JoGo: Joint Open Genome and Omics Platform

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
PMF1_chr1_156208007_156245042	156237478	ACTCTGTT others(303): Show ACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAA CCTCCACTTCCCAGGTTCAAGCCATTCTCATGCCTCAGCCTCCTGAGTAG CTGGGATTCCAGGCATGAGCTGCCACACCCAGCTAAATTTTGTATTTTTA ATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGG CTCAAGCAATTCACCCACCTCAGCCTCACAACGTGCTGGGATTACAGACT TGAGCCACCACACCTGGCCCCAGAAATGTTCTATTTCAACTTTGTTTTTG AGACAGTCTTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	364	0.0028	-310	c.564 others(17): Show c.564+1023_564+1332del	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPARG_chr3_12284070_12439344	12310452	TGAGCCCT others(303): Show TGAGCCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCAGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGTGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(102): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19043.hp2 NA19062.hp1 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(102): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0002t0001g0062 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0002g0199 a0001c0004t0001g0029 a0001c0004t0002g0043 a0001c0005t0001g0294 a0002c0003t0001g0243 a0002c0003t0001g0244	105	294	0.3571	-310	c.-82 others(17): Show c.-82-1916_-82-1607del	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP6R2_chr22_50338327_50450090	50433227	AGGGGGCG others(303): Show AGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAAC CTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCACTTGCC CTGGAGGTGAACCTGGAGGAGGGCTGGGGGCGCGGACGCTGGGCAGGGGC CGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGATG CTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCTG GGGGTGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCT GGAGGAGGGCT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	340	0.0029	-310	c.140 others(18): Show c.1400+992_1400+1301del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433611	TGCTGGGC others(303): Show TGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGC CGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAAC CTGGAGGAGGGCCGGGGGCGCGGACGCTGGGCAGGGGCCAGGCATTTGCC CTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGC CGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATG CTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCG GGGGCGCAGAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0150 a0002c0004t0005g0150	1	340	0.0029	-310	c.140 others(18): Show c.1401-1216_1401-907del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434040	GCGGACGC others(303): Show GCGGACGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGG AGGGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGG TGAACCTGGAGGAGGGCCGGGGGCGCAGACGCTGGGCAGGGGCTGGGCAT TTGCTCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGATGCTGGGCA GGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCAT GGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAG GGCCGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	340	0.0029	-310	c.140 others(17): Show c.1401-925_1401-616del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23			chr22	TogoVar
PRCP_chr11_82817936_82905430	82882484	TGAGCCAG others(303): Show TGAGCCAGTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp2 HG02630.hp1 others(5): Show HG00741.hp1 HG02145.hp2 HG02630.hp1 HG02886.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0005 a0001c0001t0011 a0006c0009t0016 a0001c0001t0005 a0001c0001t0011 a0006c0009t0016	a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0011g0107 others(5): Show a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0011g0109 a0001c0001t0011g0110 a0001c0001t0011g0113 a0006c0009t0016g0117	8	320	0.0250	-310	c.168 others(19): Show c.168+17441_168+17750del	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	1/8			chr11	TogoVar
PRDM15_chr21_41793225_41884344	41806084	CCACCACC others(303): Show CCACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCATCACCATCACCATCACCACCATCA CTACCACCATCACCACCACCACCATCACCACCACCCATCACCACCACCAC CATCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCATCACTACCACCATCACC ACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0170 a0001c0001t0009g0170	1	406	0.0025	-310	c.265 others(19): Show c.2653-1780_2653-1471del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRICKLE1_chr12_42451757_42594746	42496671	CCACTCGC others(303): Show CCACTCGCTACTTCACCTTGCACTTTCATGTTAGAGAGATGGCTTCTTTC CTGAAACCTCATGAAGCAACCTCTGCTAGCTTCCAACTTTTCTTCTGTAG CTTCCTCACCTCTCTCAGCCTTTGTAGAATGGAAGAGAGTTAGGGCTTTG CTCTGGATTAGGCTTTGGCTTAGGGGAATGTTGTGGCTGGTTTGATCTTC TATTCAGACCATTAAAACTTTCTATCAGCAATAAGTCTGTTTCACTTTCT TATAATTCATGTTCACTGGATTAGCACTTTTAATTACCTTCAAGAACTAT TCCTTTGCAGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0003 a0007c0014t0003	a0007c0014t0003g0242 a0007c0014t0003g0242	1	300	0.0033	-310	c.-48 others(19): Show c.-48-24417_-48-24108del	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2122171	GGTGGTTA others(303): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTG GTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGT GGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG TGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	286	0.0035	-310	c.335 others(19): Show c.335-13085_335-12776del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSMA8_chr18_26128869_26198355	26197403	TTGCACTC others(303): Show TTGCACTCCAGCCTGGGCGACAGAGTGAGACCGTCTCAAAAAAAAGAAAG AAAGAAAGAAAGAAAAGGGCCGGGCGCGGTGGCTGATGCATGTAATCCCA GCACTTTGGGAGACCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACGAAAAAT TTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGGTATTTGGGGGGCT GAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCGA GACCGCGCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	268	0.0075	-310	c.49 others(11): Show c.4993_*5302del	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding		4049		chr18	TogoVar
PTPRD_chr9_8309246_10618002	10498740	TAAAACCT others(303): Show TAAAACCTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01099.hp1 others(28): Show HG00642.hp1 HG00642.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0002c0009 a0003c0008 a0004c0016 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0003t0004 a0001c0003t0007 a0001c0003t0023 a0001c0004t0003 a0001c0004t0018 a0001c0005t0001 a0001c0006t0026 a0001c0007t0021 a0001c0010t0017 a0001c0012t0016 a0001c0013t0012 a0001c0014t0025 a0001c0017t0002 a0001c0018t0004 a0002c0009t0006 a0003c0008t0008 a0004c0016t0020 a0005c0015t0010	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0013 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0013g0022 a0001c0001t0019g0023 a0001c0001t0022g0012 a0001c0001t0024g0032 a0001c0002t0001g0009 a0001c0002t0003g0024 a0001c0002t0005g0025 a0001c0002t0011g0030 a0001c0002t0015g0010 a0001c0003t0004g0027 a0001c0003t0007g0029 a0001c0003t0023g0031 a0001c0004t0003g0001 a0001c0004t0018g0015 a0001c0005t0001g0019 a0001c0006t0026g0034 a0001c0007t0021g0002 a0001c0010t0017g0016 a0001c0012t0016g0028 a0001c0013t0012g0014 a0001c0014t0025g0033 a0001c0017t0002g0005 a0001c0018t0004g0020 a0002c0009t0006g0007 a0003c0008t0008g0003 a0004c0016t0020g0011 a0005c0015t0010g0026	31	34	0.9118	-310	c.-60 others(23): Show c.-600+113348_-600+113657del	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
RBM5_chr3_50083919_50124021	50084279	ACCCCCCC others(303): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGG AAGGGGCGGCTGGCCAGGCGGGGGGCTGACTCCCCCACCTCCCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTCCC GGACAGGGGCGGCTGGCCGGGCAGAGGAGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGC GGGGGGCTGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01109.hp1 others(12): Show HG00323.hp2 HG01106.hp1 HG01109.hp1 HG02622.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 NA18612.hp1 NA18945.hp2 NA18968.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0224 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	15	284	0.0528	-310	c.-48 others(11): Show c.-4803_-4494del	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4639		chr3	TogoVar
RIPK1_chr6_3063494_3120187	3090823	CGCACCTA others(303): Show CGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	340	0.0029	-310	c.915 others(17): Show c.915+1169_915+1478del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091598	AGCGCCTA others(303): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02135.hp2 NA19011.hp2 HG01978.hp1 HG02135.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0295 a0001c0002t0001g0174 a0001c0002t0002g0082 a0001c0001t0002g0295 a0001c0002t0001g0174 a0001c0002t0002g0082	3	340	0.0088	-310	c.915 others(17): Show c.915+2003_915+2312del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092147	TAACCGCA others(303): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTG CCGCACCTCGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	340	0.0029	-310	c.915 others(17): Show c.915+2519_915+2828del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093055	CGCGCCTA others(303): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	340	0.0029	-310	c.915 others(17): Show c.915+3429_915+3738del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093108	TAACCGCA others(303): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03710.hp2 HG02572.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0255 a0001c0001t0004g0003 a0001c0001t0001g0255 a0001c0001t0004g0003	2	340	0.0059	-310	c.915 others(17): Show c.915+3460_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093148	CGCGCCTA others(303): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	340	0.0029	-310	c.915 others(17): Show c.915+3522_915+3831del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCARB1_chr12_124771856_124868864	124849851	CCAGGAGT others(303): Show CCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCTGTCTCTAC AAAAAATCTAAAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCAG TTATTCAGGAGGCCAAGGTAGGAGGATCGATTGAGCCTGAGTGGTTGAAG CTGCAGTGAGCCGTAATCATGCCACTGCACTCCAGCTTGGGTGACAGAGT GAGACCCTGTCTCAAAAAATCTAAATAAATAAATAATAAAGGGTGGGCAC TGTGGCATATGCTTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCATTTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(92): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00621.hp1 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01891.hp1 HG02109.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18950.hp1 NA18954.hp2 NA18960.hp1 NA18963.hp1 NA18971.hp1 NA18981.hp2 NA18982.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0016 a0001c0017 a0002c0006 a0002c0008 a0003c0009 a0004c0012 a0006c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0016t0001 a0001c0017t0005 a0002c0006t0002 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0008t0009 a0003c0009t0003 a0004c0012t0001 a0006c0014t0004	a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0092 others(91): Show a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0092 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0241 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0148 a0001c0001t0003g0165 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0004g0026 a0001c0001t0004g0155 a0001c0001t0004g0324 a0001c0001t0005g0043 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0008g0027 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0012g0078 a0001c0001t0016g0240 a0001c0001t0018g0071 a0001c0001t0019g0060 a0001c0001t0025g0180 a0001c0002t0001g0001 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0133 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0254 a0001c0002t0001g0269 a0001c0002t0002g0088 a0001c0002t0002g0320 a0001c0002t0003g0070 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0083 a0001c0002t0003g0153 a0001c0002t0003g0163 a0001c0002t0024g0265 a0001c0003t0001g0262 a0001c0003t0002g0069 a0001c0003t0002g0173 a0001c0003t0002g0263 a0001c0003t0002g0264 a0001c0003t0002g0268 a0001c0003t0002g0280 a0001c0003t0004g0321 a0001c0003t0007g0082 a0001c0004t0001g0154 a0001c0005t0001g0350 a0001c0005t0003g0349 a0001c0005t0003g0351 a0001c0005t0003g0352 a0001c0005t0003g0354 a0001c0005t0003g0355 a0001c0005t0004g0346 a0001c0005t0004g0347 a0001c0005t0004g0348 a0001c0005t0004g0353 a0001c0007t0001g0063 a0001c0007t0001g0134 a0001c0007t0003g0135 a0001c0016t0001g0020 a0001c0017t0005g0341 a0002c0006t0002g0017 a0002c0006t0004g0012 a0002c0006t0005g0018 a0002c0006t0006g0010 a0002c0008t0009g0016 a0003c0009t0003g0123 a0004c0012t0001g0113 a0004c0012t0001g0179 a0006c0014t0004g0033	95	356	0.2669	-310	c.126 others(19): Show c.126+13434_126+13743del	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCN11A_chr3_38840764_39056944	38877320	CTATATAT others(303): Show CTATATATGGTATATATATGGTGTATATACTATATATATGGTATATATAT GGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATATA TGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTAT ATACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATA TATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTAT ATATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGG TGTATATACTA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20805.hp1 HG01168.hp2 NA20805.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0134 a0003c0008t0001g0135 a0003c0008t0001g0134 a0003c0008t0001g0135	2	314	0.0064	-310	c.339 others(19): Show c.3393+2320_3393+2629del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288210	TCTGCTCC others(303): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0009 a0003c0034t0009	a0003c0034t0009g0279 a0003c0034t0009g0279	1	290	0.0035	-310	c.166 others(17): Show c.1662+204_1662+513del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC63_chr6_107862756_107963208	107938513	AGGATTAC others(303): Show AGGATTACAGTTGTGAGACACCACATCTGGCCCCAGTAAGTCACTTCTTT TTTCTTTTTTTTTTTTTTTAGACGGAGTCTCACTCTGTCACCCAGGCTGG AGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCAACTCCCAGGTTCA AGCAATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCA CACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCCGCCATGTTG GCCAGACTGGTCTCAAACTCCTGACCTCAAGTTCCACCCACCTTGGCCTC CCAAAGTGCTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0054 a0001c0002t0015 a0001c0002t0054	a0001c0002t0015g0311 a0001c0002t0015g0313 a0001c0002t0054g0312 a0001c0002t0015g0311 a0001c0002t0015g0313 a0001c0002t0054g0312	3	332	0.0090	-310	c.125 others(17): Show c.125-9309_125-9000del	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561766	GCATTCTT others(303): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC AAGGCTCTCAC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	180	0.0056	-310	c.637 others(19): Show c.637+12564_637+12873del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561974	GCATTCTT others(303): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC AAGGCTCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	180	0.0056	-310	c.637 others(19): Show c.637+12772_637+13081del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572171	TTTCCTCC others(303): Show TTTCCTCCCCGCATCTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCTGA ACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTG CGTGCTCCCTGAACGCAATGTTCACTTTCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATT TCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAAC GCGATGTTCAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0125 a0001c0002t0002g0063 a0001c0001t0001g0125 a0001c0002t0002g0063	2	180	0.0111	-310	c.637 others(19): Show c.637+22983_637+23292del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMU1_chr9_33036765_33081674	33050826	AAAAAAAA others(303): Show AAAAAAAAAAATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG02145.hp1 HG01256.hp2 HG01346.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0068 a0001c0001t0020 a0001c0001t0068	a0001c0001t0020g0183 a0001c0001t0020g0184 a0001c0001t0068g0182 a0001c0001t0020g0183 a0001c0001t0020g0184 a0001c0001t0068g0182	3	418	0.0072	-310	c.129 others(19): Show c.1290+1987_1290+2296del	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar
SMU1_chr9_33036765_33081674	33050832	AAAAATAA others(303): Show AAAAATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAA AAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG01346.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0035 a0001c0001t0020 a0001c0001t0035	a0001c0001t0020g0282 a0001c0001t0035g0281 a0001c0001t0020g0282 a0001c0001t0035g0281	2	418	0.0048	-310	c.129 others(19): Show c.1290+1981_1290+2290del	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar
SNTG2_chr2_945849_1372613	1009315	TGTGGGTC others(303): Show TGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCAGGAAGACATGCT GGTTCTGATACTGGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCA GGAAGACATGCTGGTTCTGATACTGGTGGGTCGTGTGTATGGCAGCCACA CCTGTGTCCCCAGGAAGACATGCTGGTTCTGATACTGGTGGGTCGTGTGT ATGGCAGCCACACCTGTGTCCCCAGGAAGACTGCTGGTTCTGATACTGGT GTGGGTTGTGTGTATGGCAGCCACACCCATGTCCCCAGGAAGACTGCTGG TTCTGATACTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01081.hp2 others(29): Show HG00140.hp1 HG00642.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02683.hp1 HG02738.hp1 HG03453.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 NA18943.hp1 NA18990.hp2 NA19030.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019	a0001c0001 a0001c0002 a0002c0003 others(11): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0033 a0003c0007 a0003c0008 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0008c0011 a0019c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0002c0033t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0004c0014t0001 a0005c0006t0001 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0008c0011t0001 a0019c0025t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(29): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0002g0076 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0032 a0002c0033t0001g0119 a0003c0007t0001g0018 a0003c0007t0001g0080 a0003c0007t0002g0075 a0003c0008t0001g0013 a0004c0014t0001g0036 a0005c0006t0001g0019 a0005c0015t0001g0037 a0006c0009t0001g0011 a0006c0010t0001g0012 a0008c0011t0001g0004 a0019c0025t0001g0034	32	190	0.1684	-310	c.72+ others(17): Show c.72+58292_72+58601del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORD_chr15_45018195_45082185	45061566	GTCATAAC others(303): Show GTCATAACAACAATGACCTCGGCCAGGTGTGGTGGCTCATGCCTGTAATC CCAGCACTTTAGGAGGCCAAGGCCAGTGGATCATGAGATTAGGAGATCGA GACCTTCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAAATACAA AAAATTAGCCAGGCCTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCTTGAACACGGGAGGTGGAGGTTGCAGTGAG CCGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGACCGAGACTCCGT CTCAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03654.hp2 HG03239.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0198 a0001c0001t0001g0199	2	308	0.0065	-310	c.425 others(15): Show c.425+341_425+650del	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	4/8			chr15	TogoVar
TAF4_chr20_61969798_62070881	61970859	GTTCAACA others(303): Show GTTCAACACTGGGTAGACGGGCATTCAGCTTCATCACTGCGTCACACACC GGGCAGACGTGCATTCAACACCGGTTAGACGGGCATTCAGCTTCATCACT GCGTCACACACCGGGCAGACGTGCATTCAACACCGGTTAGACGTGCATTC AGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGT AGACGGGCATTCAGCTTCATCACTGCATCACACACCGGGCAGACGTGCGT TCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCATCACACACCGG GTAGACGTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0027 a0014c0023t0001g0027	1	314	0.0032	-310	c.49 others(11): Show c.4999_*5308del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		3938		chr20	TogoVar
TARBP1_chr1_234386313_234484179	234451456	CTGATGAA others(303): Show CTGATGAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018 a0019 a0022 a0025 a0026 a0028 a0029 a0033 a0035 a0036 a0037 a0038	a0001c0001 a0001c0006 a0001c0007 others(74): Show a0001c0001 a0001c0006 a0001c0007 a0001c0010 a0001c0014 a0001c0016 a0001c0023 a0001c0032 a0001c0033 a0001c0049 a0001c0053 a0001c0054 a0001c0055 a0001c0064 a0001c0069 a0001c0070 a0002c0002 a0002c0003 a0002c0009 a0002c0025 a0002c0051 a0002c0052 a0002c0058 a0002c0060 a0002c0061 a0002c0077 a0003c0090 a0004c0004 a0004c0020 a0004c0094 a0004c0103 a0005c0084 a0006c0013 a0006c0021 a0006c0029 a0007c0008 a0007c0018 a0007c0086 a0008c0024 a0008c0034 a0008c0071 a0008c0073 a0008c0074 a0009c0022 a0009c0028 a0009c0042 a0009c0043 a0010c0097 a0010c0098 a0010c0099 a0010c0100 a0010c0105 a0010c0106 a0010c0107 a0011c0019 a0011c0091 a0011c0092 a0011c0093 a0012c0079 a0012c0081 a0012c0082 a0013c0026 a0013c0076 a0015c0027 a0016c0035 a0018c0046 a0019c0040 a0022c0108 a0025c0085 a0026c0083 a0028c0059 a0029c0048 a0033c0072 a0035c0075 a0036c0057 a0037c0109 a0038c0039	a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 others(79): Show a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 a0001c0007t0001 a0001c0010t0001 a0001c0014t0003 a0001c0016t0001 a0001c0023t0001 a0001c0032t0001 a0001c0033t0001 a0001c0033t0003 a0001c0049t0001 a0001c0053t0003 a0001c0054t0001 a0001c0055t0003 a0001c0064t0001 a0001c0069t0001 a0001c0070t0001 a0002c0002t0001 a0002c0003t0001 a0002c0009t0001 a0002c0009t0003 a0002c0025t0001 a0002c0025t0005 a0002c0051t0003 a0002c0052t0003 a0002c0058t0001 a0002c0060t0003 a0002c0061t0001 a0002c0077t0003 a0003c0090t0001 a0004c0004t0001 a0004c0020t0001 a0004c0094t0001 a0004c0103t0001 a0005c0084t0001 a0006c0013t0002 a0006c0021t0002 a0006c0029t0002 a0007c0008t0001 a0007c0018t0001 a0007c0086t0001 a0008c0024t0001 a0008c0034t0001 a0008c0071t0001 a0008c0073t0001 a0008c0074t0001 a0009c0022t0002 a0009c0028t0002 a0009c0042t0002 a0009c0043t0002 a0010c0097t0001 a0010c0098t0001 a0010c0099t0001 a0010c0100t0001 a0010c0105t0001 a0010c0106t0001 a0010c0107t0001 a0011c0019t0001 a0011c0091t0001 a0011c0092t0001 a0011c0093t0001 a0012c0079t0004 a0012c0081t0004 a0012c0082t0004 a0013c0026t0001 a0013c0076t0001 a0015c0027t0001 a0016c0035t0001 a0016c0035t0003 a0018c0046t0002 a0019c0040t0002 a0022c0108t0001 a0025c0085t0001 a0026c0083t0004 a0028c0059t0001 a0029c0048t0001 a0033c0072t0001 a0035c0075t0007 a0036c0057t0001 a0037c0109t0001 a0038c0039t0002	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0084 others(170): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0006t0003g0001 a0001c0006t0003g0011 a0001c0006t0003g0018 a0001c0007t0001g0002 a0001c0007t0001g0114 a0001c0007t0001g0115 a0001c0007t0001g0125 a0001c0007t0001g0127 a0001c0007t0001g0130 a0001c0010t0001g0034 a0001c0010t0001g0102 a0001c0014t0003g0017 a0001c0016t0001g0039 a0001c0016t0001g0045 a0001c0016t0001g0069 a0001c0016t0001g0076 a0001c0016t0001g0097 a0001c0023t0001g0029 a0001c0023t0001g0031 a0001c0023t0001g0032 a0001c0032t0001g0070 a0001c0032t0001g0129 a0001c0033t0001g0135 a0001c0033t0003g0004 a0001c0049t0001g0033 a0001c0053t0003g0019 a0001c0054t0001g0107 a0001c0055t0003g0010 a0001c0064t0001g0151 a0001c0069t0001g0149 a0001c0070t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0108 a0002c0002t0001g0134 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0003t0001g0053 a0002c0003t0001g0061 a0002c0003t0001g0068 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0131 a0002c0003t0001g0154 a0002c0009t0001g0100 a0002c0009t0001g0104 a0002c0009t0001g0136 a0002c0009t0001g0137 a0002c0009t0003g0021 a0002c0009t0003g0022 a0002c0025t0001g0146 a0002c0025t0001g0147 a0002c0025t0005g0026 a0002c0051t0003g0008 a0002c0052t0003g0009 a0002c0058t0001g0103 a0002c0060t0003g0023 a0002c0061t0001g0054 a0002c0077t0003g0025 a0003c0090t0001g0188 a0004c0004t0001g0163 a0004c0004t0001g0173 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0195 a0004c0004t0001g0199 a0004c0004t0001g0200 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0020t0001g0003 a0004c0020t0001g0181 a0004c0020t0001g0227 a0004c0094t0001g0162 a0004c0103t0001g0230 a0005c0084t0001g0169 a0006c0013t0002g0270 a0006c0021t0002g0262 a0006c0021t0002g0263 a0006c0021t0002g0264 a0006c0029t0002g0247 a0006c0029t0002g0255 a0007c0008t0001g0187 a0007c0008t0001g0193 a0007c0008t0001g0202 a0007c0008t0001g0205 a0007c0008t0001g0211 a0007c0008t0001g0212 a0007c0008t0001g0218 a0007c0018t0001g0160 a0007c0018t0001g0168 a0007c0018t0001g0206 a0007c0018t0001g0222 a0007c0086t0001g0159 a0008c0024t0001g0112 a0008c0024t0001g0144 a0008c0024t0001g0145 a0008c0034t0001g0118 a0008c0034t0001g0124 a0008c0071t0001g0128 a0008c0073t0001g0072 a0008c0074t0001g0126 a0009c0022t0002g0249 a0009c0022t0002g0250 a0009c0022t0002g0251 a0009c0028t0002g0248 a0009c0028t0002g0252 a0009c0042t0002g0257 a0009c0043t0002g0268 a0010c0097t0001g0164 a0010c0098t0001g0165 a0010c0099t0001g0194 a0010c0100t0001g0172 a0010c0105t0001g0156 a0010c0106t0001g0235 a0010c0107t0001g0234 a0011c0019t0001g0203 a0011c0019t0001g0213 a0011c0019t0001g0214 a0011c0019t0001g0216 a0011c0091t0001g0225 a0011c0092t0001g0204 a0011c0093t0001g0215 a0012c0079t0004g0244 a0012c0081t0004g0240 a0012c0082t0004g0241 a0013c0026t0001g0085 a0013c0026t0001g0087 a0013c0026t0001g0088 a0013c0076t0001g0065 a0015c0027t0001g0236 a0015c0027t0001g0237 a0015c0027t0001g0238 a0016c0035t0001g0143 a0016c0035t0003g0024 a0018c0046t0002g0261 a0019c0040t0002g0269 a0022c0108t0001g0155 a0025c0085t0001g0157 a0026c0083t0004g0243 a0028c0059t0001g0109 a0029c0048t0001g0030 a0033c0072t0001g0073 a0035c0075t0007g0096 a0036c0057t0001g0105 a0037c0109t0001g0239 a0038c0039t0002g0246	176	274	0.6423	-310	c.172 others(18): Show c.1723-1200_1723-891del	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	9/29			chr1	TogoVar
TBCA_chr5_77686166_77781339	77766484	TCTCTCAC others(303): Show TCTCTCACTTTTATTTATTTATTTATTTATTTTTTTTTTTTTTTGAGACG GAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTC ACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACCACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(204): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 others(204): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0003g0307 a0001c0001t0004g0039 a0001c0001t0005g0348	207	354	0.5848	-310	c.53+ others(15): Show c.53+9411_53+9720del	TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3			chr5	TogoVar
TBCD_chr17_82747065_82950914	82765053	CTGCTCAT others(303): Show CTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 NA19043.hp2 others(2): Show HG01891.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0002 a0016 a0002 a0016	a0002c0007 a0002c0010 a0016c0019 a0002c0007 a0002c0010 a0016c0019	a0002c0007t0023 a0002c0010t0008 a0002c0010t0038 others(1): Show a0002c0007t0023 a0002c0010t0008 a0002c0010t0038 a0016c0019t0002	a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0010t0008g0168 others(2): Show a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0010t0008g0168 a0002c0010t0038g0291 a0016c0019t0002g0169	5	318	0.0157	-310	c.333 others(15): Show c.333+994_334-902del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM163_chr2_134450759_134724000	134607202	GACAGACC others(303): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTG AAAAGGAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACAGACCCCG AGAACTGTGCTGATGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	222	0.0045	-310	c.323 others(19): Show c.323-55421_323-55112del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134607326	GACAGACC others(303): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGATGAAAAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02897.hp2 others(1): Show HG02055.hp1 HG02451.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0001 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0014 a0001c0001t0005g0009 a0001c0001t0005g0010 others(1): Show a0001c0001t0001g0014 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0018g0006	4	222	0.0180	-310	c.323 others(19): Show c.323-55545_323-55236del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TNK2_chr3_195858364_195913551	195874846	CCCCTCGG others(303): Show CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCC CACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGC ACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACACT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGG CACAAGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0213 a0001c0050t0001g0213	1	372	0.0027	-310	c.125 others(19): Show c.1257-2686_1257-2377del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195874979	CCCCTCGG others(303): Show CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCT CCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGG CACACGAAGCT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0087 a0001c0006t0001g0087	1	372	0.0027	-310	c.125 others(19): Show c.1257-2819_1257-2510del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195875068	CCCCCTCG others(303): Show CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTC CGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGG CACAAGAAACT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0365 a0001c0003t0013g0365	1	372	0.0027	-310	c.125 others(19): Show c.1256+2875_1257-2599del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TPO_chr2_1408463_1548673	1525662	CACCCACT others(303): Show CACCCACTATGTGCAACCTCCCCCAAATCCCCCCGACTCTGTGCAAACTC CCCAAATCACCCCCACTCTGCAAACTCCCCAAATCTCACCCCACTGTGGG CAACCACACTAAATCCCGCCACTGTGTGCAACCTCACCAAATTTCCCCGT GTGCAACCTACCCAAATGCCCCCCACTCTGTGCAACCTCCCAAAATCCCC CACAATGTGTGCAAACTCCTCAAATCCCAATACTGTGTGCAACCTCCTCA AATCCCCCCACTGTGCGCAACCTCCTCATATCCCCCGACTGTTTACAACC TTCCCAAATCT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0009 a0006c0013t0012 a0002c0002t0009 a0006c0013t0012	a0002c0002t0009g0062 a0006c0013t0012g0067 a0002c0002t0009g0062 a0006c0013t0012g0067	2	130	0.0154	-310	c.261 others(19): Show c.2618+8681_2618+8990del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1526379	AATGCCCC others(303): Show AATGCCCCCCAATGTGAGCAACCCCCCCAAATCAACATGCTGTGTGAAAC CTCAAATCCCCCAACTGTGTGCAACCTCCCCAAATCCCCTCCACTGTGTG CAACCTCAAGTCCGCCACTGTGTGCAACCCCCGCAAATCCTCCCAGTGTT CGCAACCTCCTCAAATCCTCTCACTGTGTGCAACCTTCTCAAATCCCACG CCACTGTGAGCAACCTCCACAAATCCCCCCAACTCTGTGCAACCTCCCCA AATCTCCCCAGTGTGTGCAACTTCCCTAAATCCCCCAAACTGTGTTCATC CTCCCCAAATC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0009 a0006c0013t0012 a0002c0002t0009 a0006c0013t0012	a0002c0002t0009g0062 a0006c0013t0012g0067 a0002c0002t0009g0062 a0006c0013t0012g0067	2	130	0.0154	-310	c.261 others(19): Show c.2618+9398_2618+9707del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291240	TCCGTGTC others(303): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01069.hp2 others(11): Show HG00735.hp2 HG00738.hp2 HG01069.hp2 HG02451.hp1 HG02647.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp1 NA19067.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0020 a0002c0003 a0004c0014 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0003 a0001c0004t0002 a0001c0007t0003 a0001c0020t0002 a0002c0003t0002 a0004c0014t0001 a0005c0013t0001	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0137 others(11): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0137 a0001c0001t0001g0233 a0001c0001t0002g0166 a0001c0001t0010g0111 a0001c0002t0003g0037 a0001c0004t0002g0025 a0001c0004t0002g0043 a0001c0007t0003g0065 a0001c0020t0002g0229 a0002c0003t0002g0075 a0004c0014t0001g0074 a0005c0013t0001g0089	14	284	0.0493	-310	c.121 others(18): Show c.1214+949_1214+1258del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UGGT1_chr2_128086200_128200677	128113685	TAAGACTC others(303): Show TAAGACTCTGTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0016 a0001c0017 a0001c0019 a0001c0021 a0001c0025 a0002c0012 a0002c0026 a0003c0006 a0004c0008 a0005c0009 a0006c0011 a0007c0013 a0008c0014 a0009c0015 a0010c0024 a0011c0023 a0012c0020 a0013c0022 a0014c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(69): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0003t0002 a0001c0003t0007 a0001c0003t0014 a0001c0003t0027 a0001c0003t0028 a0001c0003t0034 a0001c0003t0035 a0001c0003t0036 a0001c0003t0039 a0001c0003t0041 a0001c0003t0044 a0001c0003t0066 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0011 a0001c0004t0012 a0001c0004t0013 a0001c0004t0015 a0001c0004t0024 a0001c0004t0025 a0001c0004t0050 a0001c0004t0052 a0001c0004t0058 a0001c0004t0060 a0001c0004t0063 a0001c0004t0065 a0001c0005t0008 a0001c0005t0037 a0001c0005t0040 a0001c0007t0022 a0001c0007t0042 a0001c0010t0016 a0001c0016t0001 a0001c0017t0007 a0001c0019t0038 a0001c0021t0001 a0001c0025t0016 a0002c0012t0019 a0002c0026t0045 a0003c0006t0002 a0003c0006t0007 a0004c0008t0005 a0005c0009t0001 a0006c0011t0023 a0007c0013t0002 a0008c0014t0008 a0009c0015t0011 a0010c0024t0005 a0011c0023t0002 a0012c0020t0002 a0013c0022t0048 a0014c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(250): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0004g0006 a0001c0001t0004g0030 a0001c0001t0004g0046 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0011g0038 a0001c0001t0011g0085 a0001c0001t0011g0112 a0001c0001t0013g0036 a0001c0001t0013g0087 a0001c0001t0013g0109 a0001c0001t0017g0092 a0001c0001t0017g0116 a0001c0001t0017g0132 a0001c0001t0018g0059 a0001c0001t0018g0093 a0001c0001t0025g0065 a0001c0001t0049g0073 a0001c0001t0051g0044 a0001c0001t0053g0047 a0001c0001t0054g0079 a0001c0001t0055g0076 a0001c0001t0056g0113 a0001c0001t0057g0058 a0001c0001t0059g0014 a0001c0001t0061g0048 a0001c0001t0062g0099 a0001c0001t0064g0095 a0001c0001t0067g0069 a0001c0003t0002g0001 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0176 a0001c0003t0002g0179 a0001c0003t0002g0182 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0205 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0215 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0251 a0001c0003t0007g0164 a0001c0003t0007g0166 a0001c0003t0007g0175 a0001c0003t0007g0180 a0001c0003t0007g0183 a0001c0003t0007g0200 a0001c0003t0007g0211 a0001c0003t0007g0212 a0001c0003t0007g0217 a0001c0003t0007g0222 a0001c0003t0007g0229 a0001c0003t0014g0174 a0001c0003t0014g0216 a0001c0003t0014g0224 a0001c0003t0027g0223 a0001c0003t0028g0225 a0001c0003t0034g0177 a0001c0003t0035g0190 a0001c0003t0036g0158 a0001c0003t0039g0213 a0001c0003t0041g0171 a0001c0003t0044g0202 a0001c0003t0066g0196 a0001c0004t0001g0007 a0001c0004t0001g0013 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0070 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0111 a0001c0004t0001g0115 a0001c0004t0001g0130 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0141 a0001c0004t0004g0023 a0001c0004t0004g0041 a0001c0004t0004g0081 a0001c0004t0004g0117 a0001c0004t0004g0136 a0001c0004t0005g0012 a0001c0004t0005g0026 a0001c0004t0005g0027 a0001c0004t0005g0123 a0001c0004t0005g0125 a0001c0004t0005g0126 a0001c0004t0005g0145 a0001c0004t0005g0147 a0001c0004t0005g0148 a0001c0004t0005g0149 a0001c0004t0005g0150 a0001c0004t0005g0151 a0001c0004t0005g0153 a0001c0004t0011g0143 a0001c0004t0012g0032 a0001c0004t0012g0039 a0001c0004t0012g0040 a0001c0004t0012g0106 a0001c0004t0013g0034 a0001c0004t0015g0028 a0001c0004t0015g0144 a0001c0004t0015g0146 a0001c0004t0024g0118 a0001c0004t0024g0128 a0001c0004t0025g0124 a0001c0004t0050g0005 a0001c0004t0052g0119 a0001c0004t0058g0052 a0001c0004t0060g0035 a0001c0004t0063g0157 a0001c0004t0065g0029 a0001c0005t0008g0162 a0001c0005t0008g0163 a0001c0005t0008g0226 a0001c0005t0008g0231 a0001c0005t0008g0233 a0001c0005t0008g0234 a0001c0005t0008g0235 a0001c0005t0008g0236 a0001c0005t0008g0237 a0001c0005t0008g0240 a0001c0005t0008g0241 a0001c0005t0037g0238 a0001c0005t0040g0239 a0001c0007t0022g0245 a0001c0007t0022g0247 a0001c0007t0042g0246 a0001c0010t0016g0155 a0001c0010t0016g0156 a0001c0016t0001g0009 a0001c0017t0007g0227 a0001c0019t0038g0195 a0001c0021t0001g0142 a0001c0025t0016g0244 a0002c0012t0019g0248 a0002c0012t0019g0249 a0002c0026t0045g0332 a0003c0006t0002g0178 a0003c0006t0002g0206 a0003c0006t0007g0204 a0004c0008t0005g0139 a0004c0008t0005g0152 a0005c0009t0001g0042 a0005c0009t0001g0043 a0006c0011t0023g0003 a0006c0011t0023g0004 a0007c0013t0002g0214 a0008c0014t0008g0232 a0009c0015t0011g0061 a0010c0024t0005g0140 a0011c0023t0002g0221 a0012c0020t0002g0181 a0013c0022t0048g0135 a0014c0018t0001g0045	253	332	0.7621	-310	c.696 others(15): Show c.696+441_696+750del	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	6/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP40_chr2_233470526_233571782	233567534	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG04115.hp1 HG04228.hp1 others(7): Show HG01433.hp2 HG04115.hp1 HG04228.hp1 NA18951.hp1 NA18959.hp2 NA18966.hp2 NA18968.hp1 NA18982.hp1 NA18989.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0180 a0002c0002t0001g0192 a0002c0002t0001g0194 others(7): Show a0002c0002t0001g0180 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0204 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0012g0182 a0002c0002t0012g0184	10	324	0.0309	-310	c.-11 others(10): Show c.-1180_-871del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		753		chr2	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA20129.hp1 HG02071.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0199 a0002c0002t0001g0188 a0002c0002t0001g0199	2	324	0.0062	-310	c.-12 others(10): Show c.-1206_-897del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		779		chr2	TogoVar
USP40_chr2_233470526_233571782	233567586	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	324	0.0031	-310	c.-12 others(10): Show c.-1232_-923del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		805		chr2	TogoVar
USP40_chr2_233470526_233571782	233567612	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02300.hp1 HG02451.hp1 others(6): Show HG00099.hp1 HG02300.hp1 HG02451.hp1 HG03490.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp1 NA19010.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0005 a0001c0001t0007 a0001c0014t0005 a0001c0001t0005 a0001c0001t0007 a0001c0014t0005	a0001c0001t0005g0310 a0001c0001t0005g0312 a0001c0001t0005g0317 others(5): Show a0001c0001t0005g0310 a0001c0001t0005g0312 a0001c0001t0005g0317 a0001c0001t0007g0005 a0001c0001t0007g0296 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0014t0005g0302	9	324	0.0278	-310	c.-12 others(10): Show c.-1258_-949del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		831		chr2	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG02027.hp2 others(5): Show HG01081.hp2 HG01192.hp1 HG02027.hp2 HG02083.hp2 HG02109.hp2 HG02615.hp2 HG03195.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0003c0003t0002	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 others(5): Show a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0005g0313 a0001c0001t0005g0318 a0001c0001t0007g0316 a0003c0003t0002g0154	8	324	0.0247	-310	c.-12 others(10): Show c.-1284_-975del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0319 a0001c0001t0007g0319	1	324	0.0031	-310	c.-13 others(11): Show c.-1310_-1001del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		883		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(303): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0017 a0013c0020t0017	a0013c0020t0017g0077 a0013c0020t0017g0077	1	324	0.0031	-310	c.-13 others(11): Show c.-1336_-1027del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		909		chr2	TogoVar
USP40_chr2_233470526_233571782	233567764	ATAGTTAT others(303): Show ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0019 a0014c0021t0019	a0014c0021t0019g0048 a0014c0021t0019g0048	1	324	0.0031	-310	c.-14 others(11): Show c.-1410_-1101del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		983		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)