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
SMPD1_chr11_6385474_6399996	6387249	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp1 others(12): Show HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01884.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02818.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0003 a0002c0002t0001 a0001c0001t0001 a0001c0005t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0005t0003g0006 a0002c0002t0001g0001 others(2): Show a0001c0001t0001g0001 a0001c0005t0003g0006 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0023	15	82	0.1829	-18	c.-33 others(29): Show c.-3349_-3332delATATATATATATATATAT		SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding					3224		chr11	TogoVar
SMPD1_chr11_6385474_6399996	6390705	TGCTGGCG others(11): Show TGCTGGCGCTGGCGCTGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02145.hp1 HG02486.hp2 others(2): Show HG01243.hp1 HG02145.hp1 HG02486.hp2 HG02723.hp2 HG03579.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0010 a0005c0008t0004g0029 a0005c0008t0004g0010 a0005c0008t0004g0029	5	48	0.1042	-18	c.126 others(25): Show c.126_143delGCTGGCGCTGGCGCTGGC	p.Leu others(11): Show p.Leu43_Ala48del	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding	1/6	251/2410	126/1896	42/631		INFO_REALIGN_3_PRIME	chr11	TogoVar
SMPD2_chr6_109435724_109448919	109446624	CAAAGCGC others(11): Show CAAAGCGCTGGTTTGACGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	436	0.0023	-18	c.27 others(29): Show c.2720_*2737delAAAGCGCTGGTTTGACGA		SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding					2706		chr6	TogoVar
SMPD3_chr16_68353327_68453508	68380590	CCCTCTGC others(11): Show CCCTCTGCCCTCAGCACCA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0002 a0001c0007t0013g0002	2	206	0.0097	-18	c.-20 others(37): Show c.-207+5990_-207+6007delTGGTGCTGAGGGCAGAGG		SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	2/8						chr16	TogoVar
SMPD3_chr16_68353327_68453508	68445958	CAGTATTT others(11): Show CAGTATTTCTGAGACACCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp1 HG06807.hp1 others(2): Show HG02486.hp1 HG02809.hp1 HG06807.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0003 a0001c0002t0008 a0001c0012t0008 a0001c0002t0003 a0001c0002t0008 a0001c0012t0008	a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0147 others(2): Show a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0147 a0001c0002t0008g0148 a0001c0012t0008g0190	5	206	0.0243	-18	c.-26 others(37): Show c.-269+2377_-269+2394delAGGTGTCTCAGAAATACT		SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	1/8						chr16	TogoVar
SMPDL3A_chr6_122784258_122814720	122808645	CCCCTCCT others(11): Show CCCCTCCTCCCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	427	0.0023	-18	c.104 others(35): Show c.1045-440_1045-423delCTCCCCCCTCCCTCCCTC		SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPX_chrX_21700978_21763116	21728214	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp1 HG01258.hp1 others(15): Show HG00609.hp1 HG01081.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02293.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03516.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0026 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0251	18	35	0.5143	-18	c.14 others(35): Show c.14+9317_*14+9334delGAGAGAGAGAGAGAGAGA		SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4						chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00735.hp2 others(34): Show HG00280.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01361.hp2 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02155.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18963.hp1 NA18967.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0002 a0001c0003 a0001c0007 others(8): Show a0001c0002 a0001c0003 a0001c0007 a0001c0020 a0002c0001 a0002c0010 a0002c0011 a0002c0021 a0003c0009 a0005c0015 a0010c0025	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0001c0020t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0012 a0002c0010t0001 a0002c0010t0002 a0002c0011t0001 a0002c0011t0002 a0002c0021t0001 a0003c0009t0001 a0005c0015t0001 a0010c0025t0002	a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0002g0162 others(32): Show a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0002g0162 a0001c0003t0001g0136 a0001c0003t0001g0342 a0001c0007t0001g0054 a0001c0020t0001g0165 a0002c0001t0001g0019 a0002c0001t0001g0044 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0269 a0002c0001t0001g0274 a0002c0001t0001g0278 a0002c0001t0001g0280 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0002g0276 a0002c0001t0002g0281 a0002c0001t0002g0282 a0002c0001t0012g0044 a0002c0010t0001g0270 a0002c0010t0002g0271 a0002c0010t0002g0272 a0002c0011t0001g0233 a0002c0011t0001g0234 a0002c0011t0002g0277 a0002c0021t0001g0275 a0003c0009t0001g0137 a0003c0009t0001g0138 a0003c0009t0001g0235 a0005c0015t0001g0279 a0010c0025t0002g0273	37	188	0.1968	-18	c.400 others(35): Show c.400-2394_400-2377delTTTTTTTTTTTTTTTTTT		SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54185487	AATAAATA others(11): Show AATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	362	0.0028	-18	c.-19 others(35): Show c.-19-1546_-19-1529delATTTATTTATTTATTTAT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3						chr12	TogoVar
SMUG1_chr12_54175366_54193985	54188295	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03239.hp2 HG02451.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0009 a0001c0001t0002 a0002c0002t0009	a0001c0001t0002g0094 a0002c0002t0009g0095 a0001c0001t0002g0094 a0002c0002t0009g0095	2	299	0.0067	-18	c.-10 others(35): Show c.-103-411_-103-394delATTATTATTATTATTATT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3						chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	120	0.0083	-18	c.56- others(33): Show c.56-1422_56-1405delTATATATATATATATATA		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17						chr7	TogoVar
SMURF1_chr7_99022440_99149108	99146711	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG03654.hp2 HG01346.hp2 HG01496.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0129 a0001c0001t0014g0197 a0001c0001t0014g0198 a0001c0001t0004g0129 a0001c0001t0014g0197 a0001c0001t0014g0198	3	9	0.3333	-18	c.-29 others(29): Show c.-2949_-2932delTTTTTTTTTTTTTTTTTT		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding					2604		chr7	TogoVar
SMURF2_chr17_64537282_64667307	64631265	GGAGAGAG others(11): Show GGAGAGAGGGGGGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	170	0.0059	-18	c.53- others(35): Show c.53-24643_53-24626delTCCCCCCCCCCCTCTCTC		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631281	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp1 HG01346.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0031 a0001c0001t0017 a0001c0001t0031	a0001c0001t0017g0022 a0001c0001t0031g0158 a0001c0001t0017g0022 a0001c0001t0031g0158	2	68	0.0294	-18	c.53- others(35): Show c.53-24659_53-24642delTCTCTCTCTCTCTCTCTC		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631310	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	172	0.0058	-18	c.53- others(35): Show c.53-24688_53-24671delGTCTCTCTCTCTCTCTCT		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SMYD2_chr1_214276159_214342131	214293011	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(75): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18946.hp1 NA18948.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19067.hp1 NA19078.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0007 a0001c0001 a0003c0003 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0008c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(66): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0330 a0003c0003t0001g0108 a0003c0003t0001g0304 a0008c0007t0001g0078	78	87	0.8966	-18	c.173 others(37): Show c.173+11624_173+11641delGTGTGTGTGTGTGTGTGT		SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245813860	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01981.hp2 HG02145.hp2 others(2): Show HG00735.hp2 HG01981.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0009 others(2): Show a0001c0002 a0001c0006 a0001c0009 a0002c0003 a0002c0007	a0001c0002t0001 a0001c0006t0001 a0001c0009t0001 others(2): Show a0001c0002t0001 a0001c0006t0001 a0001c0009t0001 a0002c0003t0001 a0002c0007t0004	a0001c0002t0001g0012 a0001c0006t0001g0014 a0001c0009t0001g0002 others(2): Show a0001c0002t0001g0012 a0001c0006t0001g0014 a0001c0009t0001g0002 a0002c0003t0001g0108 a0002c0007t0004g0111	5	63	0.0794	-18	c.107 others(39): Show c.1076+44618_1076+44635delTATATATATATATATATA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245843538	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	149	0.0067	-18	c.107 others(39): Show c.1076+14940_1076+14957delCACACACACACACACATA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245843540	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0001 a0002c0005t0001 a0002c0004t0001 a0002c0005t0001	a0002c0004t0001g0117 a0002c0005t0001g0115 a0002c0004t0001g0117 a0002c0005t0001g0115	2	6	0.3333	-18	c.107 others(39): Show c.1076+14938_1076+14955delCACACACACACACACACA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245988107	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00621.hp1 others(21): Show HG00408.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02922.hp1 HG03017.hp2 HG03471.hp2 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA19000.hp2 NA19057.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0003 a0002c0003t0001 a0002c0004t0001 a0002c0005t0002 a0003c0015t0002	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0029 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0002t0001g0034 a0001c0002t0002g0041 a0001c0006t0003g0001 a0002c0003t0001g0100 a0002c0004t0001g0144 a0002c0005t0002g0130 a0002c0005t0002g0133 a0003c0015t0002g0094	24	62	0.3871	-18	c.532 others(37): Show c.532-58188_532-58171delGTGTGTGTGTGTGTGTGT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245993577	AAAAGATA others(11): Show AAAAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02300.hp1 HG02615.hp2 others(5): Show HG00738.hp1 HG02300.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG03225.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0093 others(5): Show a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0002t0001g0066 a0001c0002t0001g0086 a0002c0003t0001g0126 a0002c0003t0001g0136 a0002c0007t0001g0137	8	121	0.0661	-18	c.532 others(37): Show c.532-63658_532-63641delATCTATCTATCTATCTTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246048926	GGTTTTTG others(11): Show GGTTTTTGTCCAAACAGGA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	150	0.0067	-18	c.532 others(39): Show c.532-119007_532-118990delTCCTGTTTGGACAAAAAC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246074913	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG00738.hp2 others(23): Show HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01175.hp1 HG01496.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03209.hp2 HG03491.hp2 HG04228.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0092 others(23): Show a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0073 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0037 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0002g0024 a0001c0002t0002g0052 a0001c0002t0002g0083 a0002c0003t0001g0114 a0002c0003t0001g0118 a0002c0004t0001g0128 a0002c0005t0001g0119 a0002c0007t0001g0137	26	59	0.4407	-18	c.532 others(39): Show c.532-144994_532-144977delGTGTGTGTGTGTGTGTGT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246117886	ATTCTTTC others(11): Show ATTCTTTCTGTGACAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00621.hp1 others(34): Show HG00140.hp2 HG00408.hp2 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03491.hp1 HG03579.hp2 HG03831.hp2 HG04228.hp1 NA18747.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0016 a0002c0017 a0003c0015 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001 a0003c0015t0002 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0032 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0002t0001g0034 a0001c0002t0002g0061 a0002c0003t0001g0096 a0002c0003t0001g0109 a0002c0003t0001g0118 a0002c0003t0002g0095 a0002c0003t0002g0122 a0002c0003t0002g0124 a0002c0004t0001g0107 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0143 a0002c0004t0001g0146 a0002c0004t0002g0116 a0002c0005t0001g0119 a0002c0007t0001g0135 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0016t0001g0097 a0002c0017t0001g0139 a0003c0015t0002g0094 a0004c0010t0001g0077	37	150	0.2467	-18	c.532 others(39): Show c.532-187967_532-187950delATTCTGTCACAGAAAGAA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246225321	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01975.hp2 others(15): Show HG00408.hp2 HG00621.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp2 HG03225.hp1 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA18965.hp1 NA18984.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002 a0003c0015t0002	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0002g0038 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0002t0001g0034 a0001c0002t0001g0062 a0001c0006t0001g0060 a0001c0006t0001g0068 a0002c0003t0001g0126 a0002c0003t0002g0125 a0002c0004t0001g0134 a0002c0005t0002g0133 a0003c0015t0002g0094	18	31	0.5806	-18	c.531 others(39): Show c.531+101862_531+101879delTTTTTTTTTTTTTTTTTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246247444	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01109.hp1 others(8): Show HG00140.hp2 HG00733.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0007 others(2): Show a0001c0002 a0002c0003 a0002c0007 a0002c0008 a0002c0017	a0001c0002t0002 a0002c0003t0001 a0002c0007t0001 others(4): Show a0001c0002t0002 a0002c0003t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0001c0002t0002g0061 a0002c0003t0001g0099 a0002c0007t0001g0135 others(8): Show a0001c0002t0002g0061 a0002c0003t0001g0099 a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139	11	104	0.1058	-18	c.531 others(37): Show c.531+79739_531+79756delAGAGAGAGAGAGAGAGAG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246282305	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	8	0.1250	-18	c.531 others(37): Show c.531+44878_531+44895delTTTTTTTTTTTTTTTTTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246339005	CGGTGGAA others(11): Show CGGTGGAAAACTTGTTTAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02886.hp1 others(8): Show HG02258.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(4): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0002c0003t0001g0096 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0002c0003t0001g0096 a0002c0003t0001g0114 a0002c0003t0001g0118 a0002c0003t0002g0095 a0002c0004t0001g0117 a0002c0004t0001g0146 a0002c0004t0002g0116 a0002c0005t0001g0119 a0002c0005t0002g0106	11	150	0.0733	-18	c.229 others(35): Show c.229-3549_229-3532delATAAACAAGTTTTCCACC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11						chr1	TogoVar
SNAI1_chr20_49977980_49993886	49978472	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA18941.hp2 NA18942.hp1 others(4): Show HG00735.hp1 NA18941.hp2 NA18942.hp1 NA18959.hp1 NA18969.hp1 NA18981.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0005g0004 a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0005g0004	7	161	0.0435	-18	c.-45 others(29): Show c.-4587_-4570delATATATATATATATATAT		SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding					4507		chr20	TogoVar
SNAP29_chr22_20854007_20896214	20874349	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	12	0.0833	-18	c.434 others(35): Show c.434+3846_434+3863delACACACACACACACACAC		SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
SNAP29_chr22_20854007_20896214	20888339	ACACACAC others(11): Show ACACACACACACACACACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02055.hp2 HG02486.hp2 others(5): Show HG02015.hp1 HG02055.hp2 HG02486.hp2 NA18747.hp2 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0044 a0001c0001t0009 a0001c0001t0044	a0001c0001t0009g0021 a0001c0001t0009g0178 a0001c0001t0009g0180 others(4): Show a0001c0001t0009g0021 a0001c0001t0009g0178 a0001c0001t0009g0180 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0044g0054	8	380	0.0211	-18	c.50 others(27): Show c.505_*522delACACACACACACACACTC		SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	5/5				505	INFO_REALIGN_3_PRIME	chr22	TogoVar
SNAP91_chr6_83547885_83714101	83610730	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0124 a0001c0017t0001g0124	1	364	0.0027	-18	c.885 others(31): Show c.885-71_885-54delTTATATATATATATATAT		SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	11/29						chr6	TogoVar
SNAP91_chr6_83547885_83714101	83697324	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0330 a0001c0003t0001g0330	1	48	0.0208	-18	c.130 others(37): Show c.130+10456_130+10473delTGTGTGTGTGTGTGTGTG		SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	2/29						chr6	TogoVar
SNAPC3_chr9_15417876_15466626	15449549	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0249 a0001c0002t0016g0249	1	306	0.0033	-18	c.733 others(35): Show c.733-1769_733-1752delATATATATATATATTTTT		SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
SNAPC3_chr9_15417876_15466626	15449551	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 NA18906.hp1 HG01884.hp1 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0250 a0001c0002t0006g0251 a0001c0002t0006g0028 a0001c0002t0006g0250 a0001c0002t0006g0251	3	305	0.0098	-18	c.733 others(35): Show c.733-1767_733-1750delATATATATATATTTTTTT		SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
SNAPC3_chr9_15417876_15466626	15449553	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0252 a0001c0002t0006g0252	1	302	0.0033	-18	c.733 others(35): Show c.733-1765_733-1748delATATATATATTTTTTTTT		SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
SNCAIP_chr5_122307237_122469219	122358157	CTTTGTGT others(11): Show CTTTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	216	0.0046	-18	c.-46 others(37): Show c.-46-32930_-46-32913delTTGTGTGTGTGTGTGTGT		SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SNCAIP_chr5_122307237_122469219	122358159	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	124	0.0081	-18	c.-46 others(37): Show c.-46-32902_-46-32885delGTGTGTGTGTGTGTGTGT		SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SND1_chr7_127647194_128097593	127705570	AAGATGTA others(11): Show AAGATGTAGATGCAGATGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(110): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18948.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0002c0003 a0004c0009 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0007 a0001c0004t0001 a0001c0010t0003 a0002c0003t0001 a0004c0009t0001 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(110): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0140 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0002g0150 a0001c0001t0002g0240 a0001c0001t0003g0259 a0001c0002t0001g0019 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0243 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0256 a0001c0002t0007g0245 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0010t0003g0030 a0002c0003t0001g0063 a0002c0003t0001g0079 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0004c0009t0001g0032 a0005c0011t0001g0223	113	232	0.4871	-18	c.947 others(33): Show c.947+637_947+654delCAGATGTAGATGTAGATG		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18992.hp2 NA19074.hp1 NA18980.hp1 NA18992.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0045 a0001c0002t0001g0217 a0002c0003t0001g0063 a0001c0001t0001g0045 a0001c0002t0001g0217 a0002c0003t0001g0063	3	27	0.1111	-18	c.166 others(39): Show c.1669+23875_1669+23892delGTGTGTGTGTGTGTGTGT		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127953204	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02622.hp1 HG03139.hp2 others(3): Show HG00639.hp2 HG02622.hp1 HG03139.hp2 HG03209.hp2 HG03942.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0004g0071 others(3): Show a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0004g0071 a0001c0001t0004g0089 a0001c0001t0005g0067 a0001c0002t0001g0196	6	260	0.0231	-18	c.166 others(39): Show c.1669+23879_1669+23896delGTGTGTGTGTGTGTATGT		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127994549	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	33	0.0303	-18	c.177 others(37): Show c.1779+3512_1779+3529delAAAAAAAAAAAAAAAAAA		SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	16/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
SNPH_chr20_1261294_1314327	1277867	GTGTGTCT others(11): Show GTGTGTCTGTCTGTGCCGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	348	0.0029	-18	c.-49 others(39): Show c.-493+11117_-493+11134delCTGTGCCGATGTGTCTGT		SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18906.hp2 HG01243.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0205 a0001c0001t0001g0115 a0001c0001t0001g0205	2	13	0.1538	-18	c.732 others(33): Show c.732-430_732-413delATATATATATATATATAT		SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02886.hp2 others(1): Show HG02258.hp1 HG02622.hp1 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0005 a0001c0001t0015g0022 a0001c0001t0007g0005 a0001c0001t0015g0022	4	25	0.1600	-18	c.-15 others(29): Show c.-1570_-1553delAAAAAAAAAAAAAAAAAA		SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding					1381		chr16	TogoVar
SNRNP35_chr12_123453139_123471936	123456736	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0098 a0001c0001t0008g0098	1	34	0.0294	-18	c.-14 others(29): Show c.-1483_-1466delGTGTGTGTGTGTGTGTGT		SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding					1402		chr12	TogoVar
SNRNP70_chr19_49080451_49113604	49111422	AAAACACA others(11): Show AAAACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02717.hp1 others(3): Show HG01891.hp2 HG02559.hp2 HG02717.hp1 HG02895.hp1 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0021 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0021 a0001c0001t0002g0070 a0001c0001t0002g0090	6	285	0.0211	-18	c.29 others(29): Show c.2980_*2997delAAACACACACACACACAC		SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding					2819		chr19	TogoVar
SNRPB2_chr20_16725026_16747564	16725076	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	112	0.0089	-18	c.-51 others(29): Show c.-5123_-5106delTGTGTGTGTGTGTGTGTG		SNRPB2	ENSG00000125870.11	transcript	ENST00000246071.8	protein_coding					4949		chr20	TogoVar
SNRPD1_chr18_21607314_21638520	21635480	TTTCCGAG others(11): Show TTTCCGAGACGGAGTCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02809.hp2 others(2): Show HG02055.hp1 HG02258.hp1 HG02809.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0055 others(1): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0055 a0001c0001t0056	a0001c0001t0002g0002 a0001c0001t0020g0002 a0001c0001t0055g0002 others(1): Show a0001c0001t0002g0002 a0001c0001t0020g0002 a0001c0001t0055g0002 a0001c0001t0056g0161	5	356	0.0140	-18	c.63 others(29): Show c.6343_*6360delTTCCGAGACGGAGTCTCA		SNRPD1	ENSG00000167088.11	transcript	ENST00000300413.10	protein_coding					1961		chr18	TogoVar
SNRPD3_chr22_24550999_24579971	24560428	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG00733.hp2 others(56): Show HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02109.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18941.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp2 NA18965.hp2 NA18969.hp1 NA18972.hp2 NA18984.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19056.hp2 NA19067.hp2 NA19079.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0020 a0001c0002t0021	a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0025 others(35): Show a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0031 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0005g0043 a0001c0002t0005g0211 a0001c0002t0005g0215 a0001c0002t0010g0009 a0001c0002t0020g0052 a0001c0002t0021g0003	59	74	0.7973	-18	c.126 others(35): Show c.126+2649_126+2666delTTTTTTTTTTTTTTTTTT		SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results