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
LOC400499_chr16_11367015_11532247	11486269	GGAGGGAT others(134): Show GGAGGGATGGATGGATGGATGGATGGATGAATGGTACATGGGTAGACAGA TGATGGGTGGGTAGATGAATGAATGATGGCTGGATAGATGAATGAATGAT GGCTGGGTGGGTGTGTGGTTTGGTAAATGGATTGAGTGAATA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0118 a0118	a0118c0130 a0118c0130	a0118c0130t0002 a0118c0130t0002	a0118c0130t0002g0245 a0118c0130t0002g0245	1	310	0.0032	-141	c.201 others(17): Show c.2013+852_2013+992del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	15/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493917	TGGGGGGC others(134): Show TGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGG GGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCG TGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0150 a0150	a0150c0043 a0150c0043	a0150c0043t0004 a0150c0043t0004	a0150c0043t0004g0223 a0150c0043t0004g0223	1	310	0.0032	-141	c.143 others(17): Show c.1432-262_1432-122del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LRCOL1_chr12_132598151_132615582	132598496	CCTCCTCC others(134): Show CCTCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGTCCCCTCCTCTCCG CGCGCCCCTGCTCCTCTCCGCGCGCCCCTCCTCTCCGCTCGCCCCTCCTC TCCGCTCGCCCCTCCTCTCCGCGCGCCCCTCCTCTCCGCTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0064 a0003c0003t0001g0064	1	390	0.0026	-141	c.47 others(11): Show c.4765_*4905del		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					4654		chr12	TogoVar
MAEA_chr4_1284891_1345137	1333661	CGTGCCCA others(134): Show CGTGCCCACCCCTGCACCCACCCCATGCCCACCGTGTGCTCACCCCCTTG CCCACCCCCATGCCCGTGCTCACCTCTGCACCCACCCCATGCCCACCCCC ATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01106.hp1 others(21): Show HG00558.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01256.hp1 HG01515.hp2 HG01891.hp1 HG02280.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18945.hp2 NA18953.hp2 NA18954.hp2 NA18963.hp2 NA18993.hp1 NA18999.hp1 NA19043.hp2 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0007 a0001c0014t0001	a0001c0001t0001g0134 a0001c0001t0001g0199 a0001c0001t0001g0203 others(21): Show a0001c0001t0001g0134 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0287 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0001g0373 a0001c0002t0001g0379 a0001c0003t0007g0282 a0001c0014t0001g0298	24	388	0.0619	-141	c.765 others(15): Show c.765+843_765+983del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333708	TTGCCCAC others(134): Show TTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCACCCCATGCCCACC CCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTGCCCATGTGCC CACCCCTGCACCCACCCCATGCCCACCGTGTGCTCACCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02300.hp1 NA18522.hp1 HG00323.hp2 HG02300.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0059 a0001c0002t0001g0380 a0001c0002t0001g0030 a0001c0002t0001g0059 a0001c0002t0001g0380	3	388	0.0077	-141	c.765 others(16): Show c.765+961_765+1101del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452175	GAAGAGAA others(134): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	163	0.0061	-141	c.995 others(17): Show c.995+4597_995+4737del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452210	GAAGAGAA others(134): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	163	0.0061	-141	c.995 others(17): Show c.995+4562_995+4702del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MPPED1_chr22_43407014_43512848	43496708	GGTGGTGG others(134): Show GGTGGTGGTGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGG TGGTGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGCGGAGGTG GTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18981.hp1 NA19002.hp1 NA18945.hp1 NA18981.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0001 a0001c0002t0001 a0002c0011t0001 a0001c0001t0001 a0001c0002t0001 a0002c0011t0001	a0001c0001t0001g0215 a0001c0002t0001g0095 a0002c0011t0001g0158 a0001c0001t0001g0215 a0001c0002t0001g0095 a0002c0011t0001g0158	3	250	0.0120	-141	c.633 others(17): Show c.633-1516_633-1376del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195782145	TGCTGAGG others(134): Show TGCTGAGGAAGTGCTGGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCT GAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03225.hp2 HG03225.hp2	a0105 a0105	a0105c0124 a0105c0124	a0105c0124t0003 a0105c0124t0003	a0105c0124t0003g0116 a0105c0124t0003g0116	1	249	0.0040	-141	c.929 others(9): Show c.9294_9434del	p.Thr others(15): Show p.Thr3099_Ala3145del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9546/16756	9294/16239	3098/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783345	TACTGAGG others(134): Show TACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATG ATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCT GAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp2 HG02647.hp2	a0071 a0071	a0071c0175 a0071c0175	a0071c0175t0005 a0071c0175t0005	a0071c0175t0005g0227 a0071c0175t0005g0227	1	249	0.0040	-141	c.809 others(9): Show c.8094_8234del	p.Thr others(15): Show p.Thr2699_Val2745del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8346/16756	8094/16239	2698/5412			chr3	TogoVar
MYZAP_chr15_57586904_57690364	57687920	ATATGTGT others(134): Show ATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACA TATATAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATAC ACATATATAAATGTGTGTACAATATACACATATATAATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	352	0.0028	-141	c.34 others(11): Show c.3423_*3563del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2557		chr15	TogoVar
NBDY_chrX_56724243_56824179	56726022	TTATATAT others(134): Show TTATATATATGTATAACAAAATTGTTATATATATGTATAACAATATATGT ATAACAATATATGTTATATATATAACAATATATGTATTGTTATATATATA TAACAATATATGTATTGTTATATATATATAACAATATTGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	160	0.0063	-141	c.-33 others(11): Show c.-3331_-3191del		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding					3220		chrX	TogoVar
NEU4_chr2_241804193_241822413	241806161	CCCCTCAG others(134): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	319	0.0031	-141	c.-31 others(11): Show c.-3116_-2976del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3031		chr2	TogoVar
NLRP11_chr19_55780399_55836999	55835811	TGTCTCTA others(134): Show TGTCTCTACTGAAAATACAAAAATTAGCCGAGGCCAGGCACAGTGGCTCA TGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACTTGAG GTCAAGGGTTCGAGACCAGCCTGGCCAACATGGCGAAAGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0090 a0001c0011t0005g0090	1	444	0.0023	-141	c.-40 others(11): Show c.-4052_-3912del		NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding					3813		chr19	TogoVar
NLRP4_chr19_55831540_55886855	55835811	TGTCTCTA others(134): Show TGTCTCTACTGAAAATACAAAAATTAGCCGAGGCCAGGCACAGTGGCTCA TGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACTTGAG GTCAAGGGTTCGAGACCAGCCTGGCCAACATGGCGAAAGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0241 a0002c0002t0011g0241	1	424	0.0024	-141	c.-11 others(11): Show c.-1188_-1048del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding					728		chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851407	TTACGAGG others(134): Show TTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATTTACCGAGGCTGCGGTGTAATG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03486.hp2 NA19091.hp1 HG02717.hp2 HG03486.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0001c0005t0003 a0002c0003t0001 a0001c0005t0001 a0001c0005t0003 a0002c0003t0001	a0001c0005t0001g0011 a0001c0005t0003g0412 a0002c0003t0001g0086 a0001c0005t0001g0011 a0001c0005t0003g0412 a0002c0003t0001g0086	3	424	0.0071	-141	c.-65 others(15): Show c.-65-607_-65-467del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NXN_chr17_794310_984776	874535	GATCATGC others(134): Show GATCATGCCACTGCACTGTAGCCTGGGTGACAGAGCGAGACTCTGTCTCA AATAATAAATAAACAATTACCCAGTCTTGTTATGTCCTTACAGCAATGGG AGAACAGACTAATGCAGCTCCCAGGCACAAGCCTGGATCACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01081.hp2 others(27): Show HG00642.hp1 HG01070.hp2 HG01081.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp1 HG02055.hp2 HG02132.hp2 HG02257.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA18952.hp2 NA19007.hp1 NA19030.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0001t0033 a0001c0002t0009 a0001c0002t0032 a0001c0006t0005 a0003c0012t0001	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0076 others(27): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0002g0112 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0085 a0001c0001t0003g0165 a0001c0001t0003g0205 a0001c0001t0005g0059 a0001c0001t0005g0074 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0007g0073 a0001c0001t0023g0052 a0001c0001t0033g0241 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0002t0032g0242 a0001c0006t0005g0080 a0003c0012t0001g0236	30	242	0.1240	-141	c.361 others(19): Show c.361-48598_361-48458del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPCML_chr11_132409981_133537501	133458382	GTGTGTAT others(134): Show GTGTGTATATATATACACATATATACACGTGTGTGTATATATATACACAT ATATACACGTGTGTGTATATATATACACATATATACACGTGTGTGTATAT ACACATATATACACGTGTGTGTGTATATACACATATATACAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG02809.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0007 a0001c0001t0021g0036 a0001c0001t0004g0007 a0001c0001t0021g0036	2	68	0.0294	-141	c.61+ others(17): Show c.61+73741_61+73881del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
PARVB_chr22_44019302_44177939	44115335	GTTACTAA others(134): Show GTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAG GCCCTACAGCAACACAGATACATTGTTATTAACTAAGGCCCTGCACCAAC ACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA21309.hp1 NA18960.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0003 a0001c0002t0006g0101 a0001c0001t0001g0003 a0001c0002t0006g0101	2	332	0.0060	-141	c.274 others(17): Show c.274-3701_274-3561del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PEX5_chr12_7184686_7216459	7199889	CACCTCCC others(134): Show CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(166): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004 a0006c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0005t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0004c0004t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0297 a0001c0001t0007g0028 a0001c0001t0007g0163 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0209 a0001c0001t0008g0004 a0001c0001t0008g0225 a0001c0001t0008g0226 a0001c0001t0010g0233 a0001c0001t0010g0295 a0001c0001t0010g0296 a0001c0001t0018g0052 a0001c0001t0019g0175 a0001c0005t0001g0008 a0002c0002t0001g0162 a0002c0002t0007g0325 a0002c0002t0009g0332 a0002c0002t0009g0334 a0002c0002t0009g0335 a0002c0002t0014g0333 a0004c0004t0001g0161 a0006c0009t0001g0102	169	428	0.3949	-141	c.551 others(15): Show c.551+777_551+917del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	6/15						chr12	TogoVar
PFKP_chr10_3062548_3141802	3115242	GACAGGAC others(134): Show GACAGGACTGGGGATGCTGGGGTGAAAGTGTGTGTCCCACGGCGGAGGAC AGGACTGGGGATGCTGGGGTGAAAGTGTGTGTCCCACGGCGGAGGACAGG ACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0016 a0001c0021t0016	a0001c0021t0016g0120 a0001c0021t0016g0120	1	402	0.0025	-141	c.137 others(19): Show c.1372-1517_1372-1377del		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115284	CGGAGGAC others(134): Show CGGAGGACAGGACTGGGGATGCTGGGGTGAAAGTGTGTGTCCCACGGCGG AGGACAGGACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTGAGA ACAGGACTGGGGATGCCGGGGTGAAGGTGTGTGTCCCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp2 HG02735.hp2 others(6): Show HG00323.hp1 HG01943.hp2 HG02735.hp2 NA18957.hp1 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0002 a0001c0004t0006 a0001c0004t0008 others(1): Show a0001c0004t0002 a0001c0004t0006 a0001c0004t0008 a0001c0009t0001	a0001c0004t0002g0137 a0001c0004t0002g0152 a0001c0004t0006g0064 others(6): Show a0001c0004t0002g0137 a0001c0004t0002g0152 a0001c0004t0006g0064 a0001c0004t0006g0153 a0001c0004t0006g0293 a0001c0004t0008g0098 a0001c0009t0001g0125 a0001c0009t0001g0224 a0001c0009t0001g0322	9	402	0.0224	-141	c.137 others(19): Show c.1372-1470_1372-1330del		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25239427	TGCCGGCC others(134): Show TGCCGGCCCAGGGGGACCCAGCAGCACCCTCTGCAGCTGCTGGCCTAGGT GCTAAGCCCTTCACTGCCCGGGGCCGGTGGGGCCGGCCAGCCGCTCCGAC TGCGGAACCTGCCAAGCCCATGCCCACCCGGAACTCGCGCTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00642.hp1 others(80): Show HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0014t0006	a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0003g0001 others(57): Show a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0006g0002 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0008g0004 a0001c0001t0008g0029 a0001c0001t0008g0145 a0001c0001t0008g0150 a0001c0014t0006g0157	83	436	0.1904	-141	c.268 others(17): Show c.268+5000_268+5140del		PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
PIDD1_chr11_794184_810231	806186	GCCTTCCC others(134): Show GCCTTCCCCACCAACATGATACCCCCGAGCGGGCCTGTGCTTTATTCACC AGCTTCCTCGCCCAGGAGAACAGGTACTTAGGGAGGGAACAGACACCACC AGCTATGCCTGCTTCTTTCCTGAGGTCATATCAGCGGCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	408	0.0025	-141	c.-12 others(11): Show c.-1224_-1084del		PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding					956		chr11	TogoVar
PLBD1_chr12_14498661_14572883	14526244	CTGTCTAC others(134): Show CTGTCTACAAAAGACATACAACAAACACAAAACCACAAATAGTTTGAAAG TAAACAGACATTCCGTTTGTGCTAACAAATTAAAATATGCTTTGATTCAT ACTTAAACCCGAAAGCAGGAATGCCTACATTAATTGCTACAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0114 a0007c0008t0001g0114	1	360	0.0028	-141	c.844 others(17): Show c.844+9274_844+9414del		PLBD1	ENSG00000121316.11	transcript	ENST00000240617.10	protein_coding	6/10						chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50397540	GGGGGGCA others(134): Show GGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0295 a0001c0001t0026g0289 a0001c0001t0001g0295 a0001c0001t0026g0289	2	340	0.0059	-141	c.227 others(17): Show c.227+3418_227+3558del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRIMA1_chr14_93713298_93793485	93737455	CAACAGAG others(134): Show CAACAGAGGCGTGGGGAGGTCACTGGTGGGACCATCATGGGTGACACCAA CAGAGGCGTGGGGAGGTCACTGGTGGGACCATTATGGGTGACACCAACAG AGGCATGGGGAGGTCACTGGTGGGACCATCATGGGTGACACT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0370 a0001c0001t0024g0370	1	397	0.0025	-141	c.230 others(14): Show c.230-226_230-86del		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	3/4						chr14	TogoVar
PRKCA_chr17_66297613_66815743	66799427	GTGGTGGT others(134): Show GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGG TGATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0171 a0001c0001t0029g0171	1	178	0.0056	-141	c.185 others(19): Show c.1855-4434_1855-4294del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799442	GTGGTGGT others(134): Show GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAG TGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0016 a0001c0001t0041g0016	1	178	0.0056	-141	c.185 others(19): Show c.1855-4419_1855-4279del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2121893	GTCACGGT others(134): Show GTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGT TAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	-141	c.335 others(19): Show c.335-13365_335-13225del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1710802	GCACCCAC others(134): Show GCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCA CCCACTCCACCAGCACCCACTCTCCACCAGCACCTGCTCCACCAGCACCC ACTCTCCACCAGCACCCACTCCACCAGCACCCACTCTATGAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0310 a0001c0006t0013g0310	1	322	0.0031	-141	c.201 others(19): Show c.201-17809_201-17669del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RASA3_chr13_113972783_114137623	113974161	GCTTTCCT others(134): Show GCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCT TTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTC CCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0011 a0001c0001t0006g0012	2	67	0.0299	-141	c.50 others(11): Show c.5045_*5185del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					3621		chr13	TogoVar
RASA3_chr13_113972783_114137623	113974227	CTGGGGCG others(134): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02738.hp1 others(3): Show HG02257.hp2 HG02258.hp1 HG02738.hp1 HG03209.hp1 HG03540.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0005t0001 a0002c0004t0004 a0001c0001t0001 a0001c0005t0001 a0002c0004t0004	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0005t0001g0015 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0005t0001g0015 a0001c0005t0001g0016 a0002c0004t0004g0001 a0002c0004t0004g0029	6	67	0.0896	-141	c.49 others(11): Show c.4979_*5119del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					3555		chr13	TogoVar
RASA3_chr13_113972783_114137623	114119662	TTCTCTCC others(134): Show TTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCA GGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGC GCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03209.hp1 HG03540.hp1 HG01943.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0059	3	67	0.0448	-141	c.55+ others(17): Show c.55+12632_55+12772del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RIMBP2_chr12_130391133_130721299	130641368	TTCACGGG others(134): Show TTCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACG GGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0001 a0017c0037t0001	a0017c0037t0001g0002 a0017c0037t0001g0002	1	180	0.0056	-141	c.-35 others(21): Show c.-351-13053_-351-12913del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF213_chr17_80255852_80403794	80314257	TGGTGGTA others(134): Show TGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTG ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGAGGTACT GGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0161	1	292	0.0034	-141	c.281 others(19): Show c.2811+1097_2811+1237del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315081	ATGGTGGA others(134): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGG TGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG02723.hp1 others(1): Show HG01081.hp1 HG01346.hp1 HG02723.hp1 NA18986.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0075 a0002c0002 a0002c0010 others(1): Show a0001c0075 a0002c0002 a0002c0010 a0008c0028	a0001c0075t0015 a0002c0002t0010 a0002c0010t0005 others(1): Show a0001c0075t0015 a0002c0002t0010 a0002c0010t0005 a0008c0028t0018	a0001c0075t0015g0099 a0002c0002t0010g0050 a0002c0010t0005g0186 others(1): Show a0001c0075t0015g0099 a0002c0002t0010g0050 a0002c0010t0005g0186 a0008c0028t0018g0244	4	292	0.0137	-141	c.281 others(19): Show c.2811+1926_2812-1955del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
ROPN1L_chr5_10436879_10470026	10458507	TCATGTAC others(134): Show TCATGTACACCATCCCCCTCATGTACACCATCCCCCGTGTACACCATCCC CCCCATGTACACCATCCCCCCTATGTACACCATCCCCCTCATGTACACCG TCCCCACCATGTACATCATCCCCCCATGTACACCGTCCCCAC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	374	0.0027	-141	c.418 others(17): Show c.418-2659_418-2519del		ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RPLP2_chr11_804967_817876	806186	GCCTTCCC others(134): Show GCCTTCCCCACCAACATGATACCCCCGAGCGGGCCTGTGCTTTATTCACC AGCTTCCTCGCCCAGGAGAACAGGTACTTAGGGAGGGAACAGACACCACC AGCTATGCCTGCTTCTTTCCTGAGGTCATATCAGCGGCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	428	0.0023	-141	c.-38 others(11): Show c.-3854_-3714del		RPLP2	ENSG00000177600.9	transcript	ENST00000321153.9	protein_coding					3780		chr11	TogoVar
SAXO1_chr9_18922650_19038209	19016412	GGCGACAG others(134): Show GGCGACAGAGCAAGACTCCTTCTCAAAAAATAAATATGTAAATAAATAAA TAAAAGCATAACCCATGGCTTGAGAATGCCTCTAGCCCAGTGATTCTCAG GTGGGGGCAATTTTGCCCCCAAGGAAACATGTGGCAATGTGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp1 HG03540.hp2 HG02055.hp1 HG03486.hp1 HG03540.hp2	a0003 a0009 a0019 a0003 a0009 a0019	a0003c0003 a0009c0009 a0019c0022 a0003c0003 a0009c0009 a0019c0022	a0003c0003t0011 a0009c0009t0005 a0019c0022t0005 a0003c0003t0011 a0009c0009t0005 a0019c0022t0005	a0003c0003t0011g0165 a0009c0009t0005g0190 a0019c0022t0005g0191 a0003c0003t0011g0165 a0009c0009t0005g0190 a0019c0022t0005g0191	3	364	0.0082	-141	c.38+ others(17): Show c.38+16318_38+16458del		SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	1/3						chr9	TogoVar
SCAMP4_chr19_1900399_1931013	1923730	TGCCTCAG others(134): Show TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCGCACCT GGCTAATTATTTTGTTTTTGTATTTTTGGTAGAGACAGGTTTTCACCGTG TTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA20905.hp2 HG02071.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0047 a0001c0001t0036g0157 a0001c0001t0001g0047 a0001c0001t0036g0157	2	442	0.0045	-141	c.514 others(15): Show c.514-372_514-232del		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1923736	AGCCTCCC others(134): Show AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCGCACCTGGCTAA TTATTTTGTTTTTGTATTTTTGGTAGAGACAGGTTTTCACCGTGTTAGCC AGGATGGTCTCAATCTCCTGACCTCGTGATCCTCCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(72): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19083.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0007 others(1): Show a0001c0001 a0002c0002 a0003c0007 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0002c0002t0010 a0003c0007t0012 a0008c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(66): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0290 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0403 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0230 a0001c0001t0003g0009 a0001c0001t0003g0043 a0001c0001t0003g0293 a0001c0001t0003g0339 a0001c0001t0004g0143 a0001c0001t0006g0163 a0001c0001t0011g0071 a0001c0001t0012g0040 a0001c0001t0018g0353 a0001c0001t0020g0038 a0001c0001t0027g0035 a0001c0001t0033g0145 a0001c0001t0034g0150 a0001c0001t0035g0138 a0002c0002t0010g0343 a0003c0007t0012g0310 a0008c0012t0001g0338	75	442	0.1697	-141	c.514 others(15): Show c.514-362_514-222del		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SHC2_chr19_411589_466033	426670	ACCGAGAG others(134): Show ACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGA GTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGG ACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0182 a0003c0008t0005g0182	1	212	0.0047	-141	c.117 others(19): Show c.1175-1580_1175-1440del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12						chr19	TogoVar
SLC16A9_chr10_59645764_59714850	59681456	GTGTATGT others(134): Show GTGTATGTGTATGTATATGTATATGTATATGTATATGTATATGTATATGT ATATGATGTATATGTATATGTGTATGTGTATGTGTATGTATATGTATATG TATATGATGTATATGTATATGTGTATGTGTATGTATATGTAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp2 HG02572.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0024 a0001c0001t0007g0265 a0001c0001t0004g0024 a0001c0001t0007g0265	2	352	0.0057	-141	c.196 others(17): Show c.196+2499_196+2639del		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22396391	GAGAGAGA others(134): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAG AGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03017.hp2 NA18954.hp1 others(4): Show HG00323.hp1 HG03017.hp2 NA18954.hp1 NA18984.hp2 NA18995.hp1 NA19056.hp2 NA19057.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0020 a0003c0001t0001 a0003c0001t0020	a0003c0001t0001g0068 a0003c0001t0001g0074 a0003c0001t0001g0091 others(4): Show a0003c0001t0001g0068 a0003c0001t0001g0074 a0003c0001t0001g0091 a0003c0001t0001g0123 a0003c0001t0001g0136 a0003c0001t0001g0220 a0003c0001t0020g0071	7	324	0.0216	-141	c.-15 others(17): Show c.-15-8304_-15-8164del		SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8						chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29558298	TGAATGTG others(134): Show TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGAGTGAGGTGGA GAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0089 a0001c0004t0006g0089	1	330	0.0030	-141	c.-11 others(19): Show c.-114-4579_-114-4439del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559331	AGGGGGAG others(134): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02976.hp1 HG03579.hp1 others(1): Show HG02015.hp2 HG02976.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0010 a0001c0002t0002 a0001c0003t0010	a0001c0002t0002g0154 a0001c0003t0010g0207 a0001c0003t0010g0211 others(1): Show a0001c0002t0002g0154 a0001c0003t0010g0207 a0001c0003t0010g0211 a0001c0003t0010g0212	4	330	0.0121	-141	c.-11 others(19): Show c.-114-5612_-114-5472del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559372	GGGGGAGT others(134): Show GGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA GGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	330	0.0030	-141	c.-11 others(19): Show c.-114-5653_-114-5513del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SPPL2B_chr19_2323684_2360095	2348743	TTCTCTCT others(134): Show TTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCGTTC TCTCCCTCCACACACACTCGTGTTCTCATTCGCTTGATTCCATTCTCTCC CTCCACACACACTCACGCGCTGTCATTCGCTTGATTCCATTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0183 a0002c0005t0004g0183	1	414	0.0024	-141	c.135 others(19): Show c.1355-2682_1355-2542del		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
TAF3_chr10_7813505_8021631	7992498	GTGATTAC others(134): Show GTGATTACTCCCAACTAGGAAGGGCTAAAGAGGTTTGGGGAAAGTAGAAT TTGAGTAGAGCCCTTTAGAGTGAGTAAAATTTAGAAATGGAGAAATGTGA AGAAAAAAATAAAAGCAAAGATGTATGGAGTGAAATAATGAA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0185 a0006c0006t0007g0185	1	344	0.0029	-141	c.231 others(21): Show c.2315+15178_2315+15318del		TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results