Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
DLGAP2_chr8_732628_1713476	1375561	ACCTCTCC others(425): Show ACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGG TTAACGACCCCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATT TGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTA CATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCT CCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCC ACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGC CCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACT GAGCCCCCACCTCCTACATTTGGGTTAACGACC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG02258.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0006 a0002c0001t0005 a0001c0003t0006 a0002c0001t0005	a0001c0003t0006g0033 a0002c0001t0005g0035 a0001c0003t0006g0033 a0002c0001t0005g0035	2	40	0.0500	-432	c.106 others(21): Show c.106+116733_106+117164del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	166733	CATGGTCT others(425): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0273 a0001c0002t0024g0273	1	339	0.0030	-432	c.454 others(17): Show c.454-2961_454-2530del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
ERC1_chr12_986223_1500931	1090467	GAAAGTGC others(425): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGTGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTTGTTGTTG TTATTATTATTATTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01106.hp2 others(13): Show HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG02129.hp2 HG02976.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18949.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0007 a0001c0001t0011 a0001c0001t0086 others(12): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0086 a0001c0001t0087 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0119 a0002c0002t0035 a0002c0002t0105 a0002c0002t0115 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096	a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 others(13): Show a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 a0001c0001t0086g0060 a0001c0001t0087g0046 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0119g0061 a0002c0002t0035g0143 a0002c0002t0105g0148 a0002c0002t0115g0049 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063	16	162	0.0988	-432	c.108 others(19): Show c.1086+6888_1086+7319del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
FBLN7_chr2_112133385_112193218	112139319	CGTCCCTC others(425): Show CGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG TCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTC CAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTC TCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCG CCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCT CCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGT CCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCA GCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAC GCCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0248 a0001c0001t0013g0248	1	346	0.0029	-432	c.75+ others(14): Show c.75+639_75+1070del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FRYL_chr4_48492357_48785279	48659376	AGAAGAAG others(425): Show AGAAGAAGGAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAA GAGGAAGAGGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG00738.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0058 a0001c0002t0001g0037 a0001c0002t0001g0058	2	282	0.0071	-432	c.-81 others(19): Show c.-81+24865_-80-24887del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48659484	GGGAGAAG others(425): Show GGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	282	0.0036	-432	c.-81 others(19): Show c.-81+24757_-80-24995del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
GALNT9_chr12_132191372_132334589	132233242	CAGAGGAG others(425): Show CAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAG TGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0144 a0001c0028t0001g0144	1	183	0.0055	-432	c.107 others(21): Show c.1077+14236_1077+14667del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233741	CCCCTAGT others(425): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	183	0.0055	-432	c.107 others(21): Show c.1077+13737_1077+14168del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132305033	ACACACCC others(425): Show ACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCTGGGC ACACCCTCACCCGGGCACAGCCTCACCCAGACACGCCCTCACCCGGGCAC AGCCTCGCCCGGGCACACCCTCGCCTGGGCACAGCCTCGCCCGGGCACAC GCTCACCCAGACACACCCTTGCCCGGGCACACCCTCGCCCGGACACACCC TCACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTC GCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCAC CCAGACACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCC GGGCACATCCTCACCGGGGCACACCCTCACCCGGGCACACCCTCACCCGG GCACAGAATCGCCCAGACACAGCCTGACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01106.hp1 others(26): Show HG00423.hp1 HG00639.hp2 HG01106.hp1 HG01167.hp1 HG02080.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03579.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0018 a0001c0035 a0001c0036	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0014t0003 a0001c0018t0001 a0001c0035t0009 a0001c0036t0003	a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 others(26): Show a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0002t0001g0053 a0001c0002t0001g0081 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0056 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0007t0001g0061 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0012t0002g0179 a0001c0012t0002g0183 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0018t0001g0039 a0001c0035t0009g0140 a0001c0036t0003g0055	29	183	0.1585	-432	c.239 others(19): Show c.239-19035_239-18604del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
IGFN1_chr1_201185824_201233952	201209793	AATAAGGC others(425): Show AATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATAGGTTC AGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGG GGTCAATGGATGAGGCAGGTTATAGGAAGAATTTGGGGGCTCCTGAGGGA ATAGGTTCAGGGAGTAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGT AGAAATGGGGTCAGTGAATGAGGCAGGTTATAGGAAGGATTTGGGGGCTC CTGAGGGAATGGGTTCAGGGAGTAAGGCAGGTTTCAGGGATGGTTTAGGG GGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTT GGGTGCTCCTAAGGGAATAGGTTCAGGGAGCAAGGCAGATTTTAGGGATG CTTTAGGGAGTTCTGGGGAAATGGGGTCAATGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp2 HG01884.hp2	a0076 a0076	a0076c0104 a0076c0104	a0076c0104t0007 a0076c0104t0007	a0076c0104t0007g0272 a0076c0104t0007g0272	1	428	0.0023	-432	c.490 others(9): Show c.4903_5334del	p.Lys others(15): Show p.Lys1635_Asp1778del	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5034/11811	4903/11127	1635/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5A_chr10_132532787_132788480	132771849	GGAGGCCA others(425): Show GGAGGCCACAGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCACTG ACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGC ACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACT CAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGA CACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGA CGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGT GGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAA GAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGA TGAAGAGTGGGACGGACACTCAGCACTGACACA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp1 NA18945.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	204	0.0098	-432	c.978 others(17): Show c.978-5813_978-5382del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	952932	CACCCCAA others(425): Show CACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCT CCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACA GACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAAC CAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATATC CACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACC CCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCT CCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCA CACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCC AAACCAGCTTCCTACACGTTCACACAGACACGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG01928.hp2 others(5): Show HG00621.hp1 HG01261.hp1 HG01928.hp2 HG01975.hp2 HG02273.hp1 NA18612.hp1 NA18966.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0001c0018 others(1): Show a0001c0001 a0001c0013 a0001c0018 a0002c0007	a0001c0001t0001 a0001c0013t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0013t0001 a0001c0018t0001 a0002c0007t0001	a0001c0001t0001g0143 a0001c0001t0001g0215 a0001c0001t0001g0219 others(5): Show a0001c0001t0001g0143 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0013t0001g0220 a0001c0018t0001g0125 a0002c0007t0001g0141 a0002c0007t0001g0142	8	294	0.0272	-432	c.503 others(16): Show c.503+993_503+1424del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1937700	AGCAGGGA others(425): Show AGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCA CACACAAACATCAGCCGCCCACAGCAGGGAGGTGCAGGGTCACTGCGCAC CCGAGACCCCGACCTCACGCCACACACAAACATCAGCCGCCCACAGCAGG GAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCACACACA AACATCAGCCGCCCACAGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGA CCCCGACCTCACGCCACACACAAACATCAGCCGCCCACAGCAGGGAGGTG CAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCACACACAAACATC AGCCGCCCACGGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGA CCTCACGCCACACACAAACATCAGCCGCCCACG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18952.hp2 NA18944.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0003t0001g0059 a0001c0003t0001g0061	2	264	0.0076	-432	c.159 others(18): Show c.1597-1235_1597-804del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18						chr7	TogoVar
MAGEB3_chrX_30225657_30242495	30232727	TGCGCCAC others(425): Show TGCGCCACTGCACTCCCGCCTGGGTGACAGAGAGAGACTCCATCTCAAAA TAAGTAAATAAATAAATAAATATAAACTTTTTTTTATTTTTTATTTTAAG GCAGGGCTGTGGCTCACGCTTGTAATCCCAACATTTTGGGCGGAGGAAGC CAGCCTCATCGCTTAAGCACAGGAGTTCGCGGACTGGGAGGTGAGCTGCC CCTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCC CTAGGAGTCAAGGCTGCAGTGAGCCAAGGTCACGCCACTGCGCTCCAGCC TGGGCGACAGAGAGAGACACTGTCTCAAATTAGCCGGGCGTGGTGGGGCA CAGGTGTAGTCCCAGCTATTCGGGAGGTGGAGGCAGGAGAATCCCTTGAA CCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC	T T	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA19006.hp1 NA19078.hp2 NA18954.hp2 NA19006.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0035 a0003c0003t0006g0097 a0003c0003t0006g0035 a0003c0003t0006g0097	3	338	0.0089	-432	c.-25 others(15): Show c.-253-68_-163-72del		MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC4_chr3_195741771_195816929	195786796	TTGGATGC others(425): Show TTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGT AGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGG ATACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGAT GCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGC TGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGGGCTGGTGACATGAAGAGGAGTGACGTGACCTGTGGATGCTGAG GAAGTGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGA AGTGTCGGTGACAAGAAGAGAGGTGGCCTGACCTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGTGTGACCTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0038 a0038	a0038c0163 a0038c0163	a0038c0163t0002 a0038c0163t0002	a0038c0163t0002g0005 a0038c0163t0002g0005	1	249	0.0040	-432	c.435 others(9): Show c.4352_4783del	p.Thr others(15): Show p.Thr1451_Ser1594del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4895/16756	4352/16239	1451/5412			chr3	TogoVar
PCGF3_chr4_700832_775089	707691	CCCTGGGG others(425): Show CCCTGGGGGCCGGGACCCTGAGACAGCTCTGTTTTCACCTGGGGGCCGGG ACCCTGAGACAGCTCTGTTTTCACCTGGGGGCCGGGACCCTGGGACAGCT CTGTTTTCCCCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCCCCTGG GGGTCGGGACCCTGGGACAGCCCTGTTTTCACCTGGGGGTCGGGACCCTG AGACAGCCCTGTTTTCCCCTGGGGGTCGGGACCCTGGGACAGCCCTGTTT TCCCCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGTCG GGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGCCGGGACCCTGGGACAG CCCTGTTTTCACCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCACCT GGGGGCCGGGACCCTGAGACAGCCCTGTTTTCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	366	0.0027	-432	c.-19 others(19): Show c.-190+1724_-190+2155del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMTD2_chr20_64250748_64281226	64270716	ATAAAATG others(425): Show ATAAAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTG ATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGT TGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGT TCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAG GTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACG TGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGG CATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGA AGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTG AGGAAGGGCATGTGAGGTGTTCGTTGTGATACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	332	0.0030	-432	c.707 others(17): Show c.707-2502_707-2071del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64270719	AAATGGTA others(425): Show AAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTGATA CGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGT GATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCG TTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTG TTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGA GGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCAT GTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGG GCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGG AAGGGCATGTGAGGTGTTCGTTGTGATACGTAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp1 HG02976.hp2 HG02040.hp1 HG02129.hp1 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0003g0031 a0003c0005t0001g0125 a0001c0001t0003g0031 a0003c0005t0001g0125	3	332	0.0090	-432	c.707 others(17): Show c.707-2473_707-2042del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271037	TACGTACA others(425): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAA GGGCATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGA GGAAGGGCATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTT CTGAGGAAGGGCATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp2 HG01070.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	2	332	0.0060	-432	c.707 others(17): Show c.707-2132_707-1701del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRB2_chr12_11386540_11400567	11393508	CTGGTTGC others(425): Show CTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATC GAGAACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTT CCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCC TTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCCTT GTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGAC TTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACC TTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAG GAGGTGGGGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGT GGCTTTCCTGGAGGAGATGGGGGACCTTGAGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG02280.hp1 NA19003.hp1 others(2): Show HG00438.hp1 HG02280.hp1 NA19003.hp1 NA19003.hp2 NA19083.hp2	a0007 a0007	a0007c0009 a0007c0021 a0007c0009 a0007c0021	a0007c0009t0002 a0007c0021t0002 a0007c0009t0002 a0007c0021t0002	a0007c0009t0002g0028 a0007c0009t0002g0047 a0007c0009t0002g0087 others(1): Show a0007c0009t0002g0028 a0007c0009t0002g0047 a0007c0009t0002g0087 a0007c0021t0002g0046	5	410	0.0122	-432	c.138 others(7): Show c.138_569del	p.Pro others(12): Show p.Pro47_Gln190del	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	607/1431	138/1251	46/416			chr12	TogoVar
RASA3_chr13_113972783_114137623	114083824	ACGGGGAA others(425): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03490.hp2 NA18954.hp2 HG03130.hp2 HG03490.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0003 a0001c0007t0002 a0001c0001t0001 a0001c0003t0003 a0001c0007t0002	a0001c0001t0001g0047 a0001c0003t0003g0021 a0001c0007t0002g0063 a0001c0001t0001g0047 a0001c0003t0003g0021 a0001c0007t0002g0063	3	67	0.0448	-432	c.56- others(16): Show c.56-10419_56-9988del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114083861	GTCCTCGC others(425): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAG TGGTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03130.hp1 HG00639.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0003 a0001c0001t0001g0017	2	67	0.0299	-432	c.56- others(17): Show c.56-10456_56-10025del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114085373	CTCCTCGC others(425): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0042 a0001c0011t0001g0042	1	67	0.0149	-432	c.56- others(17): Show c.56-11968_56-11537del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RFX7_chr15_56082280_56248879	56110459	CGAGGGGA others(425): Show CGAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCC ACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTG GGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGG GAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(139): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA18991.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19072.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0006c0012 a0007c0013 a0008c0014 a0009c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0002t0002 a0001c0002t0037 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0028 a0001c0003t0029 a0001c0003t0032 a0001c0003t0043 a0001c0003t0047 a0001c0009t0015 a0001c0010t0001 a0006c0012t0005 a0007c0013t0001 a0008c0014t0014 a0009c0018t0046	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0188 others(138): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0028 a0001c0001t0014g0355 a0001c0001t0014g0356 a0001c0001t0016g0232 a0001c0001t0016g0233 a0001c0001t0016g0236 a0001c0001t0019g0234 a0001c0001t0019g0235 a0001c0001t0022g0250 a0001c0001t0022g0344 a0001c0001t0023g0240 a0001c0001t0023g0241 a0001c0001t0030g0238 a0001c0001t0031g0343 a0001c0001t0034g0270 a0001c0001t0036g0272 a0001c0001t0041g0264 a0001c0001t0042g0345 a0001c0001t0045g0230 a0001c0001t0048g0249 a0001c0001t0052g0354 a0001c0001t0053g0359 a0001c0002t0002g0299 a0001c0002t0002g0327 a0001c0002t0037g0330 a0001c0003t0001g0247 a0001c0003t0001g0274 a0001c0003t0001g0288 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0300 a0001c0003t0001g0313 a0001c0003t0001g0326 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0004g0279 a0001c0003t0004g0283 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0004g0286 a0001c0003t0004g0295 a0001c0003t0004g0296 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0312 a0001c0003t0004g0324 a0001c0003t0004g0325 a0001c0003t0004g0341 a0001c0003t0005g0001 a0001c0003t0005g0278 a0001c0003t0005g0303 a0001c0003t0005g0304 a0001c0003t0005g0305 a0001c0003t0005g0306 a0001c0003t0005g0307 a0001c0003t0005g0308 a0001c0003t0005g0309 a0001c0003t0005g0316 a0001c0003t0005g0317 a0001c0003t0005g0319 a0001c0003t0015g0004 a0001c0003t0028g0029 a0001c0003t0029g0287 a0001c0003t0032g0351 a0001c0003t0043g0289 a0001c0003t0047g0314 a0001c0009t0015g0002 a0001c0009t0015g0003 a0001c0010t0001g0239 a0006c0012t0005g0277 a0007c0013t0001g0294 a0008c0014t0014g0358 a0009c0018t0046g0231	142	360	0.3944	-432	c.402 others(17): Show c.402-7221_402-6790del		RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9						chr15	TogoVar
RNF213_chr17_80255852_80403794	80314178	ATGGTGGT others(425): Show ATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGT GAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGTGG AGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTG ATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGA GGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTAC TGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTG GAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGT GGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG TGGTGGTGGAGGTAATGGAGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0132 a0001c0132	a0001c0132t0026 a0001c0132t0026	a0001c0132t0026g0006 a0001c0132t0026g0006	1	292	0.0034	-432	c.281 others(19): Show c.2811+1023_2811+1454del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	288379	TCTCTCCA others(425): Show TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	133	0.0075	-432	c.352 others(17): Show c.352-6957_352-6526del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877083	CTATATAT others(425): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTGTATAT ACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTG TATATACTATATATATGGTATATATATGGTGTATATACTATATATGGTAT ATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTA TATATATGGTATATATATGGTGTATATACTATATATATGGTATATATATG GTGTATATACTATATATATGGTATATATATGGTGTATATACTATATATAT GGTATATATATGGTGTATATACTATATATATGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02922.hp1 others(6): Show HG01891.hp1 HG02559.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp1 NA18983.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0005 a0001c0007t0010 a0003c0004t0001 a0001c0007t0005 a0001c0007t0010 a0003c0004t0001	a0001c0007t0005g0300 a0001c0007t0005g0301 a0001c0007t0005g0303 others(6): Show a0001c0007t0005g0300 a0001c0007t0005g0301 a0001c0007t0005g0303 a0001c0007t0005g0304 a0001c0007t0005g0306 a0001c0007t0005g0311 a0001c0007t0010g0247 a0001c0007t0010g0314 a0003c0004t0001g0218	9	314	0.0287	-432	c.339 others(19): Show c.3393+2435_3393+2866del		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SLC35F1_chr6_117902264_118322671	117923534	TGGAATAG others(425): Show TGGAATAGAATGGAAATTGACATACATATATACAAATACATATGTGTGTG TATATATACATATGTGTATATATACATATACATATGTATATATACATATA TGTACATATGTACATATGTACATATGTATATATACATATATGTACATATA TACATATGTACATATACATATATGTACATATATACATATATACATATGTA TATATACATATATGTACATATATACATATGCACATACATATGTATATATA CATATATGTACATATATACATATACACATACATATGTATATATACATATA CACATTACATATATGCACATATATATGTGTGTACATATATACATATGTAG ATACACATATACACATATATGTGTGTGTACATATATACATATGTGTTATG TACTAGATTGACACTTTATATATACATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0165 a0001c0001t0045g0165	1	182	0.0055	-432	c.173 others(19): Show c.173+15669_173+16100del		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974701	CAGGGAAA others(425): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp2 HG02109.hp2 others(2): Show HG00140.hp2 HG01952.hp2 HG02109.hp2 HG03491.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0065 others(2): Show a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0065 a0001c0002t0002g0077 a0002c0003t0001g0109	5	150	0.0333	-432	c.532 others(19): Show c.532-45196_532-44765del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974749	CAGGGAAA others(425): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp2 HG01175.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0045 a0001c0002t0001g0026 a0001c0001t0002g0045 a0001c0002t0001g0026	2	150	0.0133	-432	c.532 others(19): Show c.532-45244_532-44813del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975373	CAGGGAAA others(425): Show CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	150	0.0067	-432	c.532 others(19): Show c.532-45868_532-45437del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975561	AGCCTAGG others(425): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0095 a0002c0003t0002g0095	1	150	0.0067	-432	c.532 others(19): Show c.532-46056_532-45625del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976592	CAGCCCAG others(425): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA GCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGC CCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCC AGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAG GGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGG AAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAA AGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAG CCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCC ATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18962.hp1 HG01109.hp2 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0055 a0002c0004t0001g0121 a0001c0001t0001g0055 a0002c0004t0001g0121	2	150	0.0133	-432	c.532 others(19): Show c.532-47087_532-46656del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
TERT_chr5_1248167_1300068	1272555	GACCGCCA others(425): Show GACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCGCC ATCCAGTCACCACACATCAGACCCCCGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	392	0.0026	-432	c.228 others(17): Show c.2287-707_2287-276del		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
VAV2_chr9_133756894_133997324	133827216	GCTACTGC others(425): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGC TGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0109 a0002c0001t0001g0109	1	200	0.0050	-432	c.449 others(17): Show c.449+6624_449+7055del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827600	GCTACTGC others(425): Show GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0120 a0001c0007t0011g0120	1	200	0.0050	-432	c.449 others(17): Show c.449+6240_449+6671del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827610	TGCCCACT others(425): Show TGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGG CTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGTGGGGGCATCACCACCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02559.hp2 HG01517.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0001 a0001c0030t0001 a0001c0002t0001 a0001c0030t0001	a0001c0002t0001g0038 a0001c0030t0001g0014 a0001c0002t0001g0038 a0001c0030t0001g0014	2	200	0.0100	-432	c.449 others(17): Show c.449+6230_449+6661del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827684	CGGGCATC others(425): Show CGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0177 a0002c0001t0001g0177	1	200	0.0050	-432	c.449 others(17): Show c.449+6156_449+6587del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827696	GCTACCGC others(425): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGC TGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCA CTGGGGCTGACCACTGAGCGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0197 a0001c0004t0002g0197	1	200	0.0050	-432	c.449 others(17): Show c.449+6144_449+6575del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827715	GGGCTGAC others(425): Show GGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGG GCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGC TGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTG ACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGAC CACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCA CTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGA GTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGC GGGGGCATCACCACCTACCGCTGCGCCCACTGA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0068 a0002c0005t0001g0068	1	200	0.0050	-432	c.449 others(17): Show c.449+6125_449+6556del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827780	CGGGCATC others(425): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGG GGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGG CATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCAC CACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCA GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTA CTGCTGTGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	200	0.0050	-432	c.449 others(17): Show c.449+6060_449+6491del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827840	CCTACCGC others(425): Show CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTG TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCC CACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0030 a0001c0006t0008g0030	1	200	0.0050	-432	c.449 others(17): Show c.449+6000_449+6431del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ZBED4_chr22_49848844_49895080	49849103	CCCGGGGA others(425): Show CCCGGGGACAGTGCGCGTCCCCTCGCCCGCGGCGCCCGCCCTGCCCGTCC CACCGAGGTCCCCCGGGAGCGTCTGGGCCCACGGCTTCGGGGGGTTTCTC CGAGACCTGGGCGCTGTTCTGGGGGAGCAGGGGCCCGGGCCACCAAGGTT CGTGCGGACCGTGGGGTGTCCCACGCCCAGGCCGGGGGATCCCAGAGCCC CGCTTCCCTCAAGGGCGCCGCGCCCCGGACTGCAGGTGGAGACGGGGACC GGCCCCGCGGGGTCGCCGACAGGCGCGGGGCGGGACAGGGTGGGAGGCGG CGGGGCGCAGAGTCCTCCGGTCGCCGGCGCGATCCGGGCACCTTCCTGGA GGCGGCGGGAGCGCGGTCGCGGCGCCTCCGGGGTGGGGTCCAGGTTGGAG GCTCCGGGGCGCACCGCCCTAGCCCCACCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0218 a0002c0002t0007g0218	1	316	0.0032	-432	c.-52 others(11): Show c.-5215_-4784del		ZBED4	ENSG00000100426.7	transcript	ENST00000216268.6	protein_coding					4740		chr22	TogoVar
ZNF407_chr18_74592870_75070671	74915722	CTGGTATG others(425): Show CTGGTATGGTGAGGTTGTATGCAGCATTGGTTCGAATCGGGAGTGTGTGT GTGTATGTGTGTGTGTACATGTGTGTGCTGGTATGGTGAAGTTGTGTGAA GCATTGGTTCGAATCGGGAGTGTGTGGGTGTGTGCATGTGTGTGCTGGTA TGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTGTGTGTGTGT GCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGTATTGGTTCGA ATCGGGAGTGTGTGTGTGTGTGTGTGCATGTGTGTGCTGGTATGGAGAGG TTGTGTGCAGCATTGGTTCGAATTGGGAGTGTGTGTGTGTGTGCGTGCAT GTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAG TGTGTGTGTGTGTGTGTGTGCATGCATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0040 a0002c0004t0005g0040	1	92	0.0109	-432	c.525 others(19): Show c.5250-4791_5250-4360del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8						chr18	TogoVar
ZNF407_chr18_74592870_75070671	74915980	TGTGTGTG others(425): Show TGTGTGTGTGTGTGTGTGCATGTGTGTGCTGGTATGGAGAGGTTGTGTGC AGCATTGGTTCGAATTGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGTGC TGGTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTGTGTG TGTGTGTGTGTGCATGCATGTGTGTGCTGGTATGGTGAGGTTGTATGCAG CATTGGTTCGAATCGGGAGTGTGTGTGTGTATGTGTGTGTGTACATGTGT GTGCTGGTATGGTGAAGTTGTGTGAAGCATTGGTTCGAATCGGGAGTGTG TGTGTGTGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGG TTCGAATCGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGTGCTGGTATGG TGAGGTTGTGTGCAGTATTGGTTCGAATCGGGA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01952.hp2 HG02486.hp2 others(4): Show HG01358.hp2 HG01952.hp2 HG02486.hp2 HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1	a0001 a0012 a0013 a0001 a0012 a0013	a0001c0003 a0001c0011 a0001c0014 others(2): Show a0001c0003 a0001c0011 a0001c0014 a0012c0031 a0013c0030	a0001c0003t0002 a0001c0011t0002 a0001c0011t0007 others(3): Show a0001c0003t0002 a0001c0011t0002 a0001c0011t0007 a0001c0014t0008 a0012c0031t0002 a0013c0030t0002	a0001c0003t0002g0001 a0001c0011t0002g0045 a0001c0011t0002g0076 others(4): Show a0001c0003t0002g0001 a0001c0011t0002g0045 a0001c0011t0002g0076 a0001c0011t0007g0088 a0001c0014t0008g0029 a0012c0031t0002g0020 a0013c0030t0002g0031	7	92	0.0761	-432	c.525 others(19): Show c.5250-4497_5250-4066del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
CUX1_chr7_101811007_102288958	102084327	AATATAGG others(424): Show AATATAGGTGACCTCTTAATGCTCACCTATTAGCTCTAGAAATTTTTTTG AAGTTTTCTTGAATTGTCCATATGCCCTTGAAGACAATATATACTTTTTT CTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCTGGCTGGAGT GCAGTGGCACAATCTTGGCTCAGTGCAACCTCCGCCTTCTGGGTTTAAGC AATTCCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCAC CACGCCTGGCTAATTTTTTTGGATTTTTAGTGGAGACGGGGTTTCAGCAT CTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTACCCGCCTTGG CCTCCCAAAGTACTGGGATTACAGGTGTGAGCCAACGCACCCGGCCACAA TATATACTTTATTGATGTTGGATGGAATGTTC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(3): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002	a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0002t0001g0034 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0002t0001g0034 a0002c0003t0002g0010 a0002c0004t0001g0113 a0002c0005t0002g0061	6	132	0.0455	-431	c.302 others(19): Show c.302-13036_302-12606del		CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	4/22						chr7	TogoVar
CUX1_chr7_101812626_102263233	102084327	AATATAGG others(424): Show AATATAGGTGACCTCTTAATGCTCACCTATTAGCTCTAGAAATTTTTTTG AAGTTTTCTTGAATTGTCCATATGCCCTTGAAGACAATATATACTTTTTT CTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCTGGCTGGAGT GCAGTGGCACAATCTTGGCTCAGTGCAACCTCCGCCTTCTGGGTTTAAGC AATTCCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCAC CACGCCTGGCTAATTTTTTTGGATTTTTAGTGGAGACGGGGTTTCAGCAT CTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTACCCGCCTTGG CCTCCCAAAGTACTGGGATTACAGGTGTGAGCCAACGCACCCGGCCACAA TATATACTTTATTGATGTTGGATGGAATGTTC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(3): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0010	a0001c0001t0022 a0001c0001t0056 a0001c0002t0001 others(3): Show a0001c0001t0022 a0001c0001t0056 a0001c0002t0001 a0001c0004t0007 a0001c0004t0055 a0005c0010t0038	a0001c0001t0022g0099 a0001c0001t0056g0113 a0001c0002t0001g0100 others(3): Show a0001c0001t0022g0099 a0001c0001t0056g0113 a0001c0002t0001g0100 a0001c0004t0007g0069 a0001c0004t0055g0087 a0005c0010t0038g0016	6	136	0.0441	-431	c.269 others(19): Show c.269-13036_269-12606del		CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	4/23						chr7	TogoVar
FLT4_chr5_180596506_180654600	180635278	GTGGATGG others(424): Show GTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGATGGATGCATGGAT GGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGG AAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTAT GGGTGGATGGGAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGG GTGGGTGGGTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGTATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0354 a0002c0002t0001g0354	1	388	0.0026	-431	c.59- others(15): Show c.59-3931_59-3501del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
GALNT9_chr12_132191372_132334589	132233118	TCCCCTAC others(424): Show TCCCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACAC ACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGTGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0003 a0001c0029t0003	a0001c0029t0003g0107 a0001c0029t0003g0107	1	183	0.0055	-431	c.107 others(21): Show c.1077+14361_1077+14791del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
PKP3_chr11_389209_409908	401166	GGCCCCGC others(424): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	216	0.0046	-431	c.173 others(17): Show c.1737+498_1737+928del		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)