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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MYO5B_chr18_49817789_50200147	50122637	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0197 a0002c0003t0002g0197	1	238	0.0042	-27	c.28- others(44): Show c.28-67286_28-67260delTCTCTCTCTCTCTCTCTCTCTCTCTCT		MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39						chr18	TogoVar
MYO5C_chr15_52187322_52300804	52285410	TCCTCTCC others(20): Show TCCTCTCCCTCCTCTCCCTCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00741.hp2 others(39): Show HG00408.hp1 HG00438.hp1 HG00741.hp2 HG01243.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02717.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18963.hp2 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19086.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0008 a0011 a0012 a0015 a0017	a0001c0001 a0001c0004 a0001c0027 others(7): Show a0001c0001 a0001c0004 a0001c0027 a0002c0002 a0006c0009 a0008c0010 a0011c0018 a0012c0016 a0015c0021 a0017c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0042 a0001c0004t0001 a0001c0004t0002 a0001c0004t0032 a0001c0004t0045 a0001c0027t0004 a0002c0002t0002 a0002c0002t0006 a0002c0002t0035 a0006c0009t0002 a0008c0010t0004 a0011c0018t0014 a0012c0016t0004 a0015c0021t0034 a0017c0024t0043	a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0002g0160 others(37): Show a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0002g0160 a0001c0001t0004g0001 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0162 a0001c0001t0004g0219 a0001c0001t0009g0146 a0001c0001t0009g0148 a0001c0001t0042g0350 a0001c0004t0001g0147 a0001c0004t0001g0347 a0001c0004t0002g0103 a0001c0004t0032g0155 a0001c0004t0045g0151 a0001c0027t0004g0145 a0002c0002t0002g0144 a0002c0002t0006g0149 a0002c0002t0006g0150 a0002c0002t0006g0153 a0002c0002t0006g0161 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0006g0165 a0002c0002t0006g0167 a0002c0002t0035g0105 a0006c0009t0002g0097 a0006c0009t0002g0101 a0006c0009t0002g0349 a0006c0009t0002g0351 a0006c0009t0002g0352 a0008c0010t0004g0152 a0011c0018t0014g0169 a0012c0016t0004g0004 a0015c0021t0034g0104 a0017c0024t0043g0220	42	360	0.1167	-27	c.28- others(42): Show c.28-2545_28-2519delGAGAGGGAGAGGGAGAGGAGGGAGAGG		MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40						chr15	TogoVar
MYOCD_chr17_12660890_12773949	12676246	CACACACA others(20): Show CACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0157 a0001c0001t0157	a0001c0001t0157g0028 a0001c0001t0157g0028	1	346	0.0029	-27	c.55+ others(44): Show c.55+10004_55+10030delACACACACACACACACACACACACACA		MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13						chr17	TogoVar
MYOF_chr10_93301429_93487334	93303545	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01123.hp1 others(27): Show HG00639.hp1 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG02015.hp2 HG02055.hp2 HG02132.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03239.hp1 HG03704.hp2 HG06807.hp1 NA18984.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0020 a0025 a0027	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0015 a0001c0051 a0005c0030 a0007c0026 a0020c0039 a0025c0045 a0027c0060	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0012t0001 a0001c0015t0001 a0001c0051t0001 a0005c0030t0002 a0007c0026t0001 a0020c0039t0001 a0025c0045t0001 a0027c0060t0001	a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0070 others(27): Show a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0219 a0001c0002t0001g0037 a0001c0002t0001g0104 a0001c0005t0001g0100 a0001c0012t0001g0149 a0001c0015t0001g0109 a0001c0051t0001g0059 a0005c0030t0002g0170 a0007c0026t0001g0122 a0020c0039t0001g0069 a0025c0045t0001g0046 a0027c0060t0001g0081	30	240	0.1250	-27	c.33 others(38): Show c.3391_*3417delAAAAAAAAAAAAAAAAAAAAAAAAAAA		MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding					2883		chr10	TogoVar
MYOM2_chr8_2040046_2150456	2085509	CGCGTGGC others(20): Show CGCGTGGCCCCCCACTGTTGTGATCTCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02922.hp2 HG03139.hp2 others(2): Show HG02132.hp2 HG02922.hp2 HG03139.hp2 HG03516.hp2 NA20300.hp2	a0005 a0020 a0076 a0005 a0020 a0076	a0005c0090 a0020c0027 a0076c0106 a0005c0090 a0020c0027 a0076c0106	a0005c0090t0002 a0020c0027t0001 a0076c0106t0001 a0005c0090t0002 a0020c0027t0001 a0076c0106t0001	a0005c0090t0002g0339 a0020c0027t0001g0088 a0020c0027t0001g0090 others(2): Show a0005c0090t0002g0339 a0020c0027t0001g0088 a0020c0027t0001g0090 a0020c0027t0001g0091 a0076c0106t0001g0065	5	403	0.0124	-27	c.164 others(44): Show c.1644+130_1644+156delCCACTGTTGTGATCTCTGCGTGGCCCC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085612	GCGTGGCC others(20): Show GCGTGGCCCCCCACAGTCGTGATCTCTT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0013 a0013	a0013c0074 a0013c0074	a0013c0074t0001 a0013c0074t0001	a0013c0074t0001g0335 a0013c0074t0001g0335	1	403	0.0025	-27	c.164 others(44): Show c.1644+223_1644+249delCGTGGCCCCCCACAGTCGTGATCTCTT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085671	GCCCCACT others(20): Show GCCCCACTGTCGTGATCTCTGCGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0005 a0005	a0005c0109 a0005c0109	a0005c0109t0002 a0005c0109t0002	a0005c0109t0002g0115 a0005c0109t0002g0115	1	403	0.0025	-27	c.164 others(44): Show c.1644+301_1644+327delGCGTGGCCCCCCACTGTCGTGATCTCT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085692	CGTGGCCC others(20): Show CGTGGCCCCCCACTGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0177 a0011c0177	a0011c0177t0001 a0011c0177t0001	a0011c0177t0001g0058 a0011c0177t0001g0058	1	403	0.0025	-27	c.164 others(44): Show c.1644+318_1644+344delCGTGATCTCTTTGTGGCCCCCCACTGT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085756	CACAGTCG others(20): Show CACAGTCGTGATCTCTTTGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03130.hp2 HG00733.hp1 HG03130.hp2	a0038 a0062 a0038 a0062	a0038c0131 a0062c0154 a0038c0131 a0062c0154	a0038c0131t0001 a0062c0154t0001 a0038c0131t0001 a0062c0154t0001	a0038c0131t0001g0045 a0062c0154t0001g0106 a0038c0131t0001g0045 a0062c0154t0001g0106	2	403	0.0050	-27	c.164 others(44): Show c.1644+369_1644+395delAGTCGTGATCTCTTTGTGGCCCCCTAC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085773	TGTGGCCC others(20): Show TGTGGCCCCCTACTGTCGTGATCTCTGC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0014 a0014	a0014c0114 a0014c0114	a0014c0114t0001 a0014c0114t0001	a0014c0114t0001g0381 a0014c0114t0001g0381	1	403	0.0025	-27	c.164 others(44): Show c.1644+393_1644+419delTACTGTCGTGATCTCTGCGTGGCCCCC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085879	CGTGGCCC others(20): Show CGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0071 a0002c0017t0001g0071	1	403	0.0025	-27	c.164 others(44): Show c.1644+502_1644+528delAGTCGTGATCTCTTTGTGGCCCCCCAC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085985	CGTGGCCC others(20): Show CGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0216 a0001c0002t0002g0001 a0001c0002t0001g0216 a0001c0002t0002g0001	3	403	0.0074	-27	c.164 others(44): Show c.1644+608_1644+634delAGTCGTGATCTCTTTGTGGCCCCCCAC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086039	CGTGGCCC others(20): Show CGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0324 a0001c0002t0001g0324	1	403	0.0025	-27	c.164 others(44): Show c.1644+659_1644+685delCACAGTCGTGATCTCTTTGTGGCCCCC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086049	CACAGTCG others(20): Show CACAGTCGTGATCTCTTTGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0044 a0002c0006t0001g0044	1	403	0.0025	-27	c.164 others(44): Show c.1644+662_1644+688delAGTCGTGATCTCTTTGTGGCCCCCTAC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086052	AGTCGTGA others(20): Show AGTCGTGATCTCTTTGTGGCCCCCTACT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02976.hp1 HG02132.hp1 HG02976.hp1	a0001 a0007 a0001 a0007	a0001c0022 a0007c0089 a0001c0022 a0007c0089	a0001c0022t0001 a0007c0089t0001 a0001c0022t0001 a0007c0089t0001	a0001c0022t0001g0073 a0007c0089t0001g0226 a0001c0022t0001g0073 a0007c0089t0001g0226	2	403	0.0050	-27	c.164 others(44): Show c.1644+675_1644+701delTTGTGGCCCCCTACTGTCGTGATCTCT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086203	GCCCCACT others(20): Show GCCCCACTGTCATGATCTCTTTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp1 HG01258.hp2 others(6): Show HG00741.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG02735.hp1 HG03704.hp2	a0001 a0005 a0039 others(1): Show a0001 a0005 a0039 a0078	a0001c0002 a0001c0003 a0005c0142 others(2): Show a0001c0002 a0001c0003 a0005c0142 a0039c0029 a0078c0115	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0005c0142t0001 a0039c0029t0001 a0078c0115t0001	a0001c0002t0001g0216 a0001c0002t0002g0001 a0001c0003t0001g0014 others(5): Show a0001c0002t0001g0216 a0001c0002t0002g0001 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0213 a0005c0142t0001g0255 a0039c0029t0001g0173 a0078c0115t0001g0203	9	403	0.0223	-27	c.164 others(44): Show c.1644+823_1644+849delCATGATCTCTTTGTGGCCCCCCACTGT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086297	CGCGTGGC others(20): Show CGCGTGGCCCCCCACAGTCGTGATCTCT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0212 a0002c0033t0001g0212	1	403	0.0025	-27	c.164 others(44): Show c.1644+922_1644+948delAGTCGTGATCTCTGCGTGGCCCCCCAC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086315	CGTGATCT others(20): Show CGTGATCTCTGCGTGGCCCCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02965.hp1 HG03195.hp2 others(2): Show HG01496.hp1 HG02965.hp1 HG03195.hp2 NA18953.hp2 NA19009.hp1	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0012 a0023	a0001c0022 a0010c0199 a0011c0184 others(2): Show a0001c0022 a0010c0199 a0011c0184 a0012c0011 a0023c0021	a0001c0022t0001 a0010c0199t0001 a0011c0184t0001 others(2): Show a0001c0022t0001 a0010c0199t0001 a0011c0184t0001 a0012c0011t0001 a0023c0021t0001	a0001c0022t0001g0396 a0010c0199t0001g0094 a0011c0184t0001g0055 others(2): Show a0001c0022t0001g0396 a0010c0199t0001g0094 a0011c0184t0001g0055 a0012c0011t0001g0248 a0023c0021t0001g0355	5	403	0.0124	-27	c.164 others(44): Show c.1644+943_1644+969delCCCCACTGTTGTGATCTCTGCGTGGCC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086333	CCCCACTG others(20): Show CCCCACTGTTGTGATCTCTGCGTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03710.hp1 HG02004.hp1 HG03710.hp1	a0004 a0019 a0004 a0019	a0004c0159 a0019c0211 a0004c0159 a0019c0211	a0004c0159t0001 a0019c0211t0002 a0004c0159t0001 a0019c0211t0002	a0004c0159t0001g0041 a0019c0211t0002g0087 a0004c0159t0001g0041 a0019c0211t0002g0087	2	403	0.0050	-27	c.164 others(46): Show c.1644+1024_1644+1050delTCCCACTGTTGTGATCTCTGCGTGGC C		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086417	CACTGTTG others(20): Show CACTGTTGTGATCTCTGCGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20905.hp1 HG02735.hp1 NA20905.hp1	a0039 a0039	a0039c0029 a0039c0029	a0039c0029t0001 a0039c0029t0001	a0039c0029t0001g0173 a0039c0029t0001g0174 a0039c0029t0001g0173 a0039c0029t0001g0174	2	403	0.0050	-27	c.164 others(46): Show c.1644+1033_1644+1059delTGTGATCTCTGCGTGGCCCCCTACTG T		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086433	GCGTGGCC others(20): Show GCGTGGCCCCCTACTGTCGTGATCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0289 a0004c0007t0001g0289	1	403	0.0025	-27	c.164 others(46): Show c.1644+1051_1644+1077delCCCTACTGTCGTGATCTCCACGTGGC C		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086443	CTACTGTC others(20): Show CTACTGTCGTGATCTCCACGTGGCCACA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG02083.hp1 others(4): Show HG00597.hp2 HG01123.hp1 HG02083.hp1 NA18960.hp1 NA18994.hp2 NA18998.hp2 NA19080.hp1	a0002 a0010 a0017 others(2): Show a0002 a0010 a0017 a0018 a0089	a0002c0102 a0010c0056 a0017c0026 others(2): Show a0002c0102 a0010c0056 a0017c0026 a0018c0018 a0089c0171	a0002c0102t0002 a0010c0056t0001 a0017c0026t0001 others(2): Show a0002c0102t0002 a0010c0056t0001 a0017c0026t0001 a0018c0018t0003 a0089c0171t0002	a0002c0102t0002g0232 a0010c0056t0001g0089 a0017c0026t0001g0218 others(4): Show a0002c0102t0002g0232 a0010c0056t0001g0089 a0017c0026t0001g0218 a0017c0026t0001g0375 a0018c0018t0003g0227 a0018c0018t0003g0256 a0089c0171t0002g0257	7	403	0.0174	-27	c.164 others(46): Show c.1644+1054_1644+1080delTACTGTCGTGATCTCCACGTGGCCAC A		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086470	ACACTGTC others(20): Show ACACTGTCATGATCTCTGTGTGGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03654.hp2 NA21309.hp2 HG02055.hp1 HG03654.hp2 NA21309.hp2	a0005 a0011 a0063 a0005 a0011 a0063	a0005c0101 a0011c0182 a0063c0155 a0005c0101 a0011c0182 a0063c0155	a0005c0101t0007 a0011c0182t0002 a0063c0155t0001 a0005c0101t0007 a0011c0182t0002 a0063c0155t0001	a0005c0101t0007g0079 a0011c0182t0002g0069 a0063c0155t0001g0268 a0005c0101t0007g0079 a0011c0182t0002g0069 a0063c0155t0001g0268	3	403	0.0074	-27	c.164 others(46): Show c.1644+1088_1644+1114delATGATCTCTGTGTGGCCCCCCACTGT C		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086488	TGTGGCCC others(20): Show TGTGGCCCCCCACTGTCGTGATCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0084 a0084	a0084c0130 a0084c0130	a0084c0130t0001 a0084c0130t0001	a0084c0130t0001g0358 a0084c0130t0001g0358	1	403	0.0025	-27	c.164 others(46): Show c.1644+1107_1644+1133delCCACTGTCGTGATCTCTGCGTGGCCC C		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100098	TTCCTTCC others(20): Show TTCCTTCCTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20129.hp2 NA21309.hp1 HG03540.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0023 a0002c0147 a0001c0023 a0002c0147	a0001c0023t0001 a0002c0147t0002 a0001c0023t0001 a0002c0147t0002	a0001c0023t0001g0385 a0001c0023t0001g0391 a0002c0147t0002g0392 a0001c0023t0001g0385 a0001c0023t0001g0391 a0002c0147t0002g0392	3	403	0.0074	-27	c.244 others(44): Show c.2441-776_2441-750delCCTTCCTTCTTTCTTTCCTTCCTTCCT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRIP_chr3_39804609_40265321	40203957	TTATATAC others(20): Show TTATATACATTATATATATTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02040.hp1 HG02451.hp1 others(15): Show HG01192.hp2 HG02040.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02698.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 NA18983.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0004 a0002c0011 others(2): Show a0001c0001 a0001c0004 a0002c0011 a0004c0009 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0002c0011t0001 a0002c0011t0003 a0004c0009t0005 a0006c0016t0008	a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0001g0143 others(15): Show a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0003g0004 a0001c0001t0003g0047 a0001c0004t0003g0023 a0001c0004t0003g0106 a0001c0004t0003g0165 a0002c0011t0001g0159 a0002c0011t0001g0160 a0002c0011t0003g0034 a0004c0009t0005g0101 a0004c0009t0005g0112 a0004c0009t0005g0113 a0004c0009t0005g0114 a0004c0009t0005g0116 a0006c0016t0008g0028 a0006c0016t0008g0139	18	170	0.1059	-27	c.166 others(46): Show c.1666-5890_1666-5864delCATTATATATATTATATATAATATAT A		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	2236757	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0035 a0001c0004t0007g0035	1	104	0.0096	-27	c.-42 others(48): Show c.-421+47620_-421+47646delGAAGAAGAAGAAGAAGAAGAAGAA GAA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYZAP_chr15_57586904_57690364	57687947	AATATGTG others(20): Show AATATGTGTGTACAATATACACATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	352	0.0028	-27	c.34 others(38): Show c.3450_*3476delATATGTGTGTACAATATACACATATAT		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2584		chr15	TogoVar
N4BP1_chr16_48533726_48615180	48610860	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	324	0.0031	-27	c.-91 others(36): Show c.-915_-889delTTTTTTTTTTTTTTTTTTTTTTTTTTT		N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding					681		chr16	TogoVar
NAA25_chr12_112021689_112113783	112059075	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02257.hp2 HG02717.hp1 others(4): Show HG01943.hp1 HG02257.hp2 HG02717.hp1 HG02809.hp1 HG02965.hp2 HG03130.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0004c0005t0021	a0001c0001t0005g0111 a0001c0001t0006g0106 a0001c0001t0006g0107 others(4): Show a0001c0001t0005g0111 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0015g0108 a0004c0005t0021g0105	7	342	0.0205	-27	c.144 others(46): Show c.1447+1168_1447+1194delTTTTTTTTTTTTTTTTTTTTTTTTTT T		NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	13/23						chr12	TogoVar
NAA30_chr14_57385586_57420906	57415347	GTATGTCT others(20): Show GTATGTCTCCTATGTTTTCCTTTCATGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0002 a0001c0005t0035g0002	1	256	0.0039	-27	c.58 others(38): Show c.5832_*5858delTATGTCTCCTATGTTTTCCTTTCATGC		NAA30	ENSG00000139977.14	transcript	ENST00000556492.6	protein_coding	5/5				5832		chr14	TogoVar
NAA38_chr17_7851685_7862559	7854843	GCTGCAAG others(20): Show GCTGCAAGACCGTGATTGATGGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-27	c.18 others(38): Show c.1861_*1887delTCCTCCCCATCAATCACGGTCTTGCAG		NAA38	ENSG00000183011.14	transcript	ENST00000575771.6	protein_coding					1841		chr17	TogoVar
NAA80_chr3_50291402_50304405	50304289	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	378	0.0027	-27	c.-53 others(38): Show c.-5313_-5287delATATATATATATATATATATTTTTTTT		NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding					4885		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304291	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	378	0.0027	-27	c.-53 others(38): Show c.-5315_-5289delATATATATATATATATATATATTTTTT		NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding					4887		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304293	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02965.hp1 HG03195.hp2 others(4): Show HG01074.hp2 HG02965.hp1 HG03195.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	7	378	0.0185	-27	c.-53 others(38): Show c.-5317_-5291delATATATATATATATATATATATATTTT		NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding					4889		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304295	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02976.hp1 HG02818.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0030	2	378	0.0053	-27	c.-53 others(38): Show c.-5319_-5293delATATATATATATATATATATATATATT		NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding					4891		chr3	TogoVar
NACC2_chr9_136001537_136100289	136097555	AGCAGGGC others(20): Show AGCAGGGCCTGGGCTGAGTGGGGCTCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0144 a0001c0004t0017g0144	1	348	0.0029	-27	c.-24 others(38): Show c.-2453_-2427delGTGAGCCCCACTCAGCCCAGGCCCTGC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding					2267		chr9	TogoVar
NACC2_chr9_136001537_136100289	136098266	GCTCACCA others(20): Show GCTCACCACCCCCGCCTCATACCCCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	348	0.0029	-27	c.-31 others(38): Show c.-3164_-3138delGGTGGGGTATGAGGCGGGGGTGGTGAG		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding					2978		chr9	TogoVar
NACC2_chr9_136001537_136100289	136100110	CTTTCTGT others(20): Show CTTTCTGTTTTCTGAGTGCTCGCTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0081 a0003c0013t0081	a0003c0013t0081g0035 a0003c0013t0081g0035	1	348	0.0029	-27	c.-50 others(38): Show c.-5008_-4982delAAGGAGCGAGCACTCAGAAAACAGAAA		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding					4822		chr9	TogoVar
NALCN_chr13_101048776_101421508	101092072	ATTATTGT others(20): Show ATTATTGTCATTTTTACCTGCTACCCTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp2 HG02451.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0004 a0001c0001t0004 a0001c0006t0004	a0001c0001t0004g0087 a0001c0006t0004g0174 a0001c0001t0004g0087 a0001c0006t0004g0174	2	176	0.0114	-27	c.327 others(46): Show c.3270-2133_3270-2107delAAGGGTAGCAGGTAAAAATGACAATA A		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	28/43						chr13	TogoVar
NALF1_chr13_107158510_107872496	107284558	GACTGAAC others(20): Show GACTGAACTGTGTCCCGCCCTCCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp2 others(24): Show HG00099.hp2 HG00408.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01993.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02486.hp1 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG04228.hp2 NA18747.hp1 NA18969.hp2 NA18993.hp2 NA19010.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0045 a0001c0001t0065 a0001c0001t0079 a0001c0001t0081 a0001c0001t0085 a0001c0001t0091 a0001c0002t0002 a0001c0002t0049 a0001c0006t0021 a0002c0003t0007 a0002c0003t0077 a0002c0003t0082	a0001c0001t0001g0063 a0001c0001t0002g0053 a0001c0001t0002g0058 others(24): Show a0001c0001t0001g0063 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0003g0104 a0001c0001t0004g0055 a0001c0001t0005g0046 a0001c0001t0005g0060 a0001c0001t0009g0007 a0001c0001t0009g0012 a0001c0001t0015g0095 a0001c0001t0015g0099 a0001c0001t0019g0003 a0001c0001t0024g0013 a0001c0001t0026g0014 a0001c0001t0028g0010 a0001c0001t0045g0039 a0001c0001t0065g0025 a0001c0001t0079g0114 a0001c0001t0081g0098 a0001c0001t0085g0101 a0001c0001t0091g0115 a0001c0002t0002g0086 a0001c0002t0049g0074 a0001c0006t0021g0009 a0002c0003t0007g0126 a0002c0003t0077g0125 a0002c0003t0082g0119	27	128	0.2109	-27	c.916 others(46): Show c.916-73830_916-73804delGAGGGGGAGGGCGGGACACAGTTCAG T		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NAPRT_chr8_143569785_143583330	143575823	GGGTGGGG others(20): Show GGGTGGGGAAGGAGGTGCCAGTGCCCTA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	403	0.0025	-27	c.110 others(44): Show c.1108-148_1108-122delTAGGGCACTGGCACCTCCTTCCCCACC		NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding	8/12						chr8	TogoVar
NAPRT_chr8_143569785_143583330	143575880	TGAAGGGG others(20): Show TGAAGGGGGTGGCAGTGCCCTGGGTGGG	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	403	0.0025	-27	c.110 others(44): Show c.1107+171_1108-179delCCCACCCAGGGCACTGCCACCCCCTTC		NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding	8/12						chr8	TogoVar
NAT16_chr7_101165496_101185293	101172348	TGCACAGC others(20): Show TGCACAGCGTGAGCACGCGCGGGCGCGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19057.hp2 NA19057.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0017 a0006c0007t0017	a0006c0007t0017g0083 a0006c0007t0017g0083	1	422	0.0024	-27	c.814 others(34): Show c.814_840delGCGCGCCCGCGCGTGCTCACGCTGTGC	p.Ala others(13): Show p.Ala272_Cys280del	NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding	4/4	1096/2949	814/1110	272/369			chr7	TogoVar
NAV1_chr1_201534127_201831969	201642970	TTCACCGT others(20): Show TTCACCGTGTTAGCCAGGATGGTCTCAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp1 NA20129.hp1 HG02886.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0047 a0001c0001t0070 a0001c0006t0021 a0001c0001t0047 a0001c0001t0070 a0001c0006t0021	a0001c0001t0047g0200 a0001c0001t0070g0163 a0001c0006t0021g0210 a0001c0001t0047g0200 a0001c0001t0070g0163 a0001c0006t0021g0210	3	210	0.0143	-27	c.827 others(44): Show c.827-5661_827-5635delACCGTGTTAGCCAGGATGGTCTCAATC		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBEA_chr13_34937270_35677736	35476296	CCTGCTGC others(20): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02976.hp2 others(2): Show HG01891.hp2 HG02818.hp2 HG02976.hp2 HG03195.hp2 NA19057.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0008t0001	a0001c0001t0001g0092 a0001c0001t0002g0048 a0001c0002t0001g0115 others(2): Show a0001c0001t0001g0092 a0001c0001t0002g0048 a0001c0002t0001g0115 a0004c0008t0001g0121 a0004c0008t0001g0122	5	122	0.0410	-27	c.658 others(46): Show c.6585+3793_6585+3819delGCTGCTGCTGCTGCTGCTGCTGCTGC T		NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58					INFO_REALIGN_3_PRIME	chr13	TogoVar
NBL1_chr1_19639311_19663452	19655230	CGGACAGG others(20): Show CGGACAGGGGTCCAAGGAGGGAGGAAGA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0055 a0001c0001t0032g0055	1	412	0.0024	-27	c.170 others(40): Show c.170+35_170+61delAGGGGTCCAAGGAGGGAGGAAGAGGAC		NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBN_chr8_89928331_89989667	89989225	CATCTCCT others(20): Show CATCTCCTCTCACCTCTGTCATGGTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0003 a0002c0001t0003g0003	1	390	0.0026	-27	c.-46 others(38): Show c.-4691_-4665delTATACCATGACAGAGGTGAGAGGAGAT		NBN	ENSG00000104320.15	transcript	ENST00000265433.8	protein_coding					4559		chr8	TogoVar
NCAM2_chr21_20993409_21548329	21146925	TACCGCTG others(20): Show TACCGCTGCCTTCTACTCCGGAACTCAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	132	0.0076	-27	c.56- others(46): Show c.56-133607_56-133581delGGAACTCAGACCGCTGCCTTCTACTC C		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667523	CCTTACCT others(20): Show CCTTACCTACCCTGTGGCCCTCCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02015.hp1 HG02486.hp1 others(4): Show HG01243.hp2 HG02015.hp1 HG02486.hp1 HG03453.hp1 NA18954.hp1 NA18966.hp2 NA18994.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0016 a0001c0001 a0001c0004 a0011c0016	a0001c0001t0001 a0001c0004t0002 a0011c0016t0001 a0001c0001t0001 a0001c0004t0002 a0011c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0164 a0001c0001t0001g0165 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0266 a0001c0004t0002g0186 a0001c0004t0002g0188 a0011c0016t0001g0162	7	378	0.0185	-27	c.148 others(46): Show c.1480-2800_1480-2774delCGGGTGGAGGGCCACAGGGTAGGTAA G		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar

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