Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
RASSF8_chr12_25953682_26077869	25971570	GAAAAAAA others(3): Show GAAAAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG02257.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0059 a0001c0006t0058 a0001c0001t0059 a0001c0006t0058	a0001c0001t0059g0295 a0001c0006t0058g0296 a0001c0001t0059g0295 a0001c0006t0058g0296	2	396	0.0051	-10	c.-20 others(31): Show c.-203+12434_-203+12443delAAAAAAAGAA	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF8_chr12_25953682_26077869	26005164	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02723.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0321 a0001c0001t0025g0322 a0001c0001t0025g0321 a0001c0001t0025g0322	2	396	0.0051	-10	c.-10 others(31): Show c.-109+10049_-109+10058delGTGTGTGTGT	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF8_chr12_25953682_26077869	26019563	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(64): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG01070.hp2 HG01192.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18955.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(21): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0053 a0001c0001t0059 a0001c0002t0006 a0001c0002t0014 a0001c0003t0003 a0001c0003t0011 a0001c0003t0026 a0003c0008t0019	a0001c0001t0003g0334 a0001c0001t0003g0367 a0001c0001t0004g0284 others(63): Show a0001c0001t0003g0334 a0001c0001t0003g0367 a0001c0001t0004g0284 a0001c0001t0006g0014 a0001c0001t0006g0215 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0006g0288 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0302 a0001c0001t0009g0303 a0001c0001t0009g0305 a0001c0001t0009g0307 a0001c0001t0009g0316 a0001c0001t0009g0317 a0001c0001t0009g0318 a0001c0001t0009g0320 a0001c0001t0010g0255 a0001c0001t0011g0361 a0001c0001t0012g0019 a0001c0001t0012g0020 a0001c0001t0012g0021 a0001c0001t0012g0022 a0001c0001t0016g0289 a0001c0001t0016g0290 a0001c0001t0016g0291 a0001c0001t0022g0023 a0001c0001t0022g0024 a0001c0001t0023g0025 a0001c0001t0028g0327 a0001c0001t0028g0328 a0001c0001t0031g0135 a0001c0001t0031g0146 a0001c0001t0038g0319 a0001c0001t0039g0299 a0001c0001t0040g0304 a0001c0001t0045g0275 a0001c0001t0053g0271 a0001c0001t0059g0295 a0001c0002t0006g0269 a0001c0002t0014g0306 a0001c0003t0003g0292 a0001c0003t0003g0294 a0001c0003t0011g0293 a0001c0003t0026g0300 a0001c0003t0026g0301 a0003c0008t0019g0308 a0003c0008t0019g0315	67	396	0.1692	-10	c.-10 others(31): Show c.-109+24465_-109+24474delGTGTGTGTGT	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF8_chr12_25953682_26077869	26019595	GTGTGTGT others(3): Show GTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03098.hp2 HG03471.hp1 others(1): Show HG02896.hp2 HG03098.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0037 a0001c0004t0011 a0001c0004t0037	a0001c0004t0011g0310 a0001c0004t0011g0311 a0001c0004t0011g0312 others(1): Show a0001c0004t0011g0310 a0001c0004t0011g0311 a0001c0004t0011g0312 a0001c0004t0037g0324	4	396	0.0101	-10	c.-10 others(31): Show c.-109+24483_-109+24492delGTCTGTGTGT	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF8_chr12_25953682_26077869	26038608	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00741.hp2 others(53): Show HG00408.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01993.hp1 HG02040.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03239.hp2 HG03486.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18992.hp1 NA19001.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0002t0016 a0001c0002t0046 a0001c0002t0048 a0001c0002t0050 a0001c0006t0007 a0001c0006t0035	a0001c0001t0002g0038 a0001c0001t0002g0129 a0001c0001t0004g0041 others(47): Show a0001c0001t0002g0038 a0001c0001t0002g0129 a0001c0001t0004g0041 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0284 a0001c0001t0010g0255 a0001c0001t0015g0057 a0001c0001t0015g0066 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0172 a0001c0002t0002g0042 a0001c0002t0006g0095 a0001c0002t0014g0306 a0001c0002t0014g0359 a0001c0002t0016g0086 a0001c0002t0046g0087 a0001c0002t0048g0056 a0001c0002t0050g0070 a0001c0006t0007g0326 a0001c0006t0035g0036	56	396	0.1414	-10	c.-10 others(31): Show c.-108-16589_-108-16580delACACACACAC	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF8_chr12_25953682_26077869	26058538	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(70): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02602.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0002t0016 a0001c0002t0046 a0001c0002t0048 a0001c0002t0050 a0001c0002t0060 a0001c0002t0061	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 others(63): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0213 a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0002t0002g0042 a0001c0002t0006g0095 a0001c0002t0006g0269 a0001c0002t0014g0306 a0001c0002t0014g0339 a0001c0002t0014g0359 a0001c0002t0014g0360 a0001c0002t0016g0086 a0001c0002t0046g0087 a0001c0002t0048g0056 a0001c0002t0050g0070 a0001c0002t0060g0018 a0001c0002t0061g0074	73	396	0.1843	-10	c.103 others(27): Show c.103+3107_103+3116delCACACACACA	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF8_chr12_25953682_26077869	26073795	TGTATACA others(3): Show TGTATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	396	0.0025	-10	c.49 others(21): Show c.4978_*4987delGTATACACAC	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding		927		chr12	TogoVar
RASSF9_chr12_85795703_85841409	85806672	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02559.hp1 HG02922.hp1 others(4): Show HG00280.hp1 HG02559.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0008 a0001c0001t0011 a0001c0001t0027 others(2): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0027 a0001c0001t0045 a0006c0008t0023	a0001c0001t0008g0095 a0001c0001t0011g0018 a0001c0001t0011g0103 others(3): Show a0001c0001t0008g0095 a0001c0001t0011g0018 a0001c0001t0011g0103 a0001c0001t0027g0090 a0001c0001t0045g0074 a0006c0008t0023g0159	7	344	0.0204	-10	c.48- others(23): Show c.48-720_48-711delTTTTTTTTTT	RASSF9	ENSG00000198774.5	transcript	ENST00000361228.5	protein_coding	1/1			chr12	TogoVar
RAVER1_chr19_10311212_10338529	10328131	CTGGGACC others(3): Show CTGGGACCCCA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0218 a0001c0001t0014g0218	1	438	0.0023	-10	c.756 others(25): Show c.756+501_756+510delTGGGGTCCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding	3/12			chr19	TogoVar
RAVER2_chr1_64740075_64838232	64755724	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	364	0.0028	-10	c.249 others(29): Show c.249+10323_249+10332delTTTTTTTTTT	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER2_chr1_64740075_64838232	64813828	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(100): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18975.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp1 NA19079.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0011 a0003c0003 others(1): Show a0001c0001 a0001c0011 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0011t0001 a0003c0003t0001 a0004c0006t0009	a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0073 others(99): Show a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0287 a0001c0001t0002g0316 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0159 a0001c0001t0003g0305 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0007g0130 a0001c0001t0007g0208 a0001c0001t0007g0260 a0001c0001t0007g0288 a0001c0001t0007g0289 a0001c0001t0016g0211 a0001c0001t0019g0270 a0001c0001t0022g0058 a0001c0011t0001g0228 a0003c0003t0001g0264 a0003c0003t0001g0265 a0004c0006t0009g0292	103	364	0.2830	-10	c.179 others(27): Show c.1793-839_1793-830delACACACACAC	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAX2_chr19_3764089_3777228	3771166	TCCTTGGC others(3): Show TCCTTGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(277): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0000 a0001 a0003 others(2): Show a0000 a0001 a0003 a0004 a0005	a0000c0002 a0000c0006 a0001c0001 others(4): Show a0000c0002 a0000c0006 a0001c0001 a0001c0007 a0003c0009 a0004c0008 a0005c0005	a0000c0002t0001 a0000c0002t0024 a0000c0006t0001 others(15): Show a0000c0002t0001 a0000c0002t0024 a0000c0006t0001 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0007t0001 a0003c0009t0001 a0004c0008t0001 a0005c0005t0001	a0000c0002t0001g0006 a0000c0002t0024g0038 a0000c0006t0001g0039 others(16): Show a0000c0002t0001g0006 a0000c0002t0024g0038 a0000c0006t0001g0039 a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0006g0007 a0001c0001t0009g0012 a0001c0001t0010g0015 a0001c0001t0013g0025 a0001c0001t0019g0040 a0001c0001t0020g0041 a0001c0001t0021g0042 a0001c0001t0022g0043 a0001c0001t0023g0044 a0001c0001t0025g0045 a0001c0007t0001g0046 a0003c0009t0001g0048 a0004c0008t0001g0047 a0005c0005t0001g0036	280	436	0.6422	-10	c.217 others(25): Show c.217-217_217-208delGAGGCCAAGG	RAX2	ENSG00000173976.16	transcript	ENST00000555633.3	protein_coding	2/2			chr19	TogoVar
RAX2_chr19_3764089_3777228	3772163	CGCCCACG others(3): Show CGCCCACGGCA	C C	splice_region_variant splice_region_variant	LOW	HG02257.hp1 HG02717.hp1 HG02970.hp1 HG02257.hp1 HG02717.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	3	436	0.0069	-10	c.-27 others(19): Show c.-279_-270delTGCCGTGGGC	RAX2	ENSG00000173976.16	transcript	ENST00000555633.3	protein_coding	1/3			chr19	TogoVar
RAX2_chr19_3764089_3777228	3776571	TGGATGGA others(3): Show TGGATGGATGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-10	c.-46 others(21): Show c.-4687_-4678delCCATCCATCC	RAX2	ENSG00000173976.16	transcript	ENST00000555633.3	protein_coding		4344		chr19	TogoVar
RAX_chr18_59262038_59278454	59263033	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01106.hp2 others(66): Show HG00323.hp1 HG00544.hp2 HG01106.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03486.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18976.hp1 NA18986.hp1 NA18994.hp2 NA19010.hp1 NA19054.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0002g0003 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0003g0002 a0001c0001t0003g0039 a0001c0001t0006g0006 a0001c0001t0006g0113 a0001c0001t0007g0008 a0001c0001t0007g0077 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0110 a0001c0001t0010g0011 a0001c0001t0012g0102 a0001c0001t0016g0061 a0001c0001t0021g0029 a0001c0001t0025g0042 a0001c0001t0030g0047 a0001c0001t0034g0079 a0001c0001t0038g0086 a0001c0001t0039g0084	69	484	0.1426	-10	c.59 others(21): Show c.5961_*5970delACACACACAC	RAX	ENSG00000134438.10	transcript	ENST00000334889.4	protein_coding		4004		chr18	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(3): Show GGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18960.hp2 HG02723.hp2 NA18960.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0254 a0002c0001t0002g0268 a0002c0001t0002g0254 a0002c0001t0002g0268	2	306	0.0065	-10	c.-16 others(31): Show c.-166-11712_-166-11703delAAAAAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1CC1_chr8_52617458_52719435	52699826	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	306	0.0033	-10	c.-16 others(31): Show c.-166-12869_-166-12860delATATATTTTT	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1_chr13_48298751_48486890	48300958	ATGTGTGT others(3): Show ATGTGTGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG02055.hp1 others(25): Show HG00323.hp1 HG00323.hp2 HG02055.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18971.hp1 NA18975.hp1 NA18998.hp2 NA19012.hp2 NA19058.hp2 NA19079.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0099 others(25): Show a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0003g0002 a0001c0001t0003g0120 a0001c0001t0006g0290 a0002c0002t0001g0257	28	306	0.0915	-10	c.-29 others(21): Show c.-2954_-2945delTGTGTGTATG	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		2792		chr13	TogoVar
RB1_chr13_48298751_48486890	48316323	CGGACACT others(3): Show CGGACACTTTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02976.hp1 others(8): Show HG01243.hp1 HG02572.hp1 HG02976.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04204.hp2 NA19005.hp2 NA19075.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0001g0184 a0001c0001t0001g0185 others(8): Show a0001c0001t0001g0134 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0203	11	306	0.0360	-10	c.264 others(27): Show c.264+8920_264+8929delACACTTTGGG	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48316719	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01261.hp1 others(20): Show HG00733.hp1 HG01071.hp2 HG01261.hp1 HG02004.hp2 HG02055.hp2 HG02129.hp2 HG02145.hp2 HG02451.hp1 HG02886.hp2 HG03017.hp1 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG04228.hp2 NA18951.hp1 NA18974.hp2 NA18995.hp1 NA19075.hp1 NA19083.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0033 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0002g0186 a0002c0002t0001g0254	23	306	0.0752	-10	c.264 others(27): Show c.264+9369_264+9378delACACACACAC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48346370	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01884.hp2 others(14): Show HG01109.hp2 HG01496.hp2 HG01884.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03139.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0247 a0001c0001t0004g0250	17	306	0.0556	-10	c.500 others(27): Show c.500+1206_500+1215delTGTGTGTGTG	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48438936	TTCTCTTA others(3): Show TTCTCTTAGCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG01884.hp2 others(16): Show HG01243.hp2 HG01496.hp2 HG01884.hp2 HG02145.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 others(16): Show a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0007t0001g0211	19	306	0.0621	-10	c.169 others(31): Show c.1696-14051_1696-14042delTAGCATCTCT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48459967	CTCTCTTT others(3): Show CTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	306	0.0033	-10	c.210 others(27): Show c.2106+138_2106+147delCTTTCTTTCT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBAK_chr7_5040860_5074487	5047601	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01884.hp1 others(12): Show HG01109.hp2 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 NA19240.hp2	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0005 a0007c0013 a0008c0017 a0002c0005 a0007c0013 a0008c0017	a0002c0005t0010 a0002c0005t0015 a0002c0005t0021 others(3): Show a0002c0005t0010 a0002c0005t0015 a0002c0005t0021 a0002c0005t0068 a0007c0013t0023 a0008c0017t0032	a0002c0005t0010g0032 a0002c0005t0010g0034 a0002c0005t0010g0065 others(9): Show a0002c0005t0010g0032 a0002c0005t0010g0034 a0002c0005t0010g0065 a0002c0005t0010g0066 a0002c0005t0015g0031 a0002c0005t0015g0061 a0002c0005t0015g0062 a0002c0005t0021g0033 a0002c0005t0068g0034 a0007c0013t0023g0063 a0007c0013t0023g0064 a0008c0017t0032g0060	15	438	0.0343	-10	c.-44 others(25): Show c.-44-415_-44-406delTTTTTTTTTT	RBAK	ENSG00000146587.18	transcript	ENST00000396912.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBAK_chr7_5040860_5074487	5063477	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00733.hp2 others(24): Show HG00423.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02135.hp2 HG02896.hp2 HG02922.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA18950.hp2 NA18969.hp2 NA18988.hp1 NA19056.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0025 a0001c0020t0001 a0001c0001t0001 a0001c0001t0025 a0001c0020t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0025g0020 a0001c0001t0025g0085 a0001c0020t0001g0020	27	438	0.0616	-10	c.239 others(25): Show c.239-190_239-181delGTGTGTGTGT	RBAK	ENSG00000146587.18	transcript	ENST00000396912.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBAK_chr7_5040860_5074487	5072036	GGCGTGGT others(3): Show GGCGTGGTCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03139.hp1 HG06807.hp1 HG02818.hp1 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0033 a0001c0002t0022 a0001c0002t0033	a0001c0002t0022g0165 a0001c0002t0022g0166 a0001c0002t0033g0072 a0001c0002t0022g0165 a0001c0002t0022g0166 a0001c0002t0033g0072	3	438	0.0069	-10	c.64 others(21): Show c.6436_*6445delGCGTGGTCAT	RBAK	ENSG00000146587.18	transcript	ENST00000396912.2	protein_coding		2550		chr7	TogoVar
RBBP4_chr1_32646208_32691211	32647041	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01943.hp1 HG01975.hp1 HG00323.hp2 HG01943.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0096 a0001c0001t0001g0208 a0001c0001t0001g0209	3	312	0.0096	-10	c.-42 others(21): Show c.-4265_-4256delAAAAAAAAAA	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		4166		chr1	TogoVar
RBBP4_chr1_32646208_32691211	32661870	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	312	0.0032	-10	c.310 others(27): Show c.310+4325_310+4334delTTTTTTTTTT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBBP4_chr1_32646208_32691211	32678567	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(98): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19068.hp1 NA19068.hp2 NA19083.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0018 others(94): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0257 a0001c0001t0002g0014 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0197 a0001c0001t0002g0222 a0001c0001t0003g0011 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0081 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0132 a0001c0001t0003g0180 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0097 a0001c0001t0006g0105 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0158 a0001c0001t0006g0195 a0001c0001t0009g0004 a0001c0001t0009g0190 a0001c0001t0009g0207 a0001c0001t0009g0219 a0001c0001t0012g0267 a0001c0001t0020g0074 a0001c0001t0035g0004 a0001c0001t0036g0107 a0001c0001t0039g0142 a0001c0001t0040g0015 a0001c0001t0041g0220 a0001c0001t0042g0064 a0001c0001t0043g0134 a0001c0001t0044g0236 a0001c0001t0048g0086 a0001c0001t0050g0141 a0001c0001t0052g0080	101	312	0.3237	-10	c.121 others(29): Show c.1213-1042_1213-1033delTTTTTTTTTT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBBP4_chr1_32646208_32691211	32689235	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18982.hp1 NA19057.hp1 others(1): Show HG00423.hp1 NA18982.hp1 NA19057.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0114 a0001c0001t0002g0125 a0001c0001t0004g0001 others(1): Show a0001c0001t0001g0114 a0001c0001t0002g0125 a0001c0001t0004g0001 a0001c0001t0004g0246	4	312	0.0128	-10	c.95 others(21): Show c.9531_*9540delTTTTTTTTTT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		3025		chr1	TogoVar
RBBP5_chr1_205081142_205126978	205093473	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp1 HG02055.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	2	390	0.0051	-10	c.158 others(29): Show c.1588+1390_1588+1399delATATTTTTTT	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13			chr1	TogoVar
RBBP5_chr1_205081142_205126978	205093475	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03225.hp2 NA18952.hp2 HG02027.hp1 HG03225.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0126 a0001c0001t0005g0019 a0001c0001t0005g0126	3	390	0.0077	-10	c.158 others(29): Show c.1588+1388_1588+1397delATATATTTTT	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13			chr1	TogoVar
RBBP5_chr1_205081142_205126978	205093479	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01433.hp1 others(16): Show HG00741.hp1 HG00741.hp2 HG01433.hp1 HG02055.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG03471.hp1 HG03471.hp2 NA18948.hp2 NA18979.hp1 NA18991.hp2 NA19002.hp2 NA19007.hp1 NA19066.hp2 NA19074.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0048	a0001c0001t0002g0289 a0001c0001t0002g0303 a0001c0001t0003g0037 others(15): Show a0001c0001t0002g0289 a0001c0001t0002g0303 a0001c0001t0003g0037 a0001c0001t0003g0052 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0004g0086 a0001c0001t0004g0099 a0001c0001t0007g0137 a0001c0001t0007g0145 a0001c0001t0007g0148 a0001c0001t0007g0157 a0001c0001t0008g0340 a0001c0001t0015g0298 a0001c0001t0019g0013 a0001c0001t0019g0080 a0001c0001t0048g0079	19	390	0.0487	-10	c.158 others(29): Show c.1588+1384_1588+1393delATATATATAT	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13			chr1	TogoVar
RBBP5_chr1_205081142_205126978	205125840	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp2 others(48): Show HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02300.hp1 HG02647.hp2 HG03017.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18942.hp1 NA18951.hp2 NA18967.hp1 NA18983.hp2 NA18991.hp1 NA18998.hp2 NA19011.hp2 NA19062.hp2 NA19080.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0043 a0001c0001t0047 a0001c0001t0054	a0001c0001t0002g0265 a0001c0001t0002g0290 a0001c0001t0003g0005 others(42): Show a0001c0001t0002g0265 a0001c0001t0002g0290 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0004g0016 a0001c0001t0004g0088 a0001c0001t0018g0053 a0001c0001t0018g0058 a0001c0001t0018g0063 a0001c0001t0023g0281 a0001c0001t0031g0043 a0001c0001t0033g0232 a0001c0001t0033g0234 a0001c0001t0043g0050 a0001c0001t0047g0055 a0001c0001t0054g0266	51	390	0.1308	-10	c.-39 others(21): Show c.-3977_-3968delCACACACACA	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding		3863		chr1	TogoVar
RBBP6_chr16_24534566_24577863	24575925	AGAGGGAG others(3): Show AGAGGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	336	0.0030	-10	c.34 others(21): Show c.3481_*3490delGAGGGAGGAG	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		3063		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24575948	AGAGGGAG others(3): Show AGAGGGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00642.hp2 others(28): Show HG00140.hp2 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG02083.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG04204.hp2 HG04228.hp2 NA18952.hp1 NA18961.hp2 NA18982.hp1 NA19068.hp2 NA19084.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0009 others(2): Show a0001c0002 a0001c0006 a0001c0009 a0001c0013 a0001c0019	a0001c0002t0004 a0001c0006t0004 a0001c0009t0004 others(2): Show a0001c0002t0004 a0001c0006t0004 a0001c0009t0004 a0001c0013t0009 a0001c0019t0004	a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 others(22): Show a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0028 a0001c0002t0004g0061 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0082 a0001c0002t0004g0083 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0004g0094 a0001c0002t0004g0097 a0001c0006t0004g0010 a0001c0006t0004g0018 a0001c0009t0004g0028 a0001c0013t0009g0049 a0001c0019t0004g0010	31	336	0.0923	-10	c.35 others(21): Show c.3504_*3513delGAGGGAGAGG	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		3086		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24575952	GGAGAGGG others(3): Show GGAGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG03490.hp2 others(1): Show HG00280.hp2 HG01243.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0058 others(1): Show a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0060	4	336	0.0119	-10	c.35 others(21): Show c.3508_*3517delGAGAGGGAGA	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		3090		chr16	TogoVar
RBBP7_chrX_16839341_16875362	16851133	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0205 a0001c0001t0012g0205	1	316	0.0032	-10	c.104 others(27): Show c.1040+903_1040+912delCTTTTCTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	9/11			chrX	TogoVar
RBBP7_chrX_16839341_16875362	16864538	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02647.hp1 HG01070.hp2 HG01071.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0152 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0152	3	316	0.0095	-10	c.162 others(27): Show c.162-1448_162-1439delCTTTTTTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	2/11			chrX	TogoVar
RBBP7_chrX_16839341_16875362	16865063	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	316	0.0032	-10	c.162 others(27): Show c.162-1973_162-1964delTTTTTTTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	2/11			chrX	TogoVar
RBBP7_chrX_16839341_16875362	16866523	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03831.hp2 HG03486.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0166 a0001c0001t0001g0031 a0001c0001t0001g0166	2	316	0.0063	-10	c.161 others(27): Show c.161+2543_161+2552delTTTTTTTTTT	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding	2/11			chrX	TogoVar
RBBP8NL_chr20_62405237_62432539	62420350	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp2 HG02559.hp2 others(5): Show HG00741.hp1 HG02486.hp2 HG02559.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp1 NA19066.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0024	a0001c0001 a0001c0026 a0002c0002 others(3): Show a0001c0001 a0001c0026 a0002c0002 a0005c0005 a0007c0007 a0024c0019	a0001c0001t0007 a0001c0026t0003 a0002c0002t0001 others(4): Show a0001c0001t0007 a0001c0026t0003 a0002c0002t0001 a0002c0002t0005 a0005c0005t0002 a0007c0007t0002 a0024c0019t0007	a0001c0001t0007g0059 a0001c0026t0003g0236 a0002c0002t0001g0280 others(4): Show a0001c0001t0007g0059 a0001c0026t0003g0236 a0002c0002t0001g0280 a0002c0002t0005g0113 a0005c0005t0002g0143 a0007c0007t0002g0114 a0024c0019t0007g0292	8	432	0.0185	-10	c.-83 others(25): Show c.-83-630_-83-621delTGTGTGTGTG	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62421395	CAGTGTGC others(3): Show CAGTGTGCGTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	2	432	0.0046	-10	c.-83 others(27): Show c.-83-1675_-83-1666delCACGCACACT	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBBP8_chr18_22928328_23031486	22964630	TTTTTATT others(3): Show TTTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	330	0.0030	-10	c.249 others(27): Show c.249-4156_249-4147delATTTTATTTT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP8_chr18_22928328_23031486	22977196	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01081.hp1 others(43): Show HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG06807.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0003c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0002t0001g0182 others(41): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0317 a0001c0002t0006g0172 a0001c0002t0008g0308 a0003c0006t0001g0304 a0003c0006t0001g0305	46	330	0.1394	-10	c.428 others(27): Show c.428+1993_428+2002delGTTTTGTTTT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP8_chr18_22928328_23031486	22980965	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02257.hp1 HG02572.hp2 others(7): Show HG01074.hp2 HG02257.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 others(7): Show a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0317	10	330	0.0303	-10	c.429 others(27): Show c.429-1237_429-1228delTTTTTTTTTT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP9_chr20_18481540_18502225	18486117	TATATATA others(3): Show TATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	454	0.0022	-10	c.36 others(21): Show c.3637_*3646delTTATATATAT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		422		chr20	TogoVar
RBBP9_chr20_18481540_18502225	18486147	TGTAAATA others(3): Show TGTAAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	454	0.0022	-10	c.36 others(21): Show c.3607_*3616delTTATATTTAC	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		392		chr20	TogoVar
RBBP9_chr20_18481540_18502225	18486163	TATATATG others(3): Show TATATATGTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0131 a0001c0001t0016g0131	1	454	0.0022	-10	c.35 others(21): Show c.3591_*3600delTTACATATAT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		376		chr20	TogoVar
RBBP9_chr20_18481540_18502225	18486169	TGTAAATA others(3): Show TGTAAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	454	0.0022	-10	c.35 others(21): Show c.3585_*3594delTTATATTTAC	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		370		chr20	TogoVar

Search by Variant

Search

Search Results