Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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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
RAB31_chr18_9703301_9867551	9815950	TAGATGCT others(63): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	322	0.0031	-70	c.380 others(85): Show c.380+798_380+867delGAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTG	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB40C_chr16_585066_634268	611799	AAGGGACA others(63): Show AAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01081.hp2 others(5): Show HG00408.hp2 HG00639.hp1 HG01081.hp2 HG02273.hp2 NA18963.hp2 NA19087.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0255 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0281 a0001c0001t0002g0288 a0001c0001t0002g0326 a0001c0001t0016g0321	8	350	0.0229	-70	c.143 others(87): Show c.143-5408_143-5339delAGGGACAGCCGCCTTCGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB40C_chr16_585066_634268	612006	CAAGGGAC others(63): Show CAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCCGCCC TGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02683.hp2 HG03654.hp1 others(9): Show HG01943.hp1 HG02683.hp2 HG03654.hp1 HG04199.hp2 NA18940.hp2 NA18950.hp1 NA18964.hp1 NA18966.hp2 NA18986.hp2 NA18997.hp2 NA19056.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0182 a0001c0001t0002g0183 others(9): Show a0001c0001t0002g0016 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0265 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0293 a0001c0001t0002g0306 a0001c0001t0002g0315	12	350	0.0343	-70	c.143 others(87): Show c.143-5200_143-5131delAGGGACAGCCGCCTTTGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGCATCAAGAGCAA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612417	AAGGGACA others(63): Show AAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02273.hp2 HG03688.hp2 others(2): Show HG00639.hp1 HG02273.hp2 HG03688.hp2 NA18963.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0015 a0001c0001t0002g0284 a0001c0001t0002g0295 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0284 a0001c0001t0002g0295 a0001c0001t0002g0326 a0001c0001t0016g0321	5	350	0.0143	-70	c.143 others(87): Show c.143-4790_143-4721delAGGGACAGCCGCCTTCGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB40C_chr16_585066_634268	612624	CAAGGGAC others(63): Show CAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCTGCCC TGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00673.hp2 others(66): Show HG00280.hp1 HG00438.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02258.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18940.hp2 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19077.hp1 NA19079.hp1 NA19087.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 others(63): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0180 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0325 a0001c0001t0008g0039 a0001c0001t0009g0317 a0001c0001t0011g0291 a0001c0001t0011g0302 a0001c0001t0013g0024 a0001c0001t0013g0036	69	350	0.1971	-70	c.143 others(87): Show c.143-4582_143-4513delAGGGACAGCCGCCTTTGCCTGTAGAATC AAGAGCAGGGACAGCTGCCCTGGCCTGTAGCATCAAGAGCAA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB7B_chr1_205971740_206008395	205981693	ACTGAACA others(63): Show ACTGAACACCTACTGTGATTTCCTTCACAATGTTAACTGAACACCTACTC TGGTTTCTTTCAGAATGTTAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	330	0.0030	-70	c.523 others(87): Show c.523-2835_523-2766delCTAACATTCTGAAAGAAACCAGAGTAGG TGTTCAGTTAACATTGTGAAGGAAATCACAGTAGGTGTTCAG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	5/5			chr1	TogoVar
RAD52_chr12_906736_954694	932820	CGTACTAG others(63): Show CGTACTAGGTAAACGTACTAGGTACTGCTCACACACGTACTAGGTAAACG TACTAGGTACTGCTCACACAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02572.hp2 others(2): Show HG02257.hp2 HG02559.hp2 HG02572.hp2 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0034 a0001c0001t0004 a0001c0001t0017 a0001c0001t0034	a0001c0001t0004g0020 a0001c0001t0017g0221 a0001c0001t0017g0222 others(1): Show a0001c0001t0004g0020 a0001c0001t0017g0221 a0001c0001t0017g0222 a0001c0001t0034g0224	5	400	0.0125	-70	c.84+ others(82): Show c.84+85_84+154delATGTGTGAGCAGTACCTAGTACGTTTACCTAGT ACGTGTGTGAGCAGTACCTAGTACGTTTACCTAGTAC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	2/11			chr12	TogoVar
RAN_chr12_130867066_130882678	130881331	TGTGTGTC others(63): Show TGTGTGTCTGTGTGTCTCTGTGTGTGTGTGTCTGTGCGTGTCAGTGTGTG TGTGTGTTTGTTGATTTTCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	426	0.0024	-70	c.54 others(81): Show c.5406_*5475delGTGTGTCTGTGTGTCTCTGTGTGTGTGTGTCTGT GCGTGTCAGTGTGTGTGTGTGTTTGTTGATTTTCGC	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		3654		chr12	TogoVar
RBFOX1_chr16_6014024_7718340	7504717	ATATATAT others(63): Show ATATATATATATATATATATATATATATATATATATATTTATATATATAT ATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG00741.hp2 others(14): Show HG00280.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG02451.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 NA18994.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0029 a0002c0003t0034 a0003c0005t0003	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0067 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0003g0010 a0001c0001t0004g0057 a0001c0001t0005g0066 a0001c0001t0007g0039 a0001c0001t0012g0054 a0001c0001t0015g0045 a0001c0001t0024g0008 a0001c0001t0029g0001 a0002c0003t0034g0061 a0003c0005t0003g0043	17	68	0.2500	-70	c.28- others(87): Show c.28-13414_28-13345delATATATATATATATATATATATTTATAT ATATATATATTTATATATATATATATTTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504733	ATATATAT others(63): Show ATATATATATATATATATATATTTATATATATATATATTTATATATATAT ATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0031 a0001c0002t0028g0031	1	68	0.0147	-70	c.28- others(87): Show c.28-13397_28-13328delTATATTTATATATATATATATTTATATA TATATATATTTATATATATATATATTTATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504717	ATATATAT others(63): Show ATATATATATATATATATATATATATATATATATATATTTATATATATAT ATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(57): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01515.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18946.hp1 NA18994.hp2 NA19043.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0032 a0003c0021 a0004c0035	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0027 a0001c0001t0032 a0001c0001t0049 a0001c0002t0002 a0001c0002t0008 a0001c0002t0019 a0001c0002t0036 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0007 a0001c0006t0002 a0001c0007t0001 a0001c0007t0024 a0001c0009t0001 a0001c0011t0013 a0001c0011t0044 a0001c0032t0008 a0003c0021t0014 a0004c0035t0002	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0042 others(57): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0004g0008 a0001c0001t0006g0131 a0001c0001t0010g0141 a0001c0001t0016g0174 a0001c0001t0016g0209 a0001c0001t0027g0221 a0001c0001t0032g0183 a0001c0001t0049g0113 a0001c0002t0002g0004 a0001c0002t0002g0041 a0001c0002t0002g0054 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0175 a0001c0002t0008g0025 a0001c0002t0008g0049 a0001c0002t0019g0126 a0001c0002t0036g0091 a0001c0003t0002g0149 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0140 a0001c0003t0005g0057 a0001c0004t0007g0205 a0001c0006t0002g0012 a0001c0006t0002g0015 a0001c0007t0001g0150 a0001c0007t0001g0208 a0001c0007t0024g0084 a0001c0009t0001g0132 a0001c0011t0013g0069 a0001c0011t0013g0085 a0001c0011t0044g0104 a0001c0032t0008g0076 a0003c0021t0014g0202 a0004c0035t0002g0090	60	234	0.2564	-70	c.88- others(87): Show c.88-13414_88-13345delATATATATATATATATATATATTTATAT ATATATATATTTATATATATATATATTTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504733	ATATATAT others(63): Show ATATATATATATATATATATATTTATATATATATATATTTATATATATAT ATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02976.hp1 HG01515.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0018 a0001c0001t0001 a0001c0017t0018	a0001c0001t0001g0188 a0001c0017t0018g0227 a0001c0001t0001g0188 a0001c0017t0018g0227	2	234	0.0086	-70	c.88- others(87): Show c.88-13397_88-13328delTATATTTATATATATATATATTTATATA TATATATATTTATATATATATATATTTATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM11_chr21_14211157_14233372	14232590	TAAGAAAA others(63): Show TAAGAAAAGTCAACTAATAGCCTGGGCTTGATTTGGGGGAAAATGAGCAC TAATATATAAATCTCTGGAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	458	0.0022	-70	c.52 others(81): Show c.5298_*5367delAAGAAAAGTCAACTAATAGCCTGGGCTTGATTTG GGGGAAAATGAGCACTAATATATAAATCTCTGGAAA	RBM11	ENSG00000185272.14	transcript	ENST00000400577.4	protein_coding		4219		chr21	TogoVar
RBM19_chr12_113817057_113971325	113938394	TGGGGACA others(63): Show TGGGGACATGAATATCTATCTCTAAGAATTGCTGGGGGGCATATGAATAC CTATCTCTAAGAATTGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(64): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp2 NA18952.hp2 NA18959.hp2 NA18969.hp1 NA18970.hp2 NA18979.hp2 NA18984.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0010 a0017	a0003c0002 a0003c0015 a0004c0007 others(6): Show a0003c0002 a0003c0015 a0004c0007 a0004c0008 a0004c0033 a0007c0013 a0010c0032 a0010c0035 a0017c0023	a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 others(10): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 a0003c0002t0006 a0003c0015t0004 a0004c0007t0001 a0004c0007t0006 a0004c0008t0007 a0004c0033t0001 a0007c0013t0001 a0010c0032t0006 a0010c0035t0001 a0017c0023t0001	a0003c0002t0001g0001 a0003c0002t0001g0041 a0003c0002t0001g0051 others(63): Show a0003c0002t0001g0001 a0003c0002t0001g0041 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0067 a0003c0002t0001g0069 a0003c0002t0001g0070 a0003c0002t0001g0071 a0003c0002t0001g0072 a0003c0002t0001g0074 a0003c0002t0002g0046 a0003c0002t0002g0048 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0005g0042 a0003c0002t0005g0043 a0003c0002t0005g0045 a0003c0002t0005g0047 a0003c0002t0005g0050 a0003c0002t0005g0068 a0003c0002t0005g0073 a0003c0002t0005g0075 a0003c0002t0005g0076 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0134 a0003c0002t0006g0049 a0003c0015t0004g0044 a0003c0015t0004g0054 a0003c0015t0004g0055 a0004c0007t0001g0136 a0004c0007t0001g0228 a0004c0007t0001g0229 a0004c0007t0001g0232 a0004c0007t0001g0233 a0004c0007t0001g0234 a0004c0007t0001g0244 a0004c0007t0001g0245 a0004c0007t0001g0301 a0004c0007t0006g0226 a0004c0008t0007g0227 a0004c0008t0007g0236 a0004c0008t0007g0237 a0004c0008t0007g0239 a0004c0008t0007g0240 a0004c0008t0007g0241 a0004c0008t0007g0242 a0004c0008t0007g0243 a0004c0008t0007g0246 a0004c0033t0001g0235 a0007c0013t0001g0060 a0007c0013t0001g0210 a0007c0013t0001g0211 a0007c0013t0001g0212 a0010c0032t0006g0231 a0010c0035t0001g0238 a0017c0023t0001g0248	67	356	0.1882	-70	c.193 others(89): Show c.1939-1328_1939-1259delCCCAGCAATTCTTAGAGATAGGTATT CATATGCCCCCCAGCAATTCTTAGAGATAGATATTCATGTCCCC	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	15/23			chr12	TogoVar
RERE_chr1_8347404_8822640	8668954	GTGTGTGT others(63): Show GTGTGTGTGTTGTGTTTTTAAGACAGGGTCTCACTCTGTCTTCTGTGAAT ATTCTAAAATGCACTCAACTC	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0042 a0001c0003t0004g0042	1	204	0.0049	-70	c.-14 others(91): Show c.-144-12583_-144-12514delGAGTTGAGTGCATTTTAGAATATT CACAGAAGACAGAGTGAGACCCTGTCTTAAAAACACAACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
REV3L_chr6_111294033_111488218	111422577	CACATATA others(63): Show CACATATATATATATATACACATATATATATATATACACATATATATATA TATACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	288	0.0035	-70	c.140 others(87): Show c.140-6175_140-6106delATATATATATATATGTGTATATATATAT ATATGTGTATATATATATATATGTGTATATATATATATATGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111422593	TACACATA others(63): Show TACACATATATATATATATACACATATATATATATATACACATATATATA TATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18957.hp1 HG02523.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0212 a0002c0002t0001g0156 a0002c0002t0001g0212	2	288	0.0069	-70	c.140 others(87): Show c.140-6191_140-6122delGTATATATATATATGTATATATATATAT ATGTGTATATATATATATATGTGTATATATATATATATGTGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFC4_chr3_186784900_186811482	186790846	TAAAGAGG others(63): Show TAAAGAGGATTAGTGGTACCAGTCTTGTCATATGGAAGGCCTACCGTGAA GGTGAAAAACGTCATAGAAAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	432	0.0023	-70	c.802 others(85): Show c.802-510_802-441delGTTTCTATGACGTTTTTCACCTTCACGGTA GGCCTTCCATATGACAAGACTGGTACCACTAATCCTCTTT	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding	8/10			chr3	TogoVar
RGS12_chr4_3288021_3444913	3391703	TCAGAGAG others(63): Show TCAGAGAGGGCTGCCTGGCGTGTTTGGGGGCCTCGTCAGAGAGGGCTGCC TGGGGTGTTTGGGGGCCTCAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp2 HG02258.hp1 others(10): Show HG01975.hp1 HG02055.hp2 HG02258.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03195.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0004 a0001c0009 a0001c0014 others(3): Show a0001c0004 a0001c0009 a0001c0014 a0003c0016 a0005c0051 a0010c0032	a0001c0004t0001 a0001c0009t0001 a0001c0014t0001 others(3): Show a0001c0004t0001 a0001c0009t0001 a0001c0014t0001 a0003c0016t0001 a0005c0051t0001 a0010c0032t0001	a0001c0004t0001g0268 a0001c0009t0001g0197 a0001c0014t0001g0129 others(10): Show a0001c0004t0001g0268 a0001c0009t0001g0197 a0001c0014t0001g0129 a0001c0014t0001g0130 a0001c0014t0001g0134 a0003c0016t0001g0204 a0003c0016t0001g0205 a0003c0016t0001g0207 a0003c0016t0001g0208 a0003c0016t0001g0209 a0003c0016t0001g0210 a0005c0051t0001g0153 a0010c0032t0001g0196	13	312	0.0417	-70	c.202 others(89): Show c.2020+5284_2020+5353delCGTGTTTGGGGGCCTCGTCAGAGAGG GCTGCCTGGGGTGTTTGGGGGCCTCACCAGAGAGGGCTGCCTGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3413006	GCGTCAGG others(63): Show GCGTCAGGAGGGACGGGGGCGCCCCCACACTGCTCGCGTCAGGAGGGACG GGGGCGCCCCCACACTGCTCA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	312	0.0032	-70	c.202 others(87): Show c.2021-996_2021-927delACGTCAGGAGGGACGGGGGCGCCCCCAC ACTGCTCGCGTCAGGAGGGACGGGGGCGCCCCCACACTGCTC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNASET2_chr6_166917113_166961550	166944980	CCTGTCAG others(63): Show CCTGTCAGCCCTGCCCTCACCCACCCACGTCCACACCTGTCAGCCCTGCC CTCACCCACCCACGTCCACAT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19011.hp1 NA19056.hp1 NA18979.hp2 NA19011.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0271 a0001c0001t0019g0292 a0001c0001t0019g0293 a0001c0001t0019g0271 a0001c0001t0019g0292 a0001c0001t0019g0293	3	346	0.0087	-70	c.261 others(87): Show c.261+1632_261+1701delATGTGGACGTGGGTGGGTGAGGGCAGGG CTGACAGGTGTGGACGTGGGTGGGTGAGGGCAGGGCTGACAG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	4/8			chr6	TogoVar
RNF212B_chr14_23232936_23278477	23277606	CATGGTGG others(63): Show CATGGTGGTTCGTGCCTGTCGTCCCAACTACTTGGGAGGCTGAGGCAGGA GGACTGCTTGAGCCTGAGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	368	0.0027	-70	c.47 others(81): Show c.4716_*4785delATGGTGGTTCGTGCCTGTCGTCCCAACTACTTGG GAGGCTGAGGCAGGAGGACTGCTTGAGCCTGAGAGG	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		4130		chr14	TogoVar
RNF8_chr6_37348983_37399734	37352105	CAGGCGTG others(63): Show CAGGCGTGAGCCGCCACACTTGGCTGTGTGTGTGTTTTTTGTTTTTGTTT TTGTTTTTTTTGTTGTTGTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0024 a0001c0002t0004g0024	1	324	0.0031	-70	c.-20 others(81): Show c.-2059_-1990delAGGCGTGAGCCGCCACACTTGGCTGTGTGTGTGT TTTTTGTTTTTGTTTTTGTTTTTTTTGTTGTTGTTG	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding		1877		chr6	TogoVar
RNGTT_chr6_88604897_88968618	88698099	TACATATA others(63): Show TACATATATATGATATATATATGAAATACATATATATGATATATATATGA AATACATATGATATATATGAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03831.hp1 HG03486.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0004g0160 a0001c0001t0001g0029 a0001c0001t0004g0160	2	220	0.0091	-70	c.144 others(91): Show c.1440-19750_1440-19681delGTCATATATATCATATGTATTTCA TATATATATCATATATATGTATTTCATATATATATCATATATATGT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RORA_chr15_60483284_61234302	60597563	TATATATA others(63): Show TATATATATATACACATATATATATATATATACACATATATATATATATA TATATACATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0090 a0001c0001t0012g0090	1	118	0.0085	-70	c.197 others(89): Show c.197-65782_197-65713delGTATATATATGTATGTATATATATAT ATATATATATGTGTATATATATATATATATGTGTATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPA3_chr7_7631518_7723607	7637658	TAGTTATA others(63): Show TAGTTATATAAAACTGTATGTTATGTAATTACATACAGTTATATAAAACT GTATGTTATGTAATTACATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02886.hp1 HG03098.hp2 HG00639.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0021 a0001c0001t0014 a0001c0001t0021	a0001c0001t0014g0123 a0001c0001t0014g0211 a0001c0001t0021g0251 a0001c0001t0014g0123 a0001c0001t0014g0211 a0001c0001t0021g0251	3	308	0.0097	-70	c.283 others(85): Show c.283+136_283+205delGTATGTAATTACATAACATACAGTTTTATA TAACTGTATGTAATTACATAACATACAGTTTTATATAACT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	7/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	243544	CCTTCCTC others(63): Show CCTTCCTCTACTGATTGCCCCTCCTCTACTGATTACCCTTCCTCTATTGA TTACCCTTCCTCTATTGATTA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0037 a0008c0013t0003g0037	1	133	0.0075	-70	c.613 others(87): Show c.613+3497_613+3566delTAATCAATAGAGGAAGGGTAATCAATAG AGGAAGGGTAATCAGTAGAGGAGGGGCAATCAGTAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80629029	CTCTTCTG others(63): Show CTCTTCTGGGACTCAGCTCTCTATGTATTGTGCTGTTGGACATTGTACCG CAGCTCTTTTGTGTGTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(60): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(49): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0039 a0001c0046 a0001c0047 a0001c0048 a0001c0050 a0001c0053 a0001c0058 a0001c0060 a0001c0065 a0001c0066 a0001c0067 a0001c0072 a0001c0074 a0001c0075 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097	a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 others(55): Show a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0005t0026 a0001c0005t0067 a0001c0006t0076 a0001c0007t0069 a0001c0008t0054 a0001c0009t0001 a0001c0009t0012 a0001c0009t0028 a0001c0011t0024 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0015t0008 a0001c0016t0029 a0001c0018t0017 a0001c0019t0003 a0001c0022t0001 a0001c0023t0008 a0001c0024t0003 a0001c0028t0006 a0001c0029t0025 a0001c0031t0027 a0001c0034t0004 a0001c0036t0004 a0001c0037t0004 a0001c0037t0053 a0001c0039t0061 a0001c0046t0024 a0001c0047t0012 a0001c0048t0073 a0001c0050t0007 a0001c0053t0007 a0001c0058t0004 a0001c0060t0001 a0001c0065t0007 a0001c0066t0058 a0001c0067t0068 a0001c0072t0006 a0001c0074t0032 a0001c0075t0012 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0086t0004 a0001c0087t0002 a0001c0088t0007 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001	a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 others(60): Show a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 a0001c0004t0001g0152 a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0006t0076g0192 a0001c0007t0069g0128 a0001c0008t0054g0169 a0001c0009t0001g0125 a0001c0009t0012g0103 a0001c0009t0028g0113 a0001c0011t0024g0147 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0062 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0016t0029g0193 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0028t0006g0124 a0001c0029t0025g0153 a0001c0031t0027g0173 a0001c0034t0004g0133 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 a0001c0037t0053g0138 a0001c0039t0061g0177 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0050t0007g0148 a0001c0053t0007g0122 a0001c0058t0004g0156 a0001c0060t0001g0130 a0001c0065t0007g0101 a0001c0066t0058g0126 a0001c0067t0068g0110 a0001c0072t0006g0108 a0001c0074t0032g0061 a0001c0075t0012g0127 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0086t0004g0172 a0001c0087t0002g0051 a0001c0088t0007g0141 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157	63	196	0.3214	-70	c.265 others(87): Show c.265+3294_265+3363delTTGTGTGTCTCTATCTTCTGGGACTCAG CTCTCTATGTATTGTGCTGTTGGACATTGTACCGCAGCTCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80915109	TGGGAAAA others(63): Show TGGGAAAACCAGCTGCAGAGAGGAGCTGCACACTCCAGGGTCTCCTCTCT GCTGAGAACTGAGCAGACGTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0004 a0001c0037t0004	a0001c0037t0004g0145 a0001c0037t0004g0145	1	196	0.0051	-70	c.252 others(89): Show c.2520+6228_2520+6297delCTGCTGAGAACTGAGCAGACGTCGGG AAAACCAGCTGCAGAGAGGAGCTGCACACTCCAGGGTCTCCTCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80915318	AGGAAAAC others(63): Show AGGAAAACCAGCTGCAGAGAGGAGTTAACCACTCCAGGGTCTCCTCTCTG CTGAGAGCTGAGCAGACGTCG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	196	0.0051	-70	c.252 others(89): Show c.2520+6544_2520+6613delAGAGAGGAGTTAACCACTCCAGGGTC TCCTCTCTGCTGAGAGCTGAGCAGACGTCGGGAAAACCAGCTGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80915613	GGAGAGGA others(63): Show GGAGAGGAGCTACCCACTCCTGGGTCTCCTCTCTGCTGAGAGCTGAGCAG ACATCGGGAAAACCAGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0018 a0001c0012t0018	a0001c0012t0018g0194 a0001c0012t0018g0194	1	196	0.0051	-70	c.252 others(89): Show c.2520+6704_2520+6773delTGGGTCTCCTCTCTGCTGAGAGCTGA GCAGACATCGGGAAAACCAGCTGCAGAGAGGAGCTACCCACTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTL8B_chrX_135015513_135027542	135027472	TTAAAACC others(63): Show TTAAAACCACAGTGAGTAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(66): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18966.hp1 NA18980.hp2 NA18995.hp1 NA19001.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19075.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0003 a0001c0004t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(9): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0002t0003g0000 a0001c0004t0003g0000	69	295	0.2339	-70	c.-50 others(81): Show c.-5083_-5014delCTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTACTCACTGTGGTTTTA	RTL8B	ENSG00000212747.5	transcript	ENST00000391440.3	protein_coding		4931		chrX	TogoVar
SCLY_chr2_238056001_238104413	238098568	TGCCCACA others(63): Show TGCCCACATGGGACCGCCCACATAGGACCGCCCACATAGGACCGCCCACA TGGGACCGCCCACATGGGACC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0123 a0002c0002t0123	a0002c0002t0123g0031 a0002c0002t0123g0031	1	392	0.0026	-70	c.23 others(79): Show c.238_*307delGACCGCCCACATAGGACCGCCCACATGGGACCGCCC ACATGGGACCGCCCACATGGGACCGCCCACATAG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	238	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289509	CCCCGTGT others(63): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	290	0.0035	-70	c.166 others(87): Show c.1663-752_1663-683delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289948	CCGTGTCT others(63): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02683.hp1 NA18971.hp1 HG00438.hp2 HG02683.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0002	a0002c0002t0001g0003 a0002c0002t0001g0053 a0002c0003t0002g0082 a0002c0002t0001g0003 a0002c0002t0001g0053 a0002c0003t0002g0082	3	290	0.0103	-70	c.166 others(87): Show c.1663-321_1663-252delGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289975	TGCTCCGT others(63): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp2 NA19067.hp2 others(1): Show NA18964.hp2 NA18998.hp2 NA19067.hp2 NA19080.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0030 a0003c0004t0003g0133 a0003c0004t0003g0135 others(1): Show a0002c0002t0001g0030 a0003c0004t0003g0133 a0003c0004t0003g0135 a0003c0004t0003g0153	4	290	0.0138	-70	c.166 others(87): Show c.1663-295_1663-226delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289984	CCGTGTCC others(63): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	290	0.0035	-70	c.166 others(87): Show c.1663-285_1663-216delGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290002	CCGTGTCC others(63): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0247 a0004c0008t0001g0247	1	290	0.0035	-70	c.166 others(87): Show c.1663-267_1663-198delGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281206	TCCTGTCA others(63): Show TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG06807.hp2 HG03239.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0045 a0002c0002 a0001c0045 a0002c0002	a0001c0045t0003 a0002c0002t0010 a0001c0045t0003 a0002c0002t0010	a0001c0045t0003g0060 a0002c0002t0010g0114 a0001c0045t0003g0060 a0002c0002t0010g0114	2	280	0.0071	-70	c.484 others(87): Show c.484+9770_484+9839delGTAGCTGAGGAGGAGATGACAGAAGGGT GGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281326	CTCCTGTC others(63): Show CTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTT CTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02723.hp2 others(1): Show HG02486.hp2 HG02572.hp2 HG02723.hp2 HG02886.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0024 a0002c0014 a0002c0025 others(1): Show a0001c0024 a0002c0014 a0002c0025 a0009c0056	a0001c0024t0094 a0002c0014t0026 a0002c0025t0073 others(1): Show a0001c0024t0094 a0002c0014t0026 a0002c0025t0073 a0009c0056t0084	a0001c0024t0094g0271 a0002c0014t0026g0235 a0002c0025t0073g0258 others(1): Show a0001c0024t0094g0271 a0002c0014t0026g0235 a0002c0025t0073g0258 a0009c0056t0084g0262	4	280	0.0143	-70	c.484 others(87): Show c.484+9650_484+9719delTAGCTGAGGAGGAGATGACAGAAGGGTG GCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCX_chr8_144261453_144273481	144272544	GCCTCCGC others(63): Show GCCTCCGCTCAAGAGCCCTGTAGAGCACCCCCCGCTGCCCACCCGGGTTC CAGCTGCCAAGGACACTGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-70	c.44 others(81): Show c.4403_*4472delCCTCCGCTCAAGAGCCCTGTAGAGCACCCCCCGC TGCCCACCCGGGTTCCAGCTGCCAAGGACACTGGCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		4064		chr8	TogoVar
SEC22B_chr1_120145898_120181520	120170932	CAAATTTC others(63): Show CAAATTTCTTTAATTTAATAAAATTAATTTATTAAATTTAATTTAATTTA AAATTCTTTAATAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00741.hp1 others(117): Show HG00408.hp1 HG00673.hp2 HG00741.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(31): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0028 a0001c0002t0030 a0001c0002t0033 a0001c0002t0034 a0001c0002t0040 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0067 a0001c0002t0068 a0001c0002t0071 a0001c0002t0072	a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0003g0035 others(72): Show a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0075 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0100 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0004g0005 a0001c0002t0004g0017 a0001c0002t0004g0032 a0001c0002t0004g0078 a0001c0002t0004g0085 a0001c0002t0004g0087 a0001c0002t0004g0090 a0001c0002t0005g0007 a0001c0002t0005g0013 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0127 a0001c0002t0008g0003 a0001c0002t0008g0118 a0001c0002t0012g0011 a0001c0002t0013g0020 a0001c0002t0013g0050 a0001c0002t0013g0052 a0001c0002t0020g0076 a0001c0002t0020g0104 a0001c0002t0020g0106 a0001c0002t0021g0079 a0001c0002t0021g0086 a0001c0002t0021g0091 a0001c0002t0022g0033 a0001c0002t0022g0128 a0001c0002t0024g0077 a0001c0002t0024g0082 a0001c0002t0024g0089 a0001c0002t0025g0053 a0001c0002t0025g0083 a0001c0002t0025g0114 a0001c0002t0026g0048 a0001c0002t0026g0049 a0001c0002t0028g0038 a0001c0002t0030g0031 a0001c0002t0033g0084 a0001c0002t0033g0092 a0001c0002t0034g0094 a0001c0002t0034g0099 a0001c0002t0040g0051 a0001c0002t0042g0105 a0001c0002t0043g0080 a0001c0002t0044g0107 a0001c0002t0047g0073 a0001c0002t0048g0108 a0001c0002t0049g0126 a0001c0002t0050g0081 a0001c0002t0051g0119 a0001c0002t0052g0103 a0001c0002t0053g0088 a0001c0002t0054g0117 a0001c0002t0055g0098 a0001c0002t0056g0120 a0001c0002t0067g0097 a0001c0002t0068g0074 a0001c0002t0071g0093 a0001c0002t0072g0110	120	380	0.3158	-70	c.76- others(85): Show c.76-2053_76-1984delCTTTTTTTTATTAAAGAATTTTAAATTAAA TTAAATTTAATAAATTAATTTTATTAAATTAAAGAAATTT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	1/4			chr1	TogoVar
SELENOO_chr22_50196011_50222616	50205064	GTGGGTCC others(63): Show GTGGGTCCCAGGGGCTGGAGGGAGTAGAGGAATCGGGAGCCAGTGTTCGA TGGGGACAAAGTTTCAGTTTC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	438	0.0023	-70	c.555 others(87): Show c.555-1182_555-1113delTGGGTCCCAGGGGCTGGAGGGAGTAGAG GAATCGGGAGCCAGTGTTCGATGGGGACAAAGTTTCAGTTTC	SELENOO	ENSG00000073169.15	transcript	ENST00000380903.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SELENOT_chr3_150598321_150635436	150632894	TGATTGCT others(63): Show TGATTGCTTGGTTAAGAAACAAAAATATTAAGGCCTCGGGAGGTTGCTAC CAACACTCCCTTGGGCCACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0116 a0001c0001t0018g0116	1	380	0.0026	-70	c.52 others(81): Show c.5266_*5335delGATTGCTTGGTTAAGAAACAAAAATATTAAGGCC TCGGGAGGTTGCTACCAACACTCCCTTGGGCCACTG	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		2459		chr3	TogoVar
SETDB2_chr13_49439274_49500003	49498386	AATCATTC others(63): Show AATCATTCTGACAGTAACCTAGTACATTTCCGGTAGATCATTCTGACAGT AACCTAGTACATTTCCAGTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01257.hp2 others(41): Show HG01109.hp1 HG01109.hp2 HG01257.hp2 HG02015.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18947.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp2 NA19001.hp2 NA19030.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0003c0004 a0007c0009	a0001c0001t0005 a0001c0002t0012 a0001c0008t0005 others(6): Show a0001c0001t0005 a0001c0002t0012 a0001c0008t0005 a0003c0004t0005 a0003c0004t0018 a0003c0004t0021 a0003c0004t0030 a0003c0004t0031 a0007c0009t0021	a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0002t0012g0016 others(38): Show a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0002t0012g0016 a0001c0002t0012g0280 a0001c0002t0012g0281 a0001c0002t0012g0282 a0001c0008t0005g0008 a0003c0004t0005g0010 a0003c0004t0005g0199 a0003c0004t0005g0200 a0003c0004t0005g0201 a0003c0004t0005g0202 a0003c0004t0005g0203 a0003c0004t0005g0204 a0003c0004t0005g0205 a0003c0004t0005g0206 a0003c0004t0005g0207 a0003c0004t0005g0208 a0003c0004t0005g0209 a0003c0004t0005g0210 a0003c0004t0005g0211 a0003c0004t0005g0212 a0003c0004t0005g0213 a0003c0004t0005g0214 a0003c0004t0005g0215 a0003c0004t0005g0216 a0003c0004t0005g0217 a0003c0004t0005g0218 a0003c0004t0005g0219 a0003c0004t0005g0222 a0003c0004t0005g0223 a0003c0004t0005g0224 a0003c0004t0005g0231 a0003c0004t0005g0378 a0003c0004t0018g0195 a0003c0004t0018g0196 a0003c0004t0018g0197 a0003c0004t0021g0193 a0003c0004t0030g0198 a0003c0004t0031g0221 a0007c0009t0021g0194	44	406	0.1084	-70	c.65 others(81): Show c.6538_*6607delATCATTCTGACAGTAACCTAGTACATTTCCGGTA GATCATTCTGACAGTAACCTAGTACATTTCCAGTAG	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3384		chr13	TogoVar
SFSWAP_chr12_131706090_131804738	131792028	GTGTGTGT others(63): Show GTGTGTGTTCACGGATCAGTACTGTGTGTGTGCACGTGTGTGTTCACGGA TCATTACTGTGTGTGCGCCCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0026 a0002c0003t0003g0026	1	318	0.0031	-70	c.253 others(89): Show c.2535-5098_2535-5029delATTACTGTGTGTGCGCCCATGTGTGT TCACGGATCAGTACTGTGTGTGTGCACGTGTGTGTTCACGGATC	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGCZ_chr8_14079845_15243431	14551473	TTATATAT others(63): Show TTATATATTATATATATTATATATATTATATATATTATATATATTATATA TAATATATATAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp1 HG02109.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0027 a0002c0002t0004g0039 a0002c0002t0004g0027 a0002c0002t0004g0039	2	102	0.0196	-70	c.234 others(87): Show c.234+3189_234+3258delTTATATATATTATATATATTATATATAA TATATATAATATATATAATATATATAATATATATAATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SHC2_chr19_411589_466033	426433	GGGCAGAG others(63): Show GGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGAGGCAGAGTCCGGGG AGGGAGGACGACAGCACGAGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18971.hp1 NA18947.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0004g0174 a0001c0002t0004g0175	2	212	0.0094	-70	c.117 others(89): Show c.1175-1272_1175-1203delTCTCGTGCTGTCGTCCTCCCTCCCCG GACTCTGCCTCTCTCGGTGTCGTCCTCCCTCCCCGGACTCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	426538	AGGCAGAG others(63): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGG AGGGAGGACGACACCGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG02055.hp1 others(22): Show HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0005 a0001c0013 others(4): Show a0001c0001 a0001c0005 a0001c0013 a0001c0017 a0001c0018 a0003c0008 a0008c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0005t0006 a0001c0005t0015 a0001c0013t0005 a0001c0017t0005 a0001c0018t0006 a0003c0008t0003 a0003c0008t0006 a0008c0021t0002	a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0002g0101 others(21): Show a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0003g0004 a0001c0001t0003g0050 a0001c0001t0003g0171 a0001c0001t0003g0180 a0001c0001t0004g0033 a0001c0001t0005g0168 a0001c0001t0006g0034 a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0054 a0001c0001t0007g0041 a0001c0001t0016g0070 a0001c0005t0006g0009 a0001c0005t0015g0008 a0001c0013t0005g0007 a0001c0017t0005g0056 a0001c0018t0006g0179 a0003c0008t0003g0183 a0003c0008t0006g0185 a0008c0021t0002g0032	25	212	0.1179	-70	c.117 others(89): Show c.1175-1377_1175-1308delCCTCTCGGTGTCGTCCTCCCTCCCCG GACTCTGCCCCTCTCGGTGTCGTCCTCCCTCCCCGGACTCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHTN1_chr10_116876477_117010187	116946609	ATATATAA others(63): Show ATATATAAATATATAAAATGATTTATATATAAATATATAAAATGATTTAT ATATAAATATATAAAATGATT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	292	0.0034	-70	c.617 others(87): Show c.617-1661_617-1592delAATCATTTTATATATTTATATATAAATC ATTTTATATATTTATATATAAATCATTTTATATATTTATATA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	7/16			chr10	TogoVar

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