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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAP1GAP2_chr17_2791438_3042741	3001233	CAGAAGAA others(389): Show CAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGG TGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAC AGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGT GGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACA GAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTG GAGGTAACAAGATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAG AAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGG AGGTAACAAGATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG02015.hp2 others(13): Show HG00099.hp1 HG00735.hp2 HG02015.hp2 HG02040.hp2 HG02683.hp1 HG02698.hp2 HG03239.hp1 HG03486.hp1 HG04199.hp2 NA18944.hp2 NA18947.hp2 NA18966.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0024 others(2): Show a0001c0001 a0001c0004 a0001c0024 a0002c0006 a0002c0008	a0001c0001t0019 a0001c0001t0023 a0001c0001t0125 others(13): Show a0001c0001t0019 a0001c0001t0023 a0001c0001t0125 a0001c0004t0005 a0001c0004t0011 a0001c0004t0020 a0001c0004t0064 a0001c0004t0093 a0001c0004t0132 a0001c0024t0051 a0002c0006t0014 a0002c0006t0031 a0002c0006t0035 a0002c0006t0059 a0002c0006t0073 a0002c0008t0100	a0001c0001t0019g0043 a0001c0001t0023g0047 a0001c0001t0125g0037 others(13): Show a0001c0001t0019g0043 a0001c0001t0023g0047 a0001c0001t0125g0037 a0001c0004t0005g0208 a0001c0004t0011g0112 a0001c0004t0020g0104 a0001c0004t0064g0151 a0001c0004t0093g0032 a0001c0004t0132g0034 a0001c0024t0051g0052 a0002c0006t0014g0166 a0002c0006t0031g0173 a0002c0006t0035g0035 a0002c0006t0059g0077 a0002c0006t0073g0119 a0002c0008t0100g0061	16	218	0.0734	-396	c.120 others(19): Show c.1200+2874_1200+3269del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743687	TAGCACAG others(389): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGG CTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0102 a0001c0003t0014g0102	1	196	0.0051	-396	c.655 others(18): Show c.655-10309_655-9914del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743857	CCCTGGCT others(389): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTA GCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0065 a0001c0021t0065	a0001c0021t0065g0112 a0001c0021t0065g0112	1	196	0.0051	-396	c.655 others(18): Show c.655-10129_655-9734del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744001	CCCTGGTT others(389): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0092 a0005c0092	a0005c0092t0012 a0005c0092t0012	a0005c0092t0012g0163 a0005c0092t0012g0163	1	196	0.0051	-396	c.655 others(18): Show c.655-10003_655-9608del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744479	TAGCACAG others(389): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0019 a0001c0028t0019	a0001c0028t0019g0024 a0001c0028t0019g0024	1	196	0.0051	-396	c.655 others(17): Show c.655-9499_655-9104del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744556	CTGTCCTG others(389): Show CTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACT AGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGT TACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCC TGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACT GTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAG CACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTA CTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTG GCTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0083 a0001c0009t0006 a0001c0005t0083 a0001c0009t0006	a0001c0005t0083g0017 a0001c0009t0006g0142 a0001c0005t0083g0017 a0001c0009t0006g0142	2	196	0.0102	-396	c.655 others(17): Show c.655-9453_655-9058del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668552	TCCCTCTC others(389): Show TCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCT ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTC CCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCC TCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCC TCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	262	0.0038	-396	c.249 others(19): Show c.2495+1636_2496-1683del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288791	TCCCCCGT others(389): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	290	0.0035	-396	c.166 others(18): Show c.1662+758_1663-1081del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM14_chr4_39541336_39643865	39553306	ACCTGCCT others(389): Show ACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTG CCCAGCCCACTGTAATGATTTCTAAGTCAGGTTATTAAGAGTTCTATTTC TTTAGCTCCAAACATTGAGGAATTTACTCTTTGATATGAAAGTAACAAAG CTATACAAAGAAAGTAAGAAAGAAGGCTAAGGAATAAACACTTTATCAAG ACAATATGCAAGCTGTTTTATAAATACTCTCTTCTCCAAGAAAAAATAAA AATAAATGTAAGGCTTTTTATATAGTGCTAATAATGCCGGTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCG CCATCTCAGCTCACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0261 a0001c0001t0007g0261	1	344	0.0029	-396	c.268 others(17): Show c.268-1544_268-1149del	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	4/4			chr4	TogoVar
TMEM131_chr2_97751336_98000948	97768844	GCCTCCCA others(389): Show GCCTCCCAAAGTGCTGGGATTACAGTGGGATTACAGGTGTGAGCCACCGT GCCCAGACTGAAGTGATTCTTTTTAAAAAGGAAAAACAGGTGGTTCAGAT GCCAGGCTTTATTTATTTATTTACTGACAGGGTCTCAGTCTGTTGCTCAG GCTAGAGTGCAGTGGTGCAATCACGGCTCTCTGCAGTCTCTAACTCCTGG GCTCAACTCCTGAGTCTCTAACTCCTGGGCTCTATGCAGTCTCTAACTCC TGCCTCAGCCTCCCTAGTAGTTGGGACTACAGGTGTGTGCCATCACACCT GGCTAATTTAAAAGAAAAACTTTTTGTAAGATAAGGTCTTGCTATATTTT CCAGGCTGATCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01257.hp2 HG01943.hp2 others(30): Show HG00544.hp1 HG01257.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 NA18612.hp1 NA18949.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA19085.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0028 a0001c0002 a0013c0028	a0001c0002t0001 a0001c0002t0010 a0013c0028t0001 a0001c0002t0001 a0001c0002t0010 a0013c0028t0001	a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0210 others(30): Show a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0277 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0010g0243 a0013c0028t0001g0246	33	284	0.1162	-396	c.444 others(19): Show c.4449-2638_4449-2243del	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	33/40			chr2	TogoVar
TRIP13_chr5_887884_923120	898467	TCAGTCAG others(389): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01934.hp1 HG01975.hp2 others(11): Show HG01167.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp1 NA18612.hp1 NA18950.hp1 NA18968.hp2 NA18980.hp2 NA18990.hp1 NA19009.hp1 NA19060.hp1 NA19086.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0204 a0001c0001t0001g0205	14	402	0.0348	-396	c.388 others(17): Show c.388+1805_389-1500del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZCCHC2_chr18_62518025_62583579	62580726	TGGTGTCA others(389): Show TGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGT CACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGC GCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTG GAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGC GAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTG GACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCC TCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02976.hp2 HG03139.hp1 HG02257.hp1 HG02976.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0013 a0001c0006 a0002c0013	a0001c0006t0006 a0002c0013t0006 a0001c0006t0006 a0002c0013t0006	a0001c0006t0006g0214 a0002c0013t0006g0208 a0002c0013t0006g0209 a0001c0006t0006g0214 a0002c0013t0006g0208 a0002c0013t0006g0209	3	312	0.0096	-396	c.41 others(11): Show c.4148_*4543del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2148		chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392979	AGGCAGGT others(389): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0140 a0001c0001t0009g0140	1	346	0.0029	-396	c.181 others(21): Show c.1811-13072_1811-12677del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(388): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0206 a0001c0004t0002g0206	1	406	0.0025	-395	c.806 others(15): Show c.806+253_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
CFAP74_chr1_1916957_2008786	1935189	GTGGGTAC others(388): Show GTGGGTACACACGTGTACGTGGGTGTTGTAGGTACACACGTGTGTACGTG GGTGTTAGGCTGTAAGTACACACGTGTGTATGTGGGTGTTAGGTTGTAGG TACACAGGTGTATACGTGGGTGTTAGGTTGTAGGTACACAGGTGTGTACG TGGGTGTTAGGTTGTAGGTACACACGTGTGTATGTGGGTGTTAGGTTATA GGTACACACGTCTGTATGTGTGGGTGTTAGGTTGTAGGTACACACGTGTG TACGTGGGTGTTAGGTTGTAGGTACACAGGTGTGTGCGCGCTAGGTTGTA GGTACACATGTGTGCACGTGGGTTAGGTTGTAGGTACACACGTGTGTACC TGTTAGGTTGTAGGTATACACGTGTGTACGTGTGTGTGTTAGGTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(145): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(30): Show a0001 a0002 a0008 a0010 a0012 a0013 a0015 a0016 a0017 a0019 a0020 a0021 a0023 a0029 a0030 a0033 a0034 a0036 a0037 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0053 a0054 a0055 a0057 a0062 a0065 a0066	a0001c0001 a0001c0006 a0001c0020 others(49): Show a0001c0001 a0001c0006 a0001c0020 a0001c0022 a0001c0055 a0001c0081 a0002c0004 a0002c0005 a0002c0008 a0002c0047 a0002c0056 a0002c0057 a0002c0074 a0002c0076 a0002c0084 a0002c0089 a0008c0009 a0008c0073 a0010c0025 a0010c0067 a0010c0069 a0012c0014 a0013c0018 a0015c0017 a0016c0024 a0016c0061 a0017c0030 a0017c0096 a0019c0026 a0020c0028 a0021c0033 a0023c0035 a0029c0075 a0030c0043 a0033c0100 a0034c0038 a0036c0054 a0037c0087 a0039c0048 a0040c0082 a0041c0079 a0042c0080 a0043c0088 a0044c0078 a0045c0052 a0053c0064 a0054c0065 a0055c0097 a0057c0091 a0062c0094 a0065c0099 a0066c0098	a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 others(50): Show a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 a0001c0022t0001 a0001c0055t0001 a0001c0081t0001 a0002c0004t0002 a0002c0005t0002 a0002c0008t0002 a0002c0008t0006 a0002c0047t0009 a0002c0056t0002 a0002c0057t0002 a0002c0074t0002 a0002c0076t0002 a0002c0084t0002 a0002c0089t0002 a0008c0009t0001 a0008c0073t0001 a0010c0025t0001 a0010c0067t0001 a0010c0069t0001 a0012c0014t0001 a0013c0018t0001 a0015c0017t0002 a0016c0024t0002 a0016c0061t0002 a0017c0030t0001 a0017c0096t0001 a0019c0026t0002 a0020c0028t0002 a0021c0033t0001 a0023c0035t0002 a0029c0075t0001 a0030c0043t0002 a0033c0100t0002 a0034c0038t0004 a0036c0054t0002 a0037c0087t0001 a0039c0048t0001 a0040c0082t0001 a0041c0079t0001 a0042c0080t0001 a0043c0088t0001 a0044c0078t0001 a0045c0052t0002 a0053c0064t0001 a0054c0065t0001 a0055c0097t0002 a0057c0091t0005 a0062c0094t0001 a0065c0099t0002 a0066c0098t0002	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 others(145): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 a0001c0006t0001g0094 a0001c0006t0001g0115 a0001c0006t0001g0160 a0001c0006t0001g0188 a0001c0006t0001g0243 a0001c0006t0001g0250 a0001c0020t0001g0130 a0001c0020t0001g0131 a0001c0020t0001g0133 a0001c0022t0001g0016 a0001c0022t0001g0117 a0001c0022t0001g0234 a0001c0055t0001g0230 a0001c0081t0001g0196 a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0058 a0002c0004t0002g0065 a0002c0004t0002g0070 a0002c0004t0002g0074 a0002c0004t0002g0079 a0002c0004t0002g0146 a0002c0004t0002g0227 a0002c0004t0002g0245 a0002c0004t0002g0258 a0002c0004t0002g0260 a0002c0004t0002g0266 a0002c0005t0002g0017 a0002c0005t0002g0029 a0002c0005t0002g0061 a0002c0005t0002g0067 a0002c0005t0002g0078 a0002c0005t0002g0082 a0002c0005t0002g0120 a0002c0005t0002g0124 a0002c0005t0002g0212 a0002c0008t0002g0003 a0002c0008t0002g0054 a0002c0008t0002g0113 a0002c0008t0002g0114 a0002c0008t0002g0193 a0002c0008t0002g0211 a0002c0008t0006g0167 a0002c0047t0009g0271 a0002c0056t0002g0218 a0002c0057t0002g0060 a0002c0074t0002g0033 a0002c0076t0002g0069 a0002c0084t0002g0051 a0002c0089t0002g0101 a0008c0009t0001g0103 a0008c0009t0001g0107 a0008c0009t0001g0138 a0008c0009t0001g0149 a0008c0009t0001g0170 a0008c0009t0001g0206 a0008c0073t0001g0242 a0010c0025t0001g0010 a0010c0025t0001g0162 a0010c0025t0001g0277 a0010c0067t0001g0259 a0010c0069t0001g0071 a0012c0014t0001g0038 a0012c0014t0001g0039 a0012c0014t0001g0041 a0012c0014t0001g0042 a0012c0014t0001g0104 a0013c0018t0001g0023 a0013c0018t0001g0180 a0013c0018t0001g0181 a0013c0018t0001g0184 a0015c0017t0002g0026 a0015c0017t0002g0027 a0015c0017t0002g0073 a0015c0017t0002g0226 a0016c0024t0002g0004 a0016c0024t0002g0086 a0016c0024t0002g0126 a0016c0061t0002g0198 a0017c0030t0001g0045 a0017c0030t0001g0154 a0017c0096t0001g0049 a0019c0026t0002g0011 a0019c0026t0002g0110 a0020c0028t0002g0056 a0020c0028t0002g0249 a0021c0033t0001g0008 a0021c0033t0001g0009 a0023c0035t0002g0121 a0023c0035t0002g0147 a0029c0075t0001g0084 a0030c0043t0002g0275 a0033c0100t0002g0028 a0034c0038t0004g0252 a0036c0054t0002g0068 a0037c0087t0001g0197 a0039c0048t0001g0119 a0040c0082t0001g0185 a0041c0079t0001g0274 a0042c0080t0001g0241 a0043c0088t0001g0137 a0044c0078t0001g0132 a0045c0052t0002g0118 a0053c0064t0001g0055 a0054c0065t0001g0253 a0055c0097t0002g0085 a0057c0091t0005g0024 a0062c0094t0001g0018 a0065c0099t0002g0144 a0066c0098t0002g0173	148	278	0.5324	-395	c.301 others(19): Show c.3011+3271_3011+3665del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
COL18A1_chr21_45400165_45518720	45437117	ACACAGAC others(388): Show ACACAGACACACAGGCACTCTCCACACACACTCACACTCAGACACAGGCA CTCTCCTGCACACACACTCACACAGACACACAGGCACTCTCCTGCACACA CACACACAGACACACAGGCACTCTCCTGTACACACACACACTCACACACT CAGACACACAGGCACTCTCCTGCACACACACACACTCACACAGGCACTCT CCTGCACACACACACACTCAGACACACAGGCACTCTCCTGCGCACACACA CACACTCAGACACACAGGCACTCTCCTGCACACACACACTCACACTCAGA CACACAGGCACTCTCCTGCACACACACACTCACTCACAGACAGACACACA GGCACTCTCCTGCACACACTCACACTCACACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0019 a0019	a0019c0096 a0019c0096	a0019c0096t0015 a0019c0096t0015	a0019c0096t0015g0045 a0019c0096t0015g0045	1	292	0.0034	-395	c.107 others(19): Show c.107-31120_107-30726del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCC_chr18_52335197_53540899	53086161	TCTCTTCC others(388): Show TCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTC CTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01884.hp1 others(5): Show HG00735.hp2 HG01192.hp2 HG01884.hp1 HG02647.hp1 HG03098.hp1 HG03209.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0001c0005 a0002c0004 others(4): Show a0001c0003 a0001c0005 a0002c0004 a0002c0018 a0003c0006 a0003c0024 a0006c0019	a0001c0003t0003 a0001c0005t0007 a0002c0004t0014 others(4): Show a0001c0003t0003 a0001c0005t0007 a0002c0004t0014 a0002c0018t0004 a0003c0006t0009 a0003c0024t0009 a0006c0019t0005	a0001c0003t0003g0073 a0001c0005t0007g0108 a0001c0005t0007g0114 others(5): Show a0001c0003t0003g0073 a0001c0005t0007g0108 a0001c0005t0007g0114 a0002c0004t0014g0043 a0002c0018t0004g0071 a0003c0006t0009g0104 a0003c0024t0009g0002 a0006c0019t0005g0014	8	114	0.0702	-395	c.126 others(21): Show c.1261+19998_1261+20392del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DLGAP2_chr8_732628_1713476	1235569	CACATGGC others(388): Show CACATGGCACCATGTCTAGTTCTCTCACATGGTGCCGTGTCTACTTCTTT CTCACACATAGCATCATGTCTAGTTCTCTCTCACACAGAGCATCATGTCT AGTTCTCTCACATGGCGCCATGTCTAGTTCTCTCACATGGCGCCGTATCT AGTTCTCTCACATGGTGCCATATCTAGTTCTCTCTCACGCATAGCATCAT GTCTAGTTCTGTCTCACACAGAGCATCGTGTCTAGTTCTCTCACATGGCG CCGTGTCCAGTTCTGTCACATGGCTCCGTGTCTGGTTCTCTCACATGGCG CCGTGTCTAGTTCTCTGCCACATGGCGCCGTGTCTAGTTCTCTCACATGG CGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTACGTCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-395	c.74- others(17): Show c.74-23275_74-22881del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GABBR2_chr9_98283109_98713935	98514031	TAAGAAAA others(388): Show TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCTATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTTGTGGGGTAGGGGGAGGGGAGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACA CCAGCACGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAATAATAATAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00738.hp1 others(16): Show HG00099.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01106.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0029 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0023	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0002t0009 a0001c0002t0021 a0001c0003t0005 a0001c0003t0008 a0001c0003t0028 a0001c0005t0013 a0001c0007t0011 a0001c0029t0046 a0002c0006t0007 a0002c0008t0007 a0002c0009t0004 a0002c0009t0006 a0002c0010t0004 a0002c0023t0004	a0001c0001t0001g0138 a0001c0001t0015g0042 a0001c0002t0001g0127 others(16): Show a0001c0001t0001g0138 a0001c0001t0015g0042 a0001c0002t0001g0127 a0001c0002t0009g0130 a0001c0002t0021g0114 a0001c0003t0005g0123 a0001c0003t0008g0089 a0001c0003t0028g0058 a0001c0005t0013g0080 a0001c0005t0013g0081 a0001c0005t0013g0118 a0001c0007t0011g0052 a0001c0029t0046g0119 a0002c0006t0007g0006 a0002c0008t0007g0059 a0002c0009t0004g0113 a0002c0009t0006g0109 a0002c0010t0004g0082 a0002c0023t0004g0129	19	164	0.1159	-395	c.631 others(19): Show c.631-17912_631-17518del	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	3/18			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132817620	ACCTCCAC others(388): Show ACCTCCACGCTCTAAGGTGAACCCCCCCCCCACACCTCCACACTCTAAGG TGAACTCACCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCCCTCCACA CCTCCACGCTCTAAGGTGAACCCACCCTCCACACCTCCACGCTCTAAGGT GAACCCGCCCTCCACTCCTCCACGCTCTAAGGTGAACCCGCACTCCACAC CTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTG AACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCCCCACACC TCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGGTGA ACCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02886.hp2 others(2): Show HG02615.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 others(2): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0002c0007t0031	a0001c0001t0017g0015 a0001c0001t0028g0305 a0001c0001t0029g0304 others(2): Show a0001c0001t0017g0015 a0001c0001t0028g0305 a0001c0001t0029g0304 a0001c0001t0030g0303 a0002c0007t0031g0307	5	308	0.0162	-395	c.134 others(16): Show c.134-1203_134-809del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
KDF1_chr1_26944562_26965468	26961176	GAATGTCA others(388): Show GAATGTCAATAAGGCAAGGCTCAGACTATTCTGGGTTACTGTTCCCCTTA ATATTAATAACAACTCAATAACTTAACAATAGCATTAATAAACAAGTGAC TTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGAGGATCGCGAGGTGGGAGTTTGAGACCAGCCTGGCCAACATA GTGAAACCCAGTCTCTACTAAAAATACAAAAAATTAGCCTAGCATGGTAG CAAGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCT TGAACCCAGCAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACT CCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAATAAACAAAACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02559.hp1 others(8): Show HG01070.hp1 HG01071.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp1 NA18522.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0037 a0001c0005t0001g0009 a0001c0005t0001g0021 others(3): Show a0001c0001t0001g0037 a0001c0005t0001g0009 a0001c0005t0001g0021 a0001c0005t0001g0035 a0001c0005t0001g0062 a0001c0005t0001g0070	11	278	0.0396	-395	c.-12 others(10): Show c.-1254_-860del	KDF1	ENSG00000175707.10	transcript	ENST00000320567.6	protein_coding		709		chr1	TogoVar
MLPH_chr2_237482251_237560322	237544805	GGGGGACA others(388): Show GGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGT TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAG TCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTG AGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGG TGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAA TTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGCACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0141 a0001c0015t0008g0141	1	286	0.0035	-395	c.154 others(19): Show c.1540-1780_1540-1386del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MON2_chr12_62461826_62605476	62513692	ATCCCAGC others(388): Show ATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGGTCATGAGGTCAGGAGAT CGAGACCATCGTGGCTAACATGGTGAAACCCCATCTCTACTAAAAAATAC AAAAAAAAACTAGCCGAGCGTGGTGGCAGGCACTTGTAGTCCCAGCTACT GGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCA ATGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAC TCCATCTCAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAATGCCTTCTGCC AGTTACCCTAAATCATTTCTCCCAAGTTCAAAGTTCCACAAATCTCTAGG GCAGGGGCAAAACGCTGCCAGTCCCTTTGCTAAAACATAACAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00597.hp1 others(52): Show HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG03688.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18990.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA19090.hp2 NA20129.hp1	a0002 a0010 a0002 a0010	a0002c0001 a0010c0012 a0002c0001 a0010c0012	a0002c0001t0001 a0002c0001t0006 a0002c0001t0027 others(2): Show a0002c0001t0001 a0002c0001t0006 a0002c0001t0027 a0002c0001t0028 a0010c0012t0001	a0002c0001t0001g0002 a0002c0001t0001g0110 a0002c0001t0001g0142 others(51): Show a0002c0001t0001g0002 a0002c0001t0001g0110 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0182 a0002c0001t0001g0205 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0253 a0002c0001t0006g0185 a0002c0001t0027g0164 a0002c0001t0028g0181 a0010c0012t0001g0152	55	368	0.1495	-395	c.984 others(17): Show c.984+5215_984+5609del	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYOM2_chr8_2040046_2150456	2085497	TGTTGTGA others(388): Show TGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC ACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCC ACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGC GTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGAT CTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA	T T	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0050 a0050	a0050c0213 a0050c0213	a0050c0213t0005 a0050c0213t0005	a0050c0213t0005g0145 a0050c0213t0005g0145	1	403	0.0025	-395	c.164 others(17): Show c.1644+110_1644+504del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085511	CGTGGCCC others(388): Show CGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTC TGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02615.hp1 others(2): Show HG01934.hp1 HG02109.hp2 HG02615.hp1 HG02818.hp1 HG06807.hp1	a0002 a0026 a0075 a0002 a0026 a0075	a0002c0006 a0002c0015 a0026c0174 others(2): Show a0002c0006 a0002c0015 a0026c0174 a0026c0175 a0075c0099	a0002c0006t0001 a0002c0015t0001 a0026c0174t0001 others(2): Show a0002c0006t0001 a0002c0015t0001 a0026c0174t0001 a0026c0175t0001 a0075c0099t0001	a0002c0006t0001g0120 a0002c0015t0001g0136 a0026c0174t0001g0061 others(2): Show a0002c0006t0001g0120 a0002c0015t0001g0136 a0026c0174t0001g0061 a0026c0175t0001g0060 a0075c0099t0001g0397	5	403	0.0124	-395	c.164 others(17): Show c.1644+137_1644+531del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEPRO_chr3_112997444_113024671	113024276	CTGTAGGG others(388): Show CTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTG GGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAA GAAATAAGGGGACCCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCC AGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCGA AGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCA GACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAAAGGATTA AGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATGCTTTACA AAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCGTAAGGCGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01884.hp2 others(32): Show HG00735.hp1 HG00741.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18973.hp2 NA18974.hp1 NA18984.hp2 NA18993.hp1 NA19012.hp1 NA19055.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0007c0008 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0002c0002t0001 a0002c0002t0005 a0002c0002t0018 a0004c0004t0006 a0004c0004t0008 a0004c0004t0025 a0007c0008t0005 a0008c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0101 a0001c0001t0002g0001 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0015g0029 a0001c0001t0015g0088 a0002c0002t0001g0018 a0002c0002t0001g0112 a0002c0002t0005g0011 a0002c0002t0005g0090 a0002c0002t0018g0055 a0002c0002t0018g0104 a0004c0004t0006g0045 a0004c0004t0006g0047 a0004c0004t0008g0020 a0004c0004t0008g0092 a0004c0004t0025g0091 a0007c0008t0005g0127 a0007c0008t0005g0128 a0008c0009t0008g0046	35	454	0.0771	-395	c.-50 others(11): Show c.-5024_-4630del	NEPRO	ENSG00000163608.15	transcript	ENST00000314400.10	protein_coding		4606		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205263311	AATATATG others(388): Show AATATATGGAAGCAGCAAGGAACATAAGAGGAGGTCCAAGCAAAAGCAGT GGATAACAGTGCAAACAGGAACTATTTACTGAAAGTCCTTACTAAGGAGT TTCCCTTTATCATTTAAATAGCAAACAGAATGAACATTTTAAAGTAAAAT TCTGTCATTTCACTTCTTATAAACCTTCAATATGGAACAATTATATGACC ACATGCAAAAAGAAAAGAAAAAATAACCTCCGTCTATACCTTACACCATA TAAGAAGCTAATCTGACATGGTTCACAGATCTTAAATGTGAGCACTAAAA CTATAAAACTTCTAGAAAACAAATGGGAGAAATTTTAGTTACAGTGGGTT AAGCAGAACTTTTTAGAGCACTAAAACCAGGAAGTACAAAAAAATC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	54	0.0185	-395	c.218 others(21): Show c.2185+17491_2185+17885del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCGF3_chr4_700832_775089	746125	CGGGGGTC others(388): Show CGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0057 a0002c0002t0045g0057	1	366	0.0027	-395	c.462 others(17): Show c.462+1438_462+1832del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PREX2_chr8_67947046_68242032	68185703	TATTTTAT others(388): Show TATTTTATCCTATAGGGACTAAATGAAAGAAATAGTGTCATAATATATTT ATTTTACATGGCAGAGTTAACTGACGAAGTTATGACAGTGAGGCCTGCTG TATGCCAGCATGAAAGGAAACATACTCTGCAGCCCATATAAAATAGTAGC CATACTTTCAAAATGTCTTAATAAGATTTTCTATACTCAGACAAAGGACC ATGATGTCATTCTTACTAACCTCAGAAGCATAATAAAATATGGTTAGTTT TGGCATTCATCAAATTTTGCCATTAACTTTTCCCATAAAATTTGATTAAG GAGCATTGCAAGACTTTTTTAATTAAGGAAAGTGCTTTGGATATTTATGT CCTGTCCACAGTTTGTCAAATTCTGAAAGATACTGAAGTTCTTCAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG02615.hp1 others(11): Show HG01069.hp2 HG01109.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp2 HG03540.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0013 a0001c0019 a0004c0074	a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 others(11): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0003t0012 a0001c0003t0021 a0001c0009t0005 a0001c0009t0029 a0001c0011t0040 a0001c0013t0015 a0001c0019t0001 a0001c0019t0016 a0004c0074t0002	a0001c0001t0014g0013 a0001c0001t0015g0142 a0001c0001t0018g0189 others(11): Show a0001c0001t0014g0013 a0001c0001t0015g0142 a0001c0001t0018g0189 a0001c0001t0023g0083 a0001c0001t0026g0176 a0001c0003t0012g0147 a0001c0003t0021g0130 a0001c0009t0005g0004 a0001c0009t0029g0182 a0001c0011t0040g0071 a0001c0013t0015g0161 a0001c0019t0001g0160 a0001c0019t0016g0183 a0004c0074t0002g0001	14	190	0.0737	-395	c.434 others(19): Show c.4347-6016_4347-5622del	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	35/39		INFO_REALIGN_3_PRIME	chr8	TogoVar
PUS7_chr7_105451503_105527271	105513837	CAAAAAAA others(388): Show CAAAAAAAAAAAAAAAATAGTTATTATGGATGATTTACATAGCTGAACTG TATTGTTGTTATGTCTGGAGGAGTTTAAAAAAAGAAAAAAAGCTGGCTGG GCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGG TGGATCGCCAAGGCAGGCCGGATCACGAAGTCAGGAGATCGAAACCAACC TGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGC CGGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCGGTGAGCCGAGATTG TGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00735.hp2 others(28): Show HG00099.hp2 HG00423.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02630.hp1 HG02683.hp2 HG03491.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 others(28): Show a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0016g0311 a0001c0001t0017g0330	31	350	0.0886	-395	c.-32 others(17): Show c.-32-5688_-32-5294del	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
XXYLT1_chr3_195063284_195276159	195143889	TTTATTTT others(388): Show TTTATTTTTTATTTTTATTTTTTTTTTGAGATGGACTCTTGCTGTCATCC AGGCTGGAGTGCAAGGGCGAGATCTTGGCTCACTGCAACCTCTGCTTCCA GGTTCAAGCAATTCTCCTGCTCAGACTCCCAAGTAGCTGGGATTACAGGC ACCCGCCACCACGCCCAGCTGATTTTTGTATTTTTATTAGAGACGGGGTT TCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCAC CTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCC TGGCCAACCGCCCACTCCACTCCATCTCGAGTGTGATATGGCATGTGGAC CGGGGACTGGGCCTCTTCTAATCTGATCGGTGCAAATGGCTGGCTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01081.hp2 others(5): Show HG00408.hp1 HG00673.hp1 HG01081.hp2 HG02074.hp1 HG03239.hp1 HG04184.hp2 NA19056.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0002g0009 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0002g0009 a0001c0001t0003g0111 a0001c0001t0003g0191 a0001c0001t0005g0005 a0001c0001t0005g0007 a0001c0001t0009g0165	8	198	0.0404	-395	c.785 others(19): Show c.785+12165_785+12559del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288687	GTCCCTGC others(387): Show GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	-394	c.44 others(11): Show c.4483_*4876del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3703		chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1849949	GGGCAAAT others(387): Show GGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAA ATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTG AGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGG GCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGG GGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGC CACATGGGCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAGTCGCGTG GACACAGACGGCAAATGCTGAGGAGGGTGTGGGGCGGCCGCGTGGGCATG GACGGCAAATGCTGAGGAGGGCGTGGGGCAACCGTGTGGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0104 a0001c0004t0048g0104	1	363	0.0028	-394	c.37+ others(15): Show c.37+6523_37+6916del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CFAP74_chr1_1916957_2008786	1935179	GTGTTAGG others(387): Show GTGTTAGGTTGTGGGTACACACGTGTACGTGGGTGTTGTAGGTACACACG TGTGTACGTGGGTGTTAGGCTGTAAGTACACACGTGTGTATGTGGGTGTT AGGTTGTAGGTACACAGGTGTATACGTGGGTGTTAGGTTGTAGGTACACA GGTGTGTACGTGGGTGTTAGGTTGTAGGTACACACGTGTGTATGTGGGTG TTAGGTTATAGGTACACACGTCTGTATGTGTGGGTGTTAGGTTGTAGGTA CACACGTGTGTACGTGGGTGTTAGGTTGTAGGTACACAGGTGTGTGCGCG CTAGGTTGTAGGTACACATGTGTGCACGTGGGTTAGGTTGTAGGTACACA CGTGTGTACCTGTTAGGTTGTAGGTATACACGTGTGTACGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	278	0.0036	-394	c.301 others(19): Show c.3011+3282_3011+3675del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587812	CCGTGTCA others(387): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0234 a0001c0002t0007g0234	1	348	0.0029	-394	c.927 others(15): Show c.927+721_928-459del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX51_chr12_132131594_132149319	132148925	CCCCTAAT others(387): Show CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0034 a0013c0021t0001g0034	1	334	0.0030	-394	c.-50 others(11): Show c.-5023_-4630del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4607		chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241807222	TCCCCCCT others(387): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAG CTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	314	0.0032	-394	c.30 others(11): Show c.3057_*3450del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2936		chr2	TogoVar
GHR_chr5_42418439_42726878	42516396	GGACCCCG others(387): Show GGACCCCGGAGTCAGGTGAGCTGGTTGAAATCCTGGCTTGGCTACTTCCC AGCTATGTGATCCTGGGCTTCAGGGTTCCCTTTTGCAACATGACATGATT GCTGAGCTGCTTCTTAGGGTTGTGTGTGGCTCCGGTAAGATAATACAGGA AAAGAGCTGAAAGCAGTATCTGACCCTGGAGAGAAAGTAGGGAAGAGACA ATAGAGGAAAGAGGACAAGGAAGTGGGAGATGAAGAGAAAGTTCAAGAAG GAAAGTGGAAGAATCTCAAATAGAAAGTTAATTTTCAGTTTTTCCTGAGA AGAGATATATAGACATCTTCATGTGGCTTTGGAGAGCCTTGGAGCCCATC AGCAAGACGGTTGGAAATTATACTGAAACAGAAGTGTAGACCTAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0049 a0002c0002t0006g0049	1	210	0.0048	-394	c.-11 others(19): Show c.-11-49466_-11-49073del	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(387): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATG TGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACG CACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACA TGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTA TACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	428	0.0023	-394	c.228 others(16): Show c.228-1263_228-870del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
ITGB6_chr2_160094671_160205272	160120294	TAAGAAAA others(387): Show TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACTTGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGAAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACAAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATTAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(221): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0001c0018 a0001c0019 a0001c0021 a0003c0008 a0004c0020 a0005c0016 a0006c0009 a0008c0014 a0009c0012 a0011c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 a0001c0003t0021 a0001c0005t0005 a0001c0006t0008 a0001c0013t0002 a0001c0018t0003 a0001c0019t0003 a0001c0021t0003 a0003c0008t0019 a0004c0020t0002 a0005c0016t0001 a0006c0009t0001 a0008c0014t0003 a0009c0012t0003 a0011c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0094 a0001c0001t0001g0095 others(211): Show a0001c0001t0001g0008 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0163 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0288 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0187 a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0006g0003 a0001c0002t0006g0086 a0001c0002t0006g0088 a0001c0002t0009g0029 a0001c0002t0009g0050 a0001c0002t0009g0057 a0001c0002t0011g0041 a0001c0003t0001g0139 a0001c0003t0001g0209 a0001c0003t0003g0004 a0001c0003t0003g0012 a0001c0003t0003g0132 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0146 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0225 a0001c0003t0003g0226 a0001c0003t0003g0304 a0001c0003t0003g0316 a0001c0003t0015g0147 a0001c0003t0021g0337 a0001c0005t0005g0015 a0001c0005t0005g0016 a0001c0005t0005g0223 a0001c0005t0005g0323 a0001c0005t0005g0324 a0001c0005t0005g0325 a0001c0005t0005g0326 a0001c0005t0005g0327 a0001c0005t0005g0328 a0001c0005t0005g0329 a0001c0005t0005g0330 a0001c0005t0005g0331 a0001c0005t0005g0332 a0001c0005t0005g0333 a0001c0006t0008g0092 a0001c0006t0008g0093 a0001c0006t0008g0305 a0001c0006t0008g0306 a0001c0006t0008g0307 a0001c0013t0002g0255 a0001c0018t0003g0145 a0001c0019t0003g0083 a0001c0021t0003g0334 a0003c0008t0019g0014 a0004c0020t0002g0037 a0005c0016t0001g0303 a0006c0009t0001g0318 a0008c0014t0003g0153 a0009c0012t0003g0193 a0011c0017t0001g0222	224	358	0.6257	-394	c.198 others(19): Show c.1981+3103_1981+3496del	ITGB6	ENSG00000115221.12	transcript	ENST00000283249.7	protein_coding	12/14			chr2	TogoVar
KDM6A_chrX_44868188_45117779	45040215	CGGGCAGA others(387): Show CGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCCGGGGGGT GGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCCCCCCTCA CCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0199	1	199	0.0050	-394	c.654 others(17): Show c.654+2529_654+2922del	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237544804	GGGGGGAC others(387): Show GGGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAG TTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGA GTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGT GAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGG GTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTA ATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGCACAGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG03453.hp2 HG02109.hp2 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0094 a0001c0001t0002g0263 a0001c0001t0003g0131 a0001c0001t0002g0094 a0001c0001t0002g0263 a0001c0001t0003g0131	3	286	0.0105	-394	c.154 others(19): Show c.1540-1800_1540-1407del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241807222	TCCCCCCT others(387): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAG CTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	319	0.0031	-394	c.-20 others(11): Show c.-2055_-1662del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1970		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686659	CAGAACAG others(387): Show CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	362	0.0028	-394	c.981 others(16): Show c.981+959_981+1352del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687053	GAGAACAG others(387): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGC TGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	362	0.0028	-394	c.981 others(15): Show c.981+565_981+958del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RAPGEF1_chr9_131571775_131745076	131586495	CACACACA others(387): Show CACACACACCTGCAGAGCGAGACTCCGTCAAACACACACACACACACACA CCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACCTGCAGAGC GAGACTCCGTCTCAAACACACACACACACACACACCTGCAGAGACTCCGT CTCAAACACACACACACACACACACCCCTGCAGAGTGAGACTCCGTCTCA AACACACACACACACCTGCAGAGCGAGACTCCGTCTCACACACACACCTG CAGAGCGAGACTCCGTCTCACACACACACCTGCAGAGCGAGACTCCGTCA AACACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACA CACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01243.hp1 others(16): Show HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0035 a0001c0006t0014 a0001c0006t0031 a0001c0007t0005	a0001c0001t0005g0021 a0001c0001t0005g0026 a0001c0001t0005g0027 others(16): Show a0001c0001t0005g0021 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0008g0033 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0016g0294 a0001c0001t0035g0359 a0001c0006t0014g0042 a0001c0006t0014g0043 a0001c0006t0031g0051 a0001c0007t0005g0029 a0001c0007t0005g0037 a0001c0007t0005g0039	19	368	0.0516	-394	c.323 others(18): Show c.3233+847_3233+1240del	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288687	GTCCCTGC others(387): Show GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0247 a0004c0008t0001g0247	1	290	0.0035	-394	c.166 others(18): Show c.1662+653_1662+1046del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288773	TCCCGTGT others(387): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0093 a0002c0028t0001g0093	1	290	0.0035	-394	c.166 others(18): Show c.1662+765_1663-1076del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071766	GGCATCAC others(387): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGG TATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19079.hp1 NA18967.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0108 a0001c0001t0001g0116	2	118	0.0170	-394	c.224 others(19): Show c.2241+1473_2241+1866del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
STK32B_chr4_5046480_5505989	5317047	ATATAATA others(387): Show ATATAATATATATGATATAATATATTATATATTATATATATAATATATAT GATATAATATATAATATATATAATACATTATAATATATAATATATATGTA TAATATACATATTACATATATATAACATATAATATATATATATAACATAT ATATATTATATATATAACATATATATATTATATATAACATATATATATTA TATATAACATATAACATATATATAATATATAACATATAACATATATATAA TATATAATATATAACATATGTATAATATATATTACATATATAATACATAT ATATAATATATATAATGTATATGTATTATATATATTACATATATATAATA TATATAATGTATATGTATTATATATAATACATATATATTACATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	170	0.0059	-394	c.261 others(19): Show c.261-14172_261-13779del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar

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Search Results (Total: 10000 hits)