Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARSF_chrX_3036471_3117727	3112535	GGGTCCTA others(43): Show GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTT T	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG01884.hp1 HG02451.hp2	a0006 a0006	a0006c0014 a0006c0018 a0006c0014 a0006c0018	a0006c0014t0002 a0006c0018t0002 a0006c0014t0002 a0006c0018t0002	a0006c0014t0002g0025 a0006c0018t0002g0131 a0006c0014t0002g0025 a0006c0018t0002g0131	2	189	0.0106	-50	c.18 others(57): Show c.18_*67delGAGGAAGCCTTTGGTCCTAACGAGAAGAGATAATTACA ATCAGGCTACCA		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11				18	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARVCF_chr22_19964896_20021823	19994550	AGATGAAT others(43): Show AGATGAATGGATGGATGGGTGGGTGGGGGGATGGTGGAGGATGAACATAT G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 NA18951.hp1 others(1): Show HG00558.hp2 HG00597.hp2 NA18951.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0035 a0001c0001 a0001c0035	a0001c0001t0001 a0001c0035t0001 a0001c0001t0001 a0001c0035t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0035t0001g0230	4	371	0.0108	-50	c.-18 others(67): Show c.-18-3788_-18-3739delCATATGTTCATCCTCCACCATCCCCCCA CCCACCCATCCATCCATTCATC		ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	2/19						chr22	TogoVar
ASB16_chr17_44165704_44184084	44180602	TGGGGGGT others(43): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	360	0.0028	-50	c.22 others(61): Show c.2213_*2262delGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCC ATCCGGGAGGGAGGTG		ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding					1519		chr17	TogoVar
ASB18_chr2_236188459_236269406	236237334	CGCGGGGG others(43): Show CGCGGGGGCCGGGGCCGGGGCGCGGGGCGGGGGCCGGGGCCGGGGCGCGG G	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02683.hp1 HG03209.hp2 others(10): Show HG00639.hp2 HG02683.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03704.hp1 NA18946.hp1 NA18979.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0012	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0005c0010 a0008c0013 a0012c0020	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0005c0010t0001 a0008c0013t0011 a0012c0020t0009	a0001c0001t0001g0005 a0001c0001t0001g0223 a0001c0003t0001g0112 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0223 a0001c0003t0001g0112 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0145 a0005c0010t0001g0141 a0008c0013t0011g0007 a0008c0013t0011g0217 a0012c0020t0009g0015	13	158	0.0823	-50	c.596 others(65): Show c.596+305_596+354delCCCGCGCCCCGGCCCCGGCCCCCGCCCCGC GCCCCGGCCCCGGCCCCCGC		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5						chr2	TogoVar
ASB18_chr2_236188459_236269406	236237388	GGGGCCGG others(43): Show GGGGCCGGGGCCGGGGCGCGGGGCGGGGGCCGGGGCCGGGGCGCGGGGCG A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG01981.hp2 others(23): Show HG00639.hp1 HG01496.hp2 HG01981.hp2 HG01993.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022 a0002c0005 a0003c0004 a0009c0026	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(7): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0008t0003 a0001c0022t0022 a0002c0005t0001 a0003c0004t0004 a0003c0004t0012 a0009c0026t0003	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(22): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0228 a0001c0003t0005g0215 a0001c0003t0006g0218 a0001c0008t0003g0003 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0008t0003g0229 a0001c0022t0022g0034 a0002c0005t0001g0238 a0002c0005t0001g0239 a0003c0004t0004g0016 a0003c0004t0004g0234 a0003c0004t0012g0225 a0009c0026t0003g0242	26	248	0.1048	-50	c.596 others(65): Show c.596+251_596+300delTCGCCCCGCGCCCCGGCCCCGGCCCCCGCC CCGCGCCCCGGCCCCGGCCC		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5						chr2	TogoVar
ASCC3_chr6_100503194_100886329	100608681	ATATATTT others(43): Show ATATATTTTATATATATATACTTTATATATATATTTTATATATATATACT T	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	293	0.0034	-50	c.478 others(69): Show c.4786-1643_4786-1594delAAGTATATATATATAAAATATATATA TAAAGTATATATATATAAAATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASRGL1_chr11_62332448_62398412	62355003	CGCCTCCC others(43): Show CGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG G	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	368	0.0027	-50	c.191 others(67): Show c.191-1321_191-1272delGCCTCCCGGGTTCAAGTGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGG		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	2/6						chr11	TogoVar
ATL2_chr2_38288954_38382273	38325661	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACCAGTACACACACACA C	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	134	0.0075	-50	c.364 others(67): Show c.364-6692_364-6643delGTGTGTGTGTGTACTGGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATP2C2_chr16_84363538_84469187	84395526	TTGGCTCA others(43): Show TTGGCTCATTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCCTGACT C	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	430	0.0023	-50	c.100 others(67): Show c.100-2922_100-2873delTGGCTCATTGCAACCTCCGCCTTCCAGG TTCAAGCAATTCTCCCTGACTC		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145205	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp1 others(15): Show HG00544.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp2 HG02145.hp1 HG02155.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0006c0007t0004	a0001c0001t0001g0016 a0001c0001t0001g0294 a0001c0001t0001g0296 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0002g0261 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0338 a0001c0001t0003g0207 a0001c0001t0004g0124 a0001c0001t0004g0125 a0006c0007t0004g0018	18	357	0.0504	-50	c.639 others(67): Show c.639+2283_639+2332delGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70937030	TGCTCACT others(43): Show TGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAAAGCCAGA G	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19005.hp2 NA19010.hp1 NA18941.hp1 NA19005.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0002c0021 a0001c0005 a0001c0007 a0002c0021	a0001c0005t0001 a0001c0007t0001 a0002c0021t0001 a0001c0005t0001 a0001c0007t0001 a0002c0021t0001	a0001c0005t0001g0108 a0001c0007t0001g0182 a0002c0021t0001g0362 a0001c0005t0001g0108 a0001c0007t0001g0182 a0002c0021t0001g0362	3	427	0.0070	-50	c.118 others(67): Show c.118+1000_118+1049delAAGCCAGAGGCTCACTGGAGTAAACCAG CATGGCCCGCCACAGCTATGCA		ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70937072	AAGCCAGA others(43): Show AAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA G	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(305): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(30): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0017 a0001c0034 a0001c0035 a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0030 a0002c0032 a0003c0004 a0003c0009 a0003c0015 a0003c0016 a0003c0022 a0003c0023 a0003c0036 a0004c0033	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(36): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0007t0011 a0001c0017t0004 a0001c0017t0009 a0001c0034t0001 a0001c0035t0004 a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0014t0002 a0002c0018t0002 a0002c0019t0008 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0030t0001 a0002c0032t0001 a0003c0004t0001 a0003c0009t0001 a0003c0015t0001 a0003c0016t0001 a0003c0022t0004 a0003c0023t0001 a0003c0036t0008 a0004c0033t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0022 others(267): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0010g0042 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0058 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0005t0001g0053 a0001c0005t0001g0059 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0118 a0001c0005t0001g0136 a0001c0005t0001g0178 a0001c0007t0001g0009 a0001c0007t0001g0057 a0001c0007t0001g0061 a0001c0007t0001g0062 a0001c0007t0001g0122 a0001c0007t0001g0125 a0001c0007t0001g0129 a0001c0007t0001g0141 a0001c0007t0001g0145 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0001g0153 a0001c0007t0001g0156 a0001c0007t0001g0157 a0001c0007t0001g0159 a0001c0007t0001g0160 a0001c0007t0001g0161 a0001c0007t0001g0162 a0001c0007t0001g0163 a0001c0007t0001g0165 a0001c0007t0001g0166 a0001c0007t0001g0171 a0001c0007t0001g0179 a0001c0007t0011g0147 a0001c0017t0004g0063 a0001c0017t0004g0133 a0001c0017t0009g0117 a0001c0034t0001g0114 a0001c0035t0004g0155 a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0314 a0002c0003t0001g0365 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0006t0001g0245 a0002c0006t0001g0246 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0266 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0272 a0002c0006t0001g0278 a0002c0006t0001g0296 a0002c0006t0001g0299 a0002c0006t0001g0304 a0002c0006t0001g0312 a0002c0006t0001g0322 a0002c0006t0001g0354 a0002c0006t0003g0033 a0002c0006t0003g0300 a0002c0006t0003g0307 a0002c0008t0002g0004 a0002c0008t0002g0007 a0002c0008t0002g0313 a0002c0008t0002g0328 a0002c0008t0002g0330 a0002c0008t0002g0331 a0002c0008t0002g0332 a0002c0008t0002g0333 a0002c0008t0002g0334 a0002c0008t0002g0336 a0002c0008t0002g0340 a0002c0008t0002g0341 a0002c0008t0002g0342 a0002c0008t0002g0343 a0002c0008t0002g0357 a0002c0008t0002g0358 a0002c0010t0002g0035 a0002c0010t0002g0036 a0002c0010t0002g0270 a0002c0010t0002g0286 a0002c0010t0002g0287 a0002c0010t0002g0308 a0002c0010t0002g0315 a0002c0010t0002g0316 a0002c0010t0002g0317 a0002c0010t0002g0323 a0002c0010t0002g0324 a0002c0010t0002g0325 a0002c0010t0002g0326 a0002c0010t0002g0329 a0002c0010t0002g0360 a0002c0011t0002g0319 a0002c0011t0002g0320 a0002c0011t0002g0348 a0002c0011t0002g0353 a0002c0012t0005g0034 a0002c0012t0005g0318 a0002c0012t0005g0321 a0002c0012t0005g0327 a0002c0012t0012g0288 a0002c0013t0002g0038 a0002c0013t0002g0344 a0002c0013t0002g0346 a0002c0013t0002g0347 a0002c0014t0002g0037 a0002c0014t0002g0338 a0002c0014t0002g0339 a0002c0018t0002g0310 a0002c0018t0002g0359 a0002c0019t0008g0264 a0002c0019t0008g0273 a0002c0021t0001g0309 a0002c0024t0002g0345 a0002c0025t0001g0297 a0002c0026t0001g0276 a0002c0027t0001g0294 a0002c0028t0001g0311 a0002c0030t0001g0335 a0002c0032t0001g0337 a0003c0004t0001g0012 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0110 a0003c0004t0001g0191 a0003c0004t0001g0192 a0003c0004t0001g0193 a0003c0004t0001g0194 a0003c0004t0001g0202 a0003c0004t0001g0207 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0211 a0003c0004t0001g0213 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0220 a0003c0004t0001g0222 a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0231 a0003c0004t0001g0240 a0003c0004t0001g0241 a0003c0004t0001g0242 a0003c0004t0001g0244 a0003c0009t0001g0011 a0003c0009t0001g0041 a0003c0009t0001g0195 a0003c0009t0001g0196 a0003c0009t0001g0198 a0003c0009t0001g0199 a0003c0009t0001g0200 a0003c0009t0001g0204 a0003c0009t0001g0205 a0003c0009t0001g0206 a0003c0009t0001g0210 a0003c0009t0001g0214 a0003c0009t0001g0215 a0003c0009t0001g0216 a0003c0009t0001g0219 a0003c0009t0001g0225 a0003c0009t0001g0227 a0003c0009t0001g0228 a0003c0009t0001g0230 a0003c0009t0001g0232 a0003c0015t0001g0030 a0003c0015t0001g0223 a0003c0015t0001g0237 a0003c0016t0001g0229 a0003c0016t0001g0235 a0003c0016t0001g0236 a0003c0022t0004g0212 a0003c0023t0001g0234 a0003c0023t0001g0238 a0003c0036t0008g0221 a0004c0033t0001g0139	308	437	0.7048	-50	c.118 others(67): Show c.118+1063_118+1112delACTGGAGTAAACCAGCATGGCCCGCCAC AGCTATGCAGAGCCAGAGGCTC		ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546469	TATATGTG others(43): Show TATATGTGTATATATATATATATATATATATATATATATATATGTATATA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02965.hp1 HG03453.hp2 others(15): Show HG02027.hp2 HG02965.hp1 HG03453.hp2 NA18612.hp1 NA18941.hp2 NA18957.hp2 NA18959.hp2 NA18967.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18997.hp1 NA19010.hp1 NA19066.hp1 NA19077.hp1 NA19082.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0215 a0001c0001t0001g0266 a0001c0001t0001g0273 others(12): Show a0001c0001t0001g0215 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0263 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0127 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0172 a0001c0002t0003g0281	18	408	0.0441	-50	c.-46 others(61): Show c.-4676_-4627delGTATATACATATATATATATATATATATATATAT ATATATATACACATAT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3893		chr2	TogoVar
ATP7A_chrX_77905693_78055395	77931742	CGGACGGG others(43): Show CGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCC T	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	231	0.0043	-50	c.-22 others(69): Show c.-22+20928_-22+20977delTGGGGGGCTGACCCCCCCCACCTCCC TCCTGGACGGGGCGGCTGGCCGGG		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8B1_chr18_57641426_57808315	57732131	ATATGTAT others(43): Show ATATGTATATATGTGTATATATGTATATATATGTATATATGTATATATGT G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02809.hp2 others(3): Show HG01891.hp1 HG02572.hp1 HG02809.hp2 HG03098.hp2 HG06807.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0004 a0001c0001 a0001c0013 a0004c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0001t0050 a0001c0013t0035 a0004c0004t0046	a0001c0001t0002g0203 a0001c0001t0004g0019 a0001c0001t0021g0001 others(3): Show a0001c0001t0002g0203 a0001c0001t0004g0019 a0001c0001t0021g0001 a0001c0001t0050g0305 a0001c0013t0035g0008 a0004c0004t0046g0291	6	204	0.0294	-50	c.-25 others(65): Show c.-25-349_-25-300delCACATATATACATATATACATATATATACA TATATACACATATATACATA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATXN2L_chr16_28817999_28842232	28836555	TCTGGCTT others(43): Show TCTGGCTTACTGGGAAACAGCGATTGACCTGTGCTTCTGACAGCCCCCGA G	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0007 a0007c0017t0007	a0007c0017t0007g0091 a0007c0017t0007g0091	1	380	0.0026	-50	c.29 others(59): Show c.291_*340delCTGGCTTACTGGGAAACAGCGATTGACCTGTGCTTC TGACAGCCCCCGAG		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22				291		chr16	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	6	0.1667	-50	c.310 others(69): Show c.310-22790_310-22741delATATATATATATATATATATATATAT ATATATATATATATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579448	ATATTATA others(43): Show ATATTATATATTATATATAATATATTATATTATATATAATATATTACATA T	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA20905.hp1 HG03688.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0304 a0001c0001t0011g0305 a0001c0001t0007g0304 a0001c0001t0011g0305	2	168	0.0119	-50	c.168 others(67): Show c.1689-767_1689-718delTATATATTATATATAATATATTATATTA TATATAATATATTACATATTAT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(43): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03041.hp2 HG03471.hp2 others(7): Show HG02074.hp1 HG03041.hp2 HG03471.hp2 HG04228.hp2 NA19006.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0004t0001g0105 others(6): Show a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0004t0001g0105 a0002c0002t0002g0019 a0002c0002t0002g0034 a0002c0002t0002g0059 a0002c0002t0002g0082 a0003c0003t0001g0004 a0003c0003t0001g0131	10	180	0.0556	-50	c.287 others(65): Show c.287+689_287+738delACACACACACACACACACACACACACACAC ACACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AZU1_chr19_822837_837018	830862	TGACTGTG others(43): Show TGACTGTGACCCCCGAGGACCAGTGTCGCCCCAACAACGTGTGCACCGGT G	T T	frameshift_variant frameshift_variant	HIGH	HG02027.hp1 HG02027.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0002 a0007c0017t0001g0002	1	390	0.0026	-50	c.516 others(57): Show c.516_565delGACTGTGACCCCCGAGGACCAGTGTCGCCCCAACAACG TGTGCACCGGTG	p.Thr others(5): Show p.Thr173fs	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	4/5	526/907	516/756	172/251			chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83003499	CACTCTCT others(43): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTC T	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03579.hp1 others(1): Show HG01891.hp2 HG02451.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0011 a0001c0011t0012 a0001c0014t0018 a0001c0011t0011 a0001c0011t0012 a0001c0014t0018	a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 others(1): Show a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0014t0018g0050	4	237	0.0169	-50	c.459 others(67): Show c.459+1566_459+1615delAGAGAGTGGGAGGGCGGGCTCAGGAATC CCACACGCGGACTGCAGAGAGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003786	CACTCTCT others(43): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCACCCTCCCACTCTC T	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03453.hp1 HG03486.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0137 a0004c0017t0002g0138 a0004c0017t0002g0137 a0004c0017t0002g0138	2	261	0.0077	-50	c.459 others(67): Show c.459+1279_459+1328delAGAGAGTGGGAGGGTGGGCTCAGGAATC CCACACGCGGACTGCAGAGAGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83034471	TTGATAAG others(43): Show TTGATAAGGTTGGGCTGTGTCCCCACCCAAATCTCATCTTGAATTAATAA C	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01069.hp2 others(6): Show HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02148.hp1 HG02293.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172	9	266	0.0338	-50	c.297 others(65): Show c.297+514_297+563delGTTATTAATTCAAGATGAGATTTGGGTGGG GACACAGCCCAACCTTATCA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
BABAM1_chr19_17262443_17284337	17277228	GTCTCCCT others(43): Show GTCTCCCTCTGTCTCCCAGGCTGGAGTGTAGTGGCATGATCTCGGCTCAC T	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	422	0.0024	-50	c.786 others(65): Show c.786+320_786+369delTCTCCCTCTGTCTCCCAGGCTGGAGTGTAG TGGCATGATCTCGGCTCACT		BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	8/8						chr19	TogoVar
BANP_chr16_87946434_88082316	87998562	ACGCACGT others(43): Show ACGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGC C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(157): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(12): Show a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0022 a0001c0031 a0002c0003 a0002c0015 a0002c0018 a0002c0021 a0002c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(23): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0005t0003 a0001c0005t0005 a0001c0006t0002 a0001c0008t0001 a0001c0008t0004 a0001c0011t0001 a0001c0011t0003 a0001c0011t0005 a0001c0012t0001 a0001c0016t0003 a0001c0016t0005 a0001c0017t0001 a0001c0022t0003 a0001c0031t0001 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0015t0002 a0002c0015t0003 a0002c0018t0010 a0002c0021t0003 a0002c0025t0003	a0001c0002t0001g0053 a0001c0002t0002g0003 a0001c0002t0002g0004 others(150): Show a0001c0002t0001g0053 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0015 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0008g0009 a0001c0002t0008g0014 a0001c0002t0008g0016 a0001c0002t0008g0030 a0001c0002t0008g0031 a0001c0002t0008g0034 a0001c0002t0008g0041 a0001c0002t0008g0049 a0001c0002t0008g0057 a0001c0002t0011g0037 a0001c0002t0011g0058 a0001c0002t0011g0062 a0001c0005t0003g0002 a0001c0005t0003g0008 a0001c0005t0003g0224 a0001c0005t0003g0282 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0295 a0001c0005t0003g0296 a0001c0005t0003g0299 a0001c0005t0003g0300 a0001c0005t0003g0302 a0001c0005t0003g0303 a0001c0005t0003g0304 a0001c0005t0003g0305 a0001c0005t0005g0067 a0001c0005t0005g0068 a0001c0006t0002g0001 a0001c0006t0002g0011 a0001c0006t0002g0071 a0001c0006t0002g0073 a0001c0006t0002g0074 a0001c0006t0002g0075 a0001c0006t0002g0077 a0001c0006t0002g0079 a0001c0006t0002g0080 a0001c0006t0002g0081 a0001c0006t0002g0085 a0001c0006t0002g0127 a0001c0006t0002g0276 a0001c0006t0002g0277 a0001c0006t0002g0330 a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0008t0001g0340 a0001c0008t0004g0145 a0001c0011t0001g0046 a0001c0011t0003g0029 a0001c0011t0005g0120 a0001c0011t0005g0121 a0001c0011t0005g0338 a0001c0011t0005g0339 a0001c0012t0001g0017 a0001c0016t0003g0072 a0001c0016t0005g0337 a0001c0017t0001g0028 a0001c0017t0001g0241 a0001c0022t0003g0301 a0001c0031t0001g0162 a0002c0003t0003g0013 a0002c0003t0003g0056 a0002c0003t0003g0059 a0002c0003t0003g0060 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0279 a0002c0003t0003g0280 a0002c0003t0003g0283 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0306 a0002c0003t0003g0307 a0002c0003t0003g0308 a0002c0003t0003g0309 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0315 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0324 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0329 a0002c0003t0003g0331 a0002c0003t0003g0336 a0002c0003t0009g0033 a0002c0003t0009g0286 a0002c0003t0009g0287 a0002c0003t0009g0312 a0002c0003t0009g0313 a0002c0003t0009g0316 a0002c0003t0010g0270 a0002c0003t0010g0281 a0002c0003t0010g0325 a0002c0003t0010g0326 a0002c0015t0002g0069 a0002c0015t0003g0314 a0002c0018t0010g0114 a0002c0021t0003g0333 a0002c0025t0003g0032	160	350	0.4571	-50	c.363 others(67): Show c.363-5716_363-5667delGACTCACCTGTCCTTCCAGACACGTCTC CATGCCCGCACGTGCGCGGCTG		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87999824	GCGGCTGT others(43): Show GCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGC A	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18612.hp2 NA19054.hp1 HG02015.hp1 NA18612.hp2 NA19054.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0292 a0001c0005t0003g0299 a0001c0005t0003g0302 a0001c0005t0003g0292 a0001c0005t0003g0299 a0001c0005t0003g0302	3	350	0.0086	-50	c.363 others(67): Show c.363-4441_363-4392delGTCTCCATGCACGCACGTGCACGGCTGT ACTTACCTGTCCTTCCAGACAC		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCAP29_chr7_107575246_107625478	107613649	TACAGCAT others(43): Show TACAGCATTCCAGTTTTGGTGAATTTTTAAGCAAAAGAAGCCACAAAAAT G	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp1 HG02965.hp1 others(2): Show HG01891.hp2 HG02897.hp1 HG02965.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0325	5	396	0.0126	-50	c.690 others(65): Show c.690+218_690+267delACAGCATTCCAGTTTTGGTGAATTTTTAAG CAAAAGAAGCCACAAAAATG		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	7/7						chr7	TogoVar
BCKDK_chr16_31103386_31117791	31104757	GGGGGGTC others(43): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	165	0.0061	-50	c.-38 others(61): Show c.-3899_-3850delGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGT		BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding					3628		chr16	TogoVar
BCL2_chr18_63118346_63324769	63145351	AGGGGGCT others(43): Show AGGGGGCTTCCCTGGCCACTCGCCCCACTGCCCAAGAGATCCAGGGGGTG G	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01123.hp1 others(31): Show HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18985.hp1 NA19030.hp2 NA19058.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0048 a0001c0001t0053 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0015 a0001c0002t0039 a0001c0002t0041 a0001c0004t0002 a0001c0004t0038	a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0156 others(31): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0003g0215 a0001c0001t0007g0121 a0001c0001t0007g0166 a0001c0001t0007g0218 a0001c0001t0007g0231 a0001c0001t0010g0235 a0001c0001t0019g0153 a0001c0001t0019g0237 a0001c0001t0022g0180 a0001c0001t0022g0181 a0001c0001t0048g0140 a0001c0001t0053g0251 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0003g0249 a0001c0002t0010g0250 a0001c0002t0015g0062 a0001c0002t0015g0063 a0001c0002t0039g0091 a0001c0002t0041g0246 a0001c0004t0002g0044 a0001c0004t0038g0040	34	262	0.1298	-50	c.586 others(69): Show c.586-16642_586-16593delCCACCCCCTGGATCTCTTGGGCAGTG GGGCGAGTGGCCAGGGAAGCCCCC		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(43): Show GTATGTATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG01884.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0037 a0001c0006t0027 a0001c0001t0037 a0001c0006t0027	a0001c0001t0037g0186 a0001c0006t0027g0176 a0001c0001t0037g0186 a0001c0006t0027g0176	2	170	0.0118	-50	c.241 others(67): Show c.241-2297_241-2248delTATATATATATATATATATATATATATA TATATATATATATATATACATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	30	0.0333	-50	c.490 others(65): Show c.490-726_490-677delTATATATATATATATATATATATATATATA TATATATATATATATATATA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(43): Show GTGTGTATGTATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02886.hp1 others(1): Show HG02451.hp1 HG02486.hp2 HG02886.hp1 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0002 a0002c0002t0018 a0003c0007t0032 a0001c0001t0002 a0002c0002t0018 a0003c0007t0032	a0001c0001t0002g0001 a0001c0001t0002g0008 a0002c0002t0018g0131 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0002c0002t0018g0131 a0003c0007t0032g0036	4	22	0.1818	-50	c.307 others(69): Show c.307+30230_307+30279delGTGTATGTATATATATATATATATAT ATATATATATATATATATATATAT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32346566	ATATATAT others(43): Show ATATATATATATATATACGTGTATATATATATATATATATATATATACGT G	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	285	0.0035	-50	c.276 others(69): Show c.2764+7604_2764+7653delCGTGTATATATATATATATATATATA TATACGTGTATATATATATATATA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BMP2K_chr4_78771350_78921365	78829767	TTTCTTTT others(43): Show TTTCTTTTCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCT C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0044 a0001c0017t0011g0044	1	200	0.0050	-50	c.297 others(67): Show c.297+3617_297+3666delTTTCTTTTCTTTTCTTTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCT		BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMT2_chr7_112814147_112944875	112922847	GCCCGGCC others(43): Show GCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCC C	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp1 HG03516.hp2 HG02723.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017	3	204	0.0147	-50	c.161 others(67): Show c.161-7450_161-7401delGGGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGG		BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	1/4						chr7	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02717.hp2 HG03209.hp2 HG01175.hp2 HG02717.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0228 a0002c0002t0001g0036 a0001c0001t0001g0228 a0002c0002t0001g0036	3	44	0.0682	-50	c.116 others(67): Show c.1169-435_1169-386delTATATATATATATATATATATATATATA TATATATATATATATATATATA		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11						chr6	TogoVar
BRF1_chr14_105204286_105306001	105214451	GTGGCTCA others(43): Show GTGGCTCAGCTGCCCACACCCCTGCGTGGCTCAGCTGCCCACACCCCTGC A	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	70	0.0143	-50	c.177 others(69): Show c.1773-2337_1773-2288delTGCAGGGGTGTGGGCAGCTGAGCCAC GCAGGGGTGTGGGCAGCTGAGCCA		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	15/17						chr14	TogoVar
BRWD1_chr21_39180482_39318632	39217043	ATATATAT others(43): Show ATATATATTTATATATATATATATATATATATATATATATATTTTTTTTT T	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0012 a0006c0009t0012	a0006c0009t0012g0084 a0006c0009t0012g0084	1	311	0.0032	-50	c.365 others(69): Show c.3659+1059_3659+1108delAAAAAAAAAATATATATATATATATA TATATATATATATATAAATATATA		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BTRC_chr10_101349165_101562313	101415486	TTTATGTT others(43): Show TTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT G	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01243.hp1 others(31): Show HG00639.hp1 HG01081.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG02976.hp2 HG03710.hp1 HG03927.hp1 HG04204.hp1 NA18944.hp2 NA18948.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18998.hp1 NA19003.hp2 NA19011.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0006c0005t0002	a0001c0001t0001g0117 a0001c0001t0002g0014 a0001c0001t0002g0020 others(31): Show a0001c0001t0001g0117 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0003g0182 a0001c0001t0003g0227 a0001c0001t0005g0207 a0001c0001t0006g0057 a0001c0001t0010g0072 a0001c0001t0011g0071 a0001c0001t0013g0263 a0006c0005t0002g0069	34	46	0.7391	-50	c.49- others(67): Show c.49-14839_49-14790delGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
C11orf16_chr11_8915076_8937947	8919040	AAGTAGAG others(43): Show AAGTAGAGTGTTCTTTTTATAATCCTTCATGTTCATATAACACTTTAGCA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-50	c.13 others(61): Show c.1383_*1432delATGCTAAAGTGTTATATGAACATGAAGGATTATA AAAAGAACACTCTACT		C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding					1035		chr11	TogoVar
C16orf95_chr16_87297814_87322392	87302463	TTAATGGT others(43): Show TTAATGGTATGGGACTTTTTGCAGTGAATGTTCTAGAATGAGCAGTGATG G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	456	0.0022	-50	c.54 others(59): Show c.544_*593delCCATCACTGCTCATTCTAGAACATTCACTGCAAAAA GTCCCATACCATTA		C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding					350		chr16	TogoVar
C16orf95_chr16_87297814_87322392	87304344	GTGCCCGG others(43): Show GTGCCCGGCCTCGCCCATCCTCTAAGGCTGGGATCCAGGTGTGGGCCACC A	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG02647.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0103 a0002c0001t0001g0171 a0001c0002t0001g0103 a0002c0001t0001g0171	2	456	0.0044	-50	c.702 others(67): Show c.702-1319_702-1270delTGGTGGCCCACACCTGGATCCCAGCCTT AGAGGATGGGCGAGGCCGGGCA		C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6						chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390054	GGCAGAGG others(43): Show GGCAGAGGCAGGAGACTTGCTAGAGTCCAGGAGTTTGAGACCAGCCTAGG C	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	440	0.0023	-50	c.750 others(65): Show c.750+693_750+742delGCAGAGGCAGGAGACTTGCTAGAGTCCAGG AGTTTGAGACCAGCCTAGGC		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6						chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361967	TGCATATA others(43): Show TGCATATATTATATAATTTGTAACATATGCATATATTATATAATTTGTAA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	370	0.0027	-50	c.55 others(61): Show c.5521_*5570delGCATATATTATATAATTTGTAACATATGCATATA TTATATAATTTGTAAC		C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding					2779		chr18	TogoVar
C1GALT1C1L_chr2_43670151_43681429	43677904	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGAC G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	394	0.0025	-50	c.-16 others(61): Show c.-1632_-1583delCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCCGGCCAGCCGCCCC		C1GALT1C1L	ENSG00000223658.8	transcript	ENST00000475092.4	protein_coding					1476		chr2	TogoVar
C1QB_chr1_22648236_22666637	22659296	GGATGGAT others(43): Show GGATGGATGGATGGATGGATGGATGGATGGATGCAGATGGAGGAATAGAG A	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02135.hp2 HG02735.hp1 others(1): Show HG00673.hp1 HG02135.hp2 HG02735.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0009 a0001c0001t0001g0082	4	428	0.0093	-50	c.-23 others(64): Show c.-23-111_-23-62delCAGATGGAGGAATAGAGAGATGGATGGATGG ATGGATGGATGGATGGATG		C1QB	ENSG00000173369.18	transcript	ENST00000509305.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf202_chr1_244724701_244736015	244731978	AATTTTTT others(43): Show AATTTTTTTAAATGAAATTGTTGCCCTCCTACCAAATGGGAAATTAATTT T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-50	c.-11 others(61): Show c.-1105_-1056delAAAATTAATTTCCCATTTGGTAGGAGGGCAACAA TTTCATTTAAAAAAAT		C1orf202	ENSG00000284188.3	transcript	ENST00000640271.3	protein_coding					964		chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203172	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02040.hp2 HG02074.hp2 others(4): Show HG01069.hp1 HG02040.hp2 HG02074.hp2 HG02155.hp2 HG02523.hp1 NA19010.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0074 a0001c0001t0001g0001 a0001c0001t0001g0074	7	38	0.1842	-50	c.42 others(61): Show c.4231_*4280delATATATATATATATATATATATATATATATATAT ATATATATATATATAT		C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding					3547		chr1	TogoVar
C2CD3_chr11_74007718_74176002	74077797	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG03486.hp2 HG01884.hp1 HG02572.hp1 HG03486.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0230 a0006c0008t0001g0238 a0006c0008t0001g0239 a0006c0008t0001g0230 a0006c0008t0001g0238 a0006c0008t0001g0239	3	310	0.0097	-50	c.460 others(67): Show c.4603+268_4603+317delAATATATATATATATATATATATATATA TATATATATATATATATATATA		C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32						chr11	TogoVar
C7orf50_chr7_992006_1143247	1002366	TGGAGTCC others(43): Show TGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCCGGTG G	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0115 a0001c0001t0024g0115	1	324	0.0031	-50	c.324 others(67): Show c.324-1865_324-1816delCCACCGGCAGGACTCCACTCACCCACAG GACTCCCCACCCACAGGACTCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4						chr7	TogoVar

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