Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(182): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02258.hp1 HG02258.hp2 others(4): Show HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp1 HG03195.hp2 NA18522.hp2 NA18906.hp2	a0002 a0003 a0043 others(1): Show a0002 a0003 a0043 a0056	a0002c0003 a0003c0002 a0043c0080 others(1): Show a0002c0003 a0003c0002 a0043c0080 a0056c0048	a0002c0003t0001 a0002c0003t0002 a0003c0002t0001 others(2): Show a0002c0003t0001 a0002c0003t0002 a0003c0002t0001 a0043c0080t0001 a0056c0048t0001	a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0002g0175 others(4): Show a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0002g0175 a0003c0002t0001g0220 a0003c0002t0001g0228 a0043c0080t0001g0251 a0056c0048t0001g0008	7	268	0.0261	-189	c.909 others(19): Show c.9097-1840_9097-1652del		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827174	ATGTGCAG others(182): Show ATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATA TATAATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATG TGATTATATATAGTGTGCAGTTATATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03139.hp1 others(1): Show HG01891.hp1 HG02451.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088	4	268	0.0149	-189	c.909 others(19): Show c.9097-1813_9097-1625del		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827228	ATGTGCAG others(182): Show ATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATA TATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATG TGATTATATATAGTGTGCAGTTATATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 HG02970.hp1 HG03516.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0001 a0026c0025t0001	a0026c0025t0001g0002 a0026c0025t0001g0003 a0026c0025t0001g0002 a0026c0025t0001g0003	2	268	0.0075	-189	c.909 others(19): Show c.9097-1590_9097-1402del		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP99_chr4_2413955_2468002	2430125	ATAAACCA others(182): Show ATAAACCAAACGGCAGACTCCGGACAGCGGACTGCGGTGAAATGCCAGAA AATTACGCAATACATAAACCAAACGGCAGACTCCGGACAGCGGACTGCGG TGAAATGCCAGAAAATTACGCAATACGTAAACCAAACGGCAGACTGCGGA CAGCAGACTGCGGTGAAATGCCAGAAAATTACGCAATACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(117): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0009 a0011 a0016	a0001c0002 a0001c0003 a0001c0006 others(16): Show a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0015 a0001c0025 a0001c0032 a0002c0001 a0002c0005 a0002c0026 a0002c0027 a0002c0031 a0002c0039 a0003c0007 a0004c0008 a0007c0014 a0009c0038 a0011c0037 a0016c0036	a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 others(17): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0001c0013t0001 a0001c0015t0001 a0001c0025t0001 a0001c0032t0001 a0002c0001t0001 a0002c0001t0004 a0002c0005t0001 a0002c0026t0001 a0002c0027t0001 a0002c0031t0001 a0002c0039t0001 a0003c0007t0001 a0004c0008t0001 a0007c0014t0001 a0009c0038t0001 a0011c0037t0001 a0016c0036t0002	a0001c0002t0001g0018 a0001c0002t0001g0287 a0001c0002t0001g0288 others(101): Show a0001c0002t0001g0018 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0298 a0001c0003t0001g0019 a0001c0003t0001g0174 a0001c0003t0001g0218 a0001c0003t0001g0247 a0001c0003t0001g0258 a0001c0003t0001g0293 a0001c0006t0002g0034 a0001c0006t0002g0173 a0001c0013t0001g0046 a0001c0015t0001g0285 a0001c0025t0001g0269 a0001c0032t0001g0261 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0047 a0002c0001t0001g0175 a0002c0001t0001g0211 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0225 a0002c0001t0001g0228 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0248 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0275 a0002c0001t0001g0279 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0286 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0295 a0002c0001t0001g0296 a0002c0001t0001g0299 a0002c0001t0001g0301 a0002c0001t0001g0304 a0002c0001t0004g0224 a0002c0005t0001g0007 a0002c0005t0001g0048 a0002c0005t0001g0226 a0002c0005t0001g0244 a0002c0005t0001g0257 a0002c0005t0001g0263 a0002c0005t0001g0274 a0002c0005t0001g0276 a0002c0005t0001g0277 a0002c0005t0001g0300 a0002c0026t0001g0020 a0002c0027t0001g0278 a0002c0031t0001g0294 a0002c0039t0001g0001 a0003c0007t0001g0250 a0003c0007t0001g0259 a0003c0007t0001g0260 a0003c0007t0001g0268 a0003c0007t0001g0297 a0004c0008t0001g0003 a0004c0008t0001g0217 a0004c0008t0001g0229 a0004c0008t0001g0249 a0004c0008t0001g0266 a0007c0014t0001g0262 a0009c0038t0001g0292 a0011c0037t0001g0280 a0016c0036t0002g0035	120	350	0.3429	-189	c.111 others(17): Show c.111+3602_111+3790del		CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2430243	CGCAATAC others(182): Show CGCAATACGTAAACCAAACGGCAGACTGCGGACAGCAGACTGCGGTGAAA TGCCAGAAAATTACGCAATACGTAAACCAAACGGCAGACTCCGGACAGCG GACTGCGGTGAAATGCCAGAAAATTACGCAATACGTAAACCAAACGGCAG ACTCCGGACAGCGGACTGCGGTGAAATGCCAGAAAATTAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01255.hp2 others(24): Show HG00735.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01975.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG04184.hp1 NA18953.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0035 a0002c0001 a0006c0028 a0006c0029 a0008c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(8): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0006t0001 a0001c0035t0001 a0002c0001t0001 a0006c0028t0001 a0006c0029t0001 a0008c0011t0001	a0001c0002t0001g0022 a0001c0002t0001g0049 a0001c0002t0001g0207 others(23): Show a0001c0002t0001g0022 a0001c0002t0001g0049 a0001c0002t0001g0207 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0314 a0001c0002t0003g0306 a0001c0002t0003g0312 a0001c0003t0001g0058 a0001c0003t0001g0089 a0001c0003t0001g0124 a0001c0003t0001g0172 a0001c0003t0001g0315 a0001c0003t0005g0313 a0001c0004t0001g0063 a0001c0004t0001g0305 a0001c0004t0001g0311 a0001c0006t0001g0167 a0001c0006t0001g0168 a0001c0035t0001g0030 a0002c0001t0001g0114 a0006c0028t0001g0170 a0006c0029t0001g0171 a0008c0011t0001g0090 a0008c0011t0001g0091	27	350	0.0771	-189	c.111 others(17): Show c.111+3684_111+3872del		CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
CLN8_chr8_1758789_1791570	1763383	GCGCCCGC others(182): Show GCGCCCGCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGC GCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG CGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0022 a0001c0001t0033g0022	1	413	0.0024	-189	c.-62 others(9): Show c.-625_-437del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					405		chr8	TogoVar
CTNNA1_chr5_138748425_138940034	138776159	GTCTCTGG others(182): Show GTCTCTGGTTTTCCTATGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGT GTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATG CTGCCTTCAAGCATCTGTTCAACAAAGCACATCTTGCACCACCTCAATCC ATTCAACCCTGAGTGGACACACCACATGTTTCAGAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp2 NA18983.hp2 others(1): Show HG00438.hp2 HG02074.hp2 NA18983.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046	4	180	0.0222	-189	c.-2- others(15): Show c.-2-5763_-2-5575del		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17						chr5	TogoVar
DCDC2C_chr2_3698575_3853008	3775778	GGCTGTGG others(182): Show GGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGG GCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCA GCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGC TCTGAGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(54): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01496.hp1 HG01943.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02293.hp1 HG03239.hp1 HG03942.hp1 NA18612.hp1 NA18941.hp1 NA18953.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0003 a0001c0002t0007 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0003	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 others(54): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0027 a0001c0001t0002g0098 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0267 a0001c0001t0004g0282 a0001c0001t0004g0300 a0001c0001t0005g0049 a0001c0001t0005g0322 a0001c0001t0006g0116 a0001c0001t0006g0144 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0009g0060 a0001c0001t0009g0273 a0001c0001t0009g0278 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0007g0130 a0001c0002t0007g0131 a0002c0003t0001g0204 a0002c0003t0003g0189 a0002c0003t0003g0191 a0002c0004t0001g0187 a0002c0004t0003g0181 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0202 a0002c0004t0003g0203	57	324	0.1759	-189	c.955 others(17): Show c.955-3013_955-2825del		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX53_chrX_22994960_23008589	23002544	CGTGTTGG others(182): Show CGTGTTGGTTAAAGTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTT GGGGGTATATGTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGTTTAT CAACTTTCAATATTGTGTATGTTCCTTAATTTTAAAAAAGTCTCAAAAAT GAGAGAGTGAGAGACTATGTGAAGAGAAAGTAAATGTTAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	358	0.0028	-189	c.69 others(9): Show c.690_*878del		DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1				690	INFO_REALIGN_3_PRIME	chrX	TogoVar
DGKB_chr7_14140049_14907751	14212111	TTTTACTC others(182): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0094 a0001c0003t0003g0094	1	148	0.0068	-189	c.212 others(21): Show c.2123-34149_2123-33961del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14212132	TTTTACTC others(182): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0139 a0002c0005t0006g0139	1	148	0.0068	-189	c.212 others(21): Show c.2123-34170_2123-33982del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DLGAP2_chr8_732628_1713476	1013937	GTGACCAG others(182): Show GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-189	c.73+ others(19): Show c.73+105987_73+106175del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014812	AGACGACG others(182): Show AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGT GAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGG CGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-189	c.73+ others(19): Show c.73+106851_73+107039del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1073949	GTGAGGCT others(182): Show GTGAGGCTGAACTCACCCAGGTACATATTCAGGAGTCACTGTAACAGAAG GGTTTGCAGCAGACTGAAGCTGAACTCACCCAGGTACATATTCAGGATTC ACTGTCACAGAAGGGTTTGCAGCAGACTGAGGCTGAACTCACCCAGGTAC ATATTCAGGATTCACTGTCACAGAAGGGTTTGCAGCAGAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02922.hp2 others(5): Show HG02647.hp1 HG02818.hp1 HG02922.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(2): Show a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0002c0001	a0001c0002t0006 a0001c0002t0027 a0001c0003t0013 others(5): Show a0001c0002t0006 a0001c0002t0027 a0001c0003t0013 a0001c0003t0017 a0001c0009t0012 a0001c0011t0015 a0002c0001t0005 a0002c0001t0019	a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007 others(5): Show a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0011t0015g0002 a0002c0001t0005g0035 a0002c0001t0019g0030	8	40	0.2000	-189	c.73+ others(19): Show c.73+166088_73+166276del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK1_chr10_126900428_127457516	126916863	TGGTGTTT others(182): Show TGGTGTTTCAGAATTCCAGTTTGTCACAGTGCAGAGAGACAGGTGGGAGC TGTGTGAGGCCAGCGGTGTTTCAGAATTCCAGTTTGTCACAGTGCAGAGA GACAGGTGGGAGCTGTGCGAGGCCAGCGGTGTTTCAGAATTCCAGTTTGT CACAGTGCAGAGAGACAGGTGGGAGCTGTGCGAGGCCAGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01361.hp2 others(10): Show HG00738.hp1 HG01123.hp1 HG01361.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02698.hp2 HG03098.hp1 HG03225.hp2 HG03834.hp2 NA18522.hp2 NA18747.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0007 others(8): Show a0001c0001 a0001c0005 a0001c0007 a0001c0015 a0001c0042 a0001c0073 a0003c0003 a0003c0019 a0003c0043 a0004c0032 a0005c0014	a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0006 a0001c0007t0001 a0001c0015t0001 a0001c0042t0006 a0001c0073t0001 a0003c0003t0003 a0003c0019t0003 a0003c0043t0003 a0004c0032t0004 a0005c0014t0009	a0001c0001t0002g0021 a0001c0001t0003g0050 a0001c0005t0001g0022 others(10): Show a0001c0001t0002g0021 a0001c0001t0003g0050 a0001c0005t0001g0022 a0001c0005t0006g0134 a0001c0007t0001g0020 a0001c0015t0001g0068 a0001c0042t0006g0018 a0001c0073t0001g0019 a0003c0003t0003g0088 a0003c0019t0003g0051 a0003c0043t0003g0042 a0004c0032t0004g0106 a0005c0014t0009g0078	13	136	0.0956	-189	c.46+ others(17): Show c.46+11354_46+11542del		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DUSP22_chr6_287487_356355	325750	GGAGAGTC others(182): Show GGAGAGTCATCTGCCCTGGGCTTCTGCGTTCTGGTGTGTGCAGTGCTGTA TCTGCTGGTGCCTGGAGAGTCATCTGCCCTGGGCTTCCGCGTCCTGGTGT GTGCAATGCTGTATCTGCTGGTGTCTGGAGTCATCTTCCCTGGGCTTCTG CGTCCTGGTGTGTGCAGTGCTGTATCTGCTGGTGCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19060.hp1 NA18973.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0189 a0001c0002t0002g0190	2	221	0.0091	-189	c.139 others(17): Show c.139-9360_139-9172del		DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
EIF3B_chr7_2349827_2385745	2377759	TGTGTTCT others(182): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGG GTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	384	0.0026	-189	c.215 others(17): Show c.2154+745_2155-681del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377823	CGTGTTCT others(182): Show CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGA GAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0352 a0002c0002t0001g0352	1	384	0.0026	-189	c.215 others(17): Show c.2154+776_2155-650del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
ENTREP2_chr15_29115252_29575979	29356105	TTAAAACA others(182): Show TTAAAACAAGTGCATCTTGTTCTATGTGAGGATGTGAGGATGAGAAGATT TTTATCTTTGGTTTTGGTAATTTGATAAATGTAGGGTTGAGGATACTTTT GAAAAATCAACAAGATGGTCTAGAAGTGAAGAAGATATGAAATGTATATA TATGTGTGTGTGTGTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	125	0.0080	-189	c.276 others(19): Show c.276+25481_276+25669del		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10						chr15	TogoVar
ERC1_chr12_986223_1500931	1090643	TATTATTA others(182): Show TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	162	0.0062	-189	c.108 others(19): Show c.1086+7073_1086+7261del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
F10_chr13_113117799_113154529	113151546	CCGAGAGC others(182): Show CCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATT CCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAG AGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCC TGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0360 a0001c0002t0001g0360	1	412	0.0024	-189	c.20 others(11): Show c.2030_*2218del		F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding					2018		chr13	TogoVar
FAM171A1_chr10_15206643_15376289	15229642	CCATCACC others(182): Show CCATCACCATCATCACCATTGTCACCCCCATCACCATCATCACCATCACC ACCATCACCATCATCATCATCACCACCATCACCATCATCACCATCACCCC CATCACCATCATCACCATCACCACCATCACCATCATCACCATCACCACCA TCACCATCATCACCATCACCACCACCATCACCATCATCAT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18968.hp1 NA18966.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0098 a0001c0001t0002g0048 a0001c0001t0002g0098	2	303	0.0066	-189	c.755 others(17): Show c.755-8771_755-8583del		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7						chr10	TogoVar
FBLN7_chr2_112133385_112193218	112139562	CGTCCCTC others(182): Show CGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG CTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTC TCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	346	0.0029	-189	c.75+ others(14): Show c.75+883_75+1071del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132563011	ACCTGGCC others(182): Show ACCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACC CCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTG CACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAG CCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02615.hp2 others(6): Show HG02109.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0025	a0000c0030 a0001c0011 a0002c0050 others(1): Show a0000c0030 a0001c0011 a0002c0050 a0025c0056	a0000c0030t0019 a0001c0011t0019 a0001c0011t0039 others(5): Show a0000c0030t0019 a0001c0011t0019 a0001c0011t0039 a0001c0011t0040 a0001c0011t0046 a0001c0011t0049 a0002c0050t0001 a0025c0056t0052	a0000c0030t0019g0145 a0000c0030t0019g0147 a0001c0011t0019g0146 others(6): Show a0000c0030t0019g0145 a0000c0030t0019g0147 a0001c0011t0019g0146 a0001c0011t0039g0339 a0001c0011t0040g0338 a0001c0011t0046g0239 a0001c0011t0049g0340 a0002c0050t0001g0090 a0025c0056t0052g0085	9	348	0.0259	-189	c.646 others(17): Show c.646-4395_646-4207del		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRMPD3_chrX_107444652_107610251	107501344	TTGTCTCC others(182): Show TTGTCTCCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02622.hp1 others(14): Show HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0006 a0010c0017	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0018 a0001c0004t0001 a0001c0005t0002 a0002c0006t0002 a0010c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0006g0009 a0001c0001t0006g0020 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0018g0176 a0001c0004t0001g0007 a0001c0005t0002g0019 a0002c0006t0002g0172 a0002c0006t0002g0174 a0002c0006t0002g0177 a0002c0006t0002g0178 a0002c0006t0002g0179 a0002c0006t0002g0182 a0010c0017t0001g0014	17	183	0.0929	-189	c.-7- others(17): Show c.-7-25223_-7-25035del		FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
GALNT9_chr12_132191372_132334589	132231598	CACACACT others(182): Show CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02976.hp2 others(1): Show HG01175.hp1 HG02280.hp1 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 others(1): Show a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089	4	183	0.0219	-189	c.107 others(21): Show c.1077+16123_1077+16311del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231636	CCCCTAGT others(182): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTG CTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG03209.hp2 others(2): Show HG00408.hp1 HG00408.hp2 HG03209.hp2 NA18952.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 others(1): Show a0001c0001 a0001c0011 a0001c0013 a0001c0034	a0001c0001t0011 a0001c0011t0001 a0001c0013t0004 others(1): Show a0001c0001t0011 a0001c0011t0001 a0001c0013t0004 a0001c0034t0004	a0001c0001t0011g0050 a0001c0011t0001g0057 a0001c0011t0001g0129 others(2): Show a0001c0001t0011g0050 a0001c0011t0001g0057 a0001c0011t0001g0129 a0001c0013t0004g0124 a0001c0034t0004g0158	5	183	0.0273	-189	c.107 others(21): Show c.1077+16085_1077+16273del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232202	CGTGGAGT others(182): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAG CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	183	0.0055	-189	c.107 others(21): Show c.1077+15519_1077+15707del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345045	CGTAGCCT others(182): Show CGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCT CTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCT GTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC AGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp2 HG02056.hp2 others(9): Show HG00099.hp1 HG00408.hp2 HG02056.hp2 HG02615.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03471.hp1 HG04204.hp2 NA20129.hp2 NA20905.hp1	a0009 a0014 a0045 others(1): Show a0009 a0014 a0045 a0046	a0009c0009 a0014c0026 a0014c0027 others(2): Show a0009c0009 a0014c0026 a0014c0027 a0045c0044 a0046c0045	a0009c0009t0003 a0009c0009t0011 a0009c0009t0017 others(4): Show a0009c0009t0003 a0009c0009t0011 a0009c0009t0017 a0014c0026t0003 a0014c0027t0011 a0045c0044t0003 a0046c0045t0046	a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 others(7): Show a0009c0009t0003g0035 a0009c0009t0003g0103 a0009c0009t0011g0121 a0009c0009t0017g0034 a0014c0026t0003g0153 a0014c0026t0003g0154 a0014c0027t0011g0155 a0014c0027t0011g0156 a0045c0044t0003g0105 a0046c0045t0046g0054	12	301	0.0399	-189	c.626 others(7): Show c.626_814del	p.His others(13): Show p.His209_Leu271del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	914/4452	626/1569	209/522			chr15	TogoVar
GOLGA8A_chr15_34374068_34442808	34437525	CCGCGCCG others(182): Show CCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTC GCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCT CGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCC TCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01192.hp1 HG01496.hp1 others(8): Show HG00438.hp1 HG01192.hp1 HG01496.hp1 HG01978.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 NA18612.hp1 NA18952.hp1 NA18970.hp2 NA19012.hp2	a0002 a0020 a0002 a0020	a0002c0002 a0020c0018 a0002c0002 a0020c0018	a0002c0002t0004 a0002c0002t0031 a0020c0018t0004 a0002c0002t0004 a0002c0002t0031 a0020c0018t0004	a0002c0002t0004g0172 a0002c0002t0004g0173 a0002c0002t0004g0174 others(7): Show a0002c0002t0004g0172 a0002c0002t0004g0173 a0002c0002t0004g0174 a0002c0002t0004g0175 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0004g0178 a0002c0002t0004g0179 a0002c0002t0031g0001 a0020c0018t0004g0171	11	245	0.0449	-189	c.-15 others(11): Show c.-1528_-1340del		GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25				47835		chr15	TogoVar
HNF1A_chr12_120973543_121007512	120987987	GTCCATCC others(182): Show GTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATC CATTCATCCAACCATCCATCCATCCATCATCCATCCACCCACCCACCCAC CAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCCA CCCACCCACCCACCAATCCATCCATCCATTCATCCAACCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02738.hp1 NA19010.hp1 HG01099.hp1 HG02738.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0262 a0002c0002t0002g0281 a0002c0002t0002g0258 a0002c0002t0002g0262 a0002c0002t0002g0281	3	410	0.0073	-189	c.327 others(15): Show c.327-692_327-504del		HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
IDI1_chr10_1034419_1054119	1038781	TTCCCACA others(182): Show TTCCCACAGGGACGCACTGCGGGTACGACCTGGACGTGTCCCCAGGGAGC AGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGGGTACGACCTGGACGT GTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGGGT ACGACCTGGACTTGTCCCCATGGAGCAGGTGGAGGGCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	438	0.0046	-189	c.22 others(11): Show c.2217_*2405del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding					637		chr10	TogoVar
IDI1_chr10_1034419_1054119	1038816	GTGTCCCC others(182): Show GTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGG GTACGACCTGGACGTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAG GGACGCACTGCGGGTACGACCTGGACTTGTCCCCATGGAGCAGGTGGAGG GCAGGTCCCACAGGGACGCACTGCGGGTACGACCTGGACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(53): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02080.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03654.hp1 HG04199.hp1 NA18943.hp2 NA18960.hp2 NA18973.hp1 NA18977.hp2 NA18995.hp2 NA19002.hp2 NA19006.hp2 NA19086.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117	56	438	0.1279	-189	c.21 others(11): Show c.2182_*2370del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding					602		chr10	TogoVar
IL3RA_chrX_1331785_1387689	1366083	GGGGTGCG others(182): Show GGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTG AGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	115	0.0087	-189	c.874 others(16): Show c.874+837_874+1025del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB2_chr21_44880953_44925899	44885209	GGCTGGAG others(182): Show GGCTGGAGGGGAGGTGTAGAATGCTGGAGGGGAGGTGCAGACGGCTGGAG AGGAGGTGTATACGGCTGGAGGGGAGGTGTAGACTGCTGGAGGGGAGGTG TAGATGGCTGGAGAGGAGGTGTAGACGGCTGGAGGGGAGGTGTAGACTGC TGGAGGGGAGGTGCAGACGGCTGGAGAAGAGGTGTAGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0406 a0001c0006t0004g0406	1	444	0.0023	-189	c.97 others(10): Show c.970_*1158del		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					743		chr21	TogoVar
ITIH2_chr10_7698316_7754520	7737617	CTATATTA others(182): Show CTATATTATATTCTATATTCTATAGAATATTCTATATTATATTCTATATT ATATTCTATATTTTCTATATTATATTCTATATAATATTCTATATTATATT CTATATAATATTCTATATTATATTCTATATAATATTCTATATTATATTCT ATATAATATTCTATATTATATTCTATATAATATTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 HG03195.hp1 HG01081.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0278 a0001c0001t0001g0357 a0001c0001t0001g0011 a0001c0001t0001g0278 a0001c0001t0001g0357	3	380	0.0079	-189	c.195 others(17): Show c.1958-997_1958-809del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF3C_chr2_25921598_25987497	25962852	TATAATAT others(182): Show TATAATATATAATATATATAATATATAAAATATATATAATATAAAATATA TATAATATATAATATATATAATATATAATACATATAATATATAATATATA ATATATAATATATATAATATATAATATATAATATATAATATATATAATAT ATAATATATAATATATATAATATATAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02965.hp1 others(2): Show HG02145.hp1 HG02559.hp1 HG02965.hp1 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0005g0003 others(1): Show a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0005g0003 a0001c0002t0005g0170	5	240	0.0208	-189	c.154 others(19): Show c.1546-6597_1546-6409del		KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7						chr2	TogoVar
KLHL17_chr1_955584_970719	964575	GGCTGTGG others(182): Show GGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGAT GTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02109.hp1 others(28): Show HG01099.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0013 others(1): Show a0001c0001 a0001c0007 a0001c0013 a0001c0022	a0001c0001t0002 a0001c0001t0018 a0001c0007t0002 others(2): Show a0001c0001t0002 a0001c0001t0018 a0001c0007t0002 a0001c0013t0002 a0001c0022t0002	a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0061 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0018g0006 a0001c0007t0002g0011 a0001c0007t0002g0071 a0001c0013t0002g0006 a0001c0022t0002g0006	31	432	0.0718	-189	c.170 others(16): Show c.1700+50_1701-195del		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124506701	GTAGGGAA others(182): Show GTAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGGG TAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGGGGTA GGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG02015.hp1 others(4): Show HG00738.hp1 HG01346.hp2 HG02015.hp1 HG03239.hp1 HG04199.hp1 NA18965.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0236	7	260	0.0269	-189	c.624 others(17): Show c.624+8574_624+8762del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LRCH1_chr13_46548170_46749898	46651882	GTTTTGTT others(182): Show GTTTTGTTTTGTTTTGTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCGGCCACCAGGCCTGCTGATGTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01169.hp2 others(19): Show HG00099.hp2 HG00423.hp2 HG01169.hp2 HG01257.hp2 HG01891.hp2 HG02165.hp1 HG02647.hp1 HG03471.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18955.hp2 NA18960.hp1 NA18974.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0002t0022 a0001c0003t0004	a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0001t0001g0255 others(19): Show a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0002g0055 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0029 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0010g0264 a0001c0001t0015g0260 a0001c0001t0015g0261 a0001c0001t0015g0262 a0001c0002t0022g0106 a0001c0003t0004g0034	22	274	0.0803	-189	c.452 others(17): Show c.452+1647_452+1835del		LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
LYPD8_chr1_248734415_248760759	248746678	GCCCGCAC others(182): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCC GCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCC AGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	374	0.0027	-189	c.337 others(17): Show c.337+1422_338-1400del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MCF2_chrX_139576770_139713167	139709292	GTATAGTA others(182): Show GTATAGTATATATAGCATATACTATATACATAGCATATATAGCATATACT ATATACATAGCATATATAGCATATACTATATACATAGCATATATAGCATA TACTATATACATAGCATATATAGCATATACTATATACATAGTATATATAG CATATACTATGTATATAGTATATGCTATATATACTATGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02004.hp1 HG02071.hp1 others(19): Show HG01952.hp1 HG02004.hp1 HG02071.hp1 HG02083.hp1 NA18943.hp1 NA18950.hp1 NA18953.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18990.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19063.hp1 NA19077.hp1 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 others(19): Show a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0006t0001g0223 a0001c0006t0001g0224	22	249	0.0884	-189	c.-14 others(11): Show c.-1420_-1232del		MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding					1126		chrX	TogoVar
MPPED1_chr22_43407014_43512848	43499984	TGATGGTG others(182): Show TGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTG AGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GATGGCGATGGAGGTGGTAGTGGGGGTGATGAAGGTGGTGATGGAGGTGG TAATGGAGGTGGTGGGGGTGGTGGTGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	250	0.0040	-189	c.748 others(17): Show c.748+1636_748+1824del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MYOM2_chr8_2040046_2150456	2054898	CAAGTACC others(182): Show CAAGTACCTGGATACTGGGGAACCAAGTACCTGGATAATGGGGGAACGAA GTACCTGGATACTGGGGGAACCAAGTACCTGGATACTGGGGGGACGAAGT ACCTGGATACTGGGGAACCAAGTACCTGGATACTGGGGAACCAAGTACCT GGATACTGGGGGAACGAAGTACCTGGATACTGGGGGAACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00733.hp2 others(52): Show HG00140.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02273.hp2 HG02602.hp2 HG02735.hp2 HG02970.hp1 HG03654.hp1 HG04184.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18986.hp1 NA18993.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19068.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0013 a0014 a0017 a0023 a0035 a0055 a0057 a0064 a0066 a0067 a0072 a0074 a0082 a0090	a0001c0002 a0001c0003 a0001c0009 others(35): Show a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0001c0024 a0001c0039 a0001c0084 a0001c0116 a0001c0145 a0002c0048 a0002c0088 a0002c0105 a0003c0001 a0003c0152 a0004c0007 a0004c0051 a0005c0109 a0007c0010 a0007c0100 a0009c0012 a0009c0160 a0013c0031 a0014c0044 a0014c0113 a0014c0139 a0017c0026 a0017c0173 a0023c0021 a0035c0125 a0055c0169 a0057c0167 a0064c0163 a0066c0079 a0067c0076 a0072c0143 a0074c0126 a0082c0111 a0090c0187	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(39): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0009t0002 a0001c0014t0001 a0001c0024t0002 a0001c0039t0001 a0001c0084t0001 a0001c0116t0001 a0001c0145t0002 a0002c0048t0003 a0002c0088t0002 a0002c0105t0001 a0003c0001t0001 a0003c0152t0001 a0004c0007t0001 a0004c0051t0001 a0005c0109t0002 a0007c0010t0001 a0007c0100t0001 a0009c0012t0001 a0009c0012t0002 a0009c0160t0001 a0013c0031t0001 a0014c0044t0001 a0014c0113t0001 a0014c0139t0001 a0017c0026t0001 a0017c0173t0002 a0023c0021t0001 a0035c0125t0001 a0055c0169t0001 a0057c0167t0001 a0064c0163t0001 a0066c0079t0001 a0067c0076t0001 a0072c0143t0001 a0074c0126t0001 a0082c0111t0002 a0090c0187t0001	a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0383 others(52): Show a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0383 a0001c0002t0002g0371 a0001c0003t0001g0014 a0001c0003t0001g0362 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0002g0361 a0001c0003t0002g0368 a0001c0009t0001g0365 a0001c0009t0001g0366 a0001c0009t0002g0010 a0001c0009t0002g0015 a0001c0014t0001g0026 a0001c0024t0002g0025 a0001c0039t0001g0012 a0001c0039t0001g0363 a0001c0084t0001g0350 a0001c0116t0001g0016 a0001c0145t0002g0364 a0002c0048t0003g0128 a0002c0048t0003g0199 a0002c0088t0002g0023 a0002c0105t0001g0341 a0003c0001t0001g0114 a0003c0001t0001g0200 a0003c0001t0001g0351 a0003c0152t0001g0370 a0004c0007t0001g0336 a0004c0051t0001g0360 a0005c0109t0002g0115 a0007c0010t0001g0367 a0007c0100t0001g0337 a0009c0012t0001g0374 a0009c0012t0002g0113 a0009c0160t0001g0352 a0013c0031t0001g0376 a0014c0044t0001g0357 a0014c0113t0001g0344 a0014c0139t0001g0359 a0017c0026t0001g0375 a0017c0173t0002g0024 a0023c0021t0001g0354 a0023c0021t0001g0355 a0035c0125t0001g0356 a0055c0169t0001g0019 a0057c0167t0001g0399 a0064c0163t0001g0390 a0066c0079t0001g0017 a0067c0076t0001g0011 a0072c0143t0001g0369 a0074c0126t0001g0018 a0082c0111t0002g0353 a0090c0187t0001g0022	55	403	0.1365	-189	c.264 others(17): Show c.264-2430_264-2242del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085617	GCCCCCCA others(182): Show GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0085 a0085	a0085c0110 a0085c0110	a0085c0110t0001 a0085c0110t0001	a0085c0110t0001g0194 a0085c0110t0001g0194	1	403	0.0025	-189	c.164 others(17): Show c.1644+232_1644+420del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NOL10_chr2_10565754_10694975	10587072	TATATACA others(182): Show TATATACATATATATACATATATATACACATATATATACATATATATACA TATATATACATATATACACATATATATACATATATACACATATATACACA TATATATACACATATATATACACATATATATACACATATATATATACATA TATATACATATATATATACATACATATATATATATACACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18906.hp2 HG01069.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0005 a0001c0001t0001g0009	2	372	0.0054	-189	c.184 others(19): Show c.1844+1782_1844+1970del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10587077	ACATATAT others(182): Show ACATATATATACATATATATACACATATATATACATATATATACATATAT ATACATATATACACATATATATACATATATACACATATATACACATATAT ATACACATATATATACACATATATATACACATATATATATACATATATAT ACATATATATATACATACATATATATATATACACATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	372	0.0027	-189	c.184 others(19): Show c.1844+1777_1844+1965del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NTM_chr11_131365615_132341822	131789421	AAGAAGAA others(182): Show AAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	86	0.0116	-189	c.83- others(19): Show c.83-122141_83-121953del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	948956	CCTGCCTC others(182): Show CCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTCC TCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	242	0.0041	-189	c.360 others(19): Show c.360+30174_360+30362del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
P2RY8_chrX_1457581_1542185	1514398	CTTTCCTC others(182): Show CTTTCCTCCCCTCCCTTCCCTTCCCTTCCTTTCCCTTCTCTTCCCTTCCC TTCCCTCCCTTCCCCTCCTTTTCCTTTCCTTTTCCTTTTCCTTTCCCTTC CCTCCCTTCCCTTCCCTTTCCTCCCCTCCCTTCCCTTCCCTTCCTTTCCC TTCTCTTCCCTTCCCTTCCCTCCCTTCCCTTCCTTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0027 a0001c0001t0022g0027	1	114	0.0088	-189	c.-25 others(19): Show c.-25+22334_-25+22522del		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar

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