Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
NME4_chr16_392199_405754	395463	A A	ACATGATG others(14): Show ACATGATGTTTTTTCTTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	356	0.0028	21	c.-17 others(32): Show c.-1760_-1759insCATGATGTTTTTTCTTTTCTT		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding					1735		chr16	TogoVar
NME5_chr5_138110175_138144428	138122441	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03579.hp2 HG02451.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0190 a0001c0001t0001g0023 a0001c0001t0001g0190	3	388	0.0077	21	c.437 others(38): Show c.437-3526_437-3506dupTTTTTTTTTTTTTTTTTTTTT		NME5	ENSG00000112981.5	transcript	ENST00000265191.4	protein_coding	4/5						chr5	TogoVar
NME7_chr1_169127531_169372797	169355304	T T	TAATATAT others(14): Show TAATATATTGTATATTATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02922.hp2 others(4): Show HG02280.hp2 HG02451.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 others(4): Show a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267	7	302	0.0232	21	c.3+1 others(36): Show c.3+12403_3+12404insGTATATAATATACAATATATT		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME7_chr1_169127531_169372797	169355311	T T	TTGTATAT others(14): Show TTGTATATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG02257.hp1 others(3): Show HG00639.hp1 HG01255.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0280 a0001c0002t0001g0290 others(3): Show a0001c0002t0001g0145 a0001c0002t0001g0280 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294	6	302	0.0199	21	c.3+1 others(36): Show c.3+12396_3+12397insGTATATTATATATAATATACA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02273.hp1 HG03491.hp2 others(3): Show HG02257.hp1 HG02273.hp1 HG03491.hp2 HG04204.hp1 NA19006.hp2 NA19010.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0003g0094 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0003g0094 a0001c0004t0003g0103 a0004c0005t0001g0043 a0004c0005t0003g0009	6	388	0.0155	21	c.-17 others(32): Show c.-1796_-1795insGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAGG others(14): Show GGAAGAGGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00741.hp2 HG01192.hp2 others(7): Show HG00597.hp1 HG00741.hp2 HG01192.hp2 HG01928.hp1 HG02135.hp2 HG02723.hp1 HG04115.hp1 NA18945.hp2 NA19080.hp1 NA20752.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0008	a0003c0003 a0003c0010 a0005c0006 others(3): Show a0003c0003 a0003c0010 a0005c0006 a0005c0019 a0006c0011 a0008c0013	a0003c0003t0002 a0003c0010t0002 a0005c0006t0002 others(3): Show a0003c0003t0002 a0003c0010t0002 a0005c0006t0002 a0005c0019t0002 a0006c0011t0002 a0008c0013t0002	a0003c0003t0002g0330 a0003c0010t0002g0321 a0005c0006t0002g0287 others(7): Show a0003c0003t0002g0330 a0003c0010t0002g0321 a0005c0006t0002g0287 a0005c0006t0002g0288 a0005c0006t0002g0293 a0005c0019t0002g0304 a0005c0019t0002g0305 a0006c0011t0002g0278 a0008c0013t0002g0023 a0008c0013t0002g0314	10	388	0.0258	21	c.-17 others(32): Show c.-1796_-1795insGAAGAGGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02165.hp1 NA18945.hp1 others(6): Show HG02040.hp2 HG02165.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18970.hp1 NA19003.hp2 NA19056.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0018	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0002c0020 a0007c0018 a0018c0035	a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 a0002c0020t0001 a0007c0018t0001 a0018c0035t0001	a0001c0001t0001g0224 a0002c0002t0001g0212 a0002c0002t0001g0219 others(6): Show a0001c0001t0001g0224 a0002c0002t0001g0212 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0240 a0002c0008t0001g0179 a0002c0020t0001g0201 a0007c0018t0001g0192 a0018c0035t0001g0182	9	388	0.0232	21	c.-17 others(32): Show c.-1784_-1783insGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01123.hp2 NA18942.hp1 others(1): Show HG00423.hp2 HG01123.hp2 NA18942.hp1 NA18963.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 others(1): Show a0001c0001 a0001c0004 a0004c0005 a0004c0012	a0001c0001t0004 a0001c0004t0004 a0004c0005t0004 others(1): Show a0001c0001t0004 a0001c0004t0004 a0004c0005t0004 a0004c0012t0004	a0001c0001t0004g0003 a0001c0004t0004g0267 a0004c0005t0004g0261 others(1): Show a0001c0001t0004g0003 a0001c0004t0004g0267 a0004c0005t0004g0261 a0004c0012t0004g0241	4	388	0.0103	21	c.-17 others(32): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37848313	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0323 a0003c0015t0002g0323	1	388	0.0026	21	c.-65 others(30): Show c.-656_-655insAGGAGAAGGAGAAGGAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					283		chr7	TogoVar
NME8_chr7_37843597_37905397	37848316	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0324 a0003c0003t0002g0324	1	388	0.0026	21	c.-65 others(30): Show c.-653_-652insAGGAGAAGGAGAAGGAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					280		chr7	TogoVar
NME8_chr7_37843597_37905397	37848325	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0326 a0003c0003t0002g0326	1	388	0.0026	21	c.-64 others(30): Show c.-644_-643insAGGAGAAGGAGAAGGAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					271		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAACAAGA others(14): Show GAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0001 a0016c0037t0001	a0016c0037t0001g0218 a0016c0037t0001g0218	1	388	0.0026	21	c.-62 others(30): Show c.-624_-623insAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAAGA others(14): Show GAAGAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18956.hp1 NA18979.hp2 others(3): Show HG02155.hp1 NA18956.hp1 NA18979.hp2 NA18986.hp2 NA19004.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0009 a0002c0002 a0002c0008 a0002c0009	a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 a0002c0002t0001 a0002c0008t0001 a0002c0009t0001	a0002c0002t0001g0016 a0002c0002t0001g0222 a0002c0008t0001g0210 others(3): Show a0002c0002t0001g0016 a0002c0002t0001g0222 a0002c0008t0001g0210 a0002c0008t0001g0239 a0002c0008t0001g0273 a0002c0009t0001g0001	6	388	0.0155	21	c.-62 others(30): Show c.-624_-623insAAGAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0017 a0001c0001t0030g0017	1	258	0.0039	21	c.86- others(38): Show c.86-47953_86-47933dupTTTTTTTTTTTTTTTTTTTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMU_chr4_55590231_55641298	55593359	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	412	0.0024	21	c.20 others(32): Show c.2056_*2057insTTTTTTTTTTTTTTTTTTTTT		NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding					1871		chr4	TogoVar
NOC3L_chr10_94328226_94367939	94329776	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	380	0.0026	21	c.43 others(32): Show c.4380_*4400dupTTTTTTTTTTTTTTTTTTTTT		NOC3L	ENSG00000173145.11	transcript	ENST00000371361.3	protein_coding					3449		chr10	TogoVar
NOD2_chr16_50688606_50738075	50727669	A A	ATAGTCCA others(14): Show ATAGTCCAATTCATTCAACTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	312	0.0032	21	c.288 others(40): Show c.2885+2099_2885+2119dupAGTCCAATTCATTCAACTTTT		NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL10_chr2_10565754_10694975	10607750	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01106.hp2 others(41): Show HG00323.hp1 HG00673.hp2 HG01106.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp2 HG03942.hp1 HG04115.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp2 NA18964.hp2 NA18980.hp1 NA18984.hp2 NA18989.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19074.hp2 NA20300.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0009	a0001c0002 a0003c0006 a0005c0012 others(3): Show a0001c0002 a0003c0006 a0005c0012 a0006c0010 a0007c0009 a0009c0013	a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 others(5): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 a0003c0006t0002 a0005c0012t0002 a0006c0010t0002 a0007c0009t0002 a0009c0013t0002	a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 others(41): Show a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0248 a0001c0002t0002g0252 a0001c0002t0002g0267 a0001c0002t0002g0270 a0001c0002t0002g0277 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0345 a0001c0002t0002g0348 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0018g0257 a0003c0006t0002g0104 a0003c0006t0002g0105 a0003c0006t0002g0106 a0003c0006t0002g0110 a0005c0012t0002g0276 a0006c0010t0002g0239 a0007c0009t0002g0234 a0009c0013t0002g0347	44	372	0.1183	21	c.102 others(38): Show c.1027-460_1027-440dupTAATAATAATAATAATAATAA		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10680313	A A	AAGAGGGA others(14): Show AAGAGGGAGAGGGAGAAGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02717.hp1 others(2): Show HG02572.hp1 HG02647.hp2 HG02717.hp1 HG03195.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 others(2): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0004c0007t0001g0258 a0004c0007t0001g0266	5	372	0.0134	21	c.211 others(38): Show c.211+1657_211+1658insCCCTCTTCTCCCTCTCCCTCT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	3/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	372	0.0027	21	c.-55 others(30): Show c.-555_-554insTTTTTTTTTTTTTTTTTTTTT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding					441		chr2	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02717.hp2 HG01934.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0002g0030 a0001c0001t0001g0177 a0001c0001t0002g0030	2	196	0.0102	21	c.700 others(40): Show c.700-10337_700-10317dupTTTTTTTTTTTTTTTTTTTTT		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG03195.hp1 others(1): Show HG02723.hp2 HG02970.hp2 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 a0001c0001t0001 a0001c0001t0005 a0001c0006t0003	a0001c0001t0001g0088 a0001c0001t0001g0151 a0001c0001t0005g0102 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0151 a0001c0001t0005g0102 a0001c0006t0003g0152	4	168	0.0238	21	c.639 others(38): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTTTTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10						chr18	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03471.hp2 NA19057.hp1 HG02155.hp2 HG03471.hp2 NA19057.hp1	a0003 a0005 a0012 a0003 a0005 a0012	a0003c0003 a0005c0006 a0012c0023 a0003c0003 a0005c0006 a0012c0023	a0003c0003t0002 a0005c0006t0002 a0012c0023t0002 a0003c0003t0002 a0005c0006t0002 a0012c0023t0002	a0003c0003t0002g0244 a0005c0006t0002g0246 a0012c0023t0002g0245 a0003c0003t0002g0244 a0005c0006t0002g0246 a0012c0023t0002g0245	3	426	0.0070	21	c.130 others(38): Show c.1308+244_1308+245insTTTTTTTTTTTTTTTTTTTTT		NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18987.hp1 NA18948.hp2 NA18987.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0035 a0006c0009t0001g0293 a0001c0001t0001g0035 a0006c0009t0001g0293	2	337	0.0059	21	c.180 others(38): Show c.1806+486_1806+487insATATATATATATATATATATT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0279 a0005c0006t0001g0279	1	337	0.0030	21	c.180 others(38): Show c.1806+486_1806+487insATATATATATATATATATTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00642.hp1 others(15): Show HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01106.hp2 HG01884.hp2 HG02293.hp1 HG02698.hp2 HG03490.hp1 NA18948.hp2 NA18960.hp1 NA18986.hp1 NA19007.hp1 NA19068.hp1 NA19074.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0029 a0001c0002t0033 a0001c0003t0003	a0001c0001t0001g0020 a0001c0001t0001g0138 a0001c0001t0002g0122 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0138 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0004g0150 a0001c0002t0001g0001 a0001c0002t0001g0111 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0002g0115 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0119 a0001c0002t0029g0121 a0001c0002t0033g0107 a0001c0003t0003g0149	18	182	0.0989	21	c.105 others(40): Show c.105+11493_105+11494insATATATATTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01243.hp2 others(4): Show HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01517.hp2 HG04115.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(4): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0001t0002g0143 a0001c0002t0002g0147 a0001c0002t0004g0124	7	182	0.0385	21	c.105 others(40): Show c.105+11493_105+11494insATATATTTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162289196	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02071.hp2 HG02572.hp1 others(3): Show HG01934.hp2 HG02071.hp2 HG02572.hp1 HG03831.hp1 NA19007.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0003t0006 a0001c0005t0007	a0001c0001t0001g0026 a0001c0002t0001g0018 a0001c0002t0001g0031 others(3): Show a0001c0001t0001g0026 a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0003t0003g0173 a0001c0003t0006g0114 a0001c0005t0007g0010	6	182	0.0330	21	c.270 others(38): Show c.270+1774_270+1775insCCTTCCTTTCCTTCCTTCCTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0193 a0001c0001t0111g0193	1	294	0.0034	21	c.253 others(40): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28						chr12	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146161930	T T	TGGTCCCG others(14): Show TGGTCCCGCCTGGATGAATGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01099.hp1 HG01515.hp2 others(12): Show HG00597.hp1 HG01099.hp1 HG01515.hp2 HG02132.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03927.hp1 HG04199.hp2 NA18952.hp1 NA18990.hp2 NA19007.hp1 NA19066.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(10): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0009 a0002c0002t0028	a0001c0001t0008g0023 a0001c0001t0008g0033 a0001c0001t0009g0020 others(12): Show a0001c0001t0008g0023 a0001c0001t0008g0033 a0001c0001t0009g0020 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0013g0001 a0001c0001t0014g0030 a0001c0001t0016g0034 a0001c0001t0029g0028 a0001c0001t0030g0022 a0001c0001t0032g0032 a0001c0001t0033g0031 a0001c0001t0034g0025 a0001c0003t0009g0024 a0002c0002t0028g0029	15	60	0.2500	21	c.298 others(38): Show c.298+2820_298+2821insTTCATTCATCCAGGCGGGACC		NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	3/4						chr1	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146219800	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	60	0.0167	21	c.-45 others(38): Show c.-45+8908_-45+8909insATATATATATATATATATATA		NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4						chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(14): Show AGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00738.hp2 HG00741.hp1 others(31): Show HG00438.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01358.hp1 HG01433.hp1 HG01934.hp1 HG02040.hp1 HG02273.hp2 HG02523.hp1 HG02647.hp1 HG02698.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18969.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19066.hp1 NA19082.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0022 a0002c0045 a0002c0002 a0002c0022 a0002c0045	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(8): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0019 a0002c0002t0026 a0002c0002t0037 a0002c0002t0046 a0002c0022t0043 a0002c0022t0045 a0002c0045t0003	a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0108 others(30): Show a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0108 a0002c0002t0001g0121 a0002c0002t0001g0129 a0002c0002t0001g0169 a0002c0002t0001g0193 a0002c0002t0001g0206 a0002c0002t0001g0212 a0002c0002t0001g0225 a0002c0002t0004g0003 a0002c0002t0004g0098 a0002c0002t0004g0128 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0224 a0002c0002t0005g0122 a0002c0002t0005g0203 a0002c0002t0005g0207 a0002c0002t0005g0211 a0002c0002t0005g0245 a0002c0002t0005g0246 a0002c0002t0006g0171 a0002c0002t0006g0254 a0002c0002t0019g0111 a0002c0002t0019g0166 a0002c0002t0026g0112 a0002c0002t0037g0140 a0002c0002t0046g0119 a0002c0022t0043g0180 a0002c0022t0045g0179 a0002c0045t0003g0152	34	260	0.1308	21	c.24_ others(26): Show c.24_44dupCGGCGGCGGCGGCGGCGGCGG	p.Gly others(10): Show p.Gly9_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149394918	C C	CCAGAAAT others(14): Show CCAGAAATTCTTCTCCAGGTCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0061 a0001c0001t0016g0061	1	260	0.0039	21	c.135 others(38): Show c.135+4001_135+4002insATTCTTCTCCAGGTCTCAGAA		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460287	A A	ATTAAAAC others(14): Show ATTAAAACTTCTTCCTTTGTTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0112 a0002c0002t0026g0112	1	260	0.0039	21	c.470 others(38): Show c.470-3200_470-3199insAACTTCTTCCTTTGTTGTTAA		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	164	0.0061	21	c.74- others(38): Show c.74-11073_74-11072insATATATATATATATTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp2 NA18962.hp2 others(1): Show HG00673.hp1 HG02056.hp2 NA18962.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0003g0116	4	164	0.0244	21	c.74- others(38): Show c.74-11073_74-11072insATATATATATATTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041065	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0007 a0001c0002t0006g0008 a0001c0002t0006g0007 a0001c0002t0006g0008	2	168	0.0119	21	c.74- others(38): Show c.74-11079_74-11078insATATATATATATATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041069	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0020 a0001c0008t0002g0020	1	168	0.0060	21	c.74- others(38): Show c.74-11083_74-11082insATATATATATATATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOX3_chr6_155390368_155460839	155445969	A A	AATATATA others(14): Show AATATATATATGCTATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18954.hp1 NA18969.hp2 others(3): Show NA18953.hp1 NA18954.hp1 NA18969.hp2 NA18983.hp1 NA18990.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0266 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0266 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0143	6	362	0.0166	21	c.341 others(38): Show c.341-2572_341-2552dupATATATATAGCATATATATAT		NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	4/13						chr6	TogoVar
NOX4_chr11_89319353_89496375	89399472	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	288	0.0035	21	c.107 others(38): Show c.1074+544_1074+545insTATATATATATATATATATAT		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	11/17						chr11	TogoVar
NPAS1_chr19_47014837_47050775	47027333	T T	TCTCTCTG others(14): Show TCTCTCTGCCCCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(132): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18974.hp2 NA18997.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19088.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0025 a0002c0013 a0003c0006 a0004c0014 a0012c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0025t0001 a0002c0013t0001 a0003c0006t0001 a0004c0014t0001 a0012c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(130): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0273 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0377 a0001c0001t0001g0379 a0001c0001t0001g0401 a0001c0001t0001g0411 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0063 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0159 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0211 a0001c0002t0001g0236 a0001c0002t0001g0254 a0001c0002t0001g0268 a0001c0002t0001g0285 a0001c0002t0001g0298 a0001c0002t0001g0312 a0001c0002t0001g0339 a0001c0002t0001g0351 a0001c0002t0001g0378 a0001c0002t0001g0388 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0084 a0001c0003t0001g0295 a0001c0003t0001g0399 a0001c0003t0001g0403 a0001c0003t0001g0406 a0001c0004t0001g0321 a0001c0004t0001g0322 a0001c0004t0001g0323 a0001c0004t0001g0324 a0001c0004t0001g0325 a0001c0004t0001g0331 a0001c0005t0001g0300 a0001c0005t0001g0330 a0001c0025t0001g0362 a0002c0013t0001g0332 a0003c0006t0001g0119 a0003c0006t0001g0164 a0004c0014t0001g0257 a0012c0010t0001g0071	135	418	0.3230	21	c.359 others(38): Show c.359-4944_359-4924dupCTCTCTGCCCCAGGTCCCCCC		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS1_chr19_47014837_47050775	47035191	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02735.hp1 HG00408.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0370 a0001c0002t0001g0410 a0001c0001t0001g0370 a0001c0002t0001g0410	2	418	0.0048	21	c.523 others(36): Show c.523-763_523-743dupAAGAAGAAGAAGAAGAAGAAG		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS3_chr14_32933879_33809173	32936829	C C	CACCTCAG others(14): Show CACCTCAGCACTGAGAGCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	92	0.0109	21	c.-24 others(32): Show c.-2488_-2487insACCTCAGCACTGAGAGCTGCA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					2049		chr14	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02922.hp1 HG01175.hp2 HG02922.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0006 a0002c0004 a0003c0006	a0002c0004t0026 a0003c0006t0013 a0002c0004t0026 a0003c0006t0013	a0002c0004t0026g0023 a0003c0006t0013g0001 a0002c0004t0026g0023 a0003c0006t0013g0001	2	92	0.0217	21	c.-79 others(30): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33004817	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1 HG00140.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0036 a0001c0001t0002 a0001c0001t0009 a0001c0001t0036	a0001c0001t0002g0018 a0001c0001t0009g0061 a0001c0001t0036g0075 a0001c0001t0002g0018 a0001c0001t0009g0061 a0001c0001t0036g0075	3	92	0.0326	21	c.51- others(38): Show c.51-51069_51-51068insTTTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33582970	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0052 a0001c0001t0004 a0001c0001t0052	a0001c0001t0004g0012 a0001c0001t0052g0054 a0001c0001t0004g0012 a0001c0001t0052g0054	2	92	0.0217	21	c.558 others(40): Show c.558+22776_558+22777insTTTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33784745	A A	ATTTATTT others(14): Show ATTTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	92	0.0109	21	c.115 others(40): Show c.1153+6176_1153+6177insATTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33784745	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0023 a0001c0001t0020 a0002c0002t0023	a0001c0001t0020g0008 a0002c0002t0023g0028 a0001c0001t0020g0008 a0002c0002t0023g0028	2	92	0.0217	21	c.115 others(40): Show c.1153+6185_1153+6186insATTTTTTTTTTTTTTTTTTTT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105624	A A	ATGATGGG others(14): Show ATGATGGGCGTGATGATGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00323.hp1 HG00639.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0042 a0002c0003t0042	a0002c0003t0042g0044 a0002c0003t0042g0044	2	355	0.0056	21	c.20 others(30): Show c.205_*206insCCCCCATCATCACGCCCATCA		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				205		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105774	A A	ATGATGGG others(14): Show ATGATGGGCATGATGATGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0122 a0002c0006t0122	a0002c0006t0122g0126 a0002c0006t0122g0126	1	355	0.0028	21	c.55 others(28): Show c.55_*56insCCCCCATCATCATGCCCATCA		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				55		chr20	TogoVar

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