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
RCHY1_chr4_75474033_75519403	75487811	A A	AATATATA others(88): Show AATATATATATTCATATATATATTCATAATATATATATTCATATATATAT TCATAATATATATATTCATATATATATTCATAATATATATATTCAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	406	0.0025	95	c.657 others(112): Show c.657+2769_657+2770insATGAATATATATATTATGAATATATATA TGAATATATATATTATGAATATATATATGAATATATATATTATGAATATA TATATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296190	T T	TTTTCTTT others(88): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCCTTTCC TTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	388	0.0026	95	c.207 others(110): Show c.207+567_207+568insCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC CTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCTTTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296190	T T	TTTTCTTT others(88): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCC TTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	388	0.0026	95	c.207 others(110): Show c.207+567_207+568insCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTT CCTTTCTTTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404056	T T	TTATATAT others(88): Show TTATATATAATATATATATAATATATATTTTATATATAATATATAATATA ATATATATTTTATATATATTATATTTTATATATATTATACATTTTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	268	0.0037	95	c.441 others(112): Show c.441+5318_441+5319insTAAAATGTATAATATATATAAAATATAA TATATATAAAATATATATTATATTATATATTATATATAAAATATATATTA TATATATATTATATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGS12_chr4_3288021_3444913	3341637	A A	AGGGGAGG others(88): Show AGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGA TGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02280.hp1 others(4): Show HG01109.hp2 HG02109.hp2 HG02280.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03471.hp2	a0001 a0015 a0022 a0001 a0015 a0022	a0001c0002 a0001c0004 a0015c0059 others(1): Show a0001c0002 a0001c0004 a0015c0059 a0022c0042	a0001c0002t0001 a0001c0004t0001 a0015c0059t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0015c0059t0001 a0022c0042t0001	a0001c0002t0001g0100 a0001c0002t0001g0143 a0001c0002t0001g0144 others(4): Show a0001c0002t0001g0100 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0270 a0001c0004t0001g0101 a0015c0059t0001g0099 a0022c0042t0001g0138	7	312	0.0224	95	c.188 others(114): Show c.1882-1297_1882-1296insGAGGGTGGAGAGATGGGGGTGTGGGG AGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGGAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS20_chr8_53846795_53964303	53947196	C C	CGCTATAT others(88): Show CGCTATATAAGATATAGCATATTTATACACGCTATATAAGATATAGCATA TTTATTTATACATGCTATATAAGATATAGCATATTTATTTATACAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	258	0.0039	95	c.743 others(110): Show c.743+473_743+474insACACGCTATATAAGATATAGCATATTTATT TATACATGCTATATAAGATATAGCATATTTATTTATACATGCTATATAAG ATATAGCATATTTAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF111_chr15_58982663_59102419	59053157	C C	CTCAGTAA others(88): Show CTCAGTAATTTTATCGGTGCTCTGAACTAACACATCAATGAAACATCCTT ATCTGTTTTTATAAATAACTGGAAAAGACATTGCCCTATTGCAGAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19058.hp1 NA18956.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0115 a0001c0001t0006g0116	2	330	0.0061	95	c.100 others(112): Show c.1007+760_1007+761insCAATGAAACATCCTTATCTGTTTTTATA AATAACTGGAAAAGACATTGCCCTATTGCAGAATCAGTAATTTTATCGGT GCTCTGAACTAACACAT	RNF111	ENSG00000157450.16	transcript	ENST00000348370.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(88): Show TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp2 HG02132.hp1 others(6): Show HG01928.hp1 HG01934.hp2 HG02132.hp1 HG04199.hp1 NA18522.hp2 NA18963.hp2 NA18986.hp2 NA18998.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0228 a0001c0001t0001g0284 a0001c0001t0005g0291	9	308	0.0292	95	c.-75 others(114): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	334502	A A	AACAAGGA others(88): Show AACAAGGACAGGGACAAGGCAACCACCCCACCCAGTGCAGCTCCTTCTCC CCACGCCTTCCCCCAGGGCCAGCCCATCCACTGTGGAGGGACAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	133	0.0075	95	c.-21 others(112): Show c.-212-663_-212-569dupCCCTGTCCCTCCACAGTGGATGGGCTGG CCCTGGGGGAAGGCGTGGGGAGAAGGAGCTGCACTGGGTGGGGTGGTTGC CTTGTCCCTGTCCTTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84150852	T T	TATATAGA others(88): Show TATATAGAGAGGATATATATAGGATATATATATAGAGAGGATATATATAG GATATATATATAGAGAGGATATATATAGGATATATATATATAGAGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp1 others(49): Show HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG03239.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18990.hp1 NA18992.hp1 NA19000.hp1 NA19003.hp1 NA19010.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 others(13): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0032 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047	a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0040 others(48): Show a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0007g0028 a0002c0002t0007g0029 a0002c0002t0007g0032 a0002c0002t0007g0033 a0002c0002t0007g0034 a0002c0002t0007g0035 a0002c0002t0007g0036 a0002c0002t0007g0037 a0002c0002t0007g0039 a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 a0002c0002t0009g0067 a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0021g0017 a0002c0002t0021g0020 a0002c0002t0022g0014 a0002c0002t0022g0023 a0002c0002t0023g0031 a0002c0002t0023g0063 a0002c0002t0032g0012 a0002c0002t0037g0022 a0002c0002t0038g0024 a0002c0002t0039g0021 a0002c0002t0043g0038 a0002c0002t0044g0041 a0002c0002t0045g0052 a0002c0002t0046g0048 a0002c0002t0047g0050	52	272	0.1912	95	c.259 others(112): Show c.259-2730_259-2729insCCTCTATATATATATATCCTATATATAT CCTCTCTATATATATATCCTATATATATCCTCTCTATATATATATCCTAT ATATATCCTCTCTATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPSA2_chr19_23758004_23833868	23761910	T T	TTCTTTCT others(88): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	366	0.0027	95	c.-15 others(106): Show c.-1527_-1526insTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC TCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTTCTTTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1093		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(88): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19011.hp1 HG03831.hp2 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0010 a0001c0004t0033 a0001c0003t0010 a0001c0004t0033	a0001c0003t0010g0069 a0001c0004t0033g0023 a0001c0003t0010g0069 a0001c0004t0033g0023	2	196	0.0102	95	c.348 others(114): Show c.348+21599_348+21693dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7103356	C C	CATATAAT others(88): Show CATATAATATATAATATTATATGTTAATTAACATATAATATATAATATTA TATGTTAATTAACATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02615.hp2 HG03688.hp2 others(1): Show HG01169.hp1 HG02615.hp2 HG03688.hp2 homoSapiens_chm13v2.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0004c0008 a0009c0020 a0004c0005 a0004c0008 a0009c0020	a0004c0005t0024 a0004c0008t0006 a0009c0020t0006 a0004c0005t0024 a0004c0008t0006 a0009c0020t0006	a0004c0005t0024g0289 a0004c0005t0024g0290 a0004c0008t0006g0274 others(1): Show a0004c0005t0024g0289 a0004c0005t0024g0290 a0004c0008t0006g0274 a0009c0020t0006g0250	4	292	0.0137	95	c.-49 others(106): Show c.-4989_-4988insATATAATATATAATATTATATGTTAATTAACATA TAATATATAATATTATATGTTAATTAACATATAATATATAATATTATATA TAATATAATAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4604		chr6	TogoVar
RTL4_chrX_112078016_112462514	112310397	T T	TATATATA others(88): Show TATATATATATATATATATATGTAATATAATATACGTATATATAATATAG AAATATAATATATATTTCTATATTATATATACGTATATTATATTAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0039 a0003c0004t0006g0039	1	134	0.0075	95	c.-28 others(114): Show c.-285+3895_-285+3896insATGTAATATAATATACGTATATATAA TATAGAAATATAATATATATTTCTATATTATATATACGTATATTATATTA CATATATATATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59750205	A A	ATATAATA others(88): Show ATATAATATATATATTATATCTATAATATATAATATATATATTATATCTA TAATATATAATATATATTATATCTATAATATATTATATATTATATC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	172	0.0058	95	c.242 others(112): Show c.242-3725_242-3724insGATATAATATATAATATATTATAGATAT AATATATATTATATATTATAGATATAATATATATATTATATATTATAGAT ATAATATATATATTATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(88): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0343 a0001c0002t0002g0343	1	386	0.0026	95	c.241 others(112): Show c.241+1042_241+1043insAAGAAAGAAAGAAAGAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(88): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03710.hp1 HG02723.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0101 a0001c0002t0002g0273 a0001c0001t0001g0101 a0001c0002t0002g0273	2	386	0.0052	95	c.241 others(112): Show c.241+1042_241+1043insAAGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(88): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0377 a0002c0003t0003g0377	1	386	0.0026	95	c.241 others(112): Show c.241+1039_241+1040insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCAMP1_chr5_78355617_78485739	78448103	T T	TCTCCCCC others(88): Show TCTCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCTCCTC TCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG02109.hp2 others(8): Show HG01167.hp1 HG01496.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02615.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0001c0001t0026	a0001c0001t0006g0006 a0001c0001t0006g0127 a0001c0001t0006g0134 others(8): Show a0001c0001t0006g0006 a0001c0001t0006g0127 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0061 a0001c0001t0010g0063 a0001c0001t0022g0128 a0001c0001t0022g0129 a0001c0001t0026g0172	11	332	0.0331	95	c.633 others(112): Show c.633-1829_633-1828insTCCCCCTCCCCCTTCCCCTCTTCCACTC CTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTC CCCTTTCCTCCCCCCCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(88): Show CCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG00140.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0218 a0001c0001t0001g0232	2	332	0.0060	95	c.852 others(112): Show c.852+1461_852+1462insCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(88): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	332	0.0030	95	c.852 others(112): Show c.852+1461_852+1462insCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCTTT others(88): Show CCTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	332	0.0030	95	c.852 others(112): Show c.852+1461_852+1462insCTTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CTTTCTTT others(88): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	332	0.0030	95	c.852 others(112): Show c.852+1458_852+1459insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(88): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	370	0.0027	95	c.-47 others(106): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCARA5_chr8_27864883_27997673	27919210	A A	AAGAGGAT others(88): Show AAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAG GGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19087.hp2 HG03139.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0065 a0001c0002t0007 a0001c0002t0065	a0001c0002t0007g0089 a0001c0002t0065g0313 a0001c0002t0007g0089 a0001c0002t0065g0313	2	314	0.0064	95	c.916 others(112): Show c.916+2360_916+2361insCCCTCCTCCTCCTCTTTTTCTCCTCCTC CTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCC TTTCTTCCTTATCCTCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(88): Show TATATATACATATATATATATATATGTATATATATATACATATATATATA TATATACGTATATATATATATATATATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	210	0.0048	95	c.233 others(112): Show c.233-6885_233-6884insTATATATATATATGTATATATATATATA TATATATATACGTATATATATATATATATGTATATATATATACATATATA TATATATATGTATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCUBE1_chr22_43192280_43348372	43339802	T T	TCCCCCAC others(88): Show TCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCC CCTACTCTCCTCACTCTATCCCCCCACAAGCATAGCTCCAACCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0005 a0005c0016t0022 a0005c0016t0005 a0005c0016t0022	a0005c0016t0005g0021 a0005c0016t0022g0020 a0005c0016t0005g0021 a0005c0016t0022g0020	2	280	0.0071	95	c.89- others(108): Show c.89-568_89-567insGAGGGTTGGAGCTATGCTTGTGGGGGGATAGA GTGAGGAGAGTAGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CCACTCTC others(88): Show CCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCA CTCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0015 a0001c0053t0015	a0001c0053t0015g0013 a0001c0053t0015g0013	1	280	0.0036	95	c.89- others(108): Show c.89-573_89-572insAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAG AATGAGGAGAGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEC61G_chr7_54747253_54764211	54749390	G G	GAAAATGT others(88): Show GAAAATGTTTAAGAAATTCCTTCAGGTGATTCATGCATGGTGAAGTTTAA TACTGTTTCACAGTATTAGCTCTGGTACAGGTACTTAACAAACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	95	c.30 others(106): Show c.3020_*3021insTCTGTTTGTTAAGTACCTGTACCAGAGCTAATAC TGTGAAACAGTATTAAACTTCACCATGCATGAATCACCTGAAGGAATTTC TTAAACATTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		2862		chr7	TogoVar
SFT2D1_chr6_166314728_166347545	166343193	G G	GGAGTATG others(88): Show GGAGTATGATCTTTGAGTCAAAGGGCGTGGAGTGGGGGGAAAGGAGGGAT TTTTTCTTGTTTTTACTCTTGTCTCTTTCTCTTTATTTTGTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0175	1	388	0.0026	95	c.-71 others(104): Show c.-713_-712insAAGAAACAAAATAAAGAGAAAGAGACAAGAGTAAAA ACAAGAAAAAATCCCTCCTTTCCCCCCACTCCACGCCCTTTGACTCAAAG ATCATACTC	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		649		chr6	TogoVar
SGIP1_chr1_66529153_66756139	66630833	A A	AAGAAAGA others(88): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0012 a0002c0002t0009g0012	1	302	0.0033	95	c.75- others(110): Show c.75-2222_75-2221insGAGAGAGAGAGAGAGAGAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHC2_chr19_411589_466033	434454	T T	TCGTGAGT others(88): Show TCGTGAGTGAGATCGTGAGATTGTGAGATGAGATCATGAGTGAGGTGAGT GAGTGAGATCATGAGGTGAGTGAGATCGTGAGATTTTGAGTCTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	212	0.0047	95	c.111 others(112): Show c.1110+254_1110+255insCACAGACTCAAAATCTCACGATCTCACT CACCTCATGATCTCACTCACTCACCTCACTCATGATCTCATCTCACAATC TCACGATCTCACTCACG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(88): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	256	0.0039	95	c.165 others(112): Show c.165+5356_165+5450dupGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(88): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATGAAAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0108 a0002c0005t0002g0108	1	256	0.0039	95	c.165 others(112): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TGAAAAAAGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401160	A A	ACCCCCCG others(88): Show ACCCCCCGGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGCCCCGCTCACACCCGCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	242	0.0041	95	c.47 others(106): Show c.4735_*4736insGTGAGCGGGGCGGGTGTGAGCGGGGCGGGGGTGA GCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGGTGAGCG GGGCCGGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4555		chr11	TogoVar
SIGIRR_chr11_400716_419999	401670	A A	ACACCCGC others(88): Show ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	242	0.0041	95	c.42 others(106): Show c.4225_*4226insGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAG CGGGGCGGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4045		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704003	C C	CATATGTT others(88): Show CATATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATA TATATACACATATACATATATATACACATATAAAATATATATACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG02615.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	300	0.0067	95	c.626 others(112): Show c.626+5466_626+5467insATGTTTTATAAGTGTATATATACACATA TAAAATATATATACATATATATATACACATATACATATATATACACATAT AAAATATATATACATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1070432	G G	GCCCCCAG others(88): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	118	0.0085	95	c.224 others(114): Show c.2241+3200_2241+3201insGCTGCATAAGTGTGATACCCGTGTGC TGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTC ACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070822	C C	CAGCCCCC others(88): Show CAGCCCCCAGTGAGCCTCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	118	0.0085	95	c.224 others(114): Show c.2241+2810_2241+2811insCACTGGGGGCTGCGTTAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGC TGGAGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071033	G G	GCCCCCAG others(88): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0007 a0007c0030t0007	a0007c0030t0007g0012 a0007c0030t0007g0012	1	118	0.0085	95	c.224 others(114): Show c.2241+2599_2241+2600insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGT GCTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071783	G G	GCCCCCAG others(88): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATG CAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	118	0.0085	95	c.224 others(114): Show c.2241+1849_2241+1850insGCTGCGTTAAGTGTGATGCCGTGTGC TGGAGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTC ACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071903	T T	TGCAGCCC others(88): Show TGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACT TAACGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0004	1	118	0.0085	95	c.224 others(114): Show c.2241+1729_2241+1730insGTTAAGTGTGATGCCGTGTGCTGGGG GCTCACTGGGGGCTGCGTTAAGTGTGATGCCGTGTGCTGGGGGCTCACTG GGGGCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46600313	G G	GGGAAGGA others(88): Show GGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAAAGAAAGGAAAGGAA AGAAAAGGAAGGGAAAGGAAAGGGAGGGAAAGAAAGAAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0315 a0001c0003t0004g0315	1	390	0.0026	95	c.542 others(110): Show c.542-277_542-276insTTCCTCCTTTCTTTCTTTCCCTCCCTTTCC TTTCCCTTCCTTTTCTTTCCTTTCCTTTCTTTTCCTTTCCTTCCTTCCTT CCTTTCCTTCCTTCC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	3/12			chr20	TogoVar
SLC22A1_chr6_160116815_160163718	160152643	A A	ATTCTCTT others(88): Show ATTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	416	0.0024	95	c.138 others(114): Show c.1386-2151_1386-2150insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTTCT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19346334	A A	ATATATAT others(88): Show ATATATATATGGTATATATATATGGTGTATATATATATATGGTATATATA TATGGTGTATATATATGTGGTGTATATATATGGTATATATATGGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0035 a0002c0007t0002g0035	1	160	0.0063	95	c.271 others(114): Show c.271+65267_271+65268insATGGTGTATATATATATATGGTATAT ATATATGGTGTATATATATGTGGTGTATATATATGGTATATATATGGTGT ATATATATGGTATATATAT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(88): Show TATATATAATATATATATTATATATATGTTATATATATTATATATATGTT ATATATATATTACATATATATAATATATATATTATATATATGTTAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04228.hp2 HG03239.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	350	0.0057	95	c.624 others(110): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A44_chr1_156189104_156217796	156203392	C C	CCCAACTC others(88): Show CCCAACTCCCAGCTCCTTAGTTAGAATATAAATTCCATGAAGGCATCTCC CTGTCCATGTCTCTGTTCTATGTCTGGTACTTATCATGGTGCCTGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0036 a0003c0006t0036	a0003c0006t0036g0097 a0003c0006t0036g0097	1	318	0.0031	95	c.625 others(112): Show c.625+2922_625+3016dupCAACTCCCAGCTCCTTAGTTAGAATATA AATTCCATGAAGGCATCTCCCTGTCCATGTCTCTGTTCTATGTCTGGTAC TTATCATGGTGCCTGGC	SLC25A44	ENSG00000160785.14	transcript	ENST00000359511.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(88): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0072 a0004c0003t0001g0072	1	396	0.0025	95	c.108 others(114): Show c.1083+4469_1083+4470insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928575	T T	TTTCTCTC others(88): Show TTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0355 a0004c0003t0001g0355	1	396	0.0025	95	c.108 others(114): Show c.1083+4469_1083+4470insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC38A1_chr12_46178063_46274043	46178307	C C	CGTTGGGG others(88): Show CGTTGGGGGAAAGTGAGAGGGTTGGGGGAAAGTGAGAGGGTTGGGGGAAA GTGAGAGGGTTGGGGGAAAGTGAGAGGGTTGGGGGAAAGTGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0147 a0002c0002t0024g0147	1	330	0.0030	95	c.10 others(108): Show c.10662_*10663insCCTCTCACTTTCCCCCAACCCTCTCACTTTCC CCCAACCCTCTCACTTTCCCCCAACCCTCTCACTTTCCCCCAACCCTCTC ACTTTCCCCCAAC	SLC38A1	ENSG00000111371.16	transcript	ENST00000398637.10	protein_coding		4755		chr12	TogoVar

Search by Variant

Search

Search Results