Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLPTM1L_chr5_1312752_1350099	1328609	CTCTACAG others(51): Show CTCTACAGACACACTTCATCCAGCTCCTCCTCTACAGACAGTTTTCTTCC AGCTCCTTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	370	0.0027	-58	c.108 others(77): Show c.1080+1613_1080+1670delCAAGGAGCTGGAAGAAAACTGTCTGT AGAGGAGGAGCTGGATGAAGTGTGTCTGTAGA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328879	CACATTCC others(51): Show CACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCC TCTACAGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02280.hp2 others(9): Show HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0001t0001 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 others(9): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237	12	370	0.0324	-58	c.108 others(77): Show c.1080+1343_1080+1400delCCCTGTAGAGGAGGAGCTGGATGAAA TGTGTCTGTAGAGGAGGAGCTGGATGGAATGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329574	TTGGTGGA others(51): Show TTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	370	0.0027	-58	c.108 others(75): Show c.1080+648_1080+705delGGCAGAGAGTCCTGAGGCCCTGTCCACC AGGCAGAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329661	CTGGTGGA others(51): Show CTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	370	0.0054	-58	c.108 others(75): Show c.1080+561_1080+618delAGCAGAGAGTCCTGAGGCCCTGTCCACC AGGCAGAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLSTN2_chr3_139930185_140582397	140490012	ATGTGTGT others(51): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG03130.hp1 others(2): Show HG02572.hp1 HG03098.hp1 HG03130.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0001c0001t0001 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0006g0095 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0006g0095 a0002c0002t0002g0029 a0002c0002t0002g0097	5	110	0.0455	-58	c.134 others(79): Show c.1344+23301_1344+23358delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529633	TTATTATA others(51): Show TTATTATATATTATATATTATTATATATTATATATTATTATATATTATAT ATTATTATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18977.hp1 HG02258.hp2 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0009 a0001c0013t0025 a0001c0004t0009 a0001c0013t0025	a0001c0004t0009g0036 a0001c0013t0025g0333 a0001c0004t0009g0036 a0001c0013t0025g0333	2	382	0.0052	-58	c.929 others(73): Show c.929-914_929-857delTATATATTATATATTATTATATATTATATA TTATTATATATTATATATTATATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN1_chr12_40687439_41077415	40773638	TATATATA others(51): Show TATATATATATATATATACACATATATATATATATACACATATATATATA TATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00673.hp1 others(37): Show HG00280.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG02004.hp1 HG02055.hp2 HG02257.hp2 HG02615.hp1 HG02622.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03654.hp1 HG03927.hp2 NA18747.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18988.hp2 NA19011.hp2 NA19030.hp1 NA19066.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0005t0002 a0001c0005t0007	a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0077 others(37): Show a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0160 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0002g0030 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0004g0054 a0001c0001t0004g0134 a0001c0001t0004g0137 a0001c0001t0004g0170 a0001c0001t0004g0179 a0001c0001t0004g0184 a0001c0001t0004g0216 a0001c0001t0005g0135 a0001c0001t0012g0125 a0001c0001t0013g0133 a0001c0001t0018g0048 a0001c0002t0001g0047 a0001c0002t0001g0092 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0001g0215 a0001c0002t0003g0075 a0001c0002t0004g0117 a0001c0002t0010g0127 a0001c0005t0002g0081 a0001c0005t0007g0148	40	230	0.1739	-58	c.-77 others(77): Show c.-77+81064_-77+81121delCACATATATATATATATACACATATA TATATATATATACACATATATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTNAP2_chr7_146111801_148425998	147347420	TTATATAT others(51): Show TTATATATATATATATATATGCATATATATATATATGCATATATATATAT ATATATGCA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA21309.hp2 HG00735.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0018 a0001c0006t0014 a0001c0001t0018 a0001c0006t0014	a0001c0001t0018g0001 a0001c0006t0014g0033 a0001c0001t0018g0001 a0001c0006t0014g0033	2	40	0.0500	-58	c.149 others(79): Show c.1498+47144_1498+47201delATATATGCATATATATATATATGC ATATATATATATATATATGCATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365908	GCGTGTAT others(51): Show GCGTGTATGCATGTATACATGCGTGTATGCATGTATACATGCGTGTATGC ATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0013 a0001c0009 a0001c0013	a0001c0009t0019 a0001c0013t0003 a0001c0009t0019 a0001c0013t0003	a0001c0009t0019g0027 a0001c0013t0003g0039 a0001c0009t0019g0027 a0001c0013t0003g0039	2	40	0.0500	-58	c.347 others(79): Show c.3476-17740_3476-17683delCGTGTATGCATGTATACATGCGTG TATGCATGTATACATGCGTGTATGCATGTATACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124653630	CTGAGTAA others(51): Show CTGAGTAAGGAATTGTGATGTAGAAAAGTCAAATTACAGGTAGAAAAGAA ACAGTATGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02922.hp1 HG01069.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0003 a0001c0002t0002g0031 a0001c0002t0001g0003 a0001c0002t0002g0031	2	64	0.0313	-58	c.207 others(77): Show c.2077+5673_2077+5730delTGAGTAAGGAATTGTGATGTAGAAAA GTCAAATTACAGGTAGAAAAGAAACAGTATGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
COBL_chr7_51011212_51321809	51013978	AGGCTCTG others(51): Show AGGCTCTGGCGCTTGGTTAGCTCTGAGGTCAGTGTAAGGAAGAGGGGAAC AGGTCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(60): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01109.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp2 HG02004.hp1 HG02056.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19086.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0009 a0017 a0022 a0026 a0028 a0034	a0001c0002 a0001c0004 a0002c0003 others(16): Show a0001c0002 a0001c0004 a0002c0003 a0002c0007 a0002c0019 a0002c0026 a0002c0028 a0003c0001 a0003c0011 a0004c0009 a0004c0010 a0004c0037 a0005c0005 a0009c0012 a0017c0038 a0022c0047 a0026c0061 a0028c0043 a0034c0053	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(17): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0007t0001 a0002c0019t0001 a0002c0026t0001 a0002c0028t0001 a0003c0001t0001 a0003c0001t0013 a0003c0011t0001 a0004c0009t0001 a0004c0010t0001 a0004c0037t0001 a0005c0005t0001 a0009c0012t0001 a0017c0038t0001 a0022c0047t0001 a0026c0061t0001 a0028c0043t0001 a0034c0053t0001	a0001c0002t0001g0136 a0001c0004t0001g0119 a0001c0004t0001g0141 others(60): Show a0001c0002t0001g0136 a0001c0004t0001g0119 a0001c0004t0001g0141 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0197 a0001c0004t0001g0225 a0002c0003t0001g0083 a0002c0003t0001g0088 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0157 a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0007t0001g0174 a0002c0007t0001g0178 a0002c0019t0001g0031 a0002c0026t0001g0209 a0002c0026t0001g0211 a0002c0028t0001g0007 a0002c0028t0001g0128 a0003c0001t0001g0009 a0003c0001t0001g0018 a0003c0001t0001g0025 a0003c0001t0001g0029 a0003c0001t0001g0030 a0003c0001t0001g0034 a0003c0001t0001g0113 a0003c0001t0001g0118 a0003c0001t0001g0123 a0003c0001t0001g0149 a0003c0001t0001g0199 a0003c0001t0001g0202 a0003c0001t0001g0203 a0003c0001t0001g0210 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0218 a0003c0001t0001g0220 a0003c0001t0001g0228 a0003c0001t0013g0186 a0003c0011t0001g0049 a0003c0011t0001g0056 a0003c0011t0001g0068 a0003c0011t0001g0198 a0004c0009t0001g0005 a0004c0009t0001g0017 a0004c0009t0001g0055 a0004c0010t0001g0089 a0004c0010t0001g0129 a0004c0037t0001g0175 a0005c0005t0001g0084 a0005c0005t0001g0085 a0009c0012t0001g0188 a0009c0012t0001g0189 a0009c0012t0001g0194 a0009c0012t0001g0206 a0009c0012t0001g0208 a0017c0038t0001g0154 a0022c0047t0001g0217 a0026c0061t0001g0024 a0028c0043t0001g0201 a0034c0053t0001g0095	63	230	0.2739	-58	c.35 others(69): Show c.3515_*3572delCTCTGACCTGTTCCCCTCTTCCTTACACTGACCT CAGAGCTAACCAAGCGCCAGAGCC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding		2233		chr7	TogoVar
COL11A2_chr6_33157694_33197467	33161196	AGCATCTG others(51): Show AGCATCTGACCAAACGTGACCTTTGGGAAAGTCCTCTTGCTGTTCGGGGG GCGACCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01256.hp2 HG01258.hp2 others(39): Show HG01069.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA19004.hp2 NA19009.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19085.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0033 a0002c0002 others(1): Show a0001c0006 a0001c0033 a0002c0002 a0003c0003	a0001c0006t0001 a0001c0033t0003 a0002c0002t0001 others(1): Show a0001c0006t0001 a0001c0033t0003 a0002c0002t0001 a0003c0003t0001	a0001c0006t0001g0044 a0001c0006t0001g0120 a0001c0033t0003g0052 others(11): Show a0001c0006t0001g0044 a0001c0006t0001g0120 a0001c0033t0003g0052 a0002c0002t0001g0016 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0107 a0002c0002t0001g0112 a0002c0002t0001g0115 a0003c0003t0001g0002 a0003c0003t0001g0007 a0003c0003t0001g0095 a0003c0003t0001g0099 a0003c0003t0001g0100	42	367	0.1144	-58	c.24 others(69): Show c.2424_*2481delAGAGGTCGCCCCCCGAACAGCAAGAGGACTTTCC CAAAGGTCACGTTTGGTCAGATGC	COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding		1497		chr6	TogoVar
COL18A1_chr21_45400165_45518720	45510951	AACACCCC others(51): Show AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA CACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(187): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0018 a0021 a0022 a0024 a0026 a0027 a0028 a0030 a0033 a0034 a0035 a0036 a0037	a0001c0001 a0001c0002 a0001c0003 others(66): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0017 a0001c0019 a0001c0022 a0001c0024 a0001c0027 a0001c0032 a0001c0035 a0001c0037 a0001c0038 a0001c0041 a0001c0053 a0001c0061 a0001c0063 a0001c0064 a0001c0073 a0001c0074 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0087 a0001c0089 a0001c0093 a0001c0098 a0002c0012 a0002c0020 a0002c0067 a0002c0083 a0002c0103 a0003c0009 a0003c0015 a0003c0046 a0003c0047 a0004c0091 a0004c0100 a0005c0036 a0005c0058 a0005c0060 a0006c0026 a0006c0028 a0006c0072 a0007c0034 a0009c0016 a0010c0014 a0011c0040 a0013c0051 a0013c0102 a0014c0039 a0015c0029 a0016c0042 a0018c0095 a0021c0086 a0022c0068 a0024c0066 a0026c0044 a0027c0070 a0028c0097 a0030c0056 a0033c0077 a0034c0075 a0035c0078 a0036c0048 a0037c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0004t0016 a0001c0006t0003 a0001c0011t0001 a0001c0017t0002 a0001c0017t0003 a0001c0019t0003 a0001c0022t0001 a0001c0024t0001 a0001c0027t0001 a0001c0032t0001 a0001c0035t0001 a0001c0037t0001 a0001c0038t0004 a0001c0041t0001 a0001c0053t0001 a0001c0061t0001 a0001c0063t0001 a0001c0064t0001 a0001c0073t0003 a0001c0074t0004 a0001c0079t0001 a0001c0080t0004 a0001c0081t0003 a0001c0082t0008 a0001c0087t0001 a0001c0089t0001 a0001c0093t0001 a0001c0098t0001 a0002c0012t0004 a0002c0020t0001 a0002c0067t0001 a0002c0083t0001 a0002c0103t0001 a0003c0009t0001 a0003c0015t0001 a0003c0046t0001 a0003c0047t0001 a0004c0091t0001 a0004c0100t0001 a0005c0036t0001 a0005c0058t0001 a0005c0060t0001 a0006c0026t0001 a0006c0026t0003 a0006c0028t0003 a0006c0072t0002 a0007c0034t0001 a0009c0016t0001 a0009c0016t0002 a0010c0014t0001 a0011c0040t0001 a0013c0051t0001 a0013c0102t0004 a0014c0039t0009 a0015c0029t0003 a0016c0042t0001 a0018c0095t0001 a0021c0086t0002 a0022c0068t0010 a0024c0066t0010 a0026c0044t0001 a0027c0070t0001 a0028c0097t0001 a0030c0056t0001 a0033c0077t0003 a0034c0075t0001 a0035c0078t0001 a0036c0048t0004 a0037c0049t0004	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 others(187): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0278 a0001c0001t0004g0129 a0001c0001t0004g0223 a0001c0001t0013g0276 a0001c0002t0001g0024 a0001c0002t0001g0095 a0001c0002t0012g0109 a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0221 a0001c0003t0001g0249 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0287 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0112 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0255 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0006t0003g0079 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050 a0001c0017t0002g0179 a0001c0017t0003g0205 a0001c0017t0003g0284 a0001c0019t0003g0065 a0001c0019t0003g0139 a0001c0019t0003g0170 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0024t0001g0229 a0001c0024t0001g0256 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0037t0001g0062 a0001c0037t0001g0157 a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0041t0001g0155 a0001c0053t0001g0244 a0001c0061t0001g0257 a0001c0063t0001g0144 a0001c0064t0001g0061 a0001c0073t0003g0034 a0001c0074t0004g0200 a0001c0079t0001g0042 a0001c0080t0004g0057 a0001c0081t0003g0154 a0001c0082t0008g0053 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0093t0001g0251 a0001c0098t0001g0007 a0002c0012t0004g0040 a0002c0012t0004g0049 a0002c0012t0004g0058 a0002c0012t0004g0199 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0067t0001g0041 a0002c0083t0001g0237 a0002c0103t0001g0136 a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0046t0001g0002 a0003c0047t0001g0069 a0004c0091t0001g0056 a0004c0100t0001g0039 a0005c0036t0001g0245 a0005c0036t0001g0292 a0005c0058t0001g0165 a0005c0060t0001g0063 a0006c0026t0001g0083 a0006c0026t0003g0219 a0006c0028t0003g0059 a0006c0028t0003g0230 a0006c0072t0002g0082 a0007c0034t0001g0141 a0007c0034t0001g0282 a0009c0016t0001g0084 a0009c0016t0001g0209 a0009c0016t0002g0252 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0011c0040t0001g0046 a0011c0040t0001g0076 a0013c0051t0001g0195 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198 a0015c0029t0003g0226 a0015c0029t0003g0227 a0016c0042t0001g0118 a0018c0095t0001g0146 a0021c0086t0002g0176 a0022c0068t0010g0004 a0024c0066t0010g0066 a0026c0044t0001g0037 a0027c0070t0001g0012 a0028c0097t0001g0036 a0030c0056t0001g0044 a0033c0077t0003g0098 a0034c0075t0001g0116 a0035c0078t0001g0115 a0036c0048t0004g0184 a0037c0049t0004g0183	190	292	0.6507	-58	c.369 others(75): Show c.3694-159_3694-102delACACCCCACATACACCCCCAAACACCCC CCACACCCCACACACACAACACACCCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	40/41			chr21	TogoVar
COL4A2_chr13_110302284_110518209	110481833	TTGCTGGA others(51): Show TTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0008 a0002c0113t0008	a0002c0113t0008g0040 a0002c0113t0008g0040	1	372	0.0027	-58	c.275 others(75): Show c.2759-608_2759-551delCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A4_chr2_226997714_227169205	227041790	AAGAAAGA others(51): Show AAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA21309.hp2 NA20300.hp1 NA21309.hp2	a0016 a0021 a0016 a0021	a0016c0065 a0021c0016 a0016c0065 a0021c0016	a0016c0065t0005 a0021c0016t0014 a0016c0065t0005 a0021c0016t0014	a0016c0065t0005g0150 a0021c0016t0014g0019 a0016c0065t0005g0150 a0021c0016t0014g0019	2	284	0.0070	-58	c.350 others(75): Show c.3505+300_3505+357delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCCTTTCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134817635	GCACACCC others(51): Show GCACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCC ACACACACA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	272	0.0037	-58	c.417 others(74): Show c.4177-130_4177-73delACCTGCACCCGAGCTCGTCCCTCTGCCCC TGCAGGCCACACACACACACACCCTGAGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	53/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134817648	ACCTGCAC others(51): Show ACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACA CCCTGAGCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0041 a0001c0026t0041	a0001c0026t0041g0036 a0001c0026t0041g0036	1	272	0.0037	-58	c.417 others(74): Show c.4177-107_4177-50delTGCCCCTGCAGGCCACACACACACACACC CTGAGCGCCTGCACCCGAGCTCGTCCCTC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	53/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COLEC11_chr2_3590112_3649644	3605421	CGAGGAGG others(51): Show CGAGGAGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGAGGGGAGTCAC GTGGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	378	0.0027	-58	c.130 others(74): Show c.130+961_130+1018delAGGGGAGTCACGTGGGTGCCGAGGAGGGG AGGGGAGTCACGTGGGTGCTGAGGAGGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3640415	GATCCCAC others(51): Show GATCCCACAGTGGACACCCACCCCTGTCACATCCCACAGTGGACACCCAC CCCCGTCAC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG06807.hp1 HG03486.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0189 a0002c0002t0001g0190	2	378	0.0053	-58	c.328 others(73): Show c.328+108_328+165delTGTCACATCCCACAGTGGACACCCACCCCC GTCACATCCCACAGTGGACACCCACCCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3640452	AGTGGACA others(51): Show AGTGGACACCCACCCCCGTCACATCCCACAGTGGACACCCACCCCCGTCA CATCCCACG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0182 a0002c0005t0002g0182	1	378	0.0027	-58	c.328 others(73): Show c.328+150_328+207delAGTGGACACCCACCCCCGTCACATCCCACG GTGGACACCCACCCCCGTCACATCCCAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPA6_chr8_67417038_67751360	67475767	CTCTTTCT others(51): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	144	0.0069	-58	c.838 others(75): Show c.838+7943_838+8000delAAAGAAAGGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPO_chr2_206934518_206974474	206943674	TGATAGAT others(51): Show TGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATGGA TAGATGATA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	422	0.0024	-58	c.68+ others(73): Show c.68+4051_68+4108delGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CREM_chr10_35121846_35217953	35186984	ATATATAT others(51): Show ATATATATTATATATTATATATAATATAATATATAATATATATCACATAT AATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	294	0.0034	-58	c.410 others(75): Show c.410-1208_410-1151delTATATATTATATATAATATAATATATAA TATATATCACATATAATATATATTATATAT	CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CRPPA_chr7_16082525_16426538	16089200	ATACGTAC others(51): Show ATACGTACGTATATACATATATGTGTGTATGCGTACGTATATACATATAT GTGTGTATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02970.hp1 NA20129.hp2 HG02559.hp1 HG02970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0025 a0001c0001t0025 a0002c0002t0025	a0001c0001t0025g0049 a0002c0002t0025g0213 a0002c0002t0025g0214 a0001c0001t0025g0049 a0002c0002t0025g0213 a0002c0002t0025g0214	3	290	0.0103	-58	c.24 others(69): Show c.2437_*2494delCATACACACATATATGTATATACGTACGCATACA CACATATATGTATATACGTACGTA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	10/10	2437		chr7	TogoVar
CRTC3_chr15_90524923_90650345	90643593	AGGCCTAA others(51): Show AGGCCTAATTCATGGAAGCATCATTAGTCATCAATACCTTCTCATAAAAT AGATGGGCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0029 a0001c0015t0029	a0001c0015t0029g0042 a0001c0015t0029g0042	1	276	0.0036	-58	c.14 others(69): Show c.1454_*1511delGGCCTAATTCATGGAAGCATCATTAGTCATCAAT ACCTTCTCATAAAATAGATGGGCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	15/15	1454		chr15	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666773	AAGAAAGA others(51): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	238	0.0042	-58	c.-39 others(79): Show c.-391-64966_-391-64909delCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671502	TATATATA others(51): Show TATATATATATGATCATATATATGATCATATATATATATATATGATCATA TATATGATC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG01261.hp1 HG02055.hp1	a0001 a0006 a0001 a0006	a0001c0108 a0006c0083 a0001c0108 a0006c0083	a0001c0108t0054 a0006c0083t0004 a0001c0108t0054 a0006c0083t0004	a0001c0108t0054g0074 a0006c0083t0004g0006 a0001c0108t0054g0074 a0006c0083t0004g0006	2	126	0.0159	-58	c.100 others(79): Show c.1009+36854_1009+36911delGATCATATATATGATCATATATAT ATATATATGATCATATATATGATCATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772440	TATATATA others(51): Show TATATATACACATATATATACATATATACACATATATATACATATATACA CATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0005 a0001c0102t0005	a0001c0102t0005g0034 a0001c0102t0005g0034	1	126	0.0079	-58	c.819 others(77): Show c.819-18456_819-18399delGTATATATGTGTATATATGTATATAT ATGTGTATATATGTATATATATGTGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486109	GTATATAT others(51): Show GTATATATACATACATATATATATATATACATACATATATATATATATAC ATACATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	126	0.0079	-58	c.303 others(77): Show c.303-66102_303-66045delTATATGTATGTATATATATATATATG TATGTATATATATATATATGTATGTATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920892	AAAAGAAA others(51): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAA GAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG03130.hp1 others(1): Show HG02723.hp1 HG02886.hp2 HG03130.hp1 NA20129.hp2	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0026 a0001c0111 a0002c0078 others(1): Show a0001c0026 a0001c0111 a0002c0078 a0024c0038	a0001c0026t0006 a0001c0111t0045 a0002c0078t0044 others(1): Show a0001c0026t0006 a0001c0111t0045 a0002c0078t0044 a0024c0038t0075	a0001c0026t0006g0093 a0001c0111t0045g0063 a0002c0078t0044g0064 others(1): Show a0001c0026t0006g0093 a0001c0111t0045g0063 a0002c0078t0044g0064 a0024c0038t0075g0067	4	126	0.0318	-58	c.85+ others(75): Show c.85+73382_85+73439delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542614	ATATATAT others(51): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	390	0.0026	-58	c.230 others(75): Show c.230+7403_230+7460delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542636	ATATGTAT others(51): Show ATATGTATATATATATATATATATATATATATATATGTATATATATATAT ATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	390	0.0026	-58	c.230 others(75): Show c.230+7381_230+7438delAATATATATATATATATATATACATATA TATATATATATATATATATATATATACATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNKA2IP_chr3_88333456_88472594	88435873	ATGTGCAT others(51): Show ATGTGCATTATATATATAATGCACATTATGTGTGCATTATATATATAATG CACATTATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(86): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18943.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0008 a0016 a0017 a0019	a0001c0001 a0001c0004 a0001c0012 others(9): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0002c0002 a0002c0011 a0003c0003 a0007c0010 a0008c0009 a0016c0016 a0017c0020 a0019c0019	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0012t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0002 a0002c0011t0001 a0003c0003t0001 a0003c0003t0002 a0007c0010t0002 a0008c0009t0001 a0008c0009t0002 a0016c0016t0001 a0017c0020t0001 a0019c0019t0001	a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0099 others(84): Show a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0001 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0321 a0001c0001t0002g0366 a0001c0004t0001g0061 a0001c0004t0001g0090 a0001c0004t0001g0236 a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0017t0001g0226 a0002c0002t0001g0077 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0011t0001g0005 a0002c0011t0001g0199 a0002c0011t0001g0200 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0237 a0003c0003t0002g0315 a0003c0003t0002g0373 a0007c0010t0002g0296 a0007c0010t0002g0297 a0007c0010t0002g0300 a0008c0009t0001g0011 a0008c0009t0001g0012 a0008c0009t0002g0275 a0016c0016t0001g0029 a0017c0020t0001g0196 a0019c0019t0001g0235	89	386	0.2306	-58	c.-27 others(79): Show c.-270-29169_-270-29112delAATGCACATTATGTGTGCATTATA TATATAATGCACATTATGTGTGCATTATATATAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CST2_chr20_23818769_23831729	23831622	GTTGGTAA others(51): Show GTTGGTAACACATTTGGCTCTGCTAGGACATGTGGAAGGTCCTAAACTAT GGGCCAATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	470	0.0021	-58	c.-50 others(69): Show c.-5020_-4963delTATTGGCCCATAGTTTAGGACCTTCCACATGTCC TAGCAGAGCCAAATGTGTTACCAA	CST2	ENSG00000170369.4	transcript	ENST00000304725.3	protein_coding		4894		chr20	TogoVar
CT45A3_chrX_135755044_135773191	135759356	ATATATAT others(51): Show ATATATATATATATATATATATACCATATATATATGGTATATATACCATA TATATATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp1 others(129): Show HG00099.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19089.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0003c0006t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0002g0068 a0001c0001t0003g0047 a0001c0001t0004g0043 a0001c0001t0005g0050 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0066 a0002c0002t0001g0074 a0003c0006t0001g0061 a0005c0004t0001g0060	132	160	0.8250	-58	c.93 others(67): Show c.938_*995delCCATATATATATGGTATATATACCATATATATATGG TATATATATATATATATATATA	CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding		687		chrX	TogoVar
CTNNA3_chr10_65907523_67701195	66980448	TTTCTGTT others(51): Show TTTCTGTTTCCCAAGCAAAAATCAGAATTGAACAGGAACCAAAACTATTG AGACCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG03195.hp1 others(1): Show HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0004t0001 a0001c0007t0015 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0007t0015 a0002c0002t0026	a0001c0001t0002g0009 a0001c0004t0001g0018 a0001c0007t0015g0016 others(1): Show a0001c0001t0002g0009 a0001c0004t0001g0018 a0001c0007t0015g0016 a0002c0002t0026g0046	4	46	0.0870	-58	c.104 others(81): Show c.1047+199811_1047+199868delGGAAGGTCTCAATAGTTTTGGT TCCTGTTCAATTCTGATTTTTGCTTGGGAAACAGAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(51): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGA GAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00597.hp1 others(40): Show HG00140.hp1 HG00423.hp1 HG00597.hp1 HG00673.hp2 HG01261.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp2 HG02145.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03492.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18948.hp2 NA18951.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA19059.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0002 a0013 a0018 others(1): Show a0002 a0013 a0018 a0026	a0002c0003 a0002c0008 a0002c0035 others(3): Show a0002c0003 a0002c0008 a0002c0035 a0013c0012 a0018c0018 a0026c0037	a0002c0003t0001 a0002c0003t0003 a0002c0008t0001 others(4): Show a0002c0003t0001 a0002c0003t0003 a0002c0008t0001 a0002c0035t0001 a0013c0012t0001 a0018c0018t0001 a0026c0037t0001	a0002c0003t0001g0001 a0002c0003t0001g0022 a0002c0003t0001g0065 others(10): Show a0002c0003t0001g0001 a0002c0003t0001g0022 a0002c0003t0001g0065 a0002c0003t0001g0069 a0002c0003t0003g0066 a0002c0008t0001g0010 a0002c0008t0001g0056 a0002c0035t0001g0198 a0013c0012t0001g0021 a0018c0018t0001g0064 a0018c0018t0001g0068 a0018c0018t0001g0109 a0026c0037t0001g0067	43	398	0.1080	-58	c.344 others(73): Show c.344-193_344-136delCTCTCTCTCTCTCTCTCTCTCTCCCTCGTG TTTCTCTGACTGAGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15674402	CTCACTCA others(51): Show CTCACTCACTCATTCCTCTCCTCACTCGCGCATTCCTCTCATTCGCGCAT TCCTCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	410	0.0024	-58	c.198 others(73): Show c.198+683_198+740delCTCATTCCTCTCCTCACTCGCGCATTCCTC TCATTCGCGCATTCCTCTCATTCACTCA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760385	ACACACAC others(51): Show ACACACACATACATATATATATGTGTATATATATATATATACACATACAT ATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	378	0.0027	-58	c.22+ others(75): Show c.22+21759_22+21816delCATATATATATGTATGTGTATATATATA TATATACACATATATATATGTATGTGTGTG	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DACH1_chr13_71432966_71872204	71816573	TATATACA others(51): Show TATATACACGTATATATATACACACATATGTGTGTATATATATACACGTG TATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0088 a0002c0002t0003g0088	1	102	0.0098	-58	c.848 others(77): Show c.848+49291_848+49348delGTATATATACACGTGTATATATATAC ACACATATGTGTGTATATATATACGTGTATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DAPL1_chr2_158790317_158820990	158791937	TTCTTTCT others(51): Show TTCTTTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01358.hp2 HG01515.hp1 others(3): Show HG00639.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0003c0004t0002 a0001c0001t0002 a0003c0004t0001 a0003c0004t0002	a0001c0001t0002g0078 a0003c0004t0001g0069 a0003c0004t0002g0010 others(3): Show a0001c0001t0002g0078 a0003c0004t0001g0069 a0003c0004t0002g0010 a0003c0004t0002g0068 a0003c0004t0002g0070 a0003c0004t0002g0071	6	360	0.0167	-58	c.-34 others(69): Show c.-3435_-3378delTCTTTCTCTCTTTCTTTCTTTCTCTCTTTCTTTC TTTCTTTCTTTCTTTCTCTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3379		chr2	TogoVar
DCC_chr18_52335197_53540899	53047254	ATATATAT others(51): Show ATATATATATATATATATATATATATATATATATAATTTTATATATATAT ATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG00738.hp1 HG01346.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0016 a0001c0003 a0008c0016	a0001c0003t0016 a0008c0016t0021 a0001c0003t0016 a0008c0016t0021	a0001c0003t0016g0007 a0008c0016t0021g0033 a0001c0003t0016g0007 a0008c0016t0021g0033	2	114	0.0175	-58	c.986 others(77): Show c.986-16038_986-15981delTATATATATATATATATATATAATTT TATATATATATATATAATTTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53206332	CATATATG others(51): Show CATATATGTATATATGTATATATACATATATGTATTGTAACACATATATG TATATATGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0112 a0001c0002t0033g0112	1	114	0.0088	-58	c.172 others(76): Show c.1722+975_1722+1032delGTATATATGTATATATACATATATGTA TTGTAACACATATATGTATATATGTATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351311	ATATACAC others(51): Show ATATACACTGTATATATATATACAGTGTATATATATATACACAGTATATA TATATACTG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0019 a0002c0001t0002g0019	1	114	0.0088	-58	c.235 others(79): Show c.2359+11409_2359+11466delCACTGTATATATATATACAGTGTA TATATATATACACAGTATATATATATACTGTATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLRE1C_chr10_14899613_14959096	14943325	ACGTCCAT others(51): Show ACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACC TTGTCTTTC	A A	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	392	0.0026	-58	c.246 others(75): Show c.246+1722_246+1779delGAAAGACAAGGTTTGAAGAGGGTGTCAC TGTTAAAAGGAGCCATGGGTCATATGGACG	DCLRE1C	ENSG00000152457.19	transcript	ENST00000378278.7	protein_coding	3/13			chr10	TogoVar
DDA1_chr19_17304563_17328298	17315150	CGTATATA others(51): Show CGTATATATACACACGTGTATATACACACACGTGTATACACACACGTGTA TACACACGT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	388	0.0026	-58	c.136 others(73): Show c.136+769_137-719delTACACACGTGTATATACACACACGTGTATA CACACACGTGTATACACACGTGTATATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315172	TACACACA others(51): Show TACACACACGTGTATACACACACGTGTATACACACGTGTATATACACACA CGTGTATAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0240 a0001c0001t0022g0240	1	388	0.0026	-58	c.137 others(73): Show c.137-746_137-689delCACACACGTGTATACACACGTGTATATACA CACACGTGTATACACACACACGTGTATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DEPDC4_chr12_100235062_100272079	100258693	AGTATTTG others(51): Show AGTATTTGAGAAATTATTTCCACCTAGAATTCTGTCAATCAAATAAGAGG CTAGAATAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02559.hp2 others(5): Show HG01884.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG03130.hp2 HG03834.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 others(5): Show a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0245	8	358	0.0224	-58	c.701 others(75): Show c.701-2525_701-2468delGTATTCTAGCCTCTTATTTGATTGACAG AATTCTAGGTGGAAATAATTTCTCAAATAC	DEPDC4	ENSG00000166153.17	transcript	ENST00000550587.6	protein_coding	3/9			chr12	TogoVar
DHRS12_chr13_51762993_51809163	51774698	AGTATTCT others(51): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02922.hp1 others(1): Show HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0247 a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0247	4	420	0.0095	-58	c.364 others(73): Show c.364-722_364-665delGTAGGAGAATACTGTAGGAGAATACATGTA CTGTAGGAGAATACATGTAGTAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775798	AGTATTCT others(51): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02148.hp2 HG02572.hp1 others(3): Show HG00735.hp1 HG02148.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0259 a0001c0001t0003g0296 a0002c0002t0003g0049 others(3): Show a0001c0001t0003g0259 a0001c0001t0003g0296 a0002c0002t0003g0049 a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0207	6	420	0.0143	-58	c.363 others(75): Show c.363+1204_363+1261delGTAGGAGAATACTGTAGGAGAATACATG TACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar

Search by Variant

Search

Search Results