Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(363): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0208 a0002c0001t0001g0209	2	248	0.0081	-370	c.226 others(19): Show c.2267+4773_2268-4634del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(363): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0180 a0002c0001t0001g0180	1	248	0.0040	-370	c.226 others(19): Show c.2268-3775_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC77_chr12_396644_447642	421083	AAACACAC others(363): Show AAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATG CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA TACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01496.hp2 others(47): Show HG00609.hp2 HG00738.hp1 HG01496.hp2 HG01934.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02300.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp2 NA18747.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0010	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0003 a0010c0010t0003	a0001c0001t0002g0003 a0001c0001t0002g0049 a0001c0001t0002g0074 others(45): Show a0001c0001t0002g0003 a0001c0001t0002g0049 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0099 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0181 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0246 a0001c0001t0003g0247 a0002c0002t0001g0117 a0002c0002t0001g0128 a0003c0003t0003g0069 a0010c0010t0003g0076	50	432	0.1157	-370	c.413 others(17): Show c.413+2450_413+2819del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421494	TCTTCTGT others(363): Show TCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGC ACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCAC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACC CTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGA GGGTAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACAC TCCATGTTCCATTACAGTGCG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00639.hp1 others(101): Show HG00280.hp2 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18966.hp1 NA18984.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0002c0009 others(4): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0004 a0004c0012 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0009t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0005 a0004c0012t0001 a0008c0013t0004	a0001c0001t0001g0398 a0001c0001t0002g0037 a0001c0001t0003g0024 others(99): Show a0001c0001t0001g0398 a0001c0001t0002g0037 a0001c0001t0003g0024 a0001c0001t0003g0039 a0001c0001t0004g0359 a0001c0001t0004g0386 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0021 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0051 a0002c0002t0001g0094 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0169 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0190 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0264 a0002c0002t0001g0268 a0002c0002t0001g0280 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0308 a0002c0002t0001g0316 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0332 a0002c0002t0001g0336 a0002c0002t0001g0354 a0002c0002t0001g0360 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0009t0001g0406 a0003c0003t0002g0063 a0003c0003t0002g0081 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0071 a0004c0004t0001g0072 a0004c0004t0001g0139 a0004c0004t0001g0142 a0004c0004t0001g0171 a0004c0004t0001g0177 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0004t0001g0306 a0004c0004t0001g0340 a0004c0004t0001g0345 a0004c0004t0001g0375 a0004c0004t0005g0344 a0004c0012t0001g0416 a0008c0013t0004g0419	104	432	0.2407	-370	c.413 others(17): Show c.413+2894_413+3263del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
DCC_chr18_52335197_53540899	53086186	TTTCTTCT others(363): Show TTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0041	1	114	0.0088	-370	c.126 others(21): Show c.1261+20021_1261+20390del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28			chr18	TogoVar
DLGAP2_chr8_732628_1713476	993119	ACCCCCTG others(363): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGC CCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-370	c.73+ others(17): Show c.73+85154_73+85523del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1710711	CAGCACCA others(363): Show CAGCACCACTGGTTACCTAGCTATAATGCACACCTAACACCCTACTTCGT CCAACTGCAGCAGAACACACAGGCTTCCCAAGCTACACTCTGGGCTATGA AACACACCTTAACAGATGTAAAAGAAGCACCACTGGTTACCTAGCTATAA TGCACACCTAACACCCTACTTCGTCCAACTGCAGCAGAACACACATGCTT CCCAAGCTACACTCTGGGCTATGAAACACACTTTAAAAATGTAAAAGAAG CACCACTGGTTACCTAGCTATAATGAACACCTAACACCCTACTTCATCCA ACTACAGCAGAACACACATGCTTCCCAAGCTACACTCTGGGCTATGAAAC ACACTTTAAAAATGTAAAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02895.hp2 HG00639.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0007 a0001c0010 a0002c0007	a0001c0010t0025 a0002c0007t0008 a0001c0010t0025 a0002c0007t0008	a0001c0010t0025g0012 a0002c0007t0008g0040 a0001c0010t0025g0012 a0002c0007t0008g0040	2	40	0.0500	-370	c.93 others(11): Show c.9306_*9675del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding		2236		chr8	TogoVar
EPS8L1_chr19_55070869_55092923	55078482	GCTGGACT others(363): Show GCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGG GTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGA GGGGCTGGGGGTCTGGACTCCTGAGTCAGAGGGAAGAGGGGCTGGGGGGC TGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGT CAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGG GGCTGGGGGTCTGGACTCCTGGGTCAGAGGGAGGAGGGGCTGGGGGGCTG GACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTTT GAGGGAGGAGGGGCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0157 a0001c0008t0001g0157	1	340	0.0029	-370	c.58+ others(13): Show c.58+402_59-100del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
F13A1_chr6_6139084_6325662	6261580	GCCCTCCA others(363): Show GCCCTCCAGGTGATTCTGATGTGTTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01099.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	292	0.0069	-370	c.571 others(17): Show c.571+4608_571+4977del	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
LUC7L_chr16_183990_234449	186798	GGGGAACA others(363): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	350	0.0029	-370	c.20 others(11): Show c.2030_*2399del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2191		chr16	TogoVar
MARS1_chr12_57483068_57521652	57493487	ATAATATA others(363): Show ATAATATATTATAATATATAATATATAATATATAATATATTATAATATAT AATATATTATAATATATAATATATAATATATTATAATATATAATATATAA TATATTATAATATATAATATATAATATATTATAATATATATTATATATAA TTAATATATAATATACAATATATATTATATATTATATATATTATATATAA TATATATTATATATTATAATATATTATATATTATATATTATATTATATAA TATATATTATATACATTATATTATATATATTATATATAATATATATTATA TATTATATATTATATTATATAATGTATATTATATATATTATATTATATAT TATAATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0192 a0001c0015t0001g0192	1	288	0.0035	-370	c.770 others(17): Show c.770+2845_770+3214del	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MGAM_chr7_141990879_142111747	142042882	CATATAAT others(363): Show CATATAATATCTAAATATAATATCTATATTATATATACATATAATATCTA AATATAATATATATATTATATATACATATAATATCTAAATATAATATATA TATTATATATACATATAATATCTAAATATAATATATATAAAATATAAACA TAATATCTAAATATAATATCTATATTATATATACATATAATATCTAAATA TAATATATATATTATATATACATATAATATCTAAATATAATATATATATT ATATATACATATAATATCTAAATATAATATCTATATTATATATACATATA ATATCTAAATATAATATATATATTATATATACATATAATATCTAAATATA ATATATATATTATATATACAT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	316	0.0032	-370	c.249 others(19): Show c.2498+2040_2498+2409del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MS4A6A_chr11_60167497_60188083	60174839	AGCTATAA others(363): Show AGCTATAACAAAAAGCAACAATAATGTTGCATTCTCACCTGATCAGTATT ATTCATTATTGTGATCATTAGAAGAAGAAGCCCTTATCTTCTCATCCCAT ATTTCCTATCCTCTTTTTCTTAGTACTGAATCTGATGTCTTCTCAAACCA AATTAACTCCTTACCATGCACACATACTGTTTCCTTGTTGGCCTATTCTG ATCTCCTGGGTCTTTCTGCTCTGTTTCCATTCTTAATTCACCACTCCATG TACCAAGATTCTCATTTTGATAAACTCATAATTTATGCCTCCAAAATTGG ATTAGTTTGATAATTAAGAACCTCTACAAACAGTAAGTTTTAGTTTTTCA TCATCAACCTTATTTAACATT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	366	0.0027	-370	c.549 others(15): Show c.549+193_549+562del	MS4A6A	ENSG00000110077.15	transcript	ENST00000528851.6	protein_coding	5/5			chr11	TogoVar
NKD2_chr5_1003802_1043943	1025463	GTCTCAGC others(363): Show GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCGTTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTG TGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCC CAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATT GTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCT CTTCCCACCCGCTAGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG04199.hp1 HG01358.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0050 a0001c0001t0014g0148 a0001c0001t0001g0050 a0001c0001t0014g0148	2	319	0.0063	-370	c.142 others(17): Show c.142-6645_142-6276del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026206	TCAGCCCA others(363): Show TCAGCCCATTGTCCCTGCTCTTCCCACCTGCTAGTGGGCGTCTCAGCCCA TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCTCGGTCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCGGCCCATTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTTTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCA GCCCATTGTCCCTGCTCTTCCCATCTGCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCATTGTCCCTGCTCT TCCCACCCTCTGTGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01358.hp2 others(7): Show HG01074.hp2 HG01168.hp2 HG01358.hp2 HG01515.hp1 HG02015.hp1 HG03239.hp2 HG04199.hp1 NA18747.hp2 NA18997.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0014 a0001c0010t0001 a0001c0001t0001 a0001c0001t0014 a0001c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0014g0148 a0001c0010t0001g0187	10	319	0.0314	-370	c.142 others(17): Show c.142-5918_142-5549del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARVB_chr22_44019302_44177939	44115047	GTAAGGCC others(363): Show GTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCA CCAGAACGGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATAC ACTGTTACTAACTAAGGCCCTGTACCAACACAGATACTTTGTTACTAAGT AAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACACC AACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGTAA GGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACAGCAA CACAGATACATTGTTATTAAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG03225.hp1 others(5): Show HG02258.hp2 HG02723.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA19012.hp2 NA19030.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0003c0033 a0001c0001 a0003c0006 a0003c0033	a0001c0001t0001 a0001c0001t0013 a0001c0001t0024 others(5): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0024 a0001c0001t0057 a0001c0001t0081 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002	a0001c0001t0001g0316 a0001c0001t0013g0184 a0001c0001t0024g0076 others(5): Show a0001c0001t0001g0316 a0001c0001t0013g0184 a0001c0001t0024g0076 a0001c0001t0057g0117 a0001c0001t0081g0103 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195	8	332	0.0241	-370	c.274 others(17): Show c.274-3954_274-3585del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCGF3_chr4_700832_775089	758686	CCCCTCTC others(363): Show CCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCG CGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTC CCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGG GTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTC CGGGTCTTTCTCCCCGCGCGG	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0283 a0001c0001t0034g0283	1	366	0.0027	-370	c.463 others(17): Show c.463-2589_463-2220del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTBP3_chr9_112213435_112338619	112230960	CCCTACGC others(363): Show CCCTACGCAGCTGTCCACCTTCACCAGGTCTCCATTATGCTTGCCTATGC TCACCACTGGGCTTCCTTCACTTCCATGCACCAGGACCCATCTCTCCCCT CTCCCCTCCCCTGTGAAGACATTGCCCTCCCTTTCTGCCTGGCTGATTCT TACTCATGTTGAACAAGTCAGCTTAACTATCATTTCTATTGAGTCCCTCT GCTAGGTTAGGTCTCCCTGCGTTACACTCCCTTTACAAAACCTATATTTC CCATACTATAAATCATCACTGTAATTACTTACTAAGTCTTATTCACTGTT TTATCCTCAGTGTCAGCACAATACTTGGCACACAGAAGTAATCAATACAT ATTACTAAAAAAGTGAAATGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01884.hp1 others(13): Show HG01243.hp2 HG01255.hp2 HG01884.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp1 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0028 a0001c0001t0001 a0001c0001t0008 a0001c0001t0028	a0001c0001t0001g0249 a0001c0001t0001g0304 a0001c0001t0001g0305 others(13): Show a0001c0001t0001g0249 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0337 a0001c0001t0008g0276 a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0028g0277	16	342	0.0468	-370	c.105 others(16): Show c.1054+50_1054+419del	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	10/13			chr9	TogoVar
RNF213_chr17_80255852_80403794	80315251	GGACGTGA others(363): Show GGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGG TAATGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATG GCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG TGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTG GTGGTGGAGGTACTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGT CGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGG TACTGGAGGTGATGGTGGTCC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0053 a0001c0004t0014g0053	1	292	0.0034	-370	c.281 others(19): Show c.2812-1935_2812-1566del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668600	CTCCCTCT others(363): Show CTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCC CTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTC TCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTC CCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC CCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCT CACCTTCCCTCTCCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0044 a0002c0004t0002g0044	1	262	0.0038	-370	c.249 others(19): Show c.2495+1614_2496-1731del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCN11A_chr3_38840764_39056944	38877083	CTATATAT others(363): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTGTATAT ACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTG TATATACTATATATATGGTATATATATGGTGTATATACTATATATGGTAT ATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTA TATATATGGTATATATATGGTGTATATACTATATATATGGTATATATATG GTGTATATACTATATATATGG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18991.hp2 HG02129.hp1 NA18991.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0233 a0003c0004t0001g0235 a0003c0004t0001g0233 a0003c0004t0001g0235	2	314	0.0064	-370	c.339 others(19): Show c.3393+2497_3393+2866del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SEH1L_chr18_12943011_12992531	12979877	ACCCCCCC others(363): Show ACCCCCCCACCTCCTTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGCGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGCGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGG	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18998.hp1 NA18961.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0008 a0001c0001t0001g0029	2	388	0.0052	-370	c.761 others(16): Show c.761+999_761+1368del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12979959	TGCCCCTC others(363): Show TGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGCGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGCGGCTGACCCCCCCACCTCCCTCCTGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGTCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCACCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCCCCCACCT CCCTCCCGGTCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(35): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01361.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18949.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0025 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0221	38	388	0.0979	-370	c.761 others(17): Show c.761+1086_761+1455del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC9A3_chr5_465456_529449	474425	AGGAGAGA others(363): Show AGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGAGAGGAGCTGCG GAGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCAGGTTCAGGTCCAG GGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCT GCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGCCAGGTTCAGGTCCAGGGA GGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGCG GAGAGGGGTTAGGCGGGGAGAGAGAGAGCGAGCCAGGTTCAGGTCCAGGG AGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGC GGAGAGGGGTTAGGCGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01517.hp2 HG03471.hp2 others(4): Show HG00558.hp2 HG01517.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0019 a0003c0032	a0001c0001t0007 a0001c0001t0021 a0001c0003t0009 others(4): Show a0001c0001t0007 a0001c0001t0021 a0001c0003t0009 a0001c0007t0012 a0001c0009t0009 a0001c0019t0009 a0003c0032t0007	a0001c0001t0007g0065 a0001c0001t0021g0127 a0001c0003t0009g0007 others(4): Show a0001c0001t0007g0065 a0001c0001t0021g0127 a0001c0003t0009g0007 a0001c0007t0012g0176 a0001c0009t0009g0090 a0001c0019t0009g0008 a0003c0032t0007g0161	7	218	0.0321	-370	c.250 others(16): Show c.2501+88_2501+457del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168614374	GGCCTCTT others(363): Show GGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCA GCACAGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGG GGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTC TTCACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG02293.hp2 others(6): Show HG01346.hp1 HG02135.hp1 HG02293.hp2 HG03490.hp2 HG03492.hp2 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(6): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0031	9	180	0.0500	-370	c.907 others(17): Show c.907+6137_907+6506del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1012847	TGGGCAGA others(363): Show TGGGCAGAGAGAAGAGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAA GGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATG GGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGG GTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0003 a0004 a0003 a0004	a0003c0008 a0004c0014 a0003c0008 a0004c0014	a0003c0008t0001 a0004c0014t0002 a0003c0008t0001 a0004c0014t0002	a0003c0008t0001g0044 a0004c0014t0002g0001 a0003c0008t0001g0044 a0004c0014t0002g0001	2	190	0.0105	-370	c.72+ others(17): Show c.72+61793_72+62162del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013402	TGGGCAGA others(363): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATG GGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGG GTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAA GGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0116 a0004c0004t0001g0116	1	190	0.0053	-370	c.72+ others(17): Show c.72+62394_72+62763del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013836	GGGATTTA others(363): Show GGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGG TGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGG GATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGC AGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTG GTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGA TCTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAG AGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02976.hp2 HG02738.hp2 HG02976.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0008 a0002c0005 a0003c0008	a0002c0005t0001 a0003c0008t0001 a0002c0005t0001 a0003c0008t0001	a0002c0005t0001g0107 a0003c0008t0001g0044 a0002c0005t0001g0107 a0003c0008t0001g0044	2	190	0.0105	-370	c.72+ others(17): Show c.72+62778_72+63147del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014276	GAGAAGGA others(363): Show GAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGACAGAGAGA AGGGTGGTCTGGAAAGTGATTTACAAGGGTAGAGAGAAGGGTGCTCTGGA GAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAA GGACAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAAAGAAG GGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA AGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGG ACAGAGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp2 others(44): Show HG00099.hp1 HG00140.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18969.hp2 NA19000.hp1 NA19043.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0013 a0017 a0020 a0022	a0001c0001 a0001c0002 a0002c0003 others(11): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0006c0009 a0009c0013 a0013c0020 a0017c0031 a0020c0032 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0008t0002 a0004c0004t0001 a0004c0004t0002 a0005c0015t0001 a0006c0009t0001 a0009c0013t0001 a0013c0020t0001 a0017c0031t0001 a0020c0032t0001 a0022c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 others(44): Show a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0041 a0001c0002t0001g0112 a0001c0002t0001g0145 a0001c0002t0002g0076 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0064 a0002c0003t0001g0129 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0183 a0002c0005t0001g0101 a0003c0007t0001g0055 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0008t0001g0060 a0003c0008t0001g0100 a0003c0008t0001g0130 a0003c0008t0001g0190 a0003c0008t0002g0072 a0004c0004t0001g0065 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0005c0015t0001g0103 a0006c0009t0001g0050 a0009c0013t0001g0042 a0013c0020t0001g0142 a0013c0020t0001g0143 a0017c0031t0001g0110 a0020c0032t0001g0059 a0022c0021t0001g0111	47	190	0.2474	-370	c.72+ others(17): Show c.72+63212_72+63581del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRRM3_chr7_76196896_76292287	76265834	ATATATAT others(363): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTATATATTTAA TATATATAAATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	324	0.0031	-370	c.830 others(15): Show c.830+368_830+737del	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
YBEY_chr21_46281342_46302751	46293880	ACAGCCAC others(363): Show ACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	404	0.0050	-370	c.340 others(17): Show c.340-2274_340-1905del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF511_chr10_133303914_133318161	133317774	ACACACCC others(363): Show ACACACCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCCCCCCA GACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAA GACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCA GACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAG ACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCC CAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAA AGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCC CAGACACAGAGATGGAAAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	282	0.0036	-370	c.49 others(11): Show c.4909_*5278del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4614		chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(362): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCC TGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAA CTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCC TCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGC GCAGTCTCCACTCCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	246	0.0041	-369	c.-81 others(19): Show c.-81-28818_-81-28450del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ATP11A_chr13_112685038_112892168	112785949	ATTTATCT others(362): Show ATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGC GTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAAC GCACGTGCCTGCGTTCAGACTCCATTTATCCTCACCGTCCTTCAAAATGG ATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACT GTGCTTTCCAGGTAATGCGGAACACACGTGCCTGCATTCATACTCCATTT ATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGG ACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCAC GTGCCTGCGTTCAGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00738.hp2 others(13): Show HG00597.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG02738.hp1 HG02809.hp2 HG03579.hp1 HG04184.hp1 HG04184.hp2 NA19077.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0046 a0002c0003 a0002c0010 a0003c0012 a0010c0037	a0001c0001t0001 a0001c0002t0014 a0001c0005t0020 others(6): Show a0001c0001t0001 a0001c0002t0014 a0001c0005t0020 a0001c0006t0001 a0001c0046t0016 a0002c0003t0002 a0002c0010t0022 a0003c0012t0005 a0010c0037t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 others(13): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0193 a0001c0002t0014g0197 a0001c0005t0020g0144 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0046t0016g0062 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0183 a0002c0010t0022g0072 a0003c0012t0005g0207 a0010c0037t0001g0076	16	254	0.0630	-369	c.162 others(16): Show c.162+815_162+1183del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C19orf12_chr19_29693937_29720261	29719373	AATTATAT others(362): Show AATTATATATATATAATTTATATATATATAAATATATATATAAATTATAT ATATATATAATATATATATTTATATATATAATATACATATTTATATATAT ATTATATATATTTATATATATATTATATTTATATATATTTATATATATTA TATATATATTATATATATAATATATAAATATATTTATATAATATAAATAT ATATATTTATATAATATAAATATATATATTTATATATATATAAAATATAT ATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATATAAGTTT GGACAAAGATATAGAATTATATAATATATAATATAATATATCAGTATATA TAATTGTACTATTATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01943.hp2 HG01975.hp1 others(13): Show HG01361.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 NA18942.hp1 NA18943.hp1 NA18956.hp1 NA18963.hp1 NA19057.hp2 NA19068.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0029 others(6): Show a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0029 a0001c0002t0001g0058 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0085	16	418	0.0383	-369	c.-46 others(11): Show c.-4628_-4260del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4113		chr19	TogoVar
CCNY_chr10_35331509_35577667	35549534	CCATGACC others(362): Show CCATGACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGACACATGACCC TACAGTGCTCATGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCT CGTGACCCTGCGCTGCTCATGGCCCATGACCCTACACTGTTCGTGACCCT GCGCTGCTCATGGTCCGTGACCCTACACTGCTTGTGACCCTGCGCTGCTC ATGGCCCATGACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGACACAT GACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCATGACCCTACA CTGCTCGTGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCGTG ACCCTGCGCTGCTCATGACA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp1 HG02723.hp2 others(4): Show HG01109.hp2 HG02559.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018	a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 others(4): Show a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0009g0142 a0001c0001t0017g0282 a0001c0001t0018g0001	7	296	0.0237	-369	c.580 others(17): Show c.580-3425_580-3057del	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
DGKB_chr7_14140049_14907751	14211286	ACTATGTG others(362): Show ACTATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0061 a0001c0003t0018g0061	1	148	0.0068	-369	c.212 others(21): Show c.2123-33504_2123-33136del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1033842	CGCGTGTC others(362): Show CGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCA CCGCGAGTGGACTCACACCCTCATCCCGACCCCATGTGTCACCGCGAGTG GACTCACACGCTCATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACAC CCTCATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCC GACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCG TGTCACCGCGAGGGGACTCACACCCTCATCCCGACCCCACGTGTCACCGC GAGTGGACTCACACGCTCATCCCGACCCCGCGTGTCACAGCAAGCGGGTT CACAGCCTCATCCCGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-369	c.73+ others(19): Show c.73+125895_73+126263del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1035058	GCTCATCC others(362): Show GCTCATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCC GACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCG TGTCACCGCGAGGGGACTCACACCCTCATCCCGACCCCACGTGTCACCGC GAGTGGACTCACACGCTCATCCCGACCCCGCGTGTCACAGCAAGCGGGTT CACAGCCTCATCCCGACCCTGCGTGTCACCGCGAGTGGATTCACACGCTC ATCCCGACCCCGCGTGTCACCGCGAGTGGGCTCACACCCTCATCCCGACC CCGCATGTCACCGCGAGTGGGTTCACACCCTCATCCCGACCCCGCGTGTC ACCGCGAGTGGGTTCACACC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0032 a0002c0001t0002g0032	1	40	0.0250	-369	c.73+ others(19): Show c.73+127125_73+127493del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1035099	GCTCATCC others(362): Show GCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCC GACCCCGCGTGTCACCGCGAGGGGACTCACACCCTCATCCCGACCCCACG TGTCACCGCGAGTGGACTCACACGCTCATCCCGACCCCGCGTGTCACAGC AAGCGGGTTCACAGCCTCATCCCGACCCTGCGTGTCACCGCGAGTGGATT CACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGCTCACACCCTC ATCCCGACCCCGCATGTCACCGCGAGTGGGTTCACACCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGGTTCACACCCTCATCCCGACCCCGCGTGTC ACCGCGAGTGGGTTCACAGC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG01071.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0011 a0002c0004t0026 a0002c0001t0011 a0002c0004t0026	a0002c0001t0011g0001 a0002c0004t0026g0016 a0002c0001t0011g0001 a0002c0004t0026g0016	2	40	0.0500	-369	c.73+ others(19): Show c.73+127166_73+127534del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109283	TCTCCCTC others(362): Show TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19010.hp1 NA18967.hp2 NA19010.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0318 a0002c0006t0002g0320 a0002c0006t0002g0318 a0002c0006t0002g0320	2	404	0.0050	-369	c.197 others(17): Show c.1977-736_1977-368del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109320	TCTCCCTC others(362): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01261.hp1 others(26): Show HG00323.hp1 HG01074.hp2 HG01261.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18952.hp1 NA18954.hp1 NA18964.hp1 NA19043.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(11): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0014 a0016 a0021 a0022 a0023 a0024 a0038	a0001c0003 a0001c0005 a0001c0014 others(17): Show a0001c0003 a0001c0005 a0001c0014 a0002c0006 a0002c0007 a0002c0013 a0005c0004 a0006c0009 a0007c0018 a0007c0023 a0008c0012 a0009c0019 a0009c0051 a0014c0027 a0016c0022 a0021c0038 a0022c0037 a0023c0048 a0024c0050 a0038c0045	a0001c0003t0002 a0001c0005t0001 a0001c0014t0001 others(18): Show a0001c0003t0002 a0001c0005t0001 a0001c0014t0001 a0002c0006t0002 a0002c0007t0001 a0002c0013t0002 a0005c0004t0001 a0006c0009t0001 a0007c0018t0001 a0007c0023t0001 a0008c0012t0001 a0008c0012t0008 a0009c0019t0002 a0009c0051t0005 a0014c0027t0001 a0016c0022t0001 a0021c0038t0001 a0022c0037t0001 a0023c0048t0002 a0024c0050t0001 a0038c0045t0002	a0001c0003t0002g0030 a0001c0003t0002g0258 a0001c0003t0002g0316 others(25): Show a0001c0003t0002g0030 a0001c0003t0002g0258 a0001c0003t0002g0316 a0001c0005t0001g0196 a0001c0005t0001g0202 a0001c0014t0001g0254 a0002c0006t0002g0251 a0002c0006t0002g0289 a0002c0006t0002g0290 a0002c0007t0001g0198 a0002c0013t0002g0268 a0005c0004t0001g0226 a0006c0009t0001g0335 a0007c0018t0001g0012 a0007c0023t0001g0012 a0007c0023t0001g0342 a0008c0012t0001g0106 a0008c0012t0008g0246 a0009c0019t0002g0284 a0009c0051t0005g0091 a0014c0027t0001g0029 a0016c0022t0001g0012 a0016c0022t0001g0345 a0021c0038t0001g0093 a0022c0037t0001g0341 a0023c0048t0002g0306 a0024c0050t0001g0203 a0038c0045t0002g0265	29	404	0.0718	-369	c.197 others(17): Show c.1977-702_1977-334del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBN3_chr19_8060402_8154592	8104519	CTTCTATT others(362): Show CTTCTATTAGGAACAAAATGACCTGAGTTCATGAGTCAGTTTTATAATCA CCAAGAAAGGATCATCCATGTCTTCCTAATATGATATGATAGGAATCAAG GACCTTATGGATAAAGTATTCTTGGGGGAAAAAAATTGATTCTCAATCTG GTCATTACTCTAGTCCAGGGGTAGTAAGCTTTTTCTGTAAAGGGCCAGAA CATTTTGGTTTTGCGGGCCAAACTACAGTGTGCCATGATTATTCAATCTG CCAATGTAGCAAGAAAGCAGACACAAACAATATGCAAACACACTGTGGCA CTGGCTGTGCTCCAAGGAAATTTTATTTATGGACCCCTGAAATTTGAATT TTATATAACTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0015 a0015	a0015c0051 a0015c0051	a0015c0051t0001 a0015c0051t0001	a0015c0051t0001g0215 a0015c0051t0001g0215	1	380	0.0026	-369	c.481 others(18): Show c.4814-1201_4814-833del	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	38/63			chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805676	CCCCTCAG others(362): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	314	0.0032	-369	c.15 others(11): Show c.1511_*1879del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1390		chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834509	TGAGGAAG others(362): Show TGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG AGGTCTGGACTCCTGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	394	0.0025	-369	c.128 others(15): Show c.128-520_128-152del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSPBAP1_chr3_122734999_122798831	122780202	CCTCCCGG others(362): Show CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGACGG GGGGCTGAACCCCCAACTCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	350	0.0029	-369	c.65- others(15): Show c.65-2665_65-2297del	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7			chr3	TogoVar
LYPD8_chr1_248734415_248760759	248747351	GCACCCAC others(362): Show GCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCA CCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCAC GGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGG CATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGC ACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCC CGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACC CAGGGCATCCCCCGCACGGC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	374	0.0027	-369	c.337 others(15): Show c.337+569_337+937del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876829	TGGAGGTT others(362): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGT TATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0024 a0001c0024t0002g0024	1	274	0.0037	-369	c.224 others(19): Show c.2242-5175_2242-4807del	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NEU4_chr2_241804193_241822413	241805676	CCCCTCAG others(362): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0001 a0009c0010t0001g0001	1	319	0.0031	-369	c.-36 others(11): Show c.-3601_-3233del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3516		chr2	TogoVar
NKD2_chr5_1003802_1043943	1023363	GCTGTGGG others(362): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCTC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATT GCCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19065.hp1 NA18973.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0031 a0002c0003t0002g0019 a0001c0001t0002g0031 a0002c0003t0002g0019	2	319	0.0063	-369	c.142 others(17): Show c.142-8777_142-8409del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)