0011t0001	a0001c0013t0001g0038 a0001c0016t0002g0016 a0002c0011t0001g0043 others(1): Show a0001c0013t0001g0038 a0001c0016t0002g0016 a0002c0011t0001g0043 a0002c0011t0001g0078	4	104	0.0385	-24	c.308 others(43): Show c.3080+9565_3080+9588delATTCACAGGTGCATGGGAGGGTCA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1843488	TAGGGAGA others(17): Show TAGGGAGAATTACGATATCCTACCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02717.hp2 others(4): Show HG02257.hp1 HG02257.hp2 HG02717.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0001c0016 a0001c0017 others(2): Show a0001c0013 a0001c0016 a0001c0017 a0001c0025 a0002c0011	a0001c0013t0001 a0001c0013t0019 a0001c0016t0002 others(3): Show a0001c0013t0001 a0001c0013t0019 a0001c0016t0002 a0001c0017t0005 a0001c0025t0005 a0002c0011t0001	a0001c0013t0001g0038 a0001c0013t0019g0065 a0001c0016t0002g0016 others(4): Show a0001c0013t0001g0038 a0001c0013t0019g0065 a0001c0016t0002g0016 a0001c0017t0005g0097 a0001c0025t0005g0019 a0002c0011t0001g0043 a0002c0011t0001g0078	7	104	0.0673	-24	c.277 others(43): Show c.2775-2669_2775-2646delGGGTAGGATATCGTAATTCTCCCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	19/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1850182	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG02922.hp1 others(4): Show HG01109.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG04204.hp1 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0008 others(3): Show a0001c0004 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0015	a0001c0004t0005 a0001c0005t0011 a0001c0008t0005 others(3): Show a0001c0004t0005 a0001c0005t0011 a0001c0008t0005 a0001c0012t0014 a0001c0013t0001 a0001c0015t0001	a0001c0004t0005g0073 a0001c0005t0011g0074 a0001c0005t0011g0095 others(4): Show a0001c0004t0005g0073 a0001c0005t0011g0074 a0001c0005t0011g0095 a0001c0008t0005g0101 a0001c0012t0014g0004 a0001c0013t0001g0038 a0001c0015t0001g0015	7	104	0.0673	-24	c.277 others(43): Show c.2774+1435_2774+1458delAAGGAAGGAAGGAAGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	19/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64212154	TGGGCCGT others(17): Show TGGGCCGTAGTGGGGGCCAGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0131 a0002c0008t0017g0131	1	223	0.0045	-24	c.151 others(39): Show c.1517+24_1517+47delAGTGGGGGCCAGGGTGGGGGCCGT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64212162	AGTGGGGG others(17): Show AGTGGGGGCCAGGGTGGGGGCCGTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02630.hp2 HG02647.hp1 others(9): Show HG01081.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0003t0022	a0001c0001t0001g0219 a0001c0001t0003g0020 a0001c0001t0003g0073 others(9): Show a0001c0001t0001g0219 a0001c0001t0003g0020 a0001c0001t0003g0073 a0001c0001t0003g0102 a0001c0001t0003g0126 a0001c0001t0010g0009 a0001c0001t0010g0222 a0001c0001t0011g0074 a0001c0002t0002g0056 a0001c0002t0002g0077 a0001c0002t0002g0120 a0001c0003t0022g0053	12	223	0.0538	-24	c.151 others(41): Show c.1517+104_1517+127delCCAGGGTGGGGGCCGTGGTGGGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64234583	TGTGACCC others(17): Show TGTGACCCTGGGCTGGCCGTGGTGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01517.hp2 others(2): Show HG00280.hp2 HG00735.hp1 HG01517.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0210	5	223	0.0224	-24	c.289 others(43): Show c.2898-1907_2898-1884delCGTGGTGGGTGACCCTGGGCTGGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235780	ATGGCTGT others(17): Show ATGGCTGTGGTGGGTGACACTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01361.hp2 others(39): Show HG00597.hp1 HG00733.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02074.hp2 HG02129.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03669.hp2 HG06807.hp2 NA18906.hp2 NA18971.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0015 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0004t0004 a0001c0005t0003 a0001c0015t0002 a0002c0008t0017 a0002c0008t0020	a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0214 others(39): Show a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0214 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0030 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0156 a0001c0001t0003g0164 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0008g0016 a0001c0001t0008g0057 a0001c0001t0008g0127 a0001c0001t0008g0133 a0001c0001t0008g0147 a0001c0001t0013g0011 a0001c0001t0013g0157 a0001c0001t0014g0017 a0001c0001t0014g0092 a0001c0001t0024g0002 a0001c0004t0004g0013 a0001c0004t0004g0031 a0001c0004t0004g0034 a0001c0004t0004g0078 a0001c0004t0004g0139 a0001c0004t0004g0144 a0001c0004t0004g0150 a0001c0004t0004g0196 a0001c0004t0004g0213 a0001c0005t0003g0025 a0001c0005t0003g0050 a0001c0005t0003g0200 a0001c0015t0002g0096 a0002c0008t0017g0131 a0002c0008t0020g0111	42	223	0.1883	-24	c.289 others(41): Show c.2898-733_2898-710delACTGGGCTGGCTGTGGTGGGTGAC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235833	TGTGGTGG others(17): Show TGTGGTGGGTGACCCTGGGCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01168.hp1 others(19): Show HG00099.hp2 HG00642.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02258.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 NA18906.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0014 others(2): Show a0001c0001 a0001c0007 a0001c0014 a0002c0011 a0003c0010	a0001c0001t0003 a0001c0001t0009 a0001c0007t0002 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0007t0002 a0001c0007t0009 a0001c0014t0003 a0002c0011t0003 a0003c0010t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0073 others(19): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0073 a0001c0001t0003g0090 a0001c0001t0003g0102 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0009g0065 a0001c0001t0009g0076 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0007t0002g0083 a0001c0007t0002g0128 a0001c0007t0009g0169 a0001c0014t0003g0045 a0002c0011t0003g0216 a0003c0010t0003g0098	22	223	0.0987	-24	c.289 others(41): Show c.2898-709_2898-686delCCTGGGCTGGCCGTGGTGGGTGAC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235870	GCTGGGAT others(17): Show GCTGGGATGGTCATGGTGGGTGACC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0024 a0001c0006t0015g0110 a0001c0006t0015g0024 a0001c0006t0015g0110	2	223	0.0090	-24	c.289 others(41): Show c.2898-675_2898-652delTCATGGTGGGTGACCCTGGGATGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235900	ATGGCCGC others(17): Show ATGGCCGCGGTGGGTGACCCTGGGC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0025 a0001c0005t0003g0025	1	223	0.0045	-24	c.289 others(41): Show c.2898-627_2898-604delCCGCGGTGGGTGACCCTGGGCTGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235972	ATGGCCGC others(17): Show ATGGCCGCGGTGGGTGACCCTGGGC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0026 a0001c0005t0023g0026	1	223	0.0045	-24	c.289 others(41): Show c.2898-535_2898-512delCTGGCCGCGGTGGGTGACCCTGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57673463	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	352	0.0028	-24	c.120 others(43): Show c.1204-1473_1204-1450delTGTGTGTGTGTGTGTGTGTGTGTG	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57676412	ATATATAT others(17): Show ATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp2 HG02109.hp1 others(17): Show HG00673.hp1 HG02080.hp2 HG02109.hp1 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 NA18939.hp1 NA18948.hp1 NA18980.hp2 NA19004.hp2 NA19005.hp1 NA19030.hp2 NA19056.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19088.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0004c0006 a0007c0011	a0001c0001t0001 a0001c0001t0007 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0002 a0002c0002t0002 a0002c0002t0011 a0002c0004t0001 a0004c0006t0002 a0007c0011t0002	a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0224 others(17): Show a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0274 a0001c0001t0007g0244 a0001c0001t0007g0326 a0001c0001t0007g0328 a0001c0001t0007g0333 a0001c0003t0002g0127 a0002c0002t0002g0045 a0002c0002t0002g0075 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0011g0073 a0002c0004t0001g0206 a0004c0006t0002g0121 a0007c0011t0002g0118	20	352	0.0568	-24	c.130 others(43): Show c.1304+1352_1304+1375delGTGTATATATATATATGTATATAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MZT1_chr13_72703367_72732629	72724717	TACATATA others(17): Show TACATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02572.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG02572.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0180 a0001c0001t0006g0014 a0001c0001t0001g0180 a0001c0001t0006g0014	4	384	0.0104	-24	c.79+ others(39): Show c.79+2783_79+2806delGTATATATATATATATATATATGT	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
N4BP1_chr16_48533726_48615180	48610860	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	324	0.0031	-24	c.-91 others(33): Show c.-912_-889delTTTTTTTTTTTTTTTTTTTTTTTT	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding		681		chr16	TogoVar
NAA15_chr4_139296505_139396384	139385276	TATATATA others(17): Show TATATATAATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00597.hp2 others(30): Show HG00099.hp2 HG00323.hp1 HG00597.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01361.hp1 HG01516.hp1 HG02004.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp2 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18953.hp1 NA18970.hp1 NA18988.hp1 NA18994.hp2 NA19056.hp2 NA19072.hp2 NA19077.hp1 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023	a0001c0001t0001g0062 a0001c0001t0002g0006 a0001c0001t0002g0007 others(30): Show a0001c0001t0001g0062 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0308 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0023g0013	33	334	0.0988	-24	c.230 others(41): Show c.2302+306_2302+329delATATATATATATATATAATATATA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA25_chr12_112021689_112113783	112059075	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp2 others(1): Show HG01168.hp1 HG02055.hp2 HG02280.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0001 a0003c0003t0004	a0001c0001t0001g0184 a0003c0003t0001g0206 a0003c0003t0001g0209 others(1): Show a0001c0001t0001g0184 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0004g0204	4	342	0.0117	-24	c.144 others(43): Show c.1447+1171_1447+1194delTTTTTTTTTTTTTTTTTTTTTTTT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	13/23			chr12	TogoVar
NAAA_chr4_75908660_75946013	75942304	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(62): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp2 HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp2 NA18522.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18966.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0002c0002 a0008c0009 others(1): Show a0001c0001 a0002c0002 a0008c0009 a0011c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 a0008c0009t0001 a0011c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0005g0056 a0001c0001t0009g0077 a0001c0001t0010g0316 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0027 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0070 a0002c0002t0001g0177 a0002c0002t0001g0178 a0008c0009t0001g0039 a0008c0009t0001g0315 a0011c0015t0001g0081	65	400	0.1625	-24	c.-13 others(35): Show c.-1379_-1356delTTTTTTTTTTTTTTTTTTTTTTTT	NAAA	ENSG00000138744.16	transcript	ENST00000286733.9	protein_coding		1292		chr4	TogoVar
NAALAD2_chr11_90129663_90197894	90167850	GCAATCGG others(17): Show GCAATCGGCTCTCTGTAAAACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp1 HG03579.hp2 others(1): Show HG02109.hp1 HG03195.hp1 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0004 a0001c0006t0005 a0001c0002t0001 a0001c0002t0004 a0001c0006t0005	a0001c0002t0001g0267 a0001c0002t0004g0268 a0001c0002t0004g0272 others(1): Show a0001c0002t0001g0267 a0001c0002t0004g0268 a0001c0002t0004g0272 a0001c0006t0005g0338	4	364	0.0110	-24	c.127 others(43): Show c.1279-1059_1279-1036delCAGACCAATCGGCTCTCTGTAAAA	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALAD2_chr11_90129663_90197894	90177586	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18973.hp2 NA18998.hp2 HG02083.hp2 NA18973.hp2 NA18998.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0250 a0003c0004t0005g0251 a0003c0004t0005g0258 a0003c0004t0005g0250 a0003c0004t0005g0251 a0003c0004t0005g0258	3	364	0.0082	-24	c.159 others(41): Show c.1594-252_1594-229delTTTTTTTTTTTTTTTTTTTTTTTT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174885876	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 NA18906.hp1 HG00741.hp1 HG01074.hp1 NA18906.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0002 a0006c0009 a0001c0001 a0004c0002 a0006c0009	a0001c0001t0002 a0004c0002t0026 a0006c0009t0010 a0001c0001t0002 a0004c0002t0026 a0006c0009t0010	a0001c0001t0002g0012 a0004c0002t0026g0011 a0006c0009t0010g0010 a0001c0001t0002g0012 a0004c0002t0026g0011 a0006c0009t0010g0010	3	64	0.0469	-24	c.43+ others(41): Show c.43+26459_43+26482delTTTTTTTTTTTTTTTTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175272810	GGGTTATT others(17): Show GGGTTATTTATCTGACTTAAGGTAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0019 a0002c0005t0011g0019	1	64	0.0156	-24	c.939 others(43): Show c.939+16283_939+16306delTTATTTATCTGACTTAAGGTAAGG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175314666	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp2 NA18522.hp1 HG02615.hp2 HG03579.hp2 NA18522.hp1	a0004 a0011 a0004 a0011	a0004c0002 a0004c0008 a0011c0021 a0004c0002 a0004c0008 a0011c0021	a0004c0002t0006 a0004c0008t0027 a0011c0021t0003 a0004c0002t0006 a0004c0008t0027 a0011c0021t0003	a0004c0002t0006g0039 a0004c0008t0027g0051 a0011c0021t0003g0042 a0004c0002t0006g0039 a0004c0008t0027g0051 a0011c0021t0003g0042	3	64	0.0469	-24	c.940 others(41): Show c.940-9476_940-9453delTATATATATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175504565	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 NA19043.hp2 HG02809.hp1 NA18906.hp1 NA19043.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0002 a0005c0006 a0001c0001 a0004c0002 a0005c0006	a0001c0001t0022 a0004c0002t0026 a0005c0006t0001 a0001c0001t0022 a0004c0002t0026 a0005c0006t0001	a0001c0001t0022g0002 a0004c0002t0026g0011 a0005c0006t0001g0057 a0001c0001t0022g0002 a0004c0002t0026g0011 a0005c0006t0001g0057	3	64	0.0469	-24	c.165 others(45): Show c.1653+32840_1653+32863delTCTCTCTCTCTCTCTCTCTCTCTC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175591784	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA21309.hp2 HG02895.hp1 NA21309.hp2	a0005 a0008 a0005 a0008	a0005c0006 a0008c0019 a0005c0006 a0008c0019	a0005c0006t0015 a0008c0019t0017 a0005c0006t0015 a0008c0019t0017	a0005c0006t0015g0008 a0008c0019t0017g0004 a0005c0006t0015g0008 a0008c0019t0017g0004	2	64	0.0313	-24	c.180 others(45): Show c.1800+15617_1800+15640delATATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175667246	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0021 a0001c0013t0007g0021	1	64	0.0156	-24	c.189 others(45): Show c.1896+39864_1896+39887delAAAGAAAGAAAGAAAGGAAGGAAG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697813	GTATGTAT others(17): Show GTATGTATACATATATATGTGTATT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02258.hp2 HG01167.hp1 HG01169.hp2 HG02258.hp2	a0004 a0008 a0004 a0008	a0004c0002 a0008c0018 a0004c0002 a0008c0018	a0004c0002t0008 a0004c0002t0034 a0008c0018t0001 a0004c0002t0008 a0004c0002t0034 a0008c0018t0001	a0004c0002t0008g0006 a0004c0002t0034g0055 a0008c0018t0001g0043 a0004c0002t0008g0006 a0004c0002t0034g0055 a0008c0018t0001g0043	3	64	0.0469	-24	c.189 others(45): Show c.1897-39469_1897-39446delTTATGTATACATATATATGTGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175730395	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp2 HG02258.hp1 HG03579.hp2	a0004 a0012 a0004 a0012	a0004c0008 a0012c0017 a0004c0008 a0012c0017	a0004c0008t0027 a0012c0017t0007 a0004c0008t0027 a0012c0017t0007	a0004c0008t0027g0051 a0012c0017t0007g0025 a0004c0008t0027g0051 a0012c0017t0007g0025	2	64	0.0313	-24	c.189 others(43): Show c.1897-6885_1897-6862delTATATATATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175730421	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0028 a0010c0020t0028	a0010c0020t0028g0001 a0010c0020t0028g0001	1	64	0.0156	-24	c.189 others(43): Show c.1897-6883_1897-6860delTATATATATATATATATATATACA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175811454	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02922.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0002 a0005c0006 a0001c0001 a0004c0002 a0005c0006	a0001c0001t0022 a0004c0002t0021 a0005c0006t0020 a0001c0001t0022 a0004c0002t0021 a0005c0006t0020	a0001c0001t0022g0002 a0004c0002t0021g0003 a0005c0006t0020g0052 a0001c0001t0022g0002 a0004c0002t0021g0003 a0005c0006t0020g0052	3	64	0.0469	-24	c.82 others(35): Show c.8252_*8275delATATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding		907		chr3	TogoVar
NACAD_chr7_45075437_45093969	45079060	AGAGTAAT others(17): Show AGAGTAATGAGGGCACATCAGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01106.hp2 others(37): Show HG00639.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp2	a0003 a0013 a0015 others(6): Show a0003 a0013 a0015 a0031 a0034 a0035 a0038 a0044 a0063	a0003c0004 a0003c0026 a0003c0036 others(12): Show a0003c0004 a0003c0026 a0003c0036 a0003c0037 a0003c0038 a0003c0083 a0003c0087 a0013c0014 a0015c0015 a0031c0042 a0034c0035 a0035c0034 a0038c0040 a0044c0041 a0063c0033	a0003c0004t0001 a0003c0026t0001 a0003c0036t0001 others(12): Show a0003c0004t0001 a0003c0026t0001 a0003c0036t0001 a0003c0037t0001 a0003c0038t0001 a0003c0083t0001 a0003c0087t0001 a0013c0014t0001 a0015c0015t0001 a0031c0042t0001 a0034c0035t0001 a0035c0034t0001 a0038c0040t0001 a0044c0041t0001 a0063c0033t0001	a0003c0004t0001g0004 a0003c0004t0001g0030 a0003c0026t0001g0095 others(13): Show a0003c0004t0001g0004 a0003c0004t0001g0030 a0003c0026t0001g0095 a0003c0036t0001g0099 a0003c0037t0001g0100 a0003c0038t0001g0101 a0003c0083t0001g0089 a0003c0087t0001g0105 a0013c0014t0001g0076 a0015c0015t0001g0015 a0031c0042t0001g0104 a0034c0035t0001g0098 a0035c0034t0001g0097 a0038c0040t0001g0102 a0044c0041t0001g0103 a0063c0033t0001g0096	40	410	0.0976	-24	c.14 others(35): Show c.1425_*1448delCCTTCTGATGTGCCCTCATTACTC	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding		1376		chr7	TogoVar
NADK2_chr5_36187589_36246925	36227436	GAATATAA others(17): Show GAATATAAAATCCAACCCAAGACCC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	384	0.0026	-24	c.389 others(37): Show c.389+17_389+40delGGGTCTTGGGTTGGATTTTATATT	NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	2/11			chr5	TogoVar
NADK_chr1_1746232_1783470	1760681	TGAAGAGA others(17): Show TGAAGAGAGCCCGTTCTGCACAGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0007	a0005c0009t0007g0165 a0005c0009t0007g0165	1	414	0.0024	-24	c.263 others(41): Show c.263+1247_263+1270delCTCTGTGCAGAACGGGCTCTCTTC	NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	3/11			chr1	TogoVar
NAGK_chr2_71063648_71084808	71081011	ATTATTTT others(17): Show ATTATTTTATTTTATTTTATTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03579.hp2 HG01109.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0082 a0001c0002t0001g0084	2	442	0.0045	-24	c.25 others(35): Show c.2504_*2527delTTATTTTATTTTATTTTATTTTAT	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1204		chr2	TogoVar

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