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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LEPR_chr1_65415668_65646559	65613471	GGGCCGGG others(263): Show GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCAGT CCGCAGTCCGGCCTGGGCAAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02738.hp2 HG02630.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0035 a0002c0002t0020 a0002c0002t0035	a0002c0002t0020g0175 a0002c0002t0035g0037 a0002c0002t0020g0175 a0002c0002t0035g0037	2	216	0.0093	-270	c.199 others(19): Show c.1996-2536_1996-2267del	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	14/19			chr1	TogoVar
MLPH_chr2_237482251_237560322	237544180	GGGGGGAC others(263): Show GGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGA GTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTG AGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTCGGGGGACAGTGG TGAATGGGCACGGTAGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG02145.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0005 a0003c0003t0001 a0003c0003t0005	a0003c0003t0001g0267 a0003c0003t0005g0266 a0003c0003t0001g0267 a0003c0003t0005g0266	2	286	0.0070	-270	c.153 others(19): Show c.1539+1527_1539+1796del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP17_chr12_131823393_131856771	131856354	CTCTCTGT others(263): Show CTCTCTGTCTCTCTCCCTGTCTGTCTCTCCTTGTCTCTGCCTGTCTCTGT CTCTATATCTCTGTCTCTCCATCTGTCTCTCTCCCTGTCCCTGTCTCTCT CTGTCTCCCTCCCTGTCTCTGTCTCTCTGTCTCTATCTCTGTCTCTCTCC CTGACTCTCTCTCTCTGTGCCTCTCTGTCTCTGTCTCTCCTTGCCTCTGC CTCTCTGTCTCTATATCTCTGTCTCCCCATCTGTCTCTGTCTCTCTGTCT CTATCTCTGTCCCTCTCCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02818.hp1 others(4): Show HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0009 a0003c0030 others(1): Show a0001c0001 a0002c0009 a0003c0030 a0007c0015	a0001c0001t0002 a0002c0009t0001 a0003c0030t0001 others(1): Show a0001c0001t0002 a0002c0009t0001 a0003c0030t0001 a0007c0015t0001	a0001c0001t0002g0289 a0002c0009t0001g0085 a0002c0009t0001g0088 others(4): Show a0001c0001t0002g0289 a0002c0009t0001g0085 a0002c0009t0001g0088 a0002c0009t0001g0090 a0003c0030t0001g0057 a0007c0015t0001g0079 a0007c0015t0001g0082	7	398	0.0176	-270	c.50 others(11): Show c.5081_*5350del	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		4584		chr12	TogoVar
NDNF_chr4_121030613_121077535	121065371	TTACAAGG others(263): Show TTACAAGGTTGACACTAACAGAAGCTGAATATCTGTTCAGTACGATTTTA GAGGCAATGGGCAACCTTCGATTGTTTAAAAGAGTATCTTGTATCCTCCA CTTTACTGTAATTAAAAGACAAGCTTTTAAATGCAAATATTCACTGGGTC TAACCTTGCAAAGATAATTTCAAATGTCCTTTTCTAATTCCTGGACAGCT TCTGATAGTGTCAACCTTGTAAAGCAGAGGTCTCTAAAAGGGGGTGTCCT CTTTGCTTCATTGTGGGGCAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	354	0.0028	-270	c.-2+ others(15): Show c.-2+6352_-2+6621del	NDNF	ENSG00000173376.14	transcript	ENST00000379692.9	protein_coding	1/3			chr4	TogoVar
NKD2_chr5_1003802_1043943	1042747	GGTTAGTG others(263): Show GGTTAGTGTGTGAAGGAGTGGATGTGTGAACAAGTGGGTGAGTTAAGTGT GTGAATGAGTGGGTGTGTGAACGAGTGGGTGTGTGAATGAATGGGTGAGT TCGTGTGTGAATGAGTGGGTGTGTGAATGAGGGGTTTGTGAATGAGTGGG TGAGTTTGTGAACGAGTGGGCGAGTTAGTGGGTGAATGTGTGAATGAGTG GATGAGTTAGTGTGTGAACGAGTGGGTTAGTGTGAATGAGTGGGTGAGTT AGTGTGCAAATGAGTGGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0017 a0009c0013t0017	a0009c0013t0017g0098 a0009c0013t0017g0098	1	319	0.0031	-270	c.43 others(11): Show c.4375_*4644del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding		3805		chr5	TogoVar
NKX1-1_chr4_1397932_1411442	1398103	GGTAGATC others(263): Show GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02145.hp1 HG02148.hp1 others(6): Show HG01934.hp2 HG02145.hp1 HG02148.hp1 HG03139.hp2 NA18522.hp2 NA18974.hp1 NA18988.hp2 NA19000.hp2 NA20129.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0010 a0001c0001 a0002c0002 a0010c0010	a0001c0001t0000 a0002c0002t0000 a0010c0010t0000 a0001c0001t0000 a0002c0002t0000 a0010c0010t0000	a0001c0001t0000g0001 a0001c0001t0000g0007 a0002c0002t0000g0002 others(1): Show a0001c0001t0000g0001 a0001c0001t0000g0007 a0002c0002t0000g0002 a0010c0010t0000g0031	9	382	0.0236	-270	c.45 others(11): Show c.4559_*4828del	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4828		chr4	TogoVar
NMBR_chr6_142069484_142152122	142090352	ATAAATTA others(263): Show ATAAATTAAGCAACTTTTCCAGATATTGCCCACCAAGAGCACTGTCACAT CATAATTGAATTAGACAAGGTAAACATTTGCATTGTAATCAATTTTAAGT TTTATGTTTTCTAACTCAAAAGTCCTTATTGTACTCTTCTGGAATTTCAC TACTTAAAATAATTCATTATAAAATTAAGATTAGTTAAATAGAATATTTA TGTATAAATATATTTGAATATATAAATATTCTATTTATATTTATAAAAAT TATACACATATATAGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0286 a0002c0002t0002g0286	1	330	0.0030	-270	c.-66 others(19): Show c.-663-1301_-663-1032del	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3			chr6	TogoVar
OTUD7A_chr15_31470398_31875673	31511091	TACATATG others(263): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA CACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATACATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0023	1	244	0.0041	-270	c.894 others(17): Show c.894-7543_894-7274del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCMTD2_chr20_64250748_64281226	64270856	CGTGAGGT others(263): Show CGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAG GGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAG GAAGGGCACGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTC TGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTC CTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTAC AGTCCTTCTGAGGAAGGGCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp2 NA18945.hp1 others(4): Show HG00423.hp1 HG02071.hp2 NA18945.hp1 NA18965.hp1 NA18972.hp2 NA18991.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	7	332	0.0211	-270	c.707 others(17): Show c.707-2257_707-1988del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271091	TACGTACA others(263): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01255.hp1 others(12): Show HG00438.hp1 HG00673.hp2 HG01255.hp1 HG01928.hp2 HG01934.hp2 HG02132.hp2 HG04199.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA19009.hp2 NA19057.hp1 NA19081.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0130 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0130 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0018g0177	15	332	0.0452	-270	c.707 others(17): Show c.707-2076_707-1807del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271145	TACGTACA others(263): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	332	0.0030	-270	c.707 others(17): Show c.707-2022_707-1753del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271199	TACGTACA others(263): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02083.hp1 HG02486.hp1 others(5): Show HG00741.hp2 HG02083.hp1 HG02486.hp1 HG02622.hp2 HG03017.hp1 HG03491.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0086 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0086 a0001c0001t0001g0090	8	332	0.0241	-270	c.707 others(17): Show c.707-1970_707-1701del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDCD6_chr5_266646_319974	293384	TGGAGAAA others(263): Show TGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAAC GCCCGCGATACTGTCAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03831.hp2 HG02735.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0046 a0001c0002t0001g0028 a0001c0002t0001g0046	2	360	0.0056	-270	c.164 others(19): Show c.164-10703_164-10434del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	293474	TGGAGAAA others(263): Show TGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAAC GCCCGCGATACTGTCAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18975.hp1 HG03017.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0137 a0001c0002t0001g0026 a0001c0002t0001g0137	2	360	0.0056	-270	c.164 others(19): Show c.164-10419_164-10150del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(263): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0147 a0001c0001t0012g0147	1	254	0.0039	-270	c.292 others(19): Show c.292-24902_292-24633del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799049	GTGATGGT others(263): Show GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0128 a0001c0001t0085g0128	1	178	0.0056	-270	c.185 others(19): Show c.1855-4821_1855-4552del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKG1_chr10_51069487_52303350	51858152	TATAATAT others(263): Show TATAATATATATTATATATATACATATTATACATATATATAATATATATT ATATATATACATATTATACATATATATAATATATATTATATATAATACAT ATTATACATATATATAATATTATACATATGTATAATTATACATATGTATA ATATATATATGTATAATATGTATTATATATAATATATATATTATATAAAA TATATATATTATATATAATATATATAAAATATATATATAATATATATAAT ATATATAAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	64	0.0156	-270	c.699 others(19): Show c.699-49354_699-49085del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17			chr10	TogoVar
PTPRG_chr3_61556571_62302609	61680741	GTGGTACA others(263): Show GTGGTACAGGTTGCAGGGAGGTGGGGATGGGGATGACTAGGGTCACAGCA GGCAATAACTAGGGTTATTGGCACCCGGTTGGTGTTTGGTGCCTGCTGTG TAACTTGCTGGGTGTTGGGAACCTGTATATGGCATATGCCATGTGCACAG TGGGATGTGTTTAAAATGTGGGAGACAGGAGCTGTATGGAAATCATTATT TTCAAATGCGGTCATGGCTTTTAGGTTGTGAATTTTTGTTCCTTTCCAAA ACCGGTTTAGATGAGCAGCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(18): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG01071.hp2 HG01496.hp1 HG01496.hp2 HG02040.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03669.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0001c0008 others(5): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0002c0003 a0003c0004 a0003c0012 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0005t0001 a0001c0005t0009 a0001c0008t0005 a0002c0002t0002 a0002c0003t0008 a0003c0004t0001 a0003c0012t0012 a0005c0011t0002	a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0042 others(18): Show a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0003g0015 a0001c0001t0006g0037 a0001c0005t0001g0014 a0001c0005t0009g0022 a0001c0008t0005g0068 a0002c0002t0002g0092 a0002c0003t0008g0019 a0003c0004t0001g0002 a0003c0012t0012g0049 a0005c0011t0002g0080	21	94	0.2234	-270	c.86- others(17): Show c.86-68134_86-67865del	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
R3HCC1L_chr10_98129657_98249897	98152472	GCCTCTTC others(263): Show GCCTCTTCCCGGCCGCCATCCCGTCTAGGAAGTGAGGAGCGTCTCTGCCC GGCCGCCCAGTCTGGGAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCG TCTAGGAAGTGAGGAGCGTCTCTGCCCAGCCGCCCATAGTCTGAGATGCG GGGAGCGCCTCTGCCCCGCCACCCCGTCTGGGATGTGAGGAGCGCCTCTG CCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCTGGGCCGCC CCGTCTGAGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(101): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0007 a0008 others(3): Show a0002 a0007 a0008 a0009 a0015 a0024	a0002c0002 a0007c0006 a0008c0014 others(3): Show a0002c0002 a0007c0006 a0008c0014 a0009c0009 a0015c0025 a0024c0027	a0002c0002t0001 a0002c0002t0009 a0007c0006t0001 others(4): Show a0002c0002t0001 a0002c0002t0009 a0007c0006t0001 a0008c0014t0001 a0009c0009t0001 a0015c0025t0001 a0024c0027t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(84): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0234 a0002c0002t0001g0280 a0002c0002t0009g0093 a0007c0006t0001g0001 a0007c0006t0001g0081 a0008c0014t0001g0070 a0008c0014t0001g0103 a0009c0009t0001g0090 a0009c0009t0001g0091 a0015c0025t0001g0210 a0024c0027t0001g0076	104	388	0.2680	-270	c.-26 others(19): Show c.-267-3616_-267-3347del	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
RABL6_chr9_136802948_136846187	136803010	CTGGGGGC others(263): Show CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18955.hp2 HG04115.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0255 a0001c0003t0001g0002 a0001c0001t0001g0255 a0001c0003t0001g0002	2	330	0.0061	-270	c.-51 others(11): Show c.-5186_-4917del	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4937		chr9	TogoVar
RASA3_chr13_113972783_114137623	114083662	ACGGGGAA others(263): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01943.hp2 HG02300.hp1 others(2): Show HG00733.hp1 HG01943.hp2 HG02300.hp1 HG03490.hp1 NA18945.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0003c0008t0002	a0001c0001t0001g0059 a0001c0001t0006g0011 a0001c0002t0002g0057 others(2): Show a0001c0001t0001g0059 a0001c0001t0006g0011 a0001c0002t0002g0057 a0001c0002t0002g0061 a0003c0008t0002g0006	5	67	0.0746	-270	c.56- others(16): Show c.56-10095_56-9826del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114083770	ACGGGGAA others(263): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	67	0.0149	-270	c.56- others(16): Show c.56-10203_56-9934del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114084023	GTCCTCGC others(263): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	67	0.0149	-270	c.56- others(17): Show c.56-10456_56-10187del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085103	GTCCTCGC others(263): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01943.hp2 NA18945.hp1 HG00733.hp1 HG01943.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0059 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0001t0001g0059 a0001c0002t0002g0057 a0001c0002t0002g0061	3	67	0.0448	-270	c.56- others(17): Show c.56-11536_56-11267del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085427	CTCCTCGC others(263): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	67	0.0149	-270	c.56- others(17): Show c.56-11860_56-11591del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086075	GTCCTCGC others(263): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	67	0.0149	-270	c.56- others(17): Show c.56-12508_56-12239del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086524	CCGGGGAA others(263): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18522.hp1 HG04228.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0008 a0001c0001t0001g0043	2	67	0.0299	-270	c.56- others(17): Show c.56-12957_56-12688del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086777	CTCCTCGC others(263): Show CTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	67	0.0149	-270	c.56- others(17): Show c.56-13210_56-12941del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RGPD4_chr2_107821892_107897544	107828766	ATCATGGC others(263): Show ATCATGGCTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGC GGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CCGACCGGCGCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACC CGGCCCCGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCCGGCCCGGCG GCGGCCTCGATGGCTCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0005 a0005	a0005c0044 a0005c0044	a0005c0044t0004 a0005c0044t0004	a0005c0044t0004g0335 a0005c0044t0004g0335	1	374	0.0027	-270	c.72+ others(15): Show c.72+1692_72+1961del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF223_chr1_1065967_1079306	1078411	GGGGAGGC others(263): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	2	324	0.0062	-270	c.-46 others(11): Show c.-4675_-4406del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4106		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078740	GGGGGAGG others(263): Show GGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCT GAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGG GGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA20300.hp2 HG02630.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0044 a0001c0001t0007g0012 a0001c0001t0007g0044	2	324	0.0062	-270	c.-50 others(11): Show c.-5004_-4735del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4435		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079015	AGGCTGAG others(263): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0007g0012 a0001c0001t0001g0011 a0001c0001t0007g0012	2	324	0.0062	-270	c.-52 others(11): Show c.-5279_-5010del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4710		chr1	TogoVar
RPH3AL_chr17_207389_357807	220309	GCCCAAGC others(263): Show GCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCA AGCACATCAGCTCTGAGTCCTCCACTCACTGAGACAATAGACCCAAGCAC AACAGCTCGGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAACAG CTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTG AGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCC TCCACTCACTGAGACAATAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0120 a0001c0001t0006g0072 a0001c0001t0006g0120	2	133	0.0150	-270	c.614 others(15): Show c.614-843_614-574del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	220905	ACAGCTCT others(263): Show ACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGC TCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGA GGCCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCCTCCACT TGGTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAATAGACCCAAGCACAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(47): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18959.hp1 NA18963.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0015 a0002c0005 a0003c0011 a0006c0009 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0003t0030 a0001c0003t0036 a0001c0004t0001 a0001c0004t0026 a0001c0006t0004 a0001c0008t0001 a0001c0015t0007 a0002c0005t0005 a0002c0005t0023 a0003c0011t0001 a0006c0009t0001 a0007c0014t0018	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(47): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0003g0034 a0001c0001t0004g0008 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0006g0095 a0001c0001t0006g0105 a0001c0001t0007g0032 a0001c0001t0012g0006 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0031g0067 a0001c0001t0032g0004 a0001c0001t0034g0018 a0001c0001t0037g0058 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0003g0033 a0001c0002t0003g0090 a0001c0002t0006g0060 a0001c0002t0007g0112 a0001c0003t0001g0068 a0001c0003t0001g0075 a0001c0003t0030g0122 a0001c0003t0036g0064 a0001c0004t0001g0050 a0001c0004t0001g0078 a0001c0004t0026g0013 a0001c0006t0004g0022 a0001c0008t0001g0044 a0001c0015t0007g0026 a0002c0005t0005g0035 a0002c0005t0023g0125 a0003c0011t0001g0016 a0006c0009t0001g0054 a0007c0014t0018g0102	50	133	0.3759	-270	c.614 others(17): Show c.614-1439_614-1170del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	286993	CCTCTCTC others(263): Show CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGACAGACCTCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	133	0.0075	-270	c.352 others(17): Show c.352-5409_352-5140del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744511	TTACGAGC others(263): Show TTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0051 a0001c0025t0051	a0001c0025t0051g0174 a0001c0025t0051g0174	1	196	0.0051	-270	c.655 others(17): Show c.655-9495_655-9226del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744577	CCCTGGCT others(263): Show CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC AGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0055 a0001c0042t0055	a0001c0042t0055g0179 a0001c0042t0055g0179	1	196	0.0051	-270	c.655 others(17): Show c.655-9405_655-9136del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEMA5A_chr5_9030033_9551075	9400498	TACATTTT others(263): Show TACATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(54): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02040.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18991.hp1 NA18991.hp2 NA19012.hp1 NA19068.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0016 a0001c0017 a0001c0023 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0054 a0001c0001t0056 a0001c0001t0064 a0001c0001t0066 a0001c0001t0077 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0047 a0001c0002t0082 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 a0001c0003t0019 a0001c0003t0041 a0001c0003t0072 a0001c0003t0080 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0062 a0001c0004t0069 a0001c0005t0001 a0001c0005t0007 a0001c0005t0042 a0001c0005t0052 a0001c0006t0007 a0001c0006t0043 a0001c0006t0044 a0001c0007t0034 a0001c0008t0001 a0001c0010t0075 a0001c0016t0038 a0001c0017t0074 a0001c0023t0018 a0005c0012t0029	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 others(54): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0002g0131 a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0013g0056 a0001c0001t0016g0090 a0001c0001t0017g0091 a0001c0001t0018g0098 a0001c0001t0019g0118 a0001c0001t0030g0032 a0001c0001t0032g0067 a0001c0001t0035g0059 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0001t0064g0127 a0001c0001t0066g0106 a0001c0001t0077g0101 a0001c0002t0001g0069 a0001c0002t0004g0034 a0001c0002t0009g0003 a0001c0002t0047g0053 a0001c0002t0082g0134 a0001c0003t0001g0027 a0001c0003t0002g0102 a0001c0003t0005g0021 a0001c0003t0012g0068 a0001c0003t0019g0104 a0001c0003t0041g0016 a0001c0003t0072g0124 a0001c0003t0080g0132 a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0001g0039 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0005g0050 a0001c0004t0010g0049 a0001c0004t0062g0114 a0001c0004t0069g0103 a0001c0005t0001g0051 a0001c0005t0001g0054 a0001c0005t0007g0086 a0001c0005t0042g0070 a0001c0005t0052g0097 a0001c0006t0007g0088 a0001c0006t0043g0007 a0001c0006t0044g0009 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0010t0075g0107 a0001c0016t0038g0037 a0001c0017t0074g0105 a0001c0023t0018g0110 a0005c0012t0029g0055	57	134	0.4254	-270	c.-77 others(19): Show c.-77-20745_-77-20476del	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SFTPB_chr2_85652314_85673199	85666223	GTGTGTGT others(263): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGT GGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCT GGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGT GTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTG TTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTT GTGTCTGGCCGGCTTGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG00733.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	2	426	0.0047	-270	c.393 others(15): Show c.393+124_393+393del	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79919815	ACGGGAAC others(263): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGT CAAGGTCAGTGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0013 a0001c0001t0024g0013	1	352	0.0028	-270	c.392 others(15): Show c.392-685_392-416del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921572	GACAGGAA others(263): Show GACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGT CAGGGTCAGAGGAGGAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0147 a0001c0001t0006g0147	1	352	0.0028	-270	c.392 others(17): Show c.392-2442_392-2173del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SNED1_chr2_240993618_241100568	241052533	AGGGCCCA others(263): Show AGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CAGGGGGCCAAGCAGGATATATGGGATACCAGTGCCAGGCAGGTGAGAGG GCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGCCAGGCAGGTGAGA GGGTCGGCGGGGGGGGGGGGGGTCAAGCAGGGTACATGGGATACCAGTGC CAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGATGCTGGT GTCAGGCAGGTAAGGCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0259 a0002c0003t0008g0259	1	344	0.0029	-270	c.208 others(16): Show c.2083+90_2084-326del	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPPL2B_chr19_2323684_2360095	2348128	CACTCACG others(263): Show CACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCCACACACACTCGC GCTCTCATTCGCTTGATTCCGTTCTCTCTCCACACACACACACTCTCATT CGCCTGATTCCGTTCTCTCTCCACACACACTCACGCACTCTTATTCGCCT GATTCCGTTCTCTCCCTCCACACACACACTCGCGCTCTCATTCGCTTGAT GCGGTTCTCTCTCCACACACACACTCACGCGCTCTCATTTGCCTGATTCC GTTCTCTCCCTCCACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	414	0.0048	-270	c.135 others(19): Show c.1354+2807_1355-3028del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAPPC9_chr8_139722725_140462744	139997777	GTGCATCC others(263): Show GTGCATCCTACACAGGGAGACAATGCATCCTACACAGGGAGACAATGCAT CCCACACAGGGAGACAATGCATCCCACACAGGAGAGACAATGCATCCCAC ACAGGGGAGACAATGCATCCCACACAGGGGAGACAATGCATCCCACACAG GGGATACAATGCATCCCACACAGGGAGACAATGCATCCTACACAGGGGAG ACAATGCATCCCACACAGGGGAGACAATGCATCCTACACAGGGAGACAAT GCATCCTACACAGGTAGACAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	98	0.0102	-270	c.270 others(19): Show c.2700-9211_2700-8942del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	18/22			chr8	TogoVar
WDR81_chr17_1719704_1743585	1740099	AGCAGGAC others(263): Show AGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGG GTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0005 a0001c0007t0001g0005	1	431	0.0023	-270	c.24 others(11): Show c.2415_*2684del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1515		chr17	TogoVar
ZNF511_chr10_133303914_133318161	133317300	CCCAGACA others(263): Show CCCAGACACACAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGA AAGACCACACCCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCC CCCCAGGACACAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACA GAGATGGAAAGACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGA CCACACCCCCCACACACACAGAGATGGAAAGACCACACCCCCCCCAGACA CAGAGATGGAAAGACCACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	282	0.0036	-270	c.44 others(11): Show c.4435_*4704del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4140		chr10	TogoVar
ACAP3_chr1_1287391_1312930	1289785	CCCCGTGT others(262): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	295	0.0034	-269	c.35 others(11): Show c.3510_*3778del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6152282	TTTTTTTT others(262): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03669.hp1 HG03834.hp2 others(3): Show HG01071.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18747.hp1 NA19012.hp2	a0003 a0004 a0003 a0004	a0003c0012 a0004c0003 a0003c0012 a0004c0003	a0003c0012t0002 a0004c0003t0001 a0003c0012t0002 a0004c0003t0001	a0003c0012t0002g0046 a0004c0003t0001g0043 a0004c0003t0001g0044 others(3): Show a0003c0012t0002g0046 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0049	6	262	0.0229	-269	c.386 others(15): Show c.386+508_386+776del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADARB2_chr10_1172313_1742525	1541009	TCACAGCC others(262): Show TCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAG CCGCCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCACAGCCGTCC AGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACCC CACTCACACTCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCA GACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCA GTTCAGACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	-269	c.101 others(21): Show c.101-162118_101-161850del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541053	TCACAGCC others(262): Show TCACAGCCGCCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCACAG CCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCC AGACCCCACTCACACTCAGTTCAGACCCTGGATCACAGCCGCCCAGACCC CACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCA GACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCA GTTCAGACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-269	c.101 others(21): Show c.101-162162_101-161894del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)