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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAA others(24): Show AGAAAGAAAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	179	0.0056	31	c.777 others(48): Show c.777-2236_777-2235insGAAAGAAAGAGAGAGAAAGAAAGAAAGA AAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	55	0.0182	31	c.-22 others(42): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCO2_chr22_50518568_50530598	50521319	C C	CTGGGAGG others(24): Show CTGGGAGGGTGGCTGTGTACCCCCTACTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG02165.hp2 others(18): Show HG01243.hp1 HG01256.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03669.hp2 HG04184.hp1 HG06807.hp1 NA19005.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0002 a0001c0003t0005	a0001c0001t0002g0008 a0001c0003t0002g0006 a0001c0003t0002g0027 others(1): Show a0001c0001t0002g0008 a0001c0003t0002g0006 a0001c0003t0002g0027 a0001c0003t0005g0013	21	389	0.0540	31	c.22 others(42): Show c.2261_*2291dupAAGGAGTAGGGGGTACACAGCCACCCTCCCA	SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding		2248		chr22	TogoVar
SCO2_chr22_50518568_50530598	50521339	C C	CCCCTACT others(24): Show CCCCTACTCCTTTGGGAGGGTGGCTGTGTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(226): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0005 a0006c0009 a0001c0001 a0004c0005 a0006c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0004c0005t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0004g0018 a0001c0001t0006g0019 a0004c0005t0001g0014 a0006c0009t0001g0021	229	408	0.5613	31	c.22 others(42): Show c.2271_*2272insAGTACACAGCCACCCTCCCAAAGGAGTAGGG	SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding		2228		chr22	TogoVar
SCP2_chr1_52922276_53056698	53037964	C C	CACACACA others(24): Show CACACACACACAGATCCAGATCCTGTCTCTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01069.hp2 others(28): Show HG00438.hp1 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01358.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02165.hp2 HG02698.hp2 HG03139.hp1 HG03688.hp2 HG03831.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18955.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18990.hp1 NA19001.hp2 NA19002.hp2 NA19054.hp1 NA19055.hp1 NA19070.hp2 NA19081.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 a0001c0007t0003 a0001c0008t0003	a0001c0001t0001g0251 a0001c0001t0003g0078 a0001c0001t0003g0090 others(28): Show a0001c0001t0001g0251 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0007t0003g0248 a0001c0008t0003g0080	31	278	0.1115	31	c.133 others(48): Show c.1339-942_1339-941insGATCCAGATCCTGTCTCTATACACACAC ACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119518361	G G	GAAATTGA others(24): Show GAAATTGAAAGACACGTGGCCATGAGTGTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02818.hp2 others(8): Show HG01243.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03516.hp2 NA19030.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 a0001c0004t0001 a0003c0006t0005	a0001c0001t0001g0135 a0001c0001t0002g0134 a0001c0001t0002g0273 others(8): Show a0001c0001t0001g0135 a0001c0001t0002g0134 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0004g0087 a0001c0002t0009g0264 a0001c0004t0001g0274 a0003c0006t0005g0263 a0003c0006t0005g0265	11	288	0.0382	31	c.72+ others(46): Show c.72+5793_72+5794insGAGACACTCATGGCCACGTGTCTTTCAATT T	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCT_chr11_621309_632181	627171	G G	GCTGCGGC others(24): Show GCTGCGGCCACGGCCCCGGGCCCCCGCAAGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	410	0.0024	31	c.-29 others(38): Show c.-29_-28insGCCTTGCGGGGGCCCGGGGCCGTGGCCGCAG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding	1/4	29		chr11	TogoVar
SCT_chr11_621309_632181	627958	T T	TGTTCACA others(24): Show TGTTCACAGACGCTCCCGTCCTCCCAAAATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	403	0.0025	31	c.-81 others(40): Show c.-816_-815insGGATTTTGGGAGGACGGGAGCGTCTGTGAAC	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		778		chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0008 a0015c0034t0008	a0015c0034t0008g0349 a0015c0034t0008g0349	1	121	0.0083	31	c.120 others(48): Show c.1208-967_1208-966insAAAAAAAAATATATATATATATATATAT ATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144262794	G G	GGTACACC others(24): Show GGTACACCGCCCCCCCCCACCCCTCACCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	31	c.-38 others(42): Show c.-3820_-3819insGTACACCGCCCCCCCCCACCCCTCACCTGCA	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3658		chr8	TogoVar
SCX_chr8_144261453_144273481	144262805	C C	CCCCCCCC others(24): Show CCCCCCCCACCCCTCACCTGCAGGGTACACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03195.hp1 NA21309.hp1 HG01884.hp2 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	437	0.0069	31	c.-38 others(42): Show c.-3809_-3808insCCCCCCCACCCCTCACCTGCAGGGTACACCG	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3647		chr8	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0272 a0001c0001t0005g0272	1	126	0.0079	31	c.26 others(42): Show c.2667_*2668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDC2_chr8_96488813_96616790	96508900	C C	CAGCCTCA others(24): Show CAGCCTCAAATCATGAAGTATCTAATGGATGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18984.hp1 HG02129.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0200 a0003c0004t0003g0190 a0001c0001t0003g0200 a0003c0004t0003g0190	2	332	0.0060	31	c.60+ others(48): Show c.60+14570_60+14600dupAGCCTCAAATCATGAAGTATCTAATGGA TGG	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	306	0.0033	31	c.61- others(48): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTGTT GTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCBP_chr8_58548261_58587858	58569239	T T	TTGCCATG others(24): Show TTGCCATGTTGGCCATGACAAACATGACAACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(87): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01167.hp2 HG01168.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0004t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0018 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0097 a0001c0001t0011g0057 a0001c0001t0012g0098 a0001c0004t0002g0031 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0058 a0002c0002t0002g0061	90	386	0.2332	31	c.52- others(46): Show c.52-1636_52-1606dupCCATGACAAACATGACAACATGCCATGTTG G	SDCBP	ENSG00000137575.12	transcript	ENST00000260130.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA19000.hp1 HG03486.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0096 a0001c0001t0001g0122 a0001c0001t0002g0096	2	4	0.5000	31	c.-19 others(42): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97151847	T T	TAGGCAGA others(24): Show TAGGCAGATTAGGGGTCCTCAGAGAAAACTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	400	0.0025	31	c.175 others(50): Show c.175-29162_175-29132dupGCAGATTAGGGGTCCTCAGAGAAAAC TTCAG	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02970.hp1 others(1): Show HG02258.hp2 HG02559.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0246 others(1): Show a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0251	4	39	0.1026	31	c.26 others(42): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHA_chr5_213320_262082	260107	C C	CCCGTCAG others(24): Show CCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	264	0.0038	31	c.36 others(42): Show c.3687_*3688insCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3026		chr5	TogoVar
SDHA_chr5_213320_262082	260171	C C	CCCATCAG others(24): Show CCCATCAGAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02129.hp2 HG02683.hp2 others(2): Show HG01192.hp2 HG02129.hp2 HG02683.hp2 NA18981.hp1 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0112 a0001c0002t0001g0166 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0112 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0178	5	252	0.0198	31	c.37 others(42): Show c.3751_*3752insCCATCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3090		chr5	TogoVar
SDHA_chr5_213320_262082	261290	C C	CCCGTCAC others(24): Show CCCGTCACAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	264	0.0038	31	c.48 others(42): Show c.4870_*4871insCCGTCACAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4209		chr5	TogoVar
SDHA_chr5_213320_262082	261816	A A	ACCGTGTG others(24): Show ACCGTGTGGAGCTCCGCCCCCCGTCAGAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	264	0.0038	31	c.53 others(42): Show c.5396_*5397insCCGTGTGGAGCTCCGCCCCCCGTCAGAGCAT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4735		chr5	TogoVar
SDHA_chr5_213320_262082	261831	C C	CCCCCCGA others(24): Show CCCCCCGACAGAGCATTACCGTGTGAGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18978.hp1 NA19091.hp1 NA18977.hp2 NA18978.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0003 a0001c0002t0001g0115 a0001c0002t0001g0119	3	262	0.0115	31	c.54 others(42): Show c.5411_*5412insCCCCCGACAGAGCATTACCGTGTGAGCTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4750		chr5	TogoVar
SDHA_chr5_213320_262082	261831	C C	CCCCCCGT others(24): Show CCCCCCGTCAGAGCATTACCGTGTGAGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	260	0.0038	31	c.54 others(42): Show c.5411_*5412insCCCCCGTCAGAGCATTACCGTGTGAGCTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4750		chr5	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	62	0.0161	31	c.-48 others(42): Show c.-4854_-4853insTATATATATATATATTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19058.hp1 HG04199.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0158 a0001c0001t0001g0086 a0001c0001t0001g0158	2	57	0.0351	31	c.180 others(46): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0023 a0002c0066t0023	a0002c0066t0023g0088 a0002c0066t0023g0088	1	74	0.0135	31	c.848 others(50): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074916	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0029 a0001c0048t0001g0029	1	67	0.0149	31	c.301 others(50): Show c.3011-2081_3011-2080insATATATATATATATTTTTTTTTTTTT TTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217177	C C	CGGAGCAC others(24): Show CGGAGCACCACACCACCCGGAGCACCAGGCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01516.hp2 NA19043.hp2 HG01109.hp1 HG01516.hp2 NA19043.hp2	a0003 a0007 a0034 a0003 a0007 a0034	a0003c0001 a0007c0006 a0034c0052 a0003c0001 a0007c0006 a0034c0052	a0003c0001t0059 a0007c0006t0012 a0034c0052t0032 a0003c0001t0059 a0007c0006t0012 a0034c0052t0032	a0003c0001t0059g0026 a0007c0006t0012g0115 a0034c0052t0032g0107 a0003c0001t0059g0026 a0007c0006t0012g0115 a0034c0052t0032g0107	3	99	0.0303	31	c.554 others(50): Show c.5540-2932_5540-2931insGGAGCACCACACCACCCGGAGCACCA GGCCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	52	0.0192	31	c.559 others(50): Show c.5594-2538_5594-2537insATATATATATATATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp1 HG02486.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0004 a0001c0015t0030 a0001c0008t0004 a0001c0015t0030	a0001c0008t0004g0051 a0001c0015t0030g0131 a0001c0008t0004g0051 a0001c0015t0030g0131	2	53	0.0377	31	c.559 others(50): Show c.5594-2538_5594-2537insAAATATATATATATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0036 a0001c0010t0001g0036	1	52	0.0192	31	c.559 others(50): Show c.5594-2538_5594-2537insAAAAATATATATATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04228.hp2 NA18948.hp1 others(1): Show HG00438.hp2 HG04228.hp2 NA18948.hp1 NA21309.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0027	a0001c0010 a0003c0022 a0011c0108 others(1): Show a0001c0010 a0003c0022 a0011c0108 a0027c0114	a0001c0010t0006 a0003c0022t0004 a0011c0108t0040 others(1): Show a0001c0010t0006 a0003c0022t0004 a0011c0108t0040 a0027c0114t0094	a0001c0010t0006g0054 a0003c0022t0004g0087 a0011c0108t0040g0195 others(1): Show a0001c0010t0006g0054 a0003c0022t0004g0087 a0011c0108t0040g0195 a0027c0114t0094g0179	4	55	0.0727	31	c.559 others(50): Show c.5594-2538_5594-2537insAAAAAAAAAAAAATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0093 a0001c0046t0093	a0001c0046t0093g0045 a0001c0046t0093g0045	1	52	0.0192	31	c.559 others(50): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAAATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03225.hp2 HG00323.hp2 HG03225.hp2	a0001 a0014 a0001 a0014	a0001c0005 a0014c0086 a0001c0005 a0014c0086	a0001c0005t0001 a0014c0086t0012 a0001c0005t0001 a0014c0086t0012	a0001c0005t0001g0053 a0014c0086t0012g0204 a0001c0005t0001g0053 a0014c0086t0012g0204	2	191	0.0105	31	c.559 others(50): Show c.5594-2539_5594-2538insTATATATATATATATATATATATATA TATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454881	T T	TATATATT others(24): Show TATATATTATATAATAGATATATAATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03195.hp1 NA18906.hp1 HG01884.hp1 HG03195.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0143 a0004c0004t0001g0008 a0004c0004t0001g0143	3	452	0.0066	31	c.51 others(42): Show c.5139_*5140insTAATATATTATATATCTATTATATAATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4347		chr22	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	28	0.0357	31	c.723 others(46): Show c.723+550_723+580dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC24D_chr4_118717823_118841126	118810780	A A	AGGAAAGG others(24): Show AGGAAAGGTCCAAAGACTAAGACTAAGTCTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	298	0.0034	31	c.801 others(48): Show c.801+4217_801+4247dupAAAGACTTAGTCTTAGTCTTTGGACCTT TCC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(24): Show CATATATATATATATATTCCATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	39	0.0256	31	c.115 others(48): Show c.115-2706_115-2705insATATATATATATGGAATATATATATATA TAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(24): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18952.hp2 NA18961.hp2 others(4): Show HG02630.hp2 NA18952.hp2 NA18961.hp2 NA18970.hp2 NA18997.hp2 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0004 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0166 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0062 a0001c0001t0002g0067	7	17	0.4118	31	c.115 others(48): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	8	0.1250	31	c.58+ others(46): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELE_chr1_169717640_169739079	169737458	T T	TTTATATA others(24): Show TTTATATATAAATATAGATATTTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02132.hp1 HG01255.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	436	0.0046	31	c.-35 others(42): Show c.-3567_-3537dupTATATATAAAAATATCTATATTTATATATAA	SELE	ENSG00000007908.16	transcript	ENST00000333360.12	protein_coding		3380		chr1	TogoVar
SEMA3F_chr3_50150324_50194075	50192867	T T	TCCCCTGT others(24): Show TCCCCTGTCCCAGAACAGTTGAGGTCGTTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0140 a0001c0002t0003g0140	1	342	0.0029	31	c.47 others(42): Show c.4752_*4753insCCCCTGTCCCAGAACAGTTGAGGTCGTTGAG	SEMA3F	ENSG00000001617.12	transcript	ENST00000002829.8	protein_coding		3793		chr3	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(24): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	219	0.0046	31	c.-24 others(50): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	289	0.0035	31	c.553 others(48): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	165	0.0061	31	c.43 others(42): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SEPTIN2_chr2_241310925_241359027	241338767	T T	TATATATA others(24): Show TATATATATTATATTTATATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0298 a0001c0001t0016g0298	1	404	0.0025	31	c.594 others(47): Show c.594+981_594+1011dupTATATTATATTTATATTATTTATATATAA TA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TATATTAT others(24): Show TATATTATATTTATATTATTTATATATAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(118): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0006g0189 a0001c0001t0007g0005 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0190 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0278 a0001c0001t0012g0013 a0001c0001t0012g0030 a0001c0001t0015g0021 a0001c0001t0015g0075 a0001c0001t0015g0076 a0001c0001t0025g0028 a0001c0001t0029g0135 a0001c0001t0031g0120	121	385	0.3143	31	c.594 others(48): Show c.594+1012_594+1042dupCATATTATATTTATATTATTTATATATA ATA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338802	C C	CATATTAT others(24): Show CATATTATATTTATATTATTTATATATAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18939.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18987.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19054.hp2 NA19060.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0002t0008 a0001c0004t0002 a0002c0003t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(73): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0081 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0253 a0001c0001t0006g0292 a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0006g0295 a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0008g0053 a0001c0001t0018g0297 a0001c0001t0018g0299 a0001c0002t0008g0149 a0001c0004t0002g0257 a0002c0003t0002g0059	88	351	0.2507	31	c.594 others(48): Show c.594+1017_594+1047dupTATATTTATATTATTTATATATAATATA TAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338830	A A	ATATATAT others(24): Show ATATATATTATATTTATATTATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	406	0.0025	31	c.594 others(48): Show c.594+1047_594+1048insTATATTTATATTATTTATATATATTATA TAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results