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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Results per page.

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
NR2E3_chr15_71805554_71823253	71810971	CGCCGGCT others(16): Show CGCCGGCTGTGGGCAAGGGTGGGG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	424	0.0024	-23	c.118 others(38): Show c.118+111_118+133delGCCGGCTGTGGGCAAGGGTGGGG	NR2E3	ENSG00000278570.5	transcript	ENST00000617575.5	protein_coding	1/7			chr15	TogoVar
NR2F1_chr5_93578222_93599611	93581725	TCTCTCTC others(16): Show TCTCTCTCTCCCCCTCTCCCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	294	0.0034	-23	c.-32 others(34): Show c.-3298_-3276delCTCTCTCTCCCCCTCTCCCTCTC	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1496		chr5	TogoVar
NR2F1_chr5_93578222_93599611	93581980	CTCTCTCT others(16): Show CTCTCTCTCTCCCCTCTCCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	294	0.0034	-23	c.-30 others(34): Show c.-3043_-3021delTCTCTCTCTCCCCTCTCCTCTCT	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1241		chr5	TogoVar
NR3C1_chr5_143272934_143408686	143306874	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	266	0.0038	-23	c.146 others(42): Show c.1468+3200_1468+3222delAAAAAAAAAAAAAAAAAAAAAAA	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding	4/8			chr5	TogoVar
NR3C2_chr4_148073764_148447414	148237636	TGTAGAAG others(16): Show TGTAGAAGTTGGAGCACTGCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(109): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0003c0004 a0004c0005 a0006c0009 a0007c0008 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0006t0006 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0004t0001 a0004c0005t0004 a0006c0009t0007 a0007c0008t0018 a0008c0011t0006	a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0083 others(109): Show a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0003g0014 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0122 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0156 a0001c0001t0004g0160 a0001c0001t0004g0167 a0001c0001t0005g0017 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0103 a0001c0001t0005g0108 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0007g0136 a0001c0001t0007g0146 a0001c0001t0007g0149 a0001c0001t0007g0151 a0001c0001t0008g0085 a0001c0001t0008g0088 a0001c0001t0008g0094 a0001c0001t0009g0019 a0001c0001t0010g0110 a0001c0001t0011g0124 a0001c0001t0011g0161 a0001c0001t0012g0169 a0001c0001t0012g0170 a0001c0001t0017g0127 a0001c0001t0019g0050 a0001c0001t0020g0114 a0001c0001t0021g0157 a0001c0001t0022g0126 a0001c0001t0023g0168 a0001c0003t0001g0012 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0005g0013 a0001c0006t0006g0067 a0001c0006t0006g0068 a0001c0007t0003g0154 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0045 a0002c0002t0005g0038 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0004c0005t0004g0015 a0006c0009t0007g0166 a0007c0008t0018g0130 a0008c0011t0006g0106	112	170	0.6588	-23	c.189 others(44): Show c.1897+22319_1897+22341delTTGGGCAGTGCTCCAACTTCTAC	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	3/8			chr4	TogoVar
NR5A1_chr9_124476236_124512399	124510445	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0124 a0001c0013t0002g0124	1	356	0.0028	-23	c.-32 others(34): Show c.-3235_-3213delATATATATATATATTTTTTTTTT	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding		3047		chr9	TogoVar
NR5A1_chr9_124476236_124512399	124510453	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA19064.hp2 NA18945.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0065 a0002c0002t0001g0023 a0002c0002t0001g0065	2	356	0.0056	-23	c.-32 others(34): Show c.-3243_-3221delATATATATATATATATATATATT	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding		3055		chr9	TogoVar
NRAP_chr10_113583714_113669041	113666081	CAGCCCCT others(16): Show CAGCCCCTCCTGCTCCTTGGCCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01891.hp1 others(18): Show HG01081.hp2 HG01109.hp2 HG01891.hp1 HG01891.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0011 a0021 a0026 others(7): Show a0011 a0021 a0026 a0027 a0028 a0033 a0045 a0054 a0059 a0080	a0011c0026 a0021c0071 a0021c0072 others(12): Show a0011c0026 a0021c0071 a0021c0072 a0021c0073 a0026c0034 a0026c0050 a0027c0032 a0027c0049 a0028c0033 a0028c0048 a0033c0028 a0045c0036 a0054c0051 a0059c0058 a0080c0074	a0011c0026t0002 a0021c0071t0002 a0021c0072t0001 others(13): Show a0011c0026t0002 a0021c0071t0002 a0021c0072t0001 a0021c0073t0001 a0026c0034t0002 a0026c0050t0002 a0027c0032t0002 a0027c0049t0002 a0028c0033t0001 a0028c0048t0001 a0033c0028t0002 a0045c0036t0002 a0045c0036t0008 a0054c0051t0001 a0059c0058t0002 a0080c0074t0001	a0011c0026t0002g0237 a0021c0071t0002g0269 a0021c0072t0001g0271 others(18): Show a0011c0026t0002g0237 a0021c0071t0002g0269 a0021c0072t0001g0271 a0021c0073t0001g0270 a0026c0034t0002g0236 a0026c0034t0002g0238 a0026c0050t0002g0229 a0027c0032t0002g0230 a0027c0032t0002g0231 a0027c0049t0002g0266 a0028c0033t0001g0059 a0028c0033t0001g0060 a0028c0048t0001g0058 a0033c0028t0002g0232 a0033c0028t0002g0233 a0033c0028t0002g0234 a0045c0036t0002g0267 a0045c0036t0008g0057 a0054c0051t0001g0235 a0059c0058t0002g0239 a0080c0074t0001g0268	21	398	0.0528	-23	c.-22 others(34): Show c.-2222_-2200delTAGGCCAAGGAGCAGGAGGGGCT	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding		2041		chr10	TogoVar
NRBP1_chr2_27423631_27447259	27427289	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	276	0.0036	-23	c.-14 others(34): Show c.-1462_-1440delTATATATATATATATATATATAT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1341		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427293	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 NA18963.hp2 HG01358.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0050 a0001c0003t0001g0001 a0001c0001t0001g0050 a0001c0003t0001g0001	2	276	0.0073	-23	c.-14 others(34): Show c.-1458_-1436delTATATATATATATATATATTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1337		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427297	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0003 a0001c0001t0001g0045	2	276	0.0073	-23	c.-14 others(34): Show c.-1454_-1432delTATATATATATATATTTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1333		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427299	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02004.hp1 HG03491.hp2 HG01081.hp1 HG02004.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	3	276	0.0109	-23	c.-14 others(34): Show c.-1452_-1430delTATATATATATATTTTTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1331		chr2	TogoVar
NRDE2_chr14_90262860_90336941	90307797	GATGCAAT others(16): Show GATGCAATATAGCTCACTGCAGTT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0154 a0001c0001t0026g0154	1	344	0.0029	-23	c.558 others(40): Show c.558-3438_558-3416delAACTGCAGTGAGCTATATTGCAT	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	4/13			chr14	TogoVar
NRG1_chr8_32543311_32779046	32608084	TTTTTTTT others(16): Show TTTTTTTTGTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0001 a0004 a0001 a0004	a0001c0015 a0004c0014 a0001c0015 a0004c0014	a0001c0015t0127 a0004c0014t0091 a0001c0015t0127 a0004c0014t0091	a0001c0015t0127g0181 a0004c0014t0091g0176 a0001c0015t0127g0181 a0004c0014t0091g0176	2	244	0.0082	-23	c.400 others(40): Show c.400+2409_400+2431delGTTTTTTTTTTTTTTGTTTTTTT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG1_chr8_32543311_32779046	32772035	AAATATGT others(16): Show AAATATGTATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0195 a0003c0003t0029g0196 a0003c0003t0029g0195 a0003c0003t0029g0196	2	244	0.0082	-23	c.76 others(34): Show c.7635_*7657delATATGTATATATATATATATATA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	12/12	7635	INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG3_chr10_81870194_82992178	82097407	CATATATA others(16): Show CATATATATATATCTGTAATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02818.hp1 others(3): Show HG02572.hp2 HG02622.hp1 HG02818.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0002c0003t0004	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0005g0049 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0005g0049 a0001c0002t0002g0008 a0002c0003t0004g0017 a0002c0003t0004g0019	6	66	0.0909	-23	c.823 others(44): Show c.823+221272_823+221294delATATATATCTGTAATATATATAT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82102113	CATATATA others(16): Show CATATATATATATGTGTATTCATA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	66	0.0152	-23	c.823 others(44): Show c.823+225951_823+225973delATATATATATATGTGTATTCATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8			chr10	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01169.hp2 HG01346.hp2 others(2): Show HG01123.hp1 HG01169.hp2 HG01346.hp2 HG02055.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0025 others(2): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0025 a0001c0001t0053 a0001c0001t0059	a0001c0001t0003g0029 a0001c0001t0018g0114 a0001c0001t0025g0012 others(2): Show a0001c0001t0003g0029 a0001c0001t0018g0114 a0001c0001t0025g0012 a0001c0001t0053g0052 a0001c0001t0059g0060	5	116	0.0431	-23	c.336 others(44): Show c.3364+65630_3364+65652delTTTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50495357	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp2 HG01433.hp2 others(13): Show HG00738.hp2 HG01346.hp2 HG01433.hp2 HG02074.hp2 HG02280.hp2 HG02559.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp2 HG03942.hp1 NA18975.hp1 NA19012.hp2 NA20752.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 a0001c0001t0042 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0034 a0001c0002t0048 a0001c0004t0007 a0004c0013t0001	a0001c0001t0001g0040 a0001c0001t0004g0011 a0001c0001t0015g0037 others(13): Show a0001c0001t0001g0040 a0001c0001t0004g0011 a0001c0001t0015g0037 a0001c0001t0018g0114 a0001c0001t0042g0045 a0001c0001t0053g0052 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0005g0084 a0001c0002t0010g0106 a0001c0002t0034g0098 a0001c0002t0048g0109 a0001c0004t0007g0090 a0001c0004t0007g0093 a0004c0013t0001g0111	16	116	0.1379	-23	c.307 others(40): Show c.3070+525_3070+547delCACACACACACACACACACACAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	15/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	79049022	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03453.hp1 HG01081.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0011 a0002c0005t0005 a0001c0002t0011 a0002c0005t0005	a0001c0002t0011g0016 a0002c0005t0005g0002 a0001c0002t0011g0016 a0002c0005t0005g0002	2	24	0.0833	-23	c.326 others(44): Show c.3262+60911_3262+60933delAAAAAAAAAAAAAAAAAAAAAAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79049052	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp2 HG01243.hp2 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0001 a0001c0010t0001 a0001c0006t0001 a0001c0010t0001	a0001c0006t0001g0023 a0001c0010t0001g0012 a0001c0006t0001g0023 a0001c0010t0001g0012	2	24	0.0833	-23	c.326 others(44): Show c.3262+60914_3262+60936delAAAAAAAAAAAAAAAAAAAATAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79049055	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0022 a0002c0005t0016g0022	1	24	0.0417	-23	c.326 others(44): Show c.3262+60917_3262+60939delAAAAAAAAAAAAAAAAATAATAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79791505	GTAATTAT others(16): Show GTAATTATAATTAATTATATATTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02922.hp1 others(4): Show HG01081.hp1 HG01884.hp2 HG02922.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0002c0005	a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 others(4): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0004t0005 a0001c0007t0002 a0001c0010t0001 a0002c0005t0005	a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0001t0014g0004 others(4): Show a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0001t0014g0004 a0001c0004t0005g0003 a0001c0007t0002g0020 a0001c0010t0001g0012 a0002c0005t0005g0002	7	24	0.2917	-23	c.401 others(44): Show c.4015-13602_4015-13580delTATAATTAATTATATATTATAAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177159007	TATATATA others(16): Show TATATATATATATATATATGAATG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02896.hp2 others(1): Show HG02630.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0021 a0006c0008t0062 a0006c0008t0021 a0006c0008t0062	a0006c0008t0021g0142 a0006c0008t0021g0143 a0006c0008t0021g0145 others(1): Show a0006c0008t0021g0142 a0006c0008t0021g0143 a0006c0008t0021g0145 a0006c0008t0062g0144	4	298	0.0134	-23	c.927 others(42): Show c.927+23002_927+23024delTATATATATATATATATGAATGA	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMCE2_chr8_125086860_125372120	125367509	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03225.hp1 NA20129.hp1 HG02818.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0179	3	244	0.0123	-23	c.62 others(32): Show c.625_*647delAAAAAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding		390		chr8	TogoVar
NT5C3A_chr7_33009130_33067776	33056473	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG03041.hp1 others(3): Show HG02055.hp1 HG02622.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0052 a0001c0002t0004g0068 others(2): Show a0001c0002t0004g0004 a0001c0002t0004g0052 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0109	6	400	0.0150	-23	c.138 others(40): Show c.138+6072_138+6094delTTTTTTTTTTTTTTTTTTTTTTT	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding	1/8			chr7	TogoVar
NT5DC1_chr6_116095853_116254497	116241922	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	300	0.0033	-23	c.125 others(42): Show c.1253-1972_1253-1950delAACAAAACAAAAAAAAAAAAAAA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC3_chr12_103767310_103846234	103824690	GATGCCAC others(16): Show GATGCCACCAACACAATAAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00738.hp1 others(39): Show HG00099.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02109.hp2 HG02148.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03654.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18951.hp1 NA18967.hp2 NA18971.hp1 NA19007.hp1 NA19056.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0023 a0001c0001t0028 a0001c0001t0040 a0001c0001t0041 a0001c0001t0081 a0001c0001t0095 a0001c0005t0087	a0001c0001t0001g0089 a0001c0001t0005g0022 a0001c0001t0005g0047 others(37): Show a0001c0001t0001g0089 a0001c0001t0005g0022 a0001c0001t0005g0047 a0001c0001t0005g0058 a0001c0001t0005g0117 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0264 a0001c0001t0006g0004 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0033 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0099 a0001c0001t0006g0371 a0001c0001t0007g0243 a0001c0001t0007g0260 a0001c0001t0011g0342 a0001c0001t0011g0343 a0001c0001t0011g0344 a0001c0001t0023g0051 a0001c0001t0023g0242 a0001c0001t0028g0003 a0001c0001t0028g0326 a0001c0001t0040g0088 a0001c0001t0040g0231 a0001c0001t0041g0178 a0001c0001t0081g0348 a0001c0001t0095g0169 a0001c0005t0087g0279	42	386	0.1088	-23	c.209 others(40): Show c.209-9592_209-9570delTGCCTTTATTGTGTTGGTGGCAT	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NTM_chr11_131365615_132341822	131521383	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	86	0.0116	-23	c.82+ others(42): Show c.82+150512_82+150534delTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131598743	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	86	0.0116	-23	c.82+ others(42): Show c.82+227870_82+227892delCTTTCTTTTTTTCTTTCTTTCTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131598811	CTTCTTTC others(16): Show CTTCTTTCTTTCTTTCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp2 HG03471.hp2 HG00642.hp1 HG02109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0003 a0001c0001t0001 a0001c0001t0008 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0008g0070 a0001c0002t0003g0016 a0001c0001t0001g0002 a0001c0001t0008g0070 a0001c0002t0003g0016	3	86	0.0349	-23	c.82+ others(42): Show c.82+227942_82+227964delTTTCTTTCTTTCTTTCTTTCTTC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873539	TATATATA others(16): Show TATATATATACATATATATATACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0015	1	86	0.0116	-23	c.83- others(40): Show c.83-38024_83-38002delATATATATACATATATATATACC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTM_chr11_131365615_132341822	131873551	TATATATA others(16): Show TATATATATACCGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0030 a0001c0001t0005g0001 a0001c0001t0003g0030 a0001c0001t0005g0001	2	86	0.0233	-23	c.83- others(40): Show c.83-38003_83-37981delCCGTATATATATACATATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131878593	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	86	0.0116	-23	c.83- others(40): Show c.83-32969_83-32947delATATATATATATATATATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131939359	CTGGATAA others(16): Show CTGGATAAGATGATAGCTTGAGGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	86	0.0116	-23	c.167 others(42): Show c.167+27713_167+27735delGGATAAGATGATAGCTTGAGGAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132111063	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01515.hp2 HG01978.hp2 others(4): Show HG01071.hp1 HG01515.hp2 HG01978.hp2 HG02602.hp2 HG02735.hp1 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0005	a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0002g0053 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0002g0053 a0001c0001t0002g0079 a0001c0001t0004g0029 a0001c0001t0005g0082 a0001c0002t0005g0039	7	86	0.0814	-23	c.168 others(42): Show c.168-35194_168-35172delAAAAAAAAAAAAAAAAAAAAAAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132328081	TCTGGAAG others(16): Show TCTGGAAGCAGGACACAACACACA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 NA18522.hp2 others(1): Show HG01074.hp1 HG01884.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0047 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0047 a0001c0001t0002g0064	4	86	0.0465	-23	c.935 others(40): Show c.935-2066_935-2044delAGCAGGACACAACACACACTGGA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9173538	AGGGAGCA others(16): Show AGGGAGCAGCCTGGCCCACGCCGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00597.hp1 others(53): Show HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG03130.hp1 HG03490.hp1 HG03710.hp1 HG04184.hp2 HG04228.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18984.hp2 NA18999.hp1 NA19065.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0036 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0038 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0065 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0155 a0001c0001t0002g0197 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0234 a0001c0001t0003g0022 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0006g0091 a0001c0001t0006g0170 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0009g0156 a0001c0001t0010g0236 a0001c0001t0011g0192 a0001c0001t0013g0020 a0001c0001t0026g0175 a0001c0001t0027g0174 a0001c0001t0028g0176 a0001c0001t0036g0082 a0001c0001t0050g0142 a0001c0002t0001g0058 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0166 a0001c0002t0001g0213 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0003g0193 a0001c0002t0003g0228 a0001c0002t0003g0239 a0001c0002t0010g0134 a0001c0002t0010g0145 a0001c0002t0038g0130 a0001c0002t0051g0164 a0001c0002t0053g0131 a0001c0003t0001g0031 a0001c0003t0001g0100 a0001c0003t0001g0221 a0001c0004t0002g0071	56	258	0.2171	-23	c.120 others(42): Show c.1208-6265_1208-6243delAGCAGCCTGGCCCACGCCGTGGG	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTRK1_chr1_156855865_156886850	156873443	TAAAATGT others(16): Show TAAAATGTATTGTCAACTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02258.hp1 others(4): Show HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02976.hp2 HG03195.hp2 NA19043.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0009 a0001c0019 others(2): Show a0001c0001 a0001c0009 a0001c0019 a0001c0024 a0015c0017	a0001c0001t0001 a0001c0009t0001 a0001c0019t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0001c0019t0001 a0001c0024t0001 a0015c0017t0001	a0001c0001t0001g0313 a0001c0009t0001g0049 a0001c0009t0001g0179 others(4): Show a0001c0001t0001g0313 a0001c0009t0001g0049 a0001c0009t0001g0179 a0001c0009t0001g0340 a0001c0019t0001g0045 a0001c0024t0001g0339 a0015c0017t0001g0064	7	392	0.0179	-23	c.851 others(38): Show c.851-185_851-163delTGTATTGTCAACTTTCTTCAAAA	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK3_chr15_87854751_88261739	88197094	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG02257.hp2 others(7): Show HG01255.hp2 HG01884.hp1 HG02257.hp2 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0014 a0001c0003t0007 a0001c0003t0010 others(5): Show a0001c0001t0014 a0001c0003t0007 a0001c0003t0010 a0001c0003t0017 a0001c0004t0070 a0001c0005t0002 a0001c0006t0006 a0001c0006t0010	a0001c0001t0014g0046 a0001c0003t0007g0017 a0001c0003t0010g0006 others(7): Show a0001c0001t0014g0046 a0001c0003t0007g0017 a0001c0003t0010g0006 a0001c0003t0017g0079 a0001c0003t0017g0118 a0001c0004t0070g0070 a0001c0005t0002g0092 a0001c0006t0006g0029 a0001c0006t0010g0111 a0001c0006t0010g0112	10	134	0.0746	-23	c.249 others(42): Show c.249-12818_249-12796delTTTTTTTTTTTTTTTTTTTTTTT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19			chr15	TogoVar
NTSR1_chr20_62703836_62767771	62767663	AGAAGGTT others(16): Show AGAAGGTTGAAGGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0051 a0001c0001t0009g0051	1	316	0.0032	-23	c.73 others(34): Show c.7397_*7419delGAAGGTTGAAGGAAGGAAGGAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4893		chr20	TogoVar
NUBPL_chr14_31556404_31866224	31727737	TTAAATCC others(16): Show TTAAATCCAAATAGCAAGTTCTAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	268	0.0037	-23	c.513 others(42): Show c.513+54194_513+54216delAAATAGCAAGTTCTAATAAATCC	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB1_chr19_48895312_48928372	48903956	GGATGGGT others(16): Show GGATGGGTGGATGGATGGATGGAT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02965.hp2 HG03225.hp1 HG01346.hp2 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	3	398	0.0075	-23	c.136 others(38): Show c.136-379_136-357delGGATGGATGGATGATGGGTGGAT	NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDC_chr1_26916743_26951871	26936151	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	254	0.0039	-23	c.160 others(40): Show c.160-5304_160-5282delATATATATATATATTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936155	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20300.hp2 HG02109.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0240 a0001c0001t0001g0245	2	254	0.0079	-23	c.160 others(40): Show c.160-5300_160-5278delATATATATATTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUMB_chr14_73270216_73463546	73352501	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG02165.hp2 others(4): Show HG00558.hp2 HG01070.hp1 HG02165.hp2 HG03834.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0149 a0001c0001t0002g0189 a0001c0001t0002g0213 others(4): Show a0001c0001t0002g0149 a0001c0001t0002g0189 a0001c0001t0002g0213 a0001c0001t0002g0233 a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0261	7	322	0.0217	-23	c.126 others(40): Show c.126+3102_126+3124delTATATATATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	322	0.0031	-23	c.-23 others(44): Show c.-233+13116_-233+13138delTTTTTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP160_chr11_47773118_47853350	47782296	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18982.hp1 NA18956.hp2 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0081 a0002c0002t0001g0032 a0002c0002t0001g0081	2	338	0.0059	-23	c.401 others(40): Show c.4014+754_4014+776delATATATATATATATATTTTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782298	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02738.hp2 HG03239.hp2 others(2): Show HG01433.hp2 HG02738.hp2 HG03239.hp2 HG03704.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0033 a0002c0002t0001g0076 others(2): Show a0002c0002t0001g0020 a0002c0002t0001g0033 a0002c0002t0001g0076 a0002c0002t0001g0096 a0002c0002t0001g0098	5	338	0.0148	-23	c.401 others(40): Show c.4014+752_4014+774delATATATATATATATATATTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782300	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA20905.hp2 HG03669.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0117 a0002c0002t0001g0017 a0002c0002t0001g0117	2	338	0.0059	-23	c.401 others(40): Show c.4014+750_4014+772delATATATATATATATATATATTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar

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