Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MYO5B_chr18_49817789_50200147	50122633	GGGAGAGA others(24): Show GGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(88): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA18979.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19060.hp1 NA19068.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0012 a0013 a0016 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0030	a0001c0001 a0001c0002 a0001c0034 others(33): Show a0001c0001 a0001c0002 a0001c0034 a0001c0037 a0001c0063 a0002c0003 a0002c0005 a0002c0009 a0002c0010 a0002c0023 a0002c0028 a0002c0035 a0002c0054 a0003c0004 a0003c0006 a0003c0012 a0003c0045 a0003c0053 a0004c0007 a0004c0016 a0004c0047 a0004c0058 a0007c0015 a0010c0019 a0011c0042 a0012c0038 a0013c0060 a0016c0040 a0017c0066 a0018c0062 a0019c0061 a0020c0039 a0022c0050 a0025c0027 a0026c0065 a0030c0067	a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 others(44): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0019 a0001c0034t0001 a0001c0037t0001 a0001c0063t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0033 a0002c0003t0035 a0002c0005t0005 a0002c0005t0009 a0002c0005t0034 a0002c0009t0002 a0002c0010t0012 a0002c0023t0003 a0002c0028t0005 a0002c0035t0011 a0002c0054t0003 a0003c0004t0003 a0003c0006t0003 a0003c0012t0003 a0003c0012t0027 a0003c0045t0003 a0003c0053t0003 a0004c0007t0004 a0004c0007t0013 a0004c0016t0004 a0004c0047t0013 a0004c0058t0005 a0007c0015t0002 a0010c0019t0002 a0011c0042t0001 a0012c0038t0001 a0013c0060t0004 a0016c0040t0009 a0017c0066t0003 a0018c0062t0029 a0019c0061t0004 a0020c0039t0004 a0022c0050t0011 a0025c0027t0005 a0026c0065t0004 a0030c0067t0004	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0039 others(88): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0026g0017 a0001c0002t0001g0025 a0001c0002t0001g0123 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0204 a0001c0002t0002g0048 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0116 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0155 a0001c0002t0002g0211 a0001c0002t0007g0134 a0001c0002t0019g0137 a0001c0034t0001g0075 a0001c0037t0001g0119 a0001c0063t0001g0129 a0002c0003t0002g0010 a0002c0003t0002g0133 a0002c0003t0002g0147 a0002c0003t0008g0073 a0002c0003t0033g0235 a0002c0003t0035g0237 a0002c0005t0005g0111 a0002c0005t0005g0117 a0002c0005t0005g0124 a0002c0005t0009g0092 a0002c0005t0009g0097 a0002c0005t0009g0098 a0002c0005t0009g0099 a0002c0005t0034g0236 a0002c0009t0002g0114 a0002c0010t0012g0125 a0002c0010t0012g0140 a0002c0023t0003g0100 a0002c0028t0005g0145 a0002c0035t0011g0227 a0002c0054t0003g0138 a0003c0004t0003g0009 a0003c0004t0003g0045 a0003c0004t0003g0052 a0003c0004t0003g0053 a0003c0004t0003g0086 a0003c0004t0003g0093 a0003c0004t0003g0110 a0003c0004t0003g0112 a0003c0004t0003g0149 a0003c0004t0003g0152 a0003c0006t0003g0051 a0003c0006t0003g0056 a0003c0012t0003g0096 a0003c0012t0027g0105 a0003c0045t0003g0050 a0003c0053t0003g0154 a0004c0007t0004g0031 a0004c0007t0004g0094 a0004c0007t0004g0200 a0004c0007t0013g0150 a0004c0016t0004g0047 a0004c0047t0013g0057 a0004c0058t0005g0055 a0007c0015t0002g0130 a0007c0015t0002g0198 a0010c0019t0002g0120 a0011c0042t0001g0199 a0012c0038t0001g0032 a0013c0060t0004g0026 a0016c0040t0009g0139 a0017c0066t0003g0054 a0018c0062t0029g0085 a0019c0061t0004g0061 a0020c0039t0004g0141 a0022c0050t0011g0228 a0025c0027t0005g0042 a0026c0065t0004g0008 a0030c0067t0004g0212	91	202	0.4505	-31	c.28- others(48): Show c.28-67286_28-67256delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCC		MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39						chr18	TogoVar
MYOM2_chr8_2040046_2150456	2041508	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0037 a0037	a0037c0125 a0037c0125	a0037c0125t0001 a0037c0125t0001	a0037c0125t0001g0356 a0037c0125t0001g0356	1	402	0.0025	-31	c.-36 others(42): Show c.-3672_-3642delAAAATATATATATATATATATATATATATAT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding					3537		chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085610	CTGCGTGG others(24): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01346.hp2 others(5): Show HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01993.hp1 HG02273.hp2 HG02293.hp2 HG02818.hp2 HG03491.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0001c0118 a0002c0017 others(2): Show a0001c0002 a0001c0118 a0002c0017 a0004c0153 a0006c0013	a0001c0002t0001 a0001c0002t0002 a0001c0118t0002 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0118t0002 a0002c0017t0001 a0004c0153t0001 a0006c0013t0001	a0001c0002t0001g0013 a0001c0002t0001g0325 a0001c0002t0002g0001 others(4): Show a0001c0002t0001g0013 a0001c0002t0001g0325 a0001c0002t0002g0001 a0001c0118t0002g0322 a0002c0017t0001g0235 a0004c0153t0001g0126 a0006c0013t0001g0158	8	364	0.0220	-31	c.164 others(48): Show c.1644+223_1644+253delCGTGGCCCCCCACAGTCGTGATCTCTTT GTG		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085689	CTGCGTGG others(24): Show CTGCGTGGCCCCCCACTGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02895.hp1 HG01496.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0006 a0001c0022 a0002c0006	a0001c0022t0001 a0002c0006t0001 a0001c0022t0001 a0002c0006t0001	a0001c0022t0001g0393 a0002c0006t0001g0117 a0001c0022t0001g0393 a0002c0006t0001g0117	2	373	0.0054	-31	c.164 others(48): Show c.1644+302_1644+332delCGTGGCCCCCCACTGTCGTGATCTCTTT GTG		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085955	CTTTGTGG others(24): Show CTTTGTGGCCCCCCACTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0002 a0022 a0002 a0022	a0002c0098 a0022c0027 a0002c0098 a0022c0027	a0002c0098t0001 a0022c0027t0001 a0002c0098t0001 a0022c0027t0001	a0002c0098t0001g0210 a0022c0027t0001g0091 a0002c0098t0001g0210 a0022c0027t0001g0091	2	298	0.0067	-31	c.164 others(48): Show c.1644+567_1644+597delTTGTGGCCCCCCACTGTTGTGATCTCTG CGT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086296	CCGCGTGG others(24): Show CCGCGTGGCCCCCCACAGTCGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0066 a0066	a0066c0130 a0066c0130	a0066c0130t0001 a0066c0130t0001	a0066c0130t0001g0358 a0066c0130t0001g0358	1	402	0.0025	-31	c.164 others(48): Show c.1644+907_1644+937delCGCGTGGCCCCCCACAGTCGTGATCTCT GCG		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086377	CTGCGTGG others(24): Show CTGCGTGGCCTCCCACTGTTGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0027 a0002c0006t0001g0027	1	401	0.0025	-31	c.164 others(49): Show c.1644+990_1644+1020delCGTGGCCTCCCACTGTTGTGATCTCTG CGTG		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NAA16_chr13_41306267_41382030	41372284	TTAGCATT others(24): Show TTAGCATTTGAAATATATTTTAGAAAAGGTAA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp2 HG03688.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0026 a0009c0008t0026	a0009c0008t0026g0078 a0009c0008t0026g0078	1	354	0.0028	-31	c.203 others(42): Show c.2032_2056+6delGCATTTGAAATATATTTTAGAAAAGGTAATA	p.Ala others(5): Show p.Ala678fs	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	16/20	2294/4285	2032/2595	678/864		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAAA_chr4_75908660_75946013	75942304	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0208 a0001c0001t0006g0208	1	115	0.0087	-31	c.-13 others(42): Show c.-1386_-1356delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NAAA	ENSG00000138744.16	transcript	ENST00000286733.9	protein_coding					1292		chr4	TogoVar
NAALADL2_chr3_174854334_175815548	174885876	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02109.hp2 HG02809.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0007c0012 a0003c0004 a0007c0012	a0003c0004t0003 a0007c0012t0026 a0003c0004t0003 a0007c0012t0026	a0003c0004t0003g0028 a0007c0012t0026g0024 a0003c0004t0003g0028 a0007c0012t0026g0024	2	4	0.5000	-31	c.43+ others(48): Show c.43+26452_43+26482delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174894594	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp2 HG01255.hp1 HG01978.hp2	a0005 a0006 a0005 a0006	a0005c0011 a0006c0010 a0005c0011 a0006c0010	a0005c0011t0001 a0006c0010t0010 a0005c0011t0001 a0006c0010t0010	a0005c0011t0001g0053 a0006c0010t0010g0054 a0005c0011t0001g0053 a0006c0010t0010g0054	2	9	0.2222	-31	c.43+ others(48): Show c.43+35163_43+35193delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175199846	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0064 a0002c0007t0001g0064	1	64	0.0156	-31	c.546 others(50): Show c.546-34083_546-34053delATATATATATATATATATTTTTTTTT TTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NANS_chr9_98051732_98088077	98069250	CTCAGCAA others(24): Show CTCAGCAATCAAAAGGAATGAACTATTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00639.hp1 others(10): Show HG00438.hp1 HG00609.hp1 HG00639.hp1 HG01256.hp1 HG01258.hp2 HG03017.hp1 NA18941.hp2 NA18960.hp2 NA18965.hp1 NA18991.hp1 NA18998.hp1 NA19054.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0030 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0177 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0225	13	316	0.0411	-31	c.349 others(48): Show c.349-7666_349-7636delCAGCAATCAAAAGGAATGAACTATTTTT CTT		NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
NAV3_chr12_77825894_78218010	77913090	GGTGAAAA others(24): Show GGTGAAAAAATTCTTAATGTAGCATACTTGGC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	184	0.0054	-31	c.244 others(50): Show c.244-27228_244-27198delGTGAAAAAATTCTTAATGTAGCATAC TTGGC		NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39						chr12	TogoVar
NBPF10_chr1_146059711_146149804	146076274	CACACACA others(24): Show CACACACACACACACACACACACACACACAGA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0076 a0076	a0076c0044 a0076c0044	a0076c0044t0001 a0076c0044t0001	a0076c0044t0001g0022 a0076c0044t0001g0022	1	280	0.0036	-31	c.962 others(48): Show c.9624-264_9624-234delTCTGTGTGTGTGTGTGTGTGTGTGTGTG TGT		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	77/89						chr1	TogoVar
NCAPG2_chr7_158626169_158709804	158668012	TCCTTACC others(24): Show TCCTTACCCACTACTGGGTCCCTCCGCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0353 a0001c0001t0001g0354	2	233	0.0086	-31	c.148 others(50): Show c.1480-3293_1480-3263delGGAGGGCGGAGGGACCCAGTAGTGGG TAAGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCLN_chr19_3180930_3214575	3191008	TGTGGCGG others(24): Show TGTGGCGGGCAGCAGGGAGATCGTCGTGGTGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG03041.hp1 HG02486.hp2 HG02970.hp1 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0019 a0004c0013 a0001c0019 a0004c0013	a0001c0019t0014 a0004c0013t0002 a0001c0019t0014 a0004c0013t0002	a0001c0019t0014g0244 a0004c0013t0002g0151 a0004c0013t0002g0152 a0001c0019t0014g0244 a0004c0013t0002g0151 a0004c0013t0002g0152	3	408	0.0074	-31	c.185 others(48): Show c.185-1436_185-1406delTGGTGCGTGGCGGGCAGCAGGGAGATCG TCG		NCLN	ENSG00000125912.11	transcript	ENST00000246117.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NCLN_chr19_3180930_3214575	3191039	CGTGGCGG others(24): Show CGTGGCGGGCAGCAGGGAGATCGTCGCGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0210 a0002c0007t0002g0210	1	408	0.0025	-31	c.185 others(48): Show c.185-1400_185-1370delTGTGGCGGGCAGCAGGGAGATCGTCGCG GTG		NCLN	ENSG00000125912.11	transcript	ENST00000246117.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NCMAP_chr1_24551087_24614328	24604606	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	364	0.0027	-31	c.168 others(46): Show c.168-999_168-969delTATATATATATATATATATATATATATATA T		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3						chr1	TogoVar
NCOR1_chr17_16024157_16220534	16092664	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp2 HG02145.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0030 a0001c0001t0009g0003 a0001c0001t0001g0030 a0001c0001t0009g0003	2	280	0.0071	-31	c.282 others(48): Show c.2821-637_2821-607delTATATATATATATATATATATATATATA TAT		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45						chr17	TogoVar
NCOR1_chr17_16024157_16220534	16156434	TCGAAAAA others(24): Show TCGAAAAAAAAAAGAAAAGAAAAGAAGGAAAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 HG02056.hp1 others(7): Show HG00408.hp1 HG02027.hp1 HG02056.hp1 HG02145.hp1 HG02523.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 NA18949.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015	a0001c0001t0002g0183 a0001c0001t0002g0198 a0001c0001t0002g0199 others(7): Show a0001c0001t0002g0183 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0236 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0015g0004	10	280	0.0357	-31	c.732 others(48): Show c.732+2295_732+2325delCTTTCCTTCTTTTCTTTTCTTTTTTTTT TCG		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	6/45						chr17	TogoVar
NCS1_chr9_130167404_130242303	130176155	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01074.hp1 others(21): Show HG00544.hp2 HG00741.hp1 HG01074.hp1 HG01175.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG03669.hp1 HG04199.hp1 NA18747.hp2 NA18959.hp2 NA18969.hp1 NA18971.hp2 NA18981.hp1 NA18990.hp2 NA19010.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0042 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0042 a0001c0001t0051 a0001c0001t0101 a0001c0001t0106 a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0017 a0001c0002t0023 a0001c0002t0097 a0001c0002t0116 a0001c0002t0127 a0001c0002t0133 a0001c0002t0172 a0001c0002t0173 a0001c0002t0174 a0001c0002t0175	a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0059 others(21): Show a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0004g0045 a0001c0001t0042g0052 a0001c0001t0051g0049 a0001c0001t0101g0056 a0001c0001t0106g0057 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0008g0042 a0001c0002t0011g0129 a0001c0002t0017g0074 a0001c0002t0023g0055 a0001c0002t0023g0060 a0001c0002t0097g0040 a0001c0002t0116g0061 a0001c0002t0127g0127 a0001c0002t0133g0047 a0001c0002t0172g0050 a0001c0002t0173g0051 a0001c0002t0174g0058 a0001c0002t0175g0044	24	346	0.0694	-31	c.64+ others(46): Show c.64+3431_64+3461delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130176163	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02280.hp2 others(10): Show HG01109.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0001t0060 a0001c0001t0074 others(9): Show a0001c0001t0059 a0001c0001t0060 a0001c0001t0074 a0001c0001t0076 a0001c0001t0108 a0001c0001t0115 a0001c0001t0162 a0001c0002t0018 a0001c0002t0021 a0001c0002t0056 a0001c0002t0161 a0001c0002t0171	a0001c0001t0059g0306 a0001c0001t0060g0304 a0001c0001t0074g0307 others(10): Show a0001c0001t0059g0306 a0001c0001t0060g0304 a0001c0001t0074g0307 a0001c0001t0076g0310 a0001c0001t0108g0305 a0001c0001t0115g0314 a0001c0001t0162g0303 a0001c0002t0018g0293 a0001c0002t0018g0297 a0001c0002t0021g0313 a0001c0002t0056g0311 a0001c0002t0161g0309 a0001c0002t0171g0302	13	346	0.0376	-31	c.64+ others(46): Show c.64+3439_64+3469delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFAF2_chr5_60940205_61158026	61045108	ATTTAATA others(24): Show ATTTAATAAAATAAAATAAAGTTTTATTAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01192.hp1 others(27): Show HG00280.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02572.hp2 HG02630.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA19030.hp2 NA19082.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0140 a0001c0001t0001g0141 others(26): Show a0001c0001t0001g0016 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0263 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0180 a0001c0002t0001g0197 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0004t0001g0195 a0001c0004t0001g0196	30	188	0.1596	-31	c.128 others(50): Show c.128-27873_128-27843delGTTTTATTAAATTTTAATAAAATAAA ATAAA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF2_chr5_60940205_61158026	61045252	GTTTTATT others(24): Show GTTTTATTAAATTTTAATAAAATAAAATAAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02896.hp2 others(1): Show HG02145.hp2 HG02809.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0256 a0001c0002t0001g0199 a0001c0002t0001g0217 others(1): Show a0001c0001t0001g0256 a0001c0002t0001g0199 a0001c0002t0001g0217 a0001c0002t0001g0232	4	32	0.1250	-31	c.128 others(50): Show c.128-27811_128-27781delATTTTATTAAATTTTAATAAAATAAA ATAAA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFB11_chrX_47137216_47149702	47148585	TATGTATC others(24): Show TATGTATCCTTCTATGATACATATCATAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(39): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18964.hp2 NA18971.hp1 NA18980.hp2 NA19012.hp1 NA19075.hp1 NA19084.hp1 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043	42	135	0.3111	-31	c.-39 others(42): Show c.-3937_-3907delTTTCTATGATATGTATCATAGAAGGATACAT		NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding					3884		chrX	TogoVar
NEB_chr2_151480339_151739476	151576504	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA20129.hp1 HG02040.hp2 NA20129.hp1	a0007 a0127 a0007 a0127	a0007c0138 a0127c0099 a0007c0138 a0127c0099	a0007c0138t0001 a0127c0099t0001 a0007c0138t0001 a0127c0099t0001	a0007c0138t0001g0091 a0127c0099t0001g0098 a0007c0138t0001g0091 a0127c0099t0001g0098	2	172	0.0116	-31	c.167 others(50): Show c.16705-181_16705-151delAAAAAAAAAAAAAAAAAAATATATAT ATATA		NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	105/181						chr2	TogoVar
NECTIN1_chr11_119655992_119734200	119731216	TAATTTAA others(24): Show TAATTTAATTTAATTTTATTTTATTTTATTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(60): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp2 HG03654.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp2 NA18968.hp2 NA18970.hp2 NA18980.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19080.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0002t0002 a0002c0002t0006 a0004c0005t0001 a0006c0010t0002 a0007c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0289 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0175 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0249 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0003g0168 a0001c0001t0003g0254 a0001c0001t0004g0255 a0001c0001t0004g0261 a0001c0001t0008g0221 a0001c0001t0010g0215 a0001c0001t0012g0299 a0001c0001t0012g0300 a0001c0001t0012g0301 a0001c0001t0016g0246 a0001c0001t0033g0279 a0001c0001t0035g0206 a0001c0001t0036g0240 a0001c0001t0037g0235 a0002c0002t0002g0024 a0002c0002t0002g0244 a0002c0002t0006g0282 a0002c0002t0006g0283 a0004c0005t0001g0204 a0004c0005t0001g0216 a0006c0010t0002g0296 a0007c0009t0001g0277	63	332	0.1898	-31	c.-26 others(42): Show c.-2694_-2664delGAAATAAAATAAAATAAAATTAAATTAAATT		NECTIN1	ENSG00000110400.11	transcript	ENST00000264025.8	protein_coding					2017		chr11	TogoVar
NEDD4L_chr18_58039226_58406539	58177085	TCCTGAGC others(24): Show TCCTGAGCCCCTGGCCCCTTCCTGCACCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0101 a0001c0001t0011g0101	1	116	0.0086	-31	c.122 others(50): Show c.122+11233_122+11263delCCTGGCCCCTTCCTGCACCTCTCCCT GAGCC		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241805372	CCCCTCAG others(24): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	300	0.0033	-31	c.-39 others(42): Show c.-3905_-3875delCCCTCAGCCCAGGGACCTCCGCAGGCCACCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3820		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805525	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02300.hp2 HG03098.hp2 HG01255.hp2 HG02300.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0003 a0001c0004t0001 a0001c0013t0001 a0001c0001t0003 a0001c0004t0001 a0001c0013t0001	a0001c0001t0003g0044 a0001c0004t0001g0158 a0001c0013t0001g0063 a0001c0001t0003g0044 a0001c0004t0001g0158 a0001c0013t0001g0063	3	265	0.0113	-31	c.-37 others(42): Show c.-3752_-3722delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3667		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0069 a0001c0004t0001g0069	1	297	0.0034	-31	c.-37 others(42): Show c.-3717_-3687delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3632		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805673	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01192.hp1 HG01256.hp2 others(3): Show HG00323.hp2 HG01192.hp1 HG01256.hp2 HG02717.hp1 HG03098.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0013t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0002t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0002t0001g0004 a0001c0004t0001g0054 a0001c0013t0001g0063 a0002c0003t0002g0036	6	300	0.0200	-31	c.-36 others(42): Show c.-3604_-3574delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3519		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805751	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	293	0.0034	-31	c.-35 others(42): Show c.-3526_-3496delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3441		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805786	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00323.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0131 a0002c0003t0002g0036 a0002c0003t0002g0131	2	307	0.0065	-31	c.-34 others(42): Show c.-3491_-3461delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3406		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806123	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0131 a0002c0003t0002g0131	1	296	0.0034	-31	c.-31 others(42): Show c.-3154_-3124delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3069		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806158	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0035	-31	c.-31 others(42): Show c.-3119_-3089delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3034		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806193	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG00738.hp2 others(5): Show HG00673.hp1 HG00733.hp2 HG00738.hp2 HG02055.hp1 HG02109.hp1 NA19066.hp2 NA19068.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0040 a0001c0001t0003g0184 a0001c0004t0001g0012 others(5): Show a0001c0001t0001g0040 a0001c0001t0003g0184 a0001c0004t0001g0012 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0115 a0002c0003t0002g0170 a0002c0003t0002g0173	8	317	0.0252	-31	c.-30 others(42): Show c.-3084_-3054delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2999		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806231	CCCCTCAG others(24): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	309	0.0032	-31	c.-30 others(42): Show c.-3046_-3016delCCCTCAGCCCAGGAACCTCCGCAGGCCACCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2961		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806501	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02622.hp2 HG02809.hp1 others(1): Show HG01346.hp1 HG02622.hp2 HG02809.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0008 a0001c0004t0001 a0001c0001t0001 a0001c0002t0008 a0001c0004t0001	a0001c0001t0001g0009 a0001c0002t0008g0025 a0001c0004t0001g0069 others(1): Show a0001c0001t0001g0009 a0001c0002t0008g0025 a0001c0004t0001g0069 a0001c0004t0001g0111	4	289	0.0138	-31	c.-27 others(42): Show c.-2776_-2746delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2691		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806539	CCCCTCAG others(24): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG02027.hp2 others(4): Show HG00639.hp2 HG01192.hp1 HG02027.hp2 HG03834.hp1 NA18946.hp2 NA18947.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0001c0001t0001 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0002t0001g0027 a0001c0002t0001g0074 a0002c0003t0002g0131 a0002c0003t0002g0191	7	298	0.0235	-31	c.-27 others(42): Show c.-2738_-2708delCCCTCAGCCCAGGAACCTCCGCAGGCCACCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2653		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806614	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	289	0.0035	-31	c.-26 others(42): Show c.-2663_-2633delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2578		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806649	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG03130.hp2 HG03834.hp1 others(3): Show HG00733.hp2 HG03130.hp2 HG03834.hp1 HG06807.hp2 NA19063.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0003g0092 a0001c0002t0001g0074 others(3): Show a0001c0001t0001g0003 a0001c0001t0003g0092 a0001c0002t0001g0074 a0001c0004t0001g0015 a0002c0003t0002g0046 a0002c0003t0002g0173	6	315	0.0190	-31	c.-26 others(42): Show c.-2628_-2598delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2543		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806727	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 NA19005.hp2 NA19011.hp2 HG00733.hp2 NA19005.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0062 a0002c0003t0002g0148 a0002c0003t0002g0173 a0001c0004t0001g0062 a0002c0003t0002g0148 a0002c0003t0002g0173	3	301	0.0100	-31	c.-25 others(42): Show c.-2550_-2520delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2465		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806762	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp2 NA18522.hp1 others(2): Show HG02055.hp1 HG02622.hp2 NA18522.hp1 NA18952.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0008 a0001c0004t0001	a0001c0001t0001g0017 a0001c0001t0003g0094 a0001c0002t0008g0025 others(2): Show a0001c0001t0001g0017 a0001c0001t0003g0094 a0001c0002t0008g0025 a0001c0004t0001g0069 a0001c0004t0001g0107	5	315	0.0159	-31	c.-25 others(42): Show c.-2515_-2485delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2430		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806992	TCCCCCCT others(24): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00735.hp2 others(26): Show HG00280.hp1 HG00323.hp2 HG00735.hp2 HG01106.hp1 HG01255.hp2 HG01884.hp1 HG01975.hp1 HG02040.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG03486.hp1 HG03516.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18995.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19088.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0001c0016t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0030 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0003g0044 a0001c0001t0003g0095 a0001c0001t0003g0187 a0001c0001t0004g0123 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0053 a0001c0002t0001g0117 a0001c0004t0001g0019 a0001c0004t0001g0049 a0001c0004t0001g0062 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0111 a0001c0004t0010g0102 a0001c0016t0001g0070 a0002c0003t0002g0036 a0002c0003t0002g0140 a0002c0003t0002g0147 a0002c0003t0002g0148	29	307	0.0945	-31	c.-22 others(42): Show c.-2285_-2255delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2200		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808049	CTCTCCCC others(24): Show CTCTCCCCTCTTAGCCCAGGGACCTCGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA19080.hp2 NA18971.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0020 a0001c0004t0001g0012 a0001c0001t0001g0020 a0001c0004t0001g0012	2	318	0.0063	-31	c.-12 others(42): Show c.-1228_-1198delTCTCCCCTCTTAGCCCAGGGACCTCGGCAGG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1143		chr2	TogoVar
NFASC_chr1_204823652_205027822	204877028	AATATATA others(24): Show AATATATATTTATATATATATAATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0049 a0003c0049	a0003c0049t0003 a0003c0049t0003	a0003c0049t0003g0181 a0003c0049t0003g0181	1	213	0.0047	-31	c.-19 others(52): Show c.-199-43603_-199-43573delATATATATTTATATATATATAATA TATTTAT		NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29						chr1	TogoVar
NFASC_chr1_204865862_205027822	204877028	AATATATA others(24): Show AATATATATTTATATATATATAATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0004 a0001c0027t0004	a0001c0027t0004g0011 a0001c0027t0004g0011	1	253	0.0040	-31	c.-91 others(48): Show c.-91+5959_-91+5989delATATATATTTATATATATATAATATATT TAT		NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27						chr1	TogoVar
NFATC1_chr18_79390930_79534323	79395583	CCCCCTCC others(24): Show CCCCCTCCCCGTGCGCCCCCCCTCCCCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	318	0.0031	-31	c.-64 others(40): Show c.-641_-611delCCCCTCCCCGTGCGCCCCCCCTCCCCGTGCG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					346		chr18	TogoVar

Search by Variant

Search

Search Results