Joint Open Genome and Omics Platform (JoGo)

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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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNOT4_chr7_135356795_135515102	135495686	AAAAAAAA others(45): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00735.hp1 others(14): Show HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 others(14): Show a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344	17	283	0.0601	-52	c.-93 others(71): Show c.-93+14151_-93+14202delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNST_chr1_246561456_246673595	246620043	TCTACAGG others(45): Show TCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGA ACA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	318	0.0031	-52	c.380 others(69): Show c.380-1365_380-1314delGTCGTGCATACACACGATGGGCTCTGGG AACACTACAGGGAGGACGGCTTCA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246620259	TCTACAGG others(45): Show TCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGA ACA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	315	0.0032	-52	c.380 others(69): Show c.380-1115_380-1064delACAGGGAGGACGGCTTCAGTCGTGCATA CACACGATGGGCTCTGGGAACACT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN5_chr11_99015949_100363885	99598282	TTCTTTTC others(45): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTGTCCCT CTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00735.hp2 others(5): Show HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp1 HG02109.hp1 HG03471.hp2 NA18957.hp2 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0006c0005 a0011c0009	a0001c0001t0004 a0001c0001t0011 a0002c0002t0022 others(4): Show a0001c0001t0004 a0001c0001t0011 a0002c0002t0022 a0003c0003t0002 a0004c0006t0009 a0006c0005t0010 a0011c0009t0005	a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0011g0062 others(5): Show a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0011g0062 a0002c0002t0022g0010 a0003c0003t0002g0002 a0004c0006t0009g0042 a0006c0005t0010g0006 a0011c0009t0005g0056	8	61	0.1311	-52	c.55+ others(69): Show c.55+42017_55+42068delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTGTCCCTCTCTCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245231	TATATACA others(45): Show TATATACACACACACATATATATATAACATATATATATATATATACACAC ACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0185 a0001c0006t0001g0185	1	210	0.0048	-52	c.358 others(71): Show c.358+17239_358+17290delATATACACACACACATATATATATAA CATATATATATATATATACACACACA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151646	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATGTATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0014 a0001c0010t0002g0014	1	40	0.0250	-52	c.97+ others(69): Show c.97+34689_97+34740delATATATATATATATATATATGTATATAT ATATATATGTATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(45): Show TTATATACATATATATATATATATATATATATATATATATATATATATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0010 a0003c0003t0007 a0001c0001t0010 a0003c0003t0007	a0001c0001t0010g0240 a0003c0003t0007g0260 a0001c0001t0010g0240 a0003c0003t0007g0260	2	74	0.0270	-52	c.391 others(71): Show c.391-29507_391-29456delCATATATATATATATATATATATATA TATATATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124713285	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0045 a0001c0002t0005g0045	1	61	0.0164	-52	c.207 others(73): Show c.2078-33942_2078-33891delTTCTTTCTTTCTTTCTTCTTTCTC TTTCTTTCCTTTCTTTCTTTCTTTCTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860414	CCCTTCCT others(45): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02257.hp2 HG02698.hp1 others(3): Show HG01069.hp1 HG02257.hp2 HG02698.hp1 HG02922.hp2 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0005g0041 a0001c0002t0001g0003 a0001c0002t0005g0045	6	46	0.1304	-52	c.321 others(71): Show c.3218-4810_3218-4759delCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COG1_chr17_73188055_73213507	73192818	CCGCGCCC others(45): Show CCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCC CCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03688.hp1 HG03017.hp2 HG03688.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0014 a0003c0005t0001g0044 a0003c0005t0001g0014 a0003c0005t0001g0044	2	417	0.0048	-52	c.-25 others(61): Show c.-251_-200delCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCC CTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		236		chr17	TogoVar
COG3_chr13_45459939_45541701	45513217	ATATATAT others(45): Show ATATATATATAATATATACATATAAATTATACATATAATATATACATATA AAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG00408.hp1 HG02015.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0158 a0002c0005t0003g0159	2	130	0.0154	-52	c.180 others(71): Show c.1809+1372_1809+1423delTAATATATACATATAAATTATACATA TAATATATACATATAAATTATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL20A1_chr20_63288186_63339806	63314805	CCCCCAGG others(45): Show CCCCCAGGACACGCGTGCCCCCAGCCTGCCCGCACACCAGGCATCTCCCT GGA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01106.hp2 others(16): Show HG00323.hp2 HG00741.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01891.hp2 HG02055.hp1 HG02818.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18906.hp2 NA18983.hp2 NA19043.hp1 NA19057.hp1	a0003 a0008 a0014 others(4): Show a0003 a0008 a0014 a0023 a0026 a0028 a0031	a0003c0003 a0003c0043 a0008c0012 others(5): Show a0003c0003 a0003c0043 a0008c0012 a0014c0027 a0023c0025 a0026c0024 a0028c0026 a0031c0045	a0003c0003t0006 a0003c0003t0009 a0003c0003t0045 others(7): Show a0003c0003t0006 a0003c0003t0009 a0003c0003t0045 a0003c0043t0007 a0008c0012t0003 a0014c0027t0002 a0023c0025t0025 a0026c0024t0033 a0028c0026t0025 a0031c0045t0047	a0003c0003t0006g0008 a0003c0003t0006g0035 a0003c0003t0006g0036 others(15): Show a0003c0003t0006g0008 a0003c0003t0006g0035 a0003c0003t0006g0036 a0003c0003t0006g0037 a0003c0003t0006g0038 a0003c0003t0006g0072 a0003c0003t0006g0073 a0003c0003t0006g0074 a0003c0003t0009g0068 a0003c0003t0045g0233 a0003c0043t0007g0137 a0008c0012t0003g0203 a0008c0012t0003g0209 a0014c0027t0002g0102 a0023c0025t0025g0030 a0026c0024t0033g0042 a0028c0026t0025g0181 a0031c0045t0047g0177	19	288	0.0660	-52	c.248 others(69): Show c.2489-547_2489-496delACCCCAGGACACGCGTGCCCCCAGCCTG CCCGCACACCAGGCATCTCCCTGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178301973	GGAGCACA others(45): Show GGAGCACAGCCTCAATCCACCTCTGTGTGTGCCGGAGCACAGCTTCAATC CAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp1 others(54): Show HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02895.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18943.hp1 NA18964.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19012.hp2 NA19063.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(9): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0009 a0002c0018 a0003c0004 a0003c0007 a0003c0019 a0004c0006 a0005c0008 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0005t0001 a0001c0005t0002 a0002c0002t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0009t0008 a0002c0018t0009 a0003c0004t0003 a0003c0007t0001 a0003c0019t0010 a0004c0006t0003 a0004c0006t0004 a0005c0008t0002 a0006c0010t0002	a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0153 others(54): Show a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0003g0119 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0063 a0001c0001t0004g0108 a0001c0001t0004g0164 a0001c0001t0004g0174 a0001c0001t0004g0185 a0001c0001t0004g0193 a0001c0001t0004g0204 a0001c0001t0005g0009 a0001c0001t0005g0099 a0001c0001t0005g0107 a0001c0001t0005g0133 a0001c0001t0005g0216 a0001c0001t0014g0224 a0001c0005t0001g0042 a0001c0005t0002g0120 a0002c0002t0001g0014 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0081 a0002c0002t0001g0096 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0011g0038 a0002c0003t0001g0152 a0002c0003t0002g0206 a0002c0003t0003g0094 a0002c0003t0003g0173 a0002c0003t0004g0077 a0002c0003t0004g0078 a0002c0003t0005g0068 a0002c0003t0006g0229 a0002c0009t0008g0235 a0002c0018t0009g0233 a0003c0004t0003g0010 a0003c0004t0003g0145 a0003c0007t0001g0012 a0003c0007t0001g0137 a0003c0019t0010g0236 a0004c0006t0003g0128 a0004c0006t0004g0135 a0004c0006t0004g0136 a0005c0008t0002g0050 a0006c0010t0002g0117	57	228	0.2500	-52	c.406 others(69): Show c.406+4850_406+4901delGTGGATTGAAGCTGTGCTCCGGCACACA CAGAGGTGGATTGAGGCTGTGCTC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547606	CACACCCC others(45): Show CACACCCCCCACACACACCCACCCACACCCCCCCACACACACACACCCCC CAT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	236	0.0042	-52	c.361 others(71): Show c.361+13024_361+13075delATGGGGGGTGTGTGTGTGTGGGGGGG TGTGGGTGGGTGTGTGTGGGGGGTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489662	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT TCA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0023 a0001c0001t0011 a0001c0005t0023	a0001c0001t0011g0107 a0001c0005t0023g0111 a0001c0001t0011g0107 a0001c0005t0023g0111	2	171	0.0117	-52	c.385 others(71): Show c.385+41877_385+41928delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCAT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL3A1_chr2_188969373_189017746	188980353	GAATTCTA others(45): Show GAATTCTAAAAGATTAATCTTTTAGACAATTCTAAAAGATTAATCTTTTA GAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(134): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02965.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0005 others(6): Show a0001c0001 a0002c0002 a0003c0005 a0004c0008 a0005c0011 a0006c0009 a0007c0010 a0008c0016 a0009c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001 a0003c0005t0002 a0004c0008t0001 a0005c0011t0001 a0006c0009t0005 a0007c0010t0001 a0008c0016t0001 a0009c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0003g0190 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0011g0011 a0001c0001t0012g0174 a0002c0002t0001g0242 a0003c0005t0002g0188 a0004c0008t0001g0170 a0004c0008t0001g0201 a0005c0011t0001g0001 a0005c0011t0001g0071 a0006c0009t0005g0133 a0006c0009t0005g0134 a0007c0010t0001g0263 a0007c0010t0001g0265 a0008c0016t0001g0003 a0009c0015t0001g0168	137	299	0.4582	-52	c.80- others(67): Show c.80-4337_80-4286delCTTTTAGACAATTCTAAAAGATTAATCTTT TAGACAATTCTAAAAGATTAAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	1/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110252416	GTATATGT others(45): Show GTATATGTATTATATATGTATAATTATACGTATATGTATTATATACATAT AAT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	342	0.0029	-52	c.85- others(67): Show c.85-9734_85-9683delATTATATGTATATAATACATATACGTATAA TTATACATATATAATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(45): Show GAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAG AAA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	238	0.0042	-52	c.350 others(69): Show c.3505+317_3505+368delTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTTCTTTCTTTCTTTCCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134792850	CGCACACG others(45): Show CGCACACGTGTGTGTGCGCGCGTTTGTGCACACGTGTGTGTGCGCGCGTG TGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0052 a0001c0003t0036g0052	1	268	0.0037	-52	c.270 others(71): Show c.2701-2227_2701-2176delACGTGTGTGTGCGCGCGTTTGTGCAC ACGTGTGTGTGCGCGCGTGTGTGCAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134792858	TGTGTGTG others(45): Show TGTGTGTGCGCGCGTTTGTGCACACGTGTGTGTGCGCGCGTGTGTGCACG CGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02155.hp2 others(16): Show HG01891.hp2 HG02055.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp1 NA18950.hp1 NA18983.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp2 NA20129.hp1 NA21309.hp1	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0016 a0001c0025 a0006c0062 a0014c0053	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0031 a0001c0002t0002 a0001c0003t0007 a0001c0003t0008 a0001c0003t0025 a0001c0003t0032 a0001c0007t0014 a0001c0011t0007 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0025t0008 a0006c0062t0011 a0014c0053t0029	a0001c0001t0001g0033 a0001c0001t0003g0133 a0001c0001t0003g0146 others(16): Show a0001c0001t0001g0033 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0012g0242 a0001c0001t0031g0075 a0001c0002t0002g0096 a0001c0003t0007g0005 a0001c0003t0008g0186 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0032g0006 a0001c0007t0014g0044 a0001c0011t0007g0027 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0025t0008g0202 a0006c0062t0011g0026 a0014c0053t0029g0134	19	270	0.0704	-52	c.270 others(71): Show c.2701-2216_2701-2165delCGCGCGTTTGTGCACACGTGTGTGTG CGCGCGTGTGTGCACGCGCGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45977775	GAGGAGGG others(45): Show GAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAG AGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0014 a0008c0016t0014	a0008c0016t0014g0090 a0008c0016t0014g0090	1	126	0.0079	-52	c.-40 others(63): Show c.-4075_-4024delAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAG AGGAGGGAGGGGGAGAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3994		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977805	GAGAGAGG others(45): Show GAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGG GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	126	0.0079	-52	c.-40 others(63): Show c.-4045_-3994delAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGG AGAGAGGAGGGAGGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3964		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977807	GAGAGGAG others(45): Show GAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGG AGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(42): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA19004.hp1 NA19004.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0009 a0012 a0016	a0001c0001 a0001c0003 a0001c0017 others(10): Show a0001c0001 a0001c0003 a0001c0017 a0001c0021 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0006c0011 a0009c0029 a0012c0015 a0016c0032	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0017t0003 a0001c0021t0002 a0001c0024t0003 a0001c0035t0002 a0002c0002t0004 a0002c0008t0004 a0003c0004t0001 a0003c0004t0002 a0006c0011t0002 a0009c0029t0003 a0012c0015t0002 a0016c0032t0002	a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0079 others(42): Show a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0016g0101 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0025 a0001c0003t0003g0034 a0001c0003t0006g0024 a0001c0003t0006g0026 a0001c0003t0006g0059 a0001c0003t0015g0106 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0024t0003g0031 a0001c0035t0002g0010 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0027 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0008t0004g0032 a0003c0004t0001g0061 a0003c0004t0002g0092 a0003c0004t0002g0100 a0006c0011t0002g0111 a0009c0029t0003g0028 a0012c0015t0002g0089 a0016c0032t0002g0008	45	126	0.3571	-52	c.-40 others(63): Show c.-4043_-3992delAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAG AGAGGAGGGAGGGGGAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3962		chr21	TogoVar
CPN2_chr3_194334768_194356328	194347678	TCAGCCCA others(45): Show TCAGCCCACCCCACCCTCTGCCCAGTTCAGCCCACCCCATCTGCTGCCCT GGC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	438	0.0023	-52	c.-4+ others(67): Show c.-4+3512_-4+3563delGCCAGGGCAGCAGATGGGGTGGGCTGAACT GGGCAGAGGGTGGGGTGGGCTG	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131776234	ATTTGTTA others(45): Show ATTTGTTATGGACCTGATGTCAATACCTCCTTCAGTAAGATTGTGTCCCT TCT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02735.hp1 others(9): Show HG01169.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG04228.hp2 NA18522.hp2 NA18946.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0002g0076 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0003g0023 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0009g0067 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0003t0001g0005	12	92	0.1304	-52	c.181 others(71): Show c.181-52661_181-52610delAGAAGGGACACAATCTTACTGAAGGA GGTATTGACATCAGGTCCATAACAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588065	CCCCCCGT others(45): Show CCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02273.hp2 HG02280.hp1 others(3): Show HG02071.hp1 HG02273.hp2 HG02280.hp1 HG03225.hp1 HG03225.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0007t0006 a0002c0003t0003	a0001c0001t0001g0145 a0001c0002t0004g0136 a0001c0007t0006g0075 others(3): Show a0001c0001t0001g0145 a0001c0002t0004g0136 a0001c0007t0006g0075 a0001c0007t0006g0154 a0001c0007t0006g0157 a0002c0003t0003g0116	6	335	0.0179	-52	c.928 others(67): Show c.928-600_928-549delTACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588075	TACCCACA others(45): Show TACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGT GTC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18945.hp2 HG01928.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0004 a0002c0010t0001 a0001c0002t0004 a0002c0010t0001	a0001c0002t0004g0057 a0002c0010t0001g0239 a0001c0002t0004g0057 a0002c0010t0001g0239	2	126	0.0159	-52	c.928 others(67): Show c.928-595_928-544delACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB5_chr7_28407518_28830894	28560933	TGTGCGTG others(45): Show TGTGCGTGCGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTGCGTGTGTGCG TGC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0179 a0001c0001t0036g0179	1	170	0.0059	-52	c.292 others(69): Show c.292-9428_292-9377delCGTGCGTGTGTGTGCGTGTGTGTGCGTG TGTGTGTGCGTGTGTGCGTGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRISPLD1_chr8_74979505_75039558	75030704	GTGTATAT others(45): Show GTGTATATGTATGTGTGTGTGTCTGTGTATATATGTATGAGTGTGTGTAT ATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0217 a0001c0002t0005g0217	1	366	0.0027	-52	c.145 others(71): Show c.1451+1191_1451+1242delATATGTATGTGTGTGTGTCTGTGTAT ATATGTATGAGTGTGTGTATATATGT	CRISPLD1	ENSG00000121005.9	transcript	ENST00000262207.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRLF2_chrX_1185490_1217649	1211873	GTAGATGG others(45): Show GTAGATGGATGGGTGGATGGGTGGATGGATGGATGGATGTATTGGTGGAT GGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	165	0.0061	-52	c.79+ others(65): Show c.79+631_79+682delTCCATCCACCAATACATCCATCCATCCATCCA CCCATCCACCCATCCATCTA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CSMD1_chr8_2930361_4999914	3671508	TATATGAT others(45): Show TATATGATCATATATATGATCATATATATATATATATGATCATATATATG ATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp1 HG01243.hp1 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0017 a0005c0064 a0001c0017 a0005c0064	a0001c0017t0005 a0005c0064t0050 a0001c0017t0005 a0005c0064t0050	a0001c0017t0005g0003 a0005c0064t0050g0078 a0001c0017t0005g0003 a0005c0064t0050g0078	2	126	0.0159	-52	c.100 others(73): Show c.1009+36854_1009+36905delGATCATATATATGATCATATATAT ATATATATGATCATATATATGATCATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838696	AAATATTA others(45): Show AAATATTATATAGTATAATATATAATAAATTAATATTATATAGTATAATA TAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01243.hp1 others(12): Show HG01081.hp1 HG01123.hp2 HG01243.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0007 a0013 a0018 a0019 a0030 a0032 a0034	a0001c0001 a0001c0003 a0001c0025 others(12): Show a0001c0001 a0001c0003 a0001c0025 a0001c0068 a0002c0035 a0004c0057 a0004c0058 a0005c0064 a0007c0116 a0013c0018 a0018c0042 a0019c0082 a0030c0106 a0032c0024 a0034c0055	a0001c0001t0002 a0001c0003t0008 a0001c0025t0003 others(12): Show a0001c0001t0002 a0001c0003t0008 a0001c0025t0003 a0001c0068t0015 a0002c0035t0047 a0004c0057t0080 a0004c0058t0056 a0005c0064t0050 a0007c0116t0004 a0013c0018t0058 a0018c0042t0004 a0019c0082t0051 a0030c0106t0014 a0032c0024t0077 a0034c0055t0034	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0025t0003g0077 others(12): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0025t0003g0077 a0001c0068t0015g0049 a0002c0035t0047g0076 a0004c0057t0080g0075 a0004c0058t0056g0117 a0005c0064t0050g0078 a0007c0116t0004g0039 a0013c0018t0058g0068 a0018c0042t0004g0004 a0019c0082t0051g0097 a0030c0106t0014g0042 a0032c0024t0077g0104 a0034c0055t0034g0047	15	126	0.1190	-52	c.819 others(71): Show c.819-84706_819-84655delATATATTATACTATATAATATTAATT TATTATATATTATACTATATAATATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542620	ATATATAT others(45): Show ATATATATATATATATATATGTATATATATATATATATATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02027.hp1 others(8): Show HG00639.hp1 HG01109.hp2 HG02027.hp1 HG02523.hp1 HG02683.hp2 HG02922.hp1 HG03540.hp2 HG03831.hp2 NA18612.hp1 NA18945.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0048 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0008g0122 a0001c0001t0008g0173 a0001c0001t0012g0032 a0001c0001t0012g0085 a0001c0001t0016g0030	11	385	0.0286	-52	c.230 others(69): Show c.230+7403_230+7454delCATATATATATATATATATATATATATA TATACATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277657	CAATATTG others(45): Show CAATATTGATATATTTAATAATATAGCAATATTGATATATTTAATAATAT ATT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0006 a0001c0001t0020g0006	1	164	0.0061	-52	c.182 others(71): Show c.182-18468_182-18417delAATATATTATTAAATATATCAATATT GCTATATTATTAAATATATCAATATT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(45): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02922.hp1 HG01978.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0260 a0001c0003t0001g0231 a0001c0001t0001g0260 a0001c0003t0001g0231	2	195	0.0103	-52	c.-29 others(69): Show c.-29+4538_-29+4589delAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CTIF_chr18_48534031_48868217	48730406	CACGGTGT others(45): Show CACGGTGTGTGGGGCCCCTGCGCTGTGAGGGGCCCCTGTGGTGTGAGGGG CTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0047 a0001c0001t0021g0047	1	139	0.0072	-52	c.584 others(71): Show c.584+18712_584+18763delACGGTGTGTGGGGCCCCTGCGCTGTG AGGGGCCCCTGTGGTGTGAGGGGCTT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11			chr18	TogoVar
CTNNA2_chr2_79508051_80653780	80043075	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTCCTT CCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	68	0.0147	-52	c.105 others(75): Show c.1056+133280_1056+133331delTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCTCTCTTTCTTTCTCCTTCCTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80043079	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTCCTTCCTT CCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0039 a0002c0006t0001g0040 a0001c0001t0001g0039 a0002c0006t0001g0040	2	68	0.0294	-52	c.105 others(75): Show c.1056+133284_1056+133335delTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCTTTCTTTCTCCTTCCTTCCTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTSL_chr9_87721119_87736469	87732836	CATCTTTC others(45): Show CATCTTTCACATGATTCTGCCTGGACTTGGCTGTGTGGTTTTCACGTGGA GGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	386	0.0026	-52	c.17 others(63): Show c.1730_*1781delATCTTTCACATGATTCTGCCTGGACTTGGCTGTG TGGTTTTCACGTGGAGGT	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		1368		chr9	TogoVar
CTSS_chr1_150725188_150770778	150729033	GACCCCCC others(45): Show GACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	341	0.0029	-52	c.39 others(63): Show c.3961_*4012delGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGGT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		1154		chr1	TogoVar
CYP1A1_chr15_74714542_74730528	74714561	GTATATAT others(45): Show GTATATATTATATATGTGTATATATAATATATATTATATATGTGTATATA TAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00673.hp2 others(6): Show HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01975.hp2 NA18984.hp1 NA18994.hp2 NA19009.hp1 NA19065.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0021 a0002c0002 a0001c0021 a0002c0002	a0001c0021t0007 a0002c0002t0001 a0001c0021t0007 a0002c0002t0001	a0001c0021t0007g0028 a0002c0002t0001g0003 a0001c0021t0007g0028 a0002c0002t0001g0003	9	295	0.0305	-52	c.58 others(63): Show c.5876_*5927delTTATATATACACATATATAATATATATTATATAT ACACATATATAATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4980		chr15	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(45): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGA GAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG00738.hp1 others(15): Show HG00423.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG02135.hp2 HG02486.hp2 HG02647.hp1 HG02965.hp1 HG03492.hp2 HG03688.hp1 NA18989.hp2 NA19088.hp1 NA20129.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0026	a0001c0001 a0002c0003 a0002c0008 others(4): Show a0001c0001 a0002c0003 a0002c0008 a0002c0027 a0006c0010 a0008c0007 a0026c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0003t0001 a0002c0008t0001 a0002c0027t0001 a0006c0010t0001 a0008c0007t0003 a0026c0029t0001	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0080 others(7): Show a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0080 a0001c0001t0005g0020 a0002c0003t0001g0018 a0002c0008t0001g0008 a0002c0027t0001g0046 a0006c0010t0001g0007 a0008c0007t0003g0004 a0026c0029t0001g0043	18	183	0.0984	-52	c.344 others(67): Show c.344-187_344-136delCTCTCTCTCTCTCTCTCCCTCGTGTTTCTC TGACTGAGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760380	TATATACA others(45): Show TATATACACACACATACATATATATATGTGTATATATATATATATACACA TAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0030 a0001c0001t0011g0030	1	374	0.0027	-52	c.22+ others(69): Show c.22+21770_22+21821delGTATGTGTATATATATATATATACACAT ATATATATGTATGTGTGTGTATAT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAPL1_chr2_158790317_158820990	158791941	TTCTCTCT others(45): Show TTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCT CTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0126 a0001c0001t0002g0127	2	284	0.0070	-52	c.-34 others(63): Show c.-3431_-3380delTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3375		chr2	TogoVar
DCC_chr18_52335197_53540899	52642031	TATATATA others(45): Show TATATATATATATATACTGTGGTGTGTGTGTGTATATATATATATATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(21): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG02080.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02970.hp2 HG03669.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18966.hp1 NA19057.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0008 others(7): Show a0001c0002 a0001c0003 a0001c0008 a0001c0023 a0002c0001 a0002c0004 a0002c0011 a0002c0012 a0002c0018 a0004c0009	a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 others(18): Show a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 a0001c0003t0012 a0001c0003t0030 a0001c0008t0023 a0001c0023t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0015 a0002c0001t0018 a0002c0001t0029 a0002c0004t0003 a0002c0004t0014 a0002c0004t0017 a0002c0011t0003 a0002c0012t0011 a0002c0018t0004 a0004c0009t0002 a0004c0009t0027	a0001c0002t0005g0028 a0001c0003t0001g0058 a0001c0003t0004g0092 others(21): Show a0001c0002t0005g0028 a0001c0003t0001g0058 a0001c0003t0004g0092 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0030g0020 a0001c0008t0023g0098 a0001c0023t0001g0106 a0002c0001t0001g0022 a0002c0001t0001g0079 a0002c0001t0002g0063 a0002c0001t0002g0081 a0002c0001t0005g0088 a0002c0001t0015g0064 a0002c0001t0018g0034 a0002c0001t0029g0040 a0002c0004t0003g0083 a0002c0004t0014g0043 a0002c0004t0017g0062 a0002c0011t0003g0090 a0002c0012t0011g0037 a0002c0018t0004g0071 a0004c0009t0002g0016 a0004c0009t0027g0084	24	113	0.2124	-52	c.92- others(71): Show c.92-110021_92-109970delTATATATATATATACTGTGGTGTGTG TGTGTATATATATATATATATACACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDR2_chr1_162627464_162792405	162760511	TATATATG others(45): Show TATATATGTATATACATATACAACTAGATATATGTATATACATATACAAC TAG	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	204	0.0049	-52	c.855 others(67): Show c.855+591_856-590delGTATATACATATACAACTAGATATATGTAT ATACATATACAACTAGATATAT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX59_chr1_200639037_200674907	200672978	CAAAGTGC others(45): Show CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTT TTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	388	0.0026	-52	c.-32 others(63): Show c.-3275_-3224delAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTT	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding		3072		chr1	TogoVar
DEAF1_chr11_639233_700222	697342	TGTTTAAC others(45): Show TGTTTAACTTCTGCCTGACACAGCTATTCGTAGCCACATTGTGATTATAG TAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	344	0.0029	-52	c.-23 others(63): Show c.-2347_-2296delTTACTATAATCACAATGTGGCTACGAATAGCTGT GTCAGGCAGAAGTTAAAC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		2121		chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60667708	TAAAATGG others(45): Show TAAAATGGATATTTTACATATATATAAAAAATGGATATTTTACATATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG06807.hp1 NA21309.hp2 HG03710.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0171	3	196	0.0153	-52	c.314 others(71): Show c.314+19202_314+19253delTTATATATATGTAAAATATCCATTTT TTATATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKB_chr7_14140049_14907751	14278194	TGAGTAAA others(45): Show TGAGTAAAAAGAACAAAACTGGGGCATCACATGCCCTGAGTTAAAAAATA TTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02717.hp2 HG02818.hp2 others(1): Show HG01255.hp2 HG02717.hp2 HG02818.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0009 a0001c0002t0038 a0001c0003t0001 others(1): Show a0001c0002t0009 a0001c0002t0038 a0001c0003t0001 a0001c0006t0019	a0001c0002t0009g0064 a0001c0002t0038g0093 a0001c0003t0001g0006 others(1): Show a0001c0002t0009g0064 a0001c0002t0038g0093 a0001c0003t0001g0006 a0001c0006t0019g0144	4	146	0.0274	-52	c.212 others(73): Show c.2122+60269_2122+60320delTAATATTTTTTAACTCAGGGCATG TGATGCCCCAGTTTTGTTCTTTTTACTC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar

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